Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample EPHA2 1969 broad.mit.edu 37 1 16464437 16464437 + Missense_Mutation SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:16464437T>C uc001aya.1 - 5 1360 c.1223A>G c.(1222-1224)TAC>TGC p.Y408C EPHA2_uc010oca.1_Missense_Mutation_p.Y408C NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 408 Extracellular (Potential).|Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGTGAAGGTGTAGTTCATGTG 0.627 NaN 0 0 0 0.00361 0 46 36 ARHGEF10L 55160 broad.mit.edu 37 1 17939589 17939589 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:17939589G>A uc001ban.2 + 8 805 c.646G>A c.(646-648)GCC>ACC p.A216T ARHGEF10L_uc009vpe.1_Intron|ARHGEF10L_uc001bao.2_Intron|ARHGEF10L_uc001bap.2_Intron|ARHGEF10L_uc010ocr.1_Intron|ARHGEF10L_uc001baq.2_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 216 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GGAGAGATACGCCAGGACTAA 0.547 NaN 0 0 0 0.002836 0 28 126 EIF4G3 8672 broad.mit.edu 37 1 21186926 21186926 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:21186926C>G uc001bec.2 - 19 3284 c.3028G>C c.(3028-3030)GAG>CAG p.E1010Q EIF4G3_uc010odi.1_Missense_Mutation_p.E614Q|EIF4G3_uc010odj.1_Missense_Mutation_p.E1009Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.E730Q|EIF4G3_uc001bed.2_Missense_Mutation_p.E1010Q|EIF4G3_uc001bef.2_Missense_Mutation_p.E1046Q|EIF4G3_uc001bee.2_Missense_Mutation_p.E1016Q NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1010 eIF3/EIF4A-binding (By similarity).|Potential. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TTCCTTTGCTCTTCTTGTTCT 0.428 NaN 0 0 0 0.00361 0 58 63 BAI2 576 broad.mit.edu 37 1 32222088 32222088 + Missense_Mutation SNP G G A rs145025368 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:32222088G>A uc001btn.2 - 4 704 c.350C>T c.(349-351)GCG>GTG p.A117V BAI2_uc010ogp.1_Missense_Mutation_p.A105V|BAI2_uc010ogq.1_Missense_Mutation_p.A117V|BAI2_uc001bto.2_Missense_Mutation_p.A117V|BAI2_uc001btq.1_Missense_Mutation_p.A105V|BAI2_uc010ogr.1_Missense_Mutation_p.A105V NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 117 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CTGGGCCACCGCCTCCTCGGG 0.687 NaN 0 0 0 0.004672 0 3 14 CYP4B1 1580 broad.mit.edu 37 1 47279201 47279201 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:47279201C>G uc001cqm.3 + 5 627 c.543C>G c.(541-543)TTC>TTG p.F181L CYP4B1_uc009vyl.1_Missense_Mutation_p.F18L|CYP4B1_uc001cqn.3_Missense_Mutation_p.F181L|CYP4B1_uc009vym.2_Missense_Mutation_p.F166L|CYP4B1_uc010omk.1_Missense_Mutation_p.F18L|CYP4B1_uc010oml.1_Missense_Mutation_p.F18L NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 181 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TTGACATCTTCTGCGATGTGG 0.572 NaN 0 0 0 0.008871 0 17 80 SLC44A5 204962 broad.mit.edu 37 1 75862289 75862289 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:75862289G>A uc001dgu.2 - 3 175 c.31C>T c.(31-33)CCC>TCC p.P11S SLC44A5_uc001dgt.2_Missense_Mutation_p.P11S|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.P50S|SLC44A5_uc010ora.1_Intron|SLC44A5_uc010orb.1_5'UTR NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 11 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TCCTCAGAGGGAGTATCTGCT 0.363 NaN 0 0 0 0.00361 0 63 51 ARHGAP29 9411 broad.mit.edu 37 1 94697113 94697113 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:94697113G>C uc001dqj.3 - 2 424 c.55C>G c.(55-57)CAA>GAA p.Q19E ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.Q19E NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 19 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTAGAGAGTTGACCTGATGCC 0.388 NaN 0 0 0 0.005443 0 20 154 DBT 1629 broad.mit.edu 37 1 100706396 100706396 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:100706396C>A uc001dta.2 - 2 129 c.96G>T c.(94-96)TTG>TTT p.L32F DBT_uc010oug.1_5'UTR NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 32 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AATTTGGCTTCAAAACATGAA 0.323 NaN 1 0 5.82388e-19 0.00361 6.16791e-19 45 56 ATP1A1 476 broad.mit.edu 37 1 116941293 116941293 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:116941293G>A uc001ege.2 + 16 2514 c.2175G>A c.(2173-2175)TTG>TTA p.L725L ATP1A1_uc010owv.1_Silent_p.L694L|ATP1A1_uc010oww.1_Silent_p.L725L|ATP1A1_uc010owx.1_Silent_p.L694L|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 725 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) CTCCAGCTTTGAAGAAAGCAG 0.483 NaN 0 0 0 0.004878 0 31 160 PDE4DIP 9659 broad.mit.edu 37 1 144946680 144946680 + Missense_Mutation SNP C C T rs144942272 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:144946680C>T uc001elw.3 - 5 872 c.581G>A c.(580-582)CGG>CAG p.R194Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R260Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R194Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R194Q NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 194 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTTTCTCCCGAGATAGCTG 0.458 NaN T PDGFRB MPD 0 0 0 0.004482 0 8 67 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NaN 0 0 0 0.009096 0 3 50 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NaN 0 0 0 0.006214 0 7 45 ECM1 1893 broad.mit.edu 37 1 150484939 150484939 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:150484939C>T uc001eus.2 + 8 1394 c.1195C>T c.(1195-1197)CGG>TGG p.R399W ECM1_uc001eut.2_Missense_Mutation_p.R274W|ECM1_uc001euu.2_Missense_Mutation_p.R428W|ECM1_uc001euv.2_Missense_Mutation_p.R426W|ECM1_uc009wlu.2_Missense_Mutation_p.R159W NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 399 2 X approximate repeats.|2. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTTGCCCGTCGGGCTCCTTA 0.567 NaN 0 0 0 0.00278 0 21 100 FLG2 388698 broad.mit.edu 37 1 152325463 152325463 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:152325463C>T uc001ezw.3 - 3 4872 c.4799G>A c.(4798-4800)GGC>GAC p.G1600D uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1600 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGGCTTGGCCGTAAGTGTG 0.507 NaN 0 0 0 0.00361 0 145 131 F5 2153 broad.mit.edu 37 1 169510442 169510442 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:169510442G>C uc001ggg.1 - 13 4031 c.3886C>G c.(3886-3888)CCA>GCA p.P1296A NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1296 2-13.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAGTTCTGGAGAGAGGTTT 0.522 NaN 0 0 0 0.00361 0 151 173 RYR2 6262 broad.mit.edu 37 1 237944916 237944916 + Missense_Mutation SNP A A T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr1:237944916A>T uc001hyl.1 + 89 12052 c.11932A>T c.(11932-11934)ATG>TTG p.M3978L RYR2_uc010pya.1_Missense_Mutation_p.M393L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3978 Helical; Name=M2; (Potential). 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) GCAGAAGGATATGGTGGTCAT 0.318 NaN 0 0 0 0.000602 0 3 5 ITGA8 8516 broad.mit.edu 37 10 15760899 15760899 + Splice_Site SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:15760899C>G uc001ioc.1 - 2 210 c.210_splice c.e2-1 p.T70_splice ITGA8_uc010qcb.1_Splice_Site_p.T70_splice NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GACACTCGCTCTGCAAAAGAG 0.607 NaN 0 0 0 0.00874 0 39 55 FAM13C 220965 broad.mit.edu 37 10 61012730 61012730 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:61012730C>T uc001jkn.2 - 13 1495 c.1361G>A c.(1360-1362)CGT>CAT p.R454H FAM13C_uc001jko.2_Missense_Mutation_p.R356H|FAM13C_uc010qid.1_Missense_Mutation_p.R370H|FAM13C_uc010qie.1_Missense_Mutation_p.R371H|FAM13C_uc010qif.1_Missense_Mutation_p.R476H NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 454 ovary(2) 2 TCCCTGTGGACGGTCTTCATC 0.483 NaN 0 0 0 0.003271 0 29 53 PDE6C 5146 broad.mit.edu 37 10 95396758 95396758 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:95396758C>G uc001kiu.3 + 11 1558 c.1420C>G c.(1420-1422)CAA>GAA p.Q474E NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 474 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) TTAGAAATTTCAAGAGAAGTT 0.289 NaN 0 0 0 0.008871 0 17 10 NRAP 4892 broad.mit.edu 37 10 115401142 115401142 + Silent SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:115401142A>G uc001laj.2 - 13 1469 c.1305T>C c.(1303-1305)GTT>GTC p.V435V NRAP_uc001lak.2_Silent_p.V400V|NRAP_uc001lal.3_Silent_p.V435V NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 435 Nebulin 10. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CCAGGCTGCCAACTTTCATAG 0.458 NaN 0 0 0 0.00361 0 51 26 SEC23IP 11196 broad.mit.edu 37 10 121652431 121652431 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:121652431C>G uc001leu.1 + 1 209 c.137C>G c.(136-138)TCT>TGT p.S46C SEC23IP_uc010qtc.1_Missense_Mutation_p.L13V NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 46 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GCCTCCGCTTCTCCGGCCTCC 0.622 NaN 0 0 0 0.00361 0 50 9 TACC2 10579 broad.mit.edu 37 10 123845062 123845062 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr10:123845062G>C uc001lfv.2 + 4 3407 c.3047G>C c.(3046-3048)GGA>GCA p.G1016A TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.G1016A|TACC2_uc010qtv.1_Missense_Mutation_p.G1016A NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1016 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) AGGCATCCAGGAGCTTCTGAA 0.557 NaN 0 0 0 0.007413 0 16 10 MUC5B 727897 broad.mit.edu 37 11 1268537 1268537 + Nonsense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:1268537C>A uc009ycr.1 + 50 12137 c.12011C>A c.(12010-12012)TCG>TAG p.S4004* MUC5B_uc001ltb.2_Nonsense_Mutation_p.S3479* NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3476 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCGGCCACCTCGGGCATCTTG 0.672 NaN 1 0 2.87052e-16 0.005524 3.02731e-16 24 130 TRPM5 29850 broad.mit.edu 37 11 2443523 2443523 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:2443523G>A uc001lwm.3 - 2 155 c.146C>T c.(145-147)CCG>CTG p.P49L TRPM5_uc010qxl.1_Missense_Mutation_p.P49L|TRPM5_uc009ydn.2_Missense_Mutation_p.P49L NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 49 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GAGCACAGACGGGGCCACTCC 0.662 NaN 0 0 0 0.004289 0 33 60 NAP1L4 4676 broad.mit.edu 37 11 2975840 2975840 + Nonsense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:2975840C>A uc001lxc.2 - 12 1093 c.952G>T c.(952-954)GAA>TAA p.E318* NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Nonsense_Mutation_p.E318*|NAP1L4_uc010qxn.1_Nonsense_Mutation_p.E318* NM_005969 NP_005960 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 318 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding ovary(1) 1 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) TGTCCAATTTCAAAATCAGAG 0.448 NaN 1 0 7.11191e-15 0.002836 7.46899e-15 32 37 ZNF195 7748 broad.mit.edu 37 11 3380678 3380678 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:3380678C>T uc001lxt.2 - 6 1738 c.1560G>A c.(1558-1560)AAG>AAA p.K520K uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.K497K|ZNF195_uc001lxs.2_Silent_p.K448K|ZNF195_uc010qxr.1_Silent_p.K501K|ZNF195_uc009ydz.2_Silent_p.K475K|ZNF195_uc001lxu.2_Silent_p.K452K NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGCTTCTCTCCAG 0.403 NaN 0 0 0 0.009096 0 4 171 HPS5 11234 broad.mit.edu 37 11 18322409 18322409 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:18322409C>T uc001mod.1 - 9 1229 c.951G>A c.(949-951)CAG>CAA p.Q317Q HPS5_uc001moe.1_Silent_p.Q203Q|HPS5_uc001mof.1_Silent_p.Q203Q NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 317 cytosol ovary(1)|pancreas(1)|skin(1) 3 CTTGAACATTCTGAGGAATGA 0.323 NaN Hermansky-Pudlak_syndrome 0 0 0 0.003954 0 20 19 ARHGAP1 392 broad.mit.edu 37 11 46700690 46700690 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:46700690G>A uc001ndd.2 - 13 1286 c.1217C>T c.(1216-1218)GCG>GTG p.A406V NM_004308 NP_004299 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 406 Rho-GAP. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity skin(1) 1 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GGTGATGGCCGCATCCTTGGC 0.552 NaN 0 0 0 0.009096 0 4 107 OR4X2 119764 broad.mit.edu 37 11 48267009 48267009 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:48267009C>T uc001ngs.1 + 1 354 c.354C>T c.(352-354)ATC>ATT p.I118I NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 118 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGTGGCCATCTGCAAGCCCC 0.512 NaN 0 0 0 0.011902 0 44 47 VWCE 220001 broad.mit.edu 37 11 61039180 61039180 + Silent SNP C C T rs141642839 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:61039180C>T uc001nra.2 - 14 2031 c.1752G>A c.(1750-1752)TCG>TCA p.S584S VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 584 VWFC 4. extracellular region calcium ion binding ovary(1) 1 GGTCACCAGGCGACCAGATCT 0.557 NaN 0 0 0 0.001984 0 6 40 GANAB 23193 broad.mit.edu 37 11 62397103 62397103 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:62397103G>C uc001nub.2 - 15 1824 c.1791C>G c.(1789-1791)CCC>CCG p.P597P GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.P619P|GANAB_uc001nuc.2_Silent_p.P500P|GANAB_uc010rma.1_Silent_p.P505P|GANAB_uc010rmb.1_Silent_p.P483P NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 597 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 CCAGGACAAAGGGGCGTTCCA 0.597 NaN 0 0 0 0.00499 0 14 35 DKFZp761E198 91056 broad.mit.edu 37 11 65547046 65547046 + Silent SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:65547046T>C uc001ofo.3 - 1 777 c.747A>G c.(745-747)GCA>GCG p.A249A NM_138368 NP_612377 Q2VPB7 YK046_HUMAN hypothetical protein LOC91056 249 Leu-rich. protein binding 0 READ - Rectum adenocarcinoma(159;0.167) GCTTGAAGAGTGCCGGTGGCT 0.642 NaN 0 0 0 0.001168 0 5 6 CCDC87 55231 broad.mit.edu 37 11 66360121 66360121 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:66360121C>T uc001oiq.3 - 1 434 c.366G>A c.(364-366)CTG>CTA p.L122L CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 122 ovary(1)|skin(1) 2 GCTCGCTGCTCAGCAGCACGT 0.627 NaN OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 48 57 LRP5 4041 broad.mit.edu 37 11 68171050 68171050 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:68171050G>C uc001ont.2 + 8 1759 c.1684G>C c.(1684-1686)GAC>CAC p.D562H LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 562 YWTD 8.|Beta-propeller 2.|LDL-receptor class B 10.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTACTGGACTGACTGGCAGCG 0.597 NaN 0 0 0 0.005524 0 35 61 MYO7A 4647 broad.mit.edu 37 11 76873903 76873903 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:76873903C>G uc001oyb.2 + 14 1831 c.1559C>G c.(1558-1560)ACA>AGA p.T520R MYO7A_uc010rsl.1_Missense_Mutation_p.T520R|MYO7A_uc010rsm.1_Missense_Mutation_p.T509R|MYO7A_uc001oyc.2_Missense_Mutation_p.T520R NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 520 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCCCAGGGCACAGACACCACC 0.587 NaN 0 0 0 0.00361 0 70 73 FAT3 120114 broad.mit.edu 37 11 92616246 92616246 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:92616246G>A uc001pdj.3 + 23 12641 c.12624G>A c.(12622-12624)CCG>CCA p.P4208P FAT3_uc001pdi.3_Silent_p.P648P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4208 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGGCATCCCGTTCCGGAACC 0.657 NaN TCGA Ovarian(4;0.039) 0 0 0 0.004007 0 14 96 HYOU1 10525 broad.mit.edu 37 11 118919580 118919580 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:118919580C>T uc001puu.2 - 18 2204 c.2011G>A c.(2011-2013)GAG>AAG p.E671K HYOU1_uc001put.2_Missense_Mutation_p.E636K|HYOU1_uc010ryu.1_Missense_Mutation_p.E629K|HYOU1_uc010ryv.1_Missense_Mutation_p.E560K|HYOU1_uc001pux.3_Missense_Mutation_p.E671K|HYOU1_uc010ryw.1_RNA NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 671 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGCCCTGCCTCTGCCTTCTCA 0.612 NaN 0 0 0 0.00361 0 46 40 CCDC153 283152 broad.mit.edu 37 11 119061144 119061144 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:119061144G>C uc010rze.1 - 7 586 c.498C>G c.(496-498)CTC>CTG p.L166L NM_001145018 NP_001138490 Q494R4 CC153_HUMAN coiled-coil domain containing 153 166 0 GCTTGGCCAAGAGCCTGTCCA 0.562 NaN 0 0 0 0.00361 0 74 56 TECTA 7007 broad.mit.edu 37 11 120989224 120989224 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:120989224G>C uc010rzo.1 + 6 1000 c.1000G>C c.(1000-1002)GAC>CAC p.D334H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 334 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCACACTTTTGACGGCTTCCT 0.557 NaN 0 0 0 0.003163 0 15 93 IGSF9B 22997 broad.mit.edu 37 11 133789947 133789947 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr11:133789947G>A uc001qgx.3 - 18 3904 c.3673C>T c.(3673-3675)CGC>TGC p.R1225C NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1225 Pro-rich.|Cytoplasmic (Potential). 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) AGGCCCGGGCGAGGCCGGGCA 0.677 NaN 0 0 0 0.009535 0 27 18 CHD4 1108 broad.mit.edu 37 12 6707456 6707456 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:6707456C>T uc001qpo.2 - 11 1782 c.1618G>A c.(1618-1620)GAG>AAG p.E540K CHD4_uc001qpn.2_Missense_Mutation_p.E533K|CHD4_uc001qpp.2_Missense_Mutation_p.E537K NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 540 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AACTGCCGCTCTGGCCGCCCC 0.572 NaN 0 0 0 0.00361 0 123 115 KLRC4 8302 broad.mit.edu 37 12 10560257 10560257 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:10560257G>C uc001qye.2 - 4 654 c.472C>G c.(472-474)CTA>GTA p.L158V KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR NM_013431 NP_038459 O43908 NKG2F_HUMAN killer cell lectin-like receptor subfamily C, 158 Extracellular (Potential). cellular defense response integral to membrane binding|receptor activity 0 ATTATCTATAGAAAGCAGATC 0.274 NaN 0 0 0 0.00361 0 61 180 ANO6 196527 broad.mit.edu 37 12 45823019 45823019 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:45823019G>C uc001roo.2 + 20 2993 c.2658G>C c.(2656-2658)ATG>ATC p.M886I ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.M907I|ANO6_uc010slg.1_Missense_Mutation_p.M868I NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 886 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 TCAAAGATATGACGAAAAATA 0.388 NaN 0 0 0 0.004007 0 13 36 ANKRD52 283373 broad.mit.edu 37 12 56641847 56641847 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:56641847G>C uc001skm.3 - 18 2028 c.1938C>G c.(1936-1938)ATC>ATG p.I646M NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 646 ANK 18. protein binding ovary(2) 2 TGCGCTCCTTGATGAGGGCAG 0.637 NaN 0 0 0 0.008291 0 10 15 GNS 2799 broad.mit.edu 37 12 65110565 65110565 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:65110565G>A uc001ssg.3 - 14 1785 c.1615C>T c.(1615-1617)CGC>TGC p.R539C GNS_uc001ssf.2_Missense_Mutation_p.R483C|GNS_uc010ssq.1_Missense_Mutation_p.R571C|GNS_uc010ssr.1_Missense_Mutation_p.R519C NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 539 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ACACTGCCGCGATTGCTGAAC 0.473 NaN 0 0 0 0.010504 0 15 53 TMTC2 160335 broad.mit.edu 37 12 83081401 83081401 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:83081401C>T uc001szt.2 + 1 468 c.36C>T c.(34-36)CTC>CTT p.L12L TMTC2_uc001szr.1_Silent_p.L12L|TMTC2_uc001szs.1_Silent_p.L12L|TMTC2_uc010suk.1_5'UTR NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 12 endoplasmic reticulum|integral to membrane binding ovary(2) 2 CTCTGGGGCTCGCCTTGTATC 0.627 NaN OREG0022010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001368 0 11 25 OAS2 4939 broad.mit.edu 37 12 113440781 113440781 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:113440781C>A uc001tuj.2 + 6 1193 c.1053C>A c.(1051-1053)TTC>TTA p.F351L OAS2_uc001tui.1_Missense_Mutation_p.F351L NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 351 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 TGGATAAGTTCATCAAGGAGT 0.507 NaN 1 0 2.37301e-105 0.00361 2.63551e-105 169 189 WSB2 55884 broad.mit.edu 37 12 118480669 118480669 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:118480669C>T uc001twr.2 - 4 634 c.536G>A c.(535-537)CGC>CAC p.R179H WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.R179H NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 179 WD 2. intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCCCAGATGCGAAGAGTCTT 0.458 NaN 0 0 0 0.009718 0 39 146 GALNT9 50614 broad.mit.edu 37 12 132685671 132685671 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:132685671C>G uc001ukc.3 - 8 1515 c.1399G>C c.(1399-1401)GAG>CAG p.E467Q GALNT9_uc009zyr.2_Missense_Mutation_p.E241Q|GALNT9_uc001ukb.2_Missense_Mutation_p.E324Q|GALNT9_uc001uka.2_Missense_Mutation_p.E101Q NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 467 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GGTGCTACCTCTCCGTACGTG 0.607 NaN 0 0 0 0.004482 0 6 21 FRY 10129 broad.mit.edu 37 13 32821530 32821530 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr13:32821530C>T uc001utx.2 + 48 7395 c.6899C>T c.(6898-6900)CCT>CTT p.P2300L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2300 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTGTTTTACCTTCATACCAG 0.433 NaN 0 0 0 0.00361 0 67 88 FREM2 341640 broad.mit.edu 37 13 39262725 39262725 + Missense_Mutation SNP T T A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr13:39262725T>A uc001uwv.2 + 1 1553 c.1244T>A c.(1243-1245)GTG>GAG p.V415E NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 415 CSPG 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTGGAGGTAGTGGATCTAGAA 0.532 NaN 0 0 0 0.007413 0 18 55 OR4K14 122740 broad.mit.edu 37 14 20482654 20482654 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:20482654G>T uc010tky.1 - 1 699 c.699C>A c.(697-699)AGC>AGA p.S233R NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CTTTGGATGTGCTACCGGCAG 0.502 NaN 1 0 0.00307968 0.00308 0.00310442 8 15 SLC7A8 23428 broad.mit.edu 37 14 23596404 23596404 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:23596404C>T uc001wiz.2 - 11 2316 c.1590G>A c.(1588-1590)GCG>GCA p.A530A SLC7A8_uc001wiw.2_Silent_p.A147A|SLC7A8_uc001wix.2_Silent_p.A327A|SLC7A8_uc010tnk.1_Silent_p.A306A|SLC7A8_uc010tnl.1_Silent_p.A425A|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_3'UTR NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 530 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GGGGCTGCCCCGCCACGTCCT 0.617 NaN 0 0 0 0.003271 0 27 74 CLEC14A 161198 broad.mit.edu 37 14 38724762 38724762 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:38724762C>T uc001wum.1 - 1 813 c.466G>A c.(466-468)GGC>AGC p.G156S NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 156 Extracellular (Potential).|C-type lectin. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TCCTTCCAGCCTGCGGGCTCG 0.572 NaN 0 0 0 0.003755 0 30 32 DAAM1 23002 broad.mit.edu 37 14 59820639 59820639 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:59820639G>C uc001xdz.1 + 20 2468 c.2343G>C c.(2341-2343)AAG>AAC p.K781N DAAM1_uc001xea.1_Missense_Mutation_p.K771N|DAAM1_uc001xec.1_5'Flank NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 781 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACTTCAAAAAGAAGTTTGCAG 0.348 NaN 0 0 0 0.00245 0 11 47 VTI1B 10490 broad.mit.edu 37 14 68120200 68120200 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:68120200C>T uc001xjt.2 - 5 952 c.556G>A c.(556-558)GAA>AAA p.E186K VTI1B_uc010aqp.2_Missense_Mutation_p.E125K|VTI1B_uc001xju.2_Missense_Mutation_p.E145K NM_006370 NP_006361 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with 186 Potential.|Cytoplasmic (Potential). cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane 0 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) CTCAAGTTTTCACTTGTGTTT 0.333 NaN 0 0 0 0.00245 0 12 46 SIPA1L1 26037 broad.mit.edu 37 14 72196849 72196849 + Silent SNP G G A rs141905323 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:72196849G>A uc001xms.2 + 18 5103 c.4755G>A c.(4753-4755)TCG>TCA p.S1585S SIPA1L1_uc001xmt.2_Silent_p.S1564S|SIPA1L1_uc001xmu.2_Silent_p.S1564S|SIPA1L1_uc001xmv.2_Silent_p.S1585S|SIPA1L1_uc010ttm.1_Silent_p.S1039S|SIPA1L1_uc001xmw.2_Silent_p.S350S NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1585 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GAACACTGTCGGACGAGAGCA 0.557 NaN 0 0 0 0.001984 0 6 88 BTBD7 55727 broad.mit.edu 37 14 93714878 93714878 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:93714878G>C uc001ybo.2 - 9 2391 c.2065C>G c.(2065-2067)CAG>GAG p.Q689E BTBD7_uc010aur.2_Missense_Mutation_p.Q214E|BTBD7_uc010two.1_Missense_Mutation_p.Q509E|BTBD7_uc001ybp.2_Missense_Mutation_p.Q338E NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 689 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACTCGAATCTGAATTTCATAG 0.517 NaN 0 0 0 0.00623 0 29 32 DICER1 23405 broad.mit.edu 37 14 95562743 95562743 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr14:95562743G>C uc001ydw.2 - 24 4696 c.4514C>G c.(4513-4515)TCT>TGT p.S1505C DICER1_uc010avh.1_Missense_Mutation_p.S403C|DICER1_uc001ydv.2_Missense_Mutation_p.S1495C|DICER1_uc001ydx.2_Missense_Mutation_p.S1505C|DICER1_uc001ydy.1_Missense_Mutation_p.S357C NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1505 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGCATCCCAAGAGCTGTAGTC 0.408 NaN Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 0 0 0 0.00333 0 24 55 APBA2 321 broad.mit.edu 37 15 29346371 29346371 + Missense_Mutation SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:29346371A>G uc001zck.2 + 3 491 c.284A>G c.(283-285)GAG>GGG p.E95G APBA2_uc010azj.2_Missense_Mutation_p.E95G|APBA2_uc010uat.1_Missense_Mutation_p.E95G|APBA2_uc001zcl.2_Missense_Mutation_p.E95G|APBA2_uc010uas.1_Missense_Mutation_p.E95G NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 95 Poly-Glu. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GAGGAGGAGGAGGGCATCACC 0.607 NaN 0 0 0 0.009096 0 3 170 TMEM87A 25963 broad.mit.edu 37 15 42512293 42512293 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:42512293C>T uc010udd.1 - 16 1603 c.1444G>A c.(1444-1446)GAA>AAA p.E482K NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 482 Poly-Glu. integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TCCTTTTGTTCATCCTCCTCC 0.318 NaN 0 0 0 0.004289 0 27 91 DENND4A 10260 broad.mit.edu 37 15 66015201 66015201 + Nonsense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:66015201G>A uc002aph.2 - 12 1951 c.1573C>T c.(1573-1575)CAG>TAG p.Q525* DENND4A_uc002api.2_Nonsense_Mutation_p.Q525*|DENND4A_uc002apj.3_Nonsense_Mutation_p.Q525*|DENND4A_uc010ujj.1_Nonsense_Mutation_p.Q525* NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GCCAATTGCTGATGCAAATTA 0.308 NaN 0 0 0 0.00308 0 7 27 PAQR5 54852 broad.mit.edu 37 15 69677202 69677202 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:69677202C>T uc002arz.2 + 5 744 c.366C>T c.(364-366)GCC>GCT p.A122A PAQR5_uc002asa.2_Silent_p.A122A NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 122 Helical; Name=3; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 ACTATGGTGCCGTCAACCTCT 0.562 NaN 0 0 0 0.006122 0 16 19 BTBD1 53339 broad.mit.edu 37 15 83698894 83698894 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:83698894C>T uc002bjn.2 - 5 1252 c.1049G>A c.(1048-1050)CGA>CAA p.R350Q BTBD1_uc002bjo.2_Missense_Mutation_p.R350Q NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 350 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) ATACCTGATTCGATCACTCGT 0.448 NaN 0 0 0 0.00361 0 187 388 BTBD1 53339 broad.mit.edu 37 15 83735836 83735836 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:83735836G>A uc002bjn.2 - 1 271 c.68C>T c.(67-69)GCG>GTG p.A23V BTBD1_uc002bjo.2_Missense_Mutation_p.A23V NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 23 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) cggcggccccgcggggcccgg 0.582 NaN 0 0 0 0.009096 0 4 5 MPG 4350 broad.mit.edu 37 16 135661 135661 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:135661G>A uc002cfn.2 + 5 1100 c.782G>A c.(781-783)CGG>CAG p.R261Q MPG_uc002cfm.2_Missense_Mutation_p.R244Q|MPG_uc002cfo.2_Missense_Mutation_p.R256Q|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron NM_002434 NP_002425 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase isoform a 261 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding ovary(1)|skin(1) 2 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) GCAGCAGCCCGGGTGGGCGTC 0.657 NaN BER_DNA_glycosylases 0 0 0 0.009096 0 4 6 BTBD12 84464 broad.mit.edu 37 16 3639978 3639978 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:3639978C>A uc002cvp.2 - 12 4288 c.3661G>T c.(3661-3663)GCG>TCG p.A1221S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1221 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TCCGGCAGCGCCCCCTCATCC 0.607 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 1 0 5.35267e-07 0.007413 5.46146e-07 17 45 ERCC4 2072 broad.mit.edu 37 16 14021928 14021928 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:14021928G>A uc002dce.2 + 4 637 c.628G>A c.(628-630)GAA>AAA p.E210K ERCC4_uc010bva.2_Missense_Mutation_p.E210K NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 210 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 GCACAAACCTGAAGTTGTAGA 0.343 NaN Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.007835 0 29 77 TAOK2 9344 broad.mit.edu 37 16 29996729 29996729 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:29996729G>A uc002dva.1 + 14 2401 c.1618G>A c.(1618-1620)GAA>AAA p.E540K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E540K|TAOK2_uc002dvc.1_Missense_Mutation_p.E540K|TAOK2_uc010bzm.1_Missense_Mutation_p.E547K|TAOK2_uc002dvd.1_Missense_Mutation_p.E367K NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 540 Potential. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGCAGAGGCAGAAAAGCTGGC 0.672 NaN 0 0 0 0.000602 0 5 6 ZNF267 10308 broad.mit.edu 37 16 31927296 31927296 + Missense_Mutation SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:31927296T>C uc002ecs.3 + 4 1935 c.1726T>C c.(1726-1728)TAC>CAC p.Y576H NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 576 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AGAAAAACCATACAAATGTAA 0.383 NaN 0 0 0 0.006122 0 14 42 MYLK3 91807 broad.mit.edu 37 16 46771856 46771856 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:46771856C>T uc002eei.3 - 3 884 c.768G>A c.(766-768)GAG>GAA p.E256E MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 256 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCCTGAGGTTCTCGCTGGGTG 0.647 NaN 0 0 0 0.001368 0 11 42 MYLK3 91807 broad.mit.edu 37 16 46772020 46772020 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:46772020C>T uc002eei.3 - 3 720 c.604G>A c.(604-606)GAG>AAG p.E202K MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 202 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCAGCCTCTCCGCTGTCCCC 0.637 NaN 0 0 0 0.00308 0 6 13 MYLK3 91807 broad.mit.edu 37 16 46773969 46773969 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:46773969C>T uc002eei.3 - 2 684 c.568G>A c.(568-570)GAG>AAG p.E190K MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 190 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCCCACTCACCTTCCCCAGGC 0.502 NaN 0 0 0 0.00333 0 12 155 MYLK3 91807 broad.mit.edu 37 16 46773981 46773981 + Missense_Mutation SNP C C T rs55813660 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:46773981C>T uc002eei.3 - 2 672 c.556G>A c.(556-558)GAG>AAG p.E186K MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 186 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCCCCAGGCTCCCTGGCATCA 0.473 NaN 0 0 0 0.003954 0 12 165 CDH11 1009 broad.mit.edu 37 16 64981662 64981662 + Nonsense_Mutation SNP A A C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:64981662A>C uc002eoi.2 - 13 2669 c.2235T>G c.(2233-2235)TAT>TAG p.Y745* CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Nonsense_Mutation_p.Y619* NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 745 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCCTGCCTTCATAACCGTAGA 0.527 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.008871 0 16 57 C16orf55 124045 broad.mit.edu 37 16 89735693 89735693 + Splice_Site SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:89735693G>C uc002fnw.1 + 3 209 c.209_splice c.e3-1 p.E70_splice C16orf55_uc010vpk.1_Splice_Site_p.E71_splice|C16orf55_uc002fny.1_Splice_Site NM_153025 NP_694570 Q96N06 CP055_HUMAN hypothetical protein LOC124045 0 all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0274) TTTTCCTCTAGAGAAACCTGA 0.458 NaN 0 0 0 0.004482 0 8 32 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00361 0 54 16 MYH10 4628 broad.mit.edu 37 17 8379127 8379127 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:8379127C>G uc002gll.2 - 41 6022 c.5926G>C c.(5926-5928)GAG>CAG p.E1976Q MYH10_uc002glm.2_Missense_Mutation_p.E2007Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1985Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1976 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CAACTTTACTCTGACTGGGGT 0.562 NaN 0 0 0 0.00361 0 151 67 SUZ12 23512 broad.mit.edu 37 17 30323833 30323833 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:30323833C>G uc002hgs.2 + 15 2033 c.1811C>G c.(1810-1812)TCT>TGT p.S604C SUZ12_uc002hgt.2_Missense_Mutation_p.S581C NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 604 VEFS-box. negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) GAAGAGTTTTCTGATGTTAAT 0.294 NaN T JAZF1 endometrial stromal tumours 0 0 0 0.00361 0 38 32 GAS2L2 246176 broad.mit.edu 37 17 34077315 34077315 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:34077315C>T uc002hjv.1 - 2 436 c.408G>A c.(406-408)GAG>GAA p.E136E NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 136 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCACCAAGTCCTCCGTCTCGA 0.662 NaN 0 0 0 0.00632 0 27 260 GAS2L2 246176 broad.mit.edu 37 17 34079717 34079717 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:34079717G>T uc002hjv.1 - 1 181 c.153C>A c.(151-153)GAC>GAA p.D51E NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 51 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTTGGCTGCGTCGATGTCCA 0.607 NaN 1 0 4.09166e-32 0.00361 4.44592e-32 60 87 ACACA 31 broad.mit.edu 37 17 35615271 35615271 + Silent SNP T T G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:35615271T>G uc002hnm.2 - 13 1605 c.1414A>C c.(1414-1416)AGA>CGA p.R472R ACACA_uc002hnk.2_Silent_p.R394R|ACACA_uc002hnl.2_Silent_p.R414R|ACACA_uc002hnn.2_Silent_p.R472R|ACACA_uc002hno.2_Silent_p.R509R|ACACA_uc010cuz.2_Silent_p.R472R NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 472 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCCTTGATTCTATATAGAGGA 0.403 NaN 0 0 0 0.009535 0 23 110 ERBB2 2064 broad.mit.edu 37 17 37868200 37868200 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:37868200C>T uc002hso.2 + 8 1159 c.921C>T c.(919-921)GAC>GAT p.D307D ERBB2_uc002hsm.2_Silent_p.D277D|ERBB2_uc010cwa.2_Silent_p.D292D|ERBB2_uc002hsp.2_Silent_p.D110D|ERBB2_uc010cwb.2_Silent_p.D307D|ERBB2_uc010wek.1_Silent_p.D31D|ERBB2_uc002hsl.2_Silent_p.D277D|ERBB2_uc002hsn.1_Silent_p.D307D NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 307 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TTTCTACGGACGTGGGATCCT 0.577 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.010729 0 9 949 TUBG2 27175 broad.mit.edu 37 17 40817733 40817733 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:40817733G>A uc010wgr.1 + 8 987 c.731G>A c.(730-732)CGC>CAC p.R244H TUBG2_uc002iaq.2_Missense_Mutation_p.R86H|TUBG2_uc002iar.2_Missense_Mutation_p.R91H|TUBG2_uc002ias.2_Missense_Mutation_p.R86H|TUBG2_uc002iap.2_Missense_Mutation_p.R91H NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 244 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) ACCACCCTGCGCTACCCCGGC 0.637 NaN 0 0 0 0.00361 0 78 162 VAT1 10493 broad.mit.edu 37 17 41168155 41168155 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:41168155C>T uc002icm.1 - 6 1225 c.1105G>A c.(1105-1107)GAT>AAT p.D369N VAT1_uc010cyw.1_Missense_Mutation_p.D235N|VAT1_uc010whk.1_Missense_Mutation_p.D301N NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 369 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) TTCATGGCATCAGCCACCTGG 0.567 NaN 0 0 0 0.008291 0 9 424 BCAS3 54828 broad.mit.edu 37 17 59152341 59152341 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:59152341C>T uc002iyv.3 + 21 2244 c.2135C>T c.(2134-2136)TCT>TTT p.S712F BCAS3_uc002iyu.3_Missense_Mutation_p.S697F|BCAS3_uc002iyw.3_Missense_Mutation_p.S693F|BCAS3_uc002iyy.3_Missense_Mutation_p.S468F|BCAS3_uc002iyz.3_Missense_Mutation_p.S266F|BCAS3_uc002iza.3_Missense_Mutation_p.S251F NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 712 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGTTTAGCTTCTGACCATAGT 0.378 NaN 0 0 0 0.00361 0 64 112 ABCA8 10351 broad.mit.edu 37 17 66899519 66899519 + Silent SNP G G A rs144614574 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr17:66899519G>A uc002jhp.2 - 18 2579 c.2400C>T c.(2398-2400)CTC>CTT p.L800L ABCA8_uc002jhq.2_Silent_p.L840L|ABCA8_uc010wqq.1_Silent_p.L840L|ABCA8_uc010wqr.1_Silent_p.L779L|ABCA8_uc002jhr.2_Silent_p.L840L NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 800 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) GCTGTCGCCAGAGAGCCACAC 0.433 NaN 0 0 0 0.00361 0 69 133 DSG2 1829 broad.mit.edu 37 18 29125912 29125912 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr18:29125912C>A uc002kwu.3 + 15 2751 c.2563C>A c.(2563-2565)CAA>AAA p.Q855K uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 855 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGAGCAGAGACAAAAACCTGC 0.388 NaN 1 0 0.000566183 0.00499 0.000573032 4 95 C18orf34 374864 broad.mit.edu 37 18 30804901 30804901 + Splice_Site SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr18:30804901C>G uc002kxn.2 - 16 1799 c.1657_splice c.e16-1 p.K553_splice C18orf34_uc010dme.1_Splice_Site_p.K67_splice|C18orf34_uc010xbr.1_Splice_Site_p.K553_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.K553_splice|C18orf34_uc002kxp.2_Splice_Site_p.K553_splice NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 ovary(1) 1 ATAGTTTTTTCTGCCAGCAAA 0.328 NaN 0 0 0 0.004007 0 13 50 SEC11C 90701 broad.mit.edu 37 18 56816747 56816747 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr18:56816747C>T uc002lht.2 + 2 146 c.90C>T c.(88-90)CTC>CTT p.L30L SEC11C_uc010dpo.1_Silent_p.L30L|SEC11C_uc010xej.1_Silent_p.L30L NM_033280 NP_150596 Q9BY50 SC11C_HUMAN SEC11-like 3 30 Helical; Signal-anchor for type II membrane protein; (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity 0 Colorectal(73;0.175) CATTCCAGCTCTATTACCAGG 0.448 NaN 0 0 0 0.00361 0 59 57 ZCCHC2 54877 broad.mit.edu 37 18 60241918 60241918 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr18:60241918C>T uc002lip.3 + 13 2604 c.2604C>T c.(2602-2604)ATC>ATT p.I868I ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.I338I NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 868 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 CGGACCCCATCACAAAATCTG 0.507 NaN 0 0 0 0.004878 0 33 117 VPS4B 9525 broad.mit.edu 37 18 61058250 61058250 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr18:61058250C>G uc002lix.2 - 11 1553 c.1293G>C c.(1291-1293)TTG>TTC p.L431F NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 431 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 TCTTTAATTTCAACAAGTCAT 0.353 NaN 0 0 0 0.012213 0 24 39 C19orf26 255057 broad.mit.edu 37 19 1231042 1231042 + Silent SNP C C A rs75463186 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:1231042C>A uc002lrm.2 - 9 1469 c.1194G>T c.(1192-1194)TCG>TCT p.S398S NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGGGGGGGGCGAAGGGGGGC 0.716 NaN HNSCC(14;0.022) 1 0 2.0095e-06 0.001984 2.04204e-06 6 28 MUC16 94025 broad.mit.edu 37 19 9071151 9071151 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:9071151G>C uc002mkp.2 - 3 16499 c.16295C>G c.(16294-16296)TCT>TGT p.S5432C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5434 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTTATGTCCAGACCCGGAAGT 0.522 NaN 0 0 0 0.001984 0 6 369 MUC16 94025 broad.mit.edu 37 19 9076312 9076312 + Missense_Mutation SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:9076312T>C uc002mkp.2 - 3 11338 c.11134A>G c.(11134-11136)ACA>GCA p.T3712A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3713 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCATGATCTGTAGAAACCATT 0.458 NaN 0 0 0 0.004878 0 32 123 CARM1 10498 broad.mit.edu 37 19 11031771 11031771 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:11031771C>G uc002mpz.2 + 14 1709 c.1583C>G c.(1582-1584)TCC>TGC p.S528C CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S311C NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 528 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 GCCAGTGGCTCCAGCGTGGGC 0.662 NaN 0 0 0 0.003163 0 11 44 BEST2 54831 broad.mit.edu 37 19 12864153 12864153 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:12864153G>C uc002mux.2 + 2 232 c.232G>C c.(232-234)GTC>CTC p.V78L NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 78 Helical; (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 CCTCATCCCTGTCTCCTTCGT 0.552 NaN 0 0 0 0.00278 0 20 124 ZNF257 113835 broad.mit.edu 37 19 22271633 22271633 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:22271633C>G uc010ecx.2 + 4 1250 c.1081C>G c.(1081-1083)CAA>GAA p.Q361E ZNF257_uc010ecy.2_Missense_Mutation_p.Q329E NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 361 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) ACACCTTACTCAACATAAGAT 0.398 NaN 0 0 0 0.006122 0 13 37 SIPA1L3 23094 broad.mit.edu 37 19 38655151 38655151 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:38655151C>G uc002ohk.2 + 15 4322 c.3813C>G c.(3811-3813)AGC>AGG p.S1271R NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1271 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ATTCCAGCAGCAACACCCTCT 0.622 NaN 0 0 0 0.00361 0 72 139 HNRNPUL1 11100 broad.mit.edu 37 19 41782119 41782119 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:41782119C>T uc002oqb.3 + 5 991 c.702C>T c.(700-702)CTC>CTT p.L234L CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.L134L|HNRNPUL1_uc002oqa.3_Silent_p.L134L|HNRNPUL1_uc010ehm.2_Silent_p.L234L|HNRNPUL1_uc002oqc.3_Silent_p.L191L|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.L134L|HNRNPUL1_uc010ehn.2_Silent_p.L134L|HNRNPUL1_uc010eho.2_Silent_p.L134L|HNRNPUL1_uc010xvy.1_Silent_p.L134L|HNRNPUL1_uc010ehp.2_Silent_p.L90L|HNRNPUL1_uc010ehl.1_Silent_p.L134L NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 234 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 GCTATCCGCTCACAATTGAGG 0.512 NaN 0 0 0 0.00361 0 101 138 PPP5C 5536 broad.mit.edu 37 19 46888119 46888119 + Missense_Mutation SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:46888119T>C uc002pem.2 + 7 917 c.857T>C c.(856-858)CTT>CCT p.L286P PPP5C_uc010xya.1_Missense_Mutation_p.L153P|PPP5C_uc002pen.2_Missense_Mutation_p.L264P|PPP5C_uc010xyb.1_Missense_Mutation_p.L144P NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 286 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) ATCCTCACCCTTTTCGGCTTC 0.527 NaN 0 0 0 0.000602 0 3 139 ZNF83 55769 broad.mit.edu 37 19 53116283 53116283 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:53116283G>C uc002pzu.3 - 2 2779 c.1535C>G c.(1534-1536)TCT>TGT p.S512C ZNF83_uc002pzv.3_Missense_Mutation_p.S512C|ZNF83_uc010eps.2_Missense_Mutation_p.S484C|ZNF83_uc010ept.2_Missense_Mutation_p.S512C|ZNF83_uc010epu.2_Missense_Mutation_p.S512C|ZNF83_uc010epv.2_Missense_Mutation_p.S512C|ZNF83_uc010epw.2_Missense_Mutation_p.S512C|ZNF83_uc010epx.2_Missense_Mutation_p.S484C|ZNF83_uc010epy.2_Missense_Mutation_p.S512C|ZNF83_uc010epz.2_Missense_Mutation_p.S484C NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 512 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ACATGTGTTAGATTTCTTTCC 0.348 NaN 0 0 0 0.00361 0 44 75 ZNF71 58491 broad.mit.edu 37 19 57133450 57133450 + Silent SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:57133450C>G uc002qnm.3 + 3 1033 c.795C>G c.(793-795)ACC>ACG p.T265T NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 265 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCACGCACACCGGGGAGAAGC 0.672 NaN 0 0 0 0.010504 0 20 94 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:57955885C>G uc002qoq.2 + 3 1623 c.1369C>G c.(1369-1371)CAG>GAG p.Q457E ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 457 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGTTCAGCACCAGAAAATCCA 0.423 NaN 0 0 0 0.009096 0 3 151 GEN1 348654 broad.mit.edu 37 2 17961316 17961316 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:17961316G>C uc002rct.2 + 13 1409 c.1336G>C c.(1336-1338)GAA>CAA p.E446Q SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E446Q|GEN1_uc002rcu.2_Missense_Mutation_p.E446Q NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 446 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATCATTGTTTGAAGCAGCATA 0.303 NaN Homologous_recombination 0 0 0 0.00361 0 52 6 PUM2 23369 broad.mit.edu 37 2 20508104 20508104 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:20508104C>G uc002rds.1 - 5 783 c.760G>C c.(760-762)GGC>CGC p.G254R PUM2_uc002rdt.1_Missense_Mutation_p.G254R|PUM2_uc002rdr.2_Missense_Mutation_p.G193R|PUM2_uc010yjy.1_Missense_Mutation_p.G254R|PUM2_uc002rdu.1_Missense_Mutation_p.G254R|PUM2_uc010yjz.1_Missense_Mutation_p.G193R NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 254 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAAAAAGGCCTACAGTAGCT 0.433 NaN 0 0 0 0.00361 0 111 22 XPO1 7514 broad.mit.edu 37 2 61706062 61706062 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:61706062C>G uc002sbj.2 - 25 3837 c.3109G>C c.(3109-3111)GAG>CAG p.E1037Q XPO1_uc010fcl.2_Missense_Mutation_p.E1033Q|XPO1_uc010ypn.1_Missense_Mutation_p.E1033Q|XPO1_uc002sbk.2_Missense_Mutation_p.E598Q|XPO1_uc002sbg.2_Missense_Mutation_p.E234Q|XPO1_uc002sbh.2_Missense_Mutation_p.E684Q NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 1037 HEAT 10. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) ATTTCTCTCTCTTCCAAAAAC 0.388 NaN 0 0 0 0.00361 0 52 44 STARD7 56910 broad.mit.edu 37 2 96859074 96859074 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:96859074C>G uc002svm.3 - 4 967 c.566G>C c.(565-567)AGA>ACA p.R189T STARD7_uc002svl.2_5'UTR NM_020151 NP_064536 Q9NQZ5 STAR7_HUMAN START domain containing 7 precursor 189 START. mitochondrion 0 CCATTTTTTTCTATACTCTGT 0.443 NaN 0 0 0 0.00361 0 43 95 BUB1 699 broad.mit.edu 37 2 111413469 111413469 + Missense_Mutation SNP A A C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:111413469A>C uc002tgc.2 - 16 1835 c.1723T>G c.(1723-1725)TTT>GTT p.F575V BUB1_uc010yxh.1_Missense_Mutation_p.F555V|BUB1_uc010fkb.2_Missense_Mutation_p.F575V NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 575 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TCATCCAAAAACTCTTCAGCA 0.438 NaN 0 0 0 0.004482 0 7 228 MYO7B 4648 broad.mit.edu 37 2 128389955 128389955 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:128389955G>A uc002top.2 + 38 5359 c.5306G>A c.(5305-5307)CGC>CAC p.R1769H MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1769 MyTH4 2. 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) GACTGCAGCCGCCGAATCCAG 0.682 NaN 0 0 0 0.006999 0 31 79 MBD5 55777 broad.mit.edu 37 2 149226442 149226442 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:149226442G>C uc002twm.3 + 9 1918 c.930G>C c.(928-930)ATG>ATC p.M310I MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.M310I|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 310 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GTCCAGTAATGAAAAAACCAA 0.448 NaN 0 0 0 0.004656 0 23 73 TTN 7273 broad.mit.edu 37 2 179411950 179411950 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:179411950G>A uc010zfg.1 - 289 86822 c.86598C>T c.(86596-86598)CAC>CAT p.H28866H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H22561H|TTN_uc010zfi.1_Silent_p.H22494H|TTN_uc010zfj.1_Silent_p.H22369H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29793 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) TGCCACCATCGTGGTAGGGTT 0.443 NaN 0 0 0 0.004482 0 8 225 TTN 7273 broad.mit.edu 37 2 179556797 179556797 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:179556797C>G uc010zfg.1 - 118 28200 c.27976G>C c.(27976-27978)GAG>CAG p.E9326Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5987Q|TTN_uc010fre.1_Missense_Mutation_p.E437Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10253 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) TTTTTCTCCTCTGGCACGGGT 0.453 NaN 0 0 0 0.001855 0 12 35 TTN 7273 broad.mit.edu 37 2 179582433 179582433 + Nonsense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:179582433G>A uc010zfg.1 - 84 21660 c.21436C>T c.(21436-21438)CAA>TAA p.Q7146* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3807* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8073 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) CAAGACACTTGAAGAGGTTCT 0.398 NaN 0 0 0 0.003163 0 14 17 TTN 7273 broad.mit.edu 37 2 179590304 179590304 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:179590304G>T uc010zfg.1 - 68 17119 c.16895C>A c.(16894-16896)TCC>TAC p.S5632Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2293Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6559 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) GCCTTCTATGGATGCTTGTAA 0.423 NaN 1 0 1.66031e-10 0.003954 1.71497e-10 25 29 SP100 6672 broad.mit.edu 37 2 231281027 231281027 + Missense_Mutation SNP G G A rs151275724 by1000genomes TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:231281027G>A uc002vqt.2 + 1 157 c.16G>A c.(16-18)GGC>AGC p.G6S SP100_uc002vqs.2_Missense_Mutation_p.G6S|SP100_uc002vqu.1_Missense_Mutation_p.G6S|SP100_uc010zmb.1_Missense_Mutation_p.G6S|SP100_uc002vqq.1_Missense_Mutation_p.G6S|SP100_uc002vqr.1_Missense_Mutation_p.G6S|SP100_uc010zmc.1_Missense_Mutation_p.G6S|SP100_uc002vqv.1_5'Flank NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 6 Poly-Gly. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGTGGGGGCGGCGACCTGAG 0.592 NaN 0 0 0 0.004482 0 6 23 FARP2 9855 broad.mit.edu 37 2 242433449 242433449 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:242433449G>A uc002wbi.1 + 27 3191 c.3074G>A c.(3073-3075)AGC>AAC p.S1025N NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 1025 PH 2. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CAGGGGGCCAGCAGCTCAGCC 0.632 NaN 0 0 0 0.009535 0 30 65 RALGAPA2 57186 broad.mit.edu 37 20 20506951 20506951 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr20:20506951G>C uc002wrz.2 - 28 3781 c.3638C>G c.(3637-3639)TCC>TGC p.S1213C RALGAPA2_uc010gcx.2_Missense_Mutation_p.S917C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S661C|RALGAPA2_uc002wsa.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1213 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CTCCCAGTAGGAAACCAGCAA 0.408 NaN 0 0 0 0.001368 0 9 31 ZNF337 26152 broad.mit.edu 37 20 25656896 25656896 + Nonsense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr20:25656896G>C uc002wva.2 - 4 1550 c.1028C>G c.(1027-1029)TCA>TGA p.S343* uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.S311*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.S343*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.S343* NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCTCTCCTGAGTGTATTCT 0.498 NaN 0 0 0 0.003755 0 35 53 NCOA6 23054 broad.mit.edu 37 20 33364214 33364214 + Nonsense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr20:33364214C>T uc002xav.2 - 5 2844 c.273G>A c.(271-273)TGG>TGA p.W91* NCOA6_uc002xaw.2_Nonsense_Mutation_p.W91*|NCOA6_uc010gew.1_Nonsense_Mutation_p.W91* NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 91 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GCACGCTGTTCCAGGGCTCCA 0.473 NaN 0 0 0 0.013114 0 39 64 PHF20 51230 broad.mit.edu 37 20 34526618 34526618 + Splice_Site SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr20:34526618G>T uc002xek.1 + 16 2412 c.2301_splice c.e16-1 p.Q767_splice NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CCTCTCAACAGAAGCCGGGAG 0.542 NaN 1 0 4.89347e-83 0.00361 5.38711e-83 148 247 PHF20 51230 broad.mit.edu 37 20 34526935 34526935 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr20:34526935G>A uc002xek.1 + 16 2728 c.2617G>A c.(2617-2619)GAG>AAG p.E873K NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CCCCCTCCATGAGAACGGCGA 0.632 NaN 0 0 0 0.006999 0 38 59 TRAPPC10 7109 broad.mit.edu 37 21 45479022 45479022 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr21:45479022C>T uc002zea.2 + 6 886 c.717C>T c.(715-717)TTC>TTT p.F239F TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Silent_p.F239F NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 239 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TGCAGCAGTTCGAGGACGCCC 0.473 NaN 0 0 0 0.008361 0 22 51 PCNT 5116 broad.mit.edu 37 21 47768968 47768968 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr21:47768968G>C uc002zji.3 + 7 1182 c.1075G>C c.(1075-1077)GAA>CAA p.E359Q PCNT_uc002zjj.2_Missense_Mutation_p.E241Q|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 359 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TTTATGTTTAGAAAATCTACG 0.323 NaN 0 0 0 0.00361 0 41 112 CECR2 27443 broad.mit.edu 37 22 17976513 17976513 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr22:17976513G>C uc010gqw.1 + 2 300 c.174G>C c.(172-174)CTG>CTC p.L58L CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 100 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CCAACCCTCTGAGGGAAGCCA 0.567 NaN 0 0 0 0.010504 0 20 93 TRIOBP 11078 broad.mit.edu 37 22 38119384 38119384 + Missense_Mutation SNP A A C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr22:38119384A>C uc003atr.2 + 7 1092 c.821A>C c.(820-822)GAA>GCA p.E274A TRIOBP_uc003atu.2_Missense_Mutation_p.E102A|TRIOBP_uc003atq.1_Missense_Mutation_p.E274A|TRIOBP_uc003ats.1_Missense_Mutation_p.E102A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 274 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) TCTACACGTGAAATCCCCAGA 0.592 NaN 0 0 0 0.012319 0 19 75 POLDIP3 84271 broad.mit.edu 37 22 42999052 42999052 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr22:42999052C>G uc003bcu.2 - 2 273 c.174G>C c.(172-174)CAG>CAC p.Q58H POLDIP3_uc011app.1_5'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.Q58H|POLDIP3_uc011apq.1_Missense_Mutation_p.Q58H|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.Q58H NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 58 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 GGCCAATCTTCTGCCGGGCAT 0.557 NaN 0 0 0 0.00361 0 49 96 PARVB 29780 broad.mit.edu 37 22 44532339 44532339 + Splice_Site SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr22:44532339G>A uc003ben.2 + 7 686 c.634_splice c.e7-1 p.K212_splice PARVB_uc003bem.2_Splice_Site_p.K245_splice|PARVB_uc010gzn.2_Splice_Site_p.K160_splice|PARVB_uc003beo.2_Splice_Site_p.K175_splice NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) GGGGTTTTCAGAAACGGGAAG 0.542 NaN 0 0 0 0.005443 0 25 69 HDAC10 83933 broad.mit.edu 37 22 50686355 50686355 + Missense_Mutation SNP G G A rs139748706 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr22:50686355G>A uc003bkg.2 - 13 1674 c.1301C>T c.(1300-1302)GCG>GTG p.A434V TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.A160V|HDAC10_uc003bkf.2_Missense_Mutation_p.A160V|HDAC10_uc010hav.2_Missense_Mutation_p.A414V|HDAC10_uc003bkh.2_Missense_Mutation_p.A227V|HDAC10_uc003bki.2_Missense_Mutation_p.A384V|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_Missense_Mutation_p.A68V NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 434 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGGGCTGACGCTTCCTGTTG 0.652 NaN 0 0 0 0.006122 0 17 32 CLASP2 23122 broad.mit.edu 37 3 33552094 33552094 + Missense_Mutation SNP T T A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:33552094T>A uc003cfu.2 - 36 4627 c.4273A>T c.(4273-4275)ACC>TCC p.T1425S CLASP2_uc003cfs.2_Missense_Mutation_p.T632S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1434 ovary(3)|central_nervous_system(1) 4 AGGTTTAGGGTTTCCTTGGAC 0.398 NaN 0 0 0 0.001855 0 8 72 WDR48 57599 broad.mit.edu 37 3 39093559 39093559 + Missense_Mutation SNP G G T rs147741658 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:39093559G>T uc003cit.2 + 1 53 c.43G>T c.(43-45)GTG>TTG p.V15L WDR48_uc011ayt.1_Missense_Mutation_p.V15L|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Missense_Mutation_p.V15L|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 15 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GCGGAGGAAAGTGCAGGTATG 0.662 NaN 1 0 6.50621e-10 0.002836 6.66555e-10 27 60 LZTFL1 54585 broad.mit.edu 37 3 45879482 45879482 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:45879482C>T uc003cox.1 - 2 203 c.65G>A c.(64-66)CGT>CAT p.R22H LZTFL1_uc003coy.1_Missense_Mutation_p.R5H|LZTFL1_uc011bak.1_Intron NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 22 0 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TCTCTTTGAACGAGCAAAACG 0.393 NaN 0 0 0 0.00308 0 6 65 CADPS 8618 broad.mit.edu 37 3 62739220 62739220 + Missense_Mutation SNP C C T rs150415917 byFrequency TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:62739220C>T uc003dll.2 - 3 1144 c.784G>A c.(784-786)GCA>ACA p.A262T CADPS_uc003dlm.2_Missense_Mutation_p.A262T|CADPS_uc003dln.2_Missense_Mutation_p.A262T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 262 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TCGGAGGCTGCGCTGGCTGTC 0.537 NaN 0 0 0 0.00361 0 60 63 TMF1 7110 broad.mit.edu 37 3 69097297 69097297 + Missense_Mutation SNP T T C rs76863529 by1000genomes TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:69097297T>C uc003dnn.2 - 2 806 c.559A>G c.(559-561)ATG>GTG p.M187V TMF1_uc011bfx.1_Missense_Mutation_p.M187V NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 187 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GGCACCTTCATATCCGATTCT 0.393 NaN 0 0 0 0.00361 0 42 144 ARHGAP31 57514 broad.mit.edu 37 3 119134219 119134219 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:119134219C>G uc003ecj.3 + 12 3975 c.3443C>G c.(3442-3444)TCT>TGT p.S1148C NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1148 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 ATGACCTCATCTTACTGTAAA 0.532 NaN 0 0 0 0.00632 0 27 46 PIK3R4 30849 broad.mit.edu 37 3 130449257 130449257 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:130449257G>C uc003enj.2 - 5 2061 c.1480C>G c.(1480-1482)CTG>GTG p.L494V NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 494 HEAT 2. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AGGAATCTCAGAGCTGTTTCT 0.299 NaN 0 0 0 0.00623 0 34 51 TOPBP1 11073 broad.mit.edu 37 3 133362908 133362908 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:133362908C>T uc003eps.2 - 11 1936 c.1804G>A c.(1804-1806)GAA>AAA p.E602K NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 602 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 GCTTCCACTTCACACCCCAGC 0.423 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.00361 0 54 102 CHST2 9435 broad.mit.edu 37 3 142840195 142840195 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:142840195C>T uc003evm.2 + 2 1426 c.537C>T c.(535-537)TTC>TTT p.F179F NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 179 PAPS (Probable).|Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 GCTCGTCGTTCTTCGGCGAGC 0.617 NaN 0 0 0 0.004656 0 26 29 OTOL1 131149 broad.mit.edu 37 3 161221324 161221324 + Nonsense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:161221324C>A uc011bpb.1 + 4 1028 c.1028C>A c.(1027-1029)TCG>TAG p.S343* NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 343 C1q. collagen 0 GTGCCCCGGTCGGCTTTCAGC 0.517 NaN 1 0 5.35356e-11 0.00278 5.55266e-11 18 31 SOX2 6657 broad.mit.edu 37 3 181430953 181430953 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:181430953G>T uc003fkx.2 + 1 1232 c.805G>T c.(805-807)GAC>TAC p.D269Y SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN sex-determining region Y-box 2 269 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) CCAGGCCGGGGACCTCCGGGA 0.682 NaN A NSCLC|oesophageal squamous carcinoma MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 1 0 1.95512e-22 0.00361 2.09716e-22 47 84 TBC1D19 55296 broad.mit.edu 37 4 26675453 26675453 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:26675453C>T uc003gsf.3 + 11 1029 c.759C>T c.(757-759)CCC>CCT p.P253P TBC1D19_uc010iew.2_Silent_p.P253P|TBC1D19_uc011bxu.1_Silent_p.P188P NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 253 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) AAGGAAGTCCCACGGCACTGA 0.408 NaN 0 0 0 0.001984 0 5 43 PDGFRA 5156 broad.mit.edu 37 4 55139760 55139760 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:55139760C>T uc003han.3 + 10 1752 c.1421C>T c.(1420-1422)ACG>ATG p.T474M PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T368M|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 474 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AACATCATCACGGAGATCCAC 0.493 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.00361 0 47 58 C4orf14 84273 broad.mit.edu 37 4 57840060 57840060 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:57840060G>C uc003hck.2 - 2 1348 c.1273C>G c.(1273-1275)CAG>GAG p.Q425E NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 425 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) ACATTAAGCTGATTTTGTTCT 0.368 NaN 0 0 0 0.003271 0 30 121 SCARB2 950 broad.mit.edu 37 4 77102129 77102129 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:77102129C>G uc003hju.1 - 3 740 c.401G>C c.(400-402)AGA>ACA p.R134T SCARB2_uc011cbu.1_Intron NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 134 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) ATTTAATGTTCTAATTAAGTC 0.318 NaN 0 0 0 0.011902 0 38 18 DKK2 27123 broad.mit.edu 37 4 107956668 107956668 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:107956668C>G uc003hyi.2 - 1 786 c.81G>C c.(79-81)CAG>CAC p.Q27H DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.Q27H NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 27 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) AACTGCCGATCTGTGAGCTCT 0.647 NaN 0 0 0 0.009096 0 4 166 SMAD1 4086 broad.mit.edu 37 4 146463782 146463782 + Missense_Mutation SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:146463782A>G uc003ikc.2 + 4 1123 c.707A>G c.(706-708)CAG>CGG p.Q236R SMAD1_uc003ikd.2_Missense_Mutation_p.Q236R|SMAD1_uc010iov.2_Missense_Mutation_p.Q236R|SMAD1_uc011cic.1_Intron NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 236 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) CCCATGACCCAGGATGGCTCT 0.468 NaN 0 0 0 0.010504 0 19 384 TLL1 7092 broad.mit.edu 37 4 166935664 166935664 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:166935664C>G uc003irh.1 + 8 1641 c.994C>G c.(994-996)CTA>GTA p.L332V TLL1_uc011cjn.1_Missense_Mutation_p.L332V|TLL1_uc011cjo.1_Missense_Mutation_p.L156V NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 332 Metalloprotease (By similarity). 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) GCGAACCCGTCTAAGCAAAGG 0.463 NaN 0 0 0 0.000602 0 4 184 TLR3 7098 broad.mit.edu 37 4 187004826 187004826 + Silent SNP C C T rs149490656 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:187004826C>T uc003iyq.2 + 4 2087 c.1986C>T c.(1984-1986)AAC>AAT p.N662N TLR3_uc011ckz.1_Silent_p.N385N|TLR3_uc003iyr.2_Silent_p.N385N NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 662 Lumenal (Potential).|LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ATTGGATTAACGAGACCCATA 0.443 NaN 0 0 0 0.00361 0 89 65 KIAA0947 23379 broad.mit.edu 37 5 5476116 5476116 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:5476116G>C uc003jdm.3 + 17 6666 c.6444G>C c.(6442-6444)TGG>TGC p.W2148C NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2148 ovary(1)|central_nervous_system(1) 2 TGGATAAATGGATAAAATACA 0.313 NaN 0 0 0 0.009096 0 3 38 ADCY2 108 broad.mit.edu 37 5 7773125 7773125 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:7773125C>T uc003jdz.1 + 18 2362 c.2295C>T c.(2293-2295)ATC>ATT p.I765I ADCY2_uc011cmo.1_Silent_p.I585I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 765 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AGATGTTGATCATGATGGTGG 0.527 NaN 0 0 0 0.00361 0 47 199 ITGA2 3673 broad.mit.edu 37 5 52351969 52351969 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:52351969C>T uc003joy.2 + 9 1229 c.1086C>T c.(1084-1086)TTC>TTT p.F362F ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.F286F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 362 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AACAAATTTTCAGCATTGAAG 0.299 NaN 0 0 0 0.010504 0 19 54 RAB3C 115827 broad.mit.edu 37 5 58021940 58021940 + Nonsense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:58021940C>T uc003jrp.2 + 3 461 c.364C>T c.(364-366)CAA>TAA p.Q122* NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 122 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) CAATGCAGTACAAGATTGGTA 0.398 NaN 0 0 0 0.005443 0 26 48 CDK7 1022 broad.mit.edu 37 5 68531243 68531243 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:68531243G>C uc003jvs.3 + 2 270 c.89G>C c.(88-90)AGA>ACA p.R30T CDK7_uc010ixd.1_Missense_Mutation_p.R30T|CDK7_uc003jvt.3_5'UTR|CDK7_uc003jvu.3_5'UTR NM_001799 NP_001790 P50613 CDK7_HUMAN cyclin-dependent kinase 7 30 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity lung(1) 1 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) TACAAGGCCAGAGATAAGAAC 0.333 NaN NER 0 0 0 0.007413 0 16 42 CCDC125 202243 broad.mit.edu 37 5 68616096 68616096 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:68616096C>G uc003jvv.1 - 1 315 c.272G>C c.(271-273)AGA>ACA p.R91T CCDC125_uc003jvx.1_Missense_Mutation_p.R91T|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.R91T NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 91 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) ATTGGAAATTCTGGACACTTG 0.418 NaN 0 0 0 0.00361 0 71 139 RIOK2 55781 broad.mit.edu 37 5 96500768 96500768 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:96500768G>A uc003kmz.2 - 9 1591 c.1481C>T c.(1480-1482)TCA>TTA p.S494L NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 494 Protein kinase. ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) AGGAATTGTTGAACAGCTTAC 0.358 NaN 0 0 0 0.010818 0 27 58 CSNK1G3 1456 broad.mit.edu 37 5 122881389 122881389 + Nonsense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:122881389C>G uc003ktm.2 + 2 751 c.32C>G c.(31-33)TCA>TGA p.S11* CSNK1G3_uc003ktl.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003ktn.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003kto.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Nonsense_Mutation_p.S11* NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 isoform 1 11 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) AAGGACAAATCAGATGATAGA 0.408 NaN 0 0 0 0.001368 0 11 33 CHSY3 337876 broad.mit.edu 37 5 129520128 129520128 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:129520128G>A uc003kvd.2 + 3 1293 c.1293G>A c.(1291-1293)ATG>ATA p.M431I NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 431 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GTGCCCTGATGAGCAAGCTCA 0.502 NaN 0 0 0 0.010729 0 9 86 KLHL3 26249 broad.mit.edu 37 5 136969816 136969816 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:136969816G>A uc010jek.2 - 12 1804 c.1360C>T c.(1360-1362)CGC>TGC p.R454C KLHL3_uc011cyc.1_Missense_Mutation_p.R189C|KLHL3_uc003lbr.3_Missense_Mutation_p.R372C|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.R189C NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 454 Kelch 4. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) AGACACTGGCGGGAAGCTCCA 0.557 NaN 0 0 0 0.004672 0 3 92 WNT8A 7478 broad.mit.edu 37 5 137426224 137426224 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:137426224G>A uc003lcd.1 + 6 523 c.518G>A c.(517-519)AGA>AAA p.R173K BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.R191K|WNT8A_uc011cyk.1_Missense_Mutation_p.R191K NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 173 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAGGCAGTGAGAGCCACCATG 0.453 NaN 0 0 0 0.004656 0 21 30 PCDHA10 56139 broad.mit.edu 37 5 140237156 140237156 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:140237156C>T uc003lhx.2 + 1 1523 c.1523C>T c.(1522-1524)TCG>TTG p.S508L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S508L|PCDHA10_uc011dad.1_Missense_Mutation_p.S508L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 508 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTACGTGTCGGTGCACGCG 0.692 NaN 0 0 0 0.00361 0 44 116 PCDHB9 56127 broad.mit.edu 37 5 140569145 140569145 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:140569145G>A uc003liw.1 + 3 2254 c.2254G>A c.(2254-2256)GAG>AAG p.E752K PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 752 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCAGTACGAGGTGTGTCT 0.622 NaN 0 0 0 0.00361 0 71 170 PCDHB9 56127 broad.mit.edu 37 5 140569220 140569220 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:140569220C>T uc003liw.1 + 3 2329 c.2329C>T c.(2329-2331)CAT>TAT p.H777Y PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 777 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCCGCCCCATAGGGGTGG 0.463 NaN 0 0 0 0.00361 0 45 96 PCDHGA10 56106 broad.mit.edu 37 5 140793096 140793096 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:140793096G>A uc003lkl.1 + 1 354 c.354G>A c.(352-354)GTG>GTA p.V118V 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_uc011day.1_Silent_p.V118V NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 118 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACAGGGTGAAACTTTTTG 0.463 NaN 0 0 0 0.010504 0 19 32 GPR151 134391 broad.mit.edu 37 5 145894805 145894805 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:145894805G>C uc003lod.1 - 1 872 c.872C>G c.(871-873)TCT>TGT p.S291C NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 291 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGACTTGAGACAGGGCTAT 0.502 NaN 0 0 0 0.007413 0 17 38 ZFP2 80108 broad.mit.edu 37 5 178359437 178359437 + Missense_Mutation SNP A A T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:178359437A>T uc003mjn.1 + 5 1632 c.1123A>T c.(1123-1125)ATT>TTT p.I375F ZFP2_uc010jky.2_Missense_Mutation_p.I375F|ZFP2_uc010jkx.1_Missense_Mutation_p.I375F NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 375 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GCATCAGGTCATTCACACTGG 0.423 NaN 0 0 0 0.010729 0 9 82 MAML1 9794 broad.mit.edu 37 5 179201773 179201773 + Silent SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr5:179201773G>T uc003mkm.2 + 5 3209 c.2946G>T c.(2944-2946)GGG>GGT p.G982G MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 982 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGGCAGTGGGCTCTCTAGTG 0.627 NaN 1 0 1.37657e-19 0.012319 1.46406e-19 22 52 BTN2A2 10385 broad.mit.edu 37 6 26393028 26393028 + Missense_Mutation SNP T T C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:26393028T>C uc003nhq.2 + 8 1491 c.1405T>C c.(1405-1407)TAC>CAC p.Y469H BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.Y353H|BTN2A2_uc011dkh.1_Missense_Mutation_p.Y259H|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.Y469H|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 469 B30.2/SPRY.|Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 ATCGCACATCTACACATGTCC 0.542 NaN 0 0 0 0.001368 0 10 80 TNXB 7148 broad.mit.edu 37 6 31977552 31977552 + Silent SNP C C G rs77471377 TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:31977552C>G uc011dpc.1 - 12 2352 c.1443G>C c.(1441-1443)CGG>CGC p.R481R NM_032470 NP_115859 P22105 TENX_HUMAN tenascin XB isoform 2 4097 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGGGCCGCTCCCGGTTGCCGT 0.667 NaN 0 0 0 0.001168 0 3 31 CUL7 9820 broad.mit.edu 37 6 43011253 43011253 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:43011253G>A uc003otq.2 - 17 3591 c.3288C>T c.(3286-3288)CTC>CTT p.L1096L CUL7_uc010jyg.2_Silent_p.L375L|CUL7_uc011dvb.1_Silent_p.L1180L|CUL7_uc010jyh.2_Silent_p.L89L|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1096 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) GCAGGTGAGTGAGACGGCGCA 0.647 NaN 0 0 0 0.00361 0 79 12 RIMS1 22999 broad.mit.edu 37 6 73110200 73110200 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:73110200G>C uc003pga.2 + 34 4940 c.4863G>C c.(4861-4863)GTG>GTC p.V1621V RIMS1_uc011dyb.1_Silent_p.V1018V|RIMS1_uc003pgc.2_Silent_p.V1036V|RIMS1_uc010kaq.2_Silent_p.V941V|RIMS1_uc011dyc.1_Silent_p.V746V|RIMS1_uc010kar.2_Silent_p.V689V|RIMS1_uc011dyd.1_Silent_p.V755V|RIMS1_uc003pgf.2_Silent_p.V621V|RIMS1_uc003pgg.2_Silent_p.V517V|RIMS1_uc003pgi.2_Silent_p.V437V|RIMS1_uc003pgh.2_Silent_p.V488V|RIMS1_uc003pgd.2_Silent_p.V687V|RIMS1_uc003pge.2_Silent_p.V661V|RIMS1_uc011dye.1_Silent_p.V427V|RIMS1_uc011dyf.1_Silent_p.V245V|RIMS1_uc011dyg.1_Silent_p.V148V NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1621 C2 2. 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) CTCTGCAGGTGATTGTCTGGG 0.478 NaN 0 0 0 0.010729 0 11 43 DOPEY1 23033 broad.mit.edu 37 6 83818645 83818645 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:83818645C>G uc003pjs.1 + 5 597 c.337C>G c.(337-339)CTT>GTT p.L113V DOPEY1_uc011dyy.1_Missense_Mutation_p.L113V|DOPEY1_uc010kbl.1_Missense_Mutation_p.L113V NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 113 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATTATTTCCTCTTCTTGCAAA 0.313 NaN 0 0 0 0.007291 0 24 56 KLHL32 114792 broad.mit.edu 37 6 97561859 97561859 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:97561859C>T uc010kcm.1 + 7 1300 c.828C>T c.(826-828)GTC>GTT p.V276V KLHL32_uc003poy.2_Silent_p.V276V|KLHL32_uc011ead.1_Silent_p.V240V|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.V207V|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 276 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CACAGCCTGTCTGGCAGACTC 0.542 NaN 0 0 0 0.004878 0 31 43 FIG4 9896 broad.mit.edu 37 6 110110816 110110816 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:110110816G>A uc003ptt.2 + 19 2331 c.2116G>A c.(2116-2118)GTT>ATT p.V706I FIG4_uc011eau.1_Missense_Mutation_p.V429I NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 706 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCCTAAGACCGTTGGAATTGA 0.358 NaN 0 0 0 0.007291 0 22 63 SYNE1 23345 broad.mit.edu 37 6 152772267 152772267 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:152772267G>A uc010kiw.2 - 26 3703 c.3101C>T c.(3100-3102)TCT>TTT p.S1034F SYNE1_uc003qot.3_Missense_Mutation_p.S1041F|SYNE1_uc003qou.3_Missense_Mutation_p.S1034F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1017F|SYNE1_uc003qow.2_Missense_Mutation_p.S329F|SYNE1_uc003qox.1_Missense_Mutation_p.S550F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1034 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTTCTACAGAGGCTAAGAA 0.443 NaN HNSCC(10;0.0054) 0 0 0 0.00623 0 37 70 EZR 7430 broad.mit.edu 37 6 159192335 159192335 + Missense_Mutation SNP G G C rs139648265 byFrequency TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:159192335G>C uc003qrt.3 - 8 1115 c.900C>G c.(898-900)ATC>ATG p.I300M EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.I268M|EZR_uc003qru.3_Missense_Mutation_p.I300M NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 300 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GCTGCACCTCGATGGTGTCAG 0.597 NaN 0 0 0 0.007413 0 17 46 PNLDC1 154197 broad.mit.edu 37 6 160239602 160239602 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:160239602C>T uc003qsx.1 + 16 1311 c.1140C>T c.(1138-1140)CCC>CCT p.P380P PNLDC1_uc003qsy.1_Silent_p.P391P NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 380 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACCCCGTGCCCGAGTCATCCT 0.552 NaN 0 0 0 0.012319 0 18 37 DLL1 28514 broad.mit.edu 37 6 170597419 170597419 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr6:170597419C>T uc003qxm.2 - 4 1048 c.578G>A c.(577-579)CGT>CAT p.R193H DLL1_uc011ehc.1_Missense_Mutation_p.R193H NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 193 Extracellular (Potential).|DSL. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GTCCCGGGGACGGCAGAAAAC 0.622 NaN 0 0 0 0.012213 0 24 49 MICALL2 79778 broad.mit.edu 37 7 1487240 1487240 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:1487240C>T uc003skj.3 - 4 643 c.496G>A c.(496-498)GAG>AAG p.E166K NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 166 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCTGCACCCTCATTCCTCCTC 0.677 NaN 0 0 0 0.006214 0 6 16 MICALL2 79778 broad.mit.edu 37 7 1487250 1487250 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:1487250C>G uc003skj.3 - 4 633 c.486G>C c.(484-486)CAG>CAC p.Q162H NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 162 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CATTCCTCCTCTGGACCACAG 0.672 NaN 0 0 0 0.006214 0 6 15 DFNA5 1687 broad.mit.edu 37 7 24745981 24745981 + Silent SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:24745981G>T uc010kus.1 - 8 1093 c.1005C>A c.(1003-1005)GTC>GTA p.V335V DFNA5_uc003swz.2_Silent_p.V171V|DFNA5_uc003sxa.1_Silent_p.V335V|DFNA5_uc010kut.1_Silent_p.V171V NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 335 sensory perception of sound ovary(1) 1 AGAGGCCGCTGACCAGGTCAT 0.647 NaN 1 0 6.32553e-13 0.004656 6.588e-13 21 14 NFE2L3 9603 broad.mit.edu 37 7 26224981 26224981 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:26224981G>A uc003sxq.2 + 4 1935 c.1663G>A c.(1663-1665)GTC>ATC p.V555I NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 555 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 AGATGAAATTGTCGGCATGCC 0.398 NaN 0 0 0 0.001855 0 11 81 LOC402644 402644 broad.mit.edu 37 7 28319234 28319234 + Missense_Mutation SNP A A C rs177484 by1000genomes TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:28319234A>C uc010kuz.1 - 1 85 c.85T>G c.(85-87)TTT>GTT p.F29V NM_001126493 NP_001119965 hypothetical protein LOC402644 0 GTCTTTGGAAACTTTTCTGCA 0.468 NaN 0 0 0 0.009096 0 3 62 AMPH 273 broad.mit.edu 37 7 38543250 38543250 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:38543250C>T uc003tgu.2 - 3 274 c.205G>A c.(205-207)GGC>AGC p.G69S AMPH_uc003tgv.2_Missense_Mutation_p.G69S NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 69 BAR.|Potential. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TACACATTACCTTTGATTGCT 0.393 NaN 0 0 0 0.00361 0 129 87 IKZF1 10320 broad.mit.edu 37 7 50468280 50468280 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:50468280C>T uc003tow.3 + 9 1683 c.1515C>T c.(1513-1515)TTC>TTT p.F505F IKZF1_uc003tox.3_Silent_p.F463F|IKZF1_uc003toy.3_Silent_p.F463F|IKZF1_uc011kck.1_Silent_p.F418F|IKZF1_uc003toz.3_Silent_p.F475F|IKZF1_uc010kyx.2_Silent_p.F245F|IKZF1_uc003tpa.3_Silent_p.F247F NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 505 C2H2-type 6. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGTACGAGTTCTCGTCGCACA 0.607 NaN D ALL 0 0 0 0.009535 0 24 46 GRB10 2887 broad.mit.edu 37 7 50660679 50660679 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:50660679G>C uc003tpi.2 - 16 1786 c.1755C>G c.(1753-1755)CTC>CTG p.L585L GRB10_uc003tph.3_Silent_p.L527L|GRB10_uc003tpj.2_Silent_p.L539L|GRB10_uc003tpk.2_Silent_p.L585L|GRB10_uc010kzb.2_Silent_p.L527L|GRB10_uc003tpl.2_Silent_p.L579L|GRB10_uc003tpm.2_Silent_p.L527L|GRB10_uc003tpn.2_Silent_p.L527L NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 585 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) AGTGGTGCTTGAGTTTGCAAG 0.522 NaN Russell-Silver_syndrome 0 0 0 0.00361 0 88 106 AUTS2 26053 broad.mit.edu 37 7 70255920 70255920 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:70255920C>T uc003tvw.3 + 19 4461 c.3718C>T c.(3718-3720)CTG>TTG p.L1240L AUTS2_uc003tvx.3_Silent_p.L1216L|AUTS2_uc011keg.1_Silent_p.L692L NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1240 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GACGACTCCTCTGTCCGCAGA 0.622 NaN 0 0 0 0.001855 0 13 15 TYW1B 441250 broad.mit.edu 37 7 72193853 72193853 + Nonsense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:72193853G>A uc011kej.1 - 12 1288 c.1129C>T c.(1129-1131)CAG>TAG p.Q377* TYW1B_uc011keh.1_Nonsense_Mutation_p.Q215*|TYW1B_uc011kei.1_Nonsense_Mutation_p.Q3*|TYW1B_uc011kek.1_RNA NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 377 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 ATTTCAGGCTGGTCCATCTTC 0.423 NaN 0 0 0 0.006122 0 13 9 ST7 7982 broad.mit.edu 37 7 116859168 116859168 + Missense_Mutation SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:116859168A>G uc003vin.2 + 14 1650 c.1436A>G c.(1435-1437)AAG>AGG p.K479R ST7_uc011knl.1_Missense_Mutation_p.K456R|ST7_uc003vio.2_Missense_Mutation_p.K456R|ST7_uc003viq.2_Missense_Mutation_p.K433R|ST7_uc011knm.1_Missense_Mutation_p.K436R|ST7_uc003vir.2_Missense_Mutation_p.K399R|ST7_uc011knn.1_Missense_Mutation_p.K427R NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 479 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCCTTGGAAAAGGGGCACCTA 0.453 NaN 0 0 0 0.001168 0 3 192 CFTR 1080 broad.mit.edu 37 7 117232685 117232685 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:117232685G>A uc003vjd.2 + 14 2596 c.2464G>A c.(2464-2466)GAA>AAA p.E822K CFTR_uc011knq.1_Missense_Mutation_p.E228K NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 822 Cytoplasmic (Potential). E -> K (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GGAAATAAGTGAAGAAATTAA 0.403 NaN Cystic_Fibrosis 0 0 0 0.005443 0 21 63 C7orf58 79974 broad.mit.edu 37 7 120782154 120782154 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:120782154C>A uc003vjq.3 + 16 2461 c.2014C>A c.(2014-2016)CTG>ATG p.L672M C7orf58_uc003vjs.3_Missense_Mutation_p.L672M|C7orf58_uc003vjt.3_Missense_Mutation_p.L452M NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 672 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CCGCCCAAGTCTGCCCTTGTT 0.443 NaN 1 0 4.83814e-26 0.00361 5.2119e-26 58 135 GPR37 2861 broad.mit.edu 37 7 124404068 124404068 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:124404068G>A uc003vli.2 - 1 1614 c.963C>T c.(961-963)CAC>CAT p.H321H NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 321 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TGGTCAGCTCGTGGAAGATGA 0.522 NaN 0 0 0 0.004482 0 6 192 MKRN1 23608 broad.mit.edu 37 7 140159649 140159649 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:140159649G>C uc003vvt.2 - 3 627 c.402C>G c.(400-402)CTC>CTG p.L134L MKRN1_uc003vvs.2_Silent_p.L70L|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.L134L|MKRN1_uc003vvu.3_Silent_p.L70L NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 134 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CTATCGATGAGAGACTTGAGG 0.413 NaN 0 0 0 0.004878 0 32 87 ZNF425 155054 broad.mit.edu 37 7 148802225 148802225 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:148802225G>C uc003wfj.2 - 4 811 c.738C>G c.(736-738)TTC>TTG p.F246L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 246 C2H2-type 2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CACTGCACTGGAACCGCTTCT 0.582 NaN 0 0 0 0.00632 0 24 57 ZNF467 168544 broad.mit.edu 37 7 149463272 149463272 + Missense_Mutation SNP C C G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr7:149463272C>G uc003wgd.2 - 5 460 c.319G>C c.(319-321)GAG>CAG p.E107Q ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCGACCTCCTCTTCTGCCTCC 0.572 NaN 0 0 0 0.007835 0 34 44 USP17L2 377630 broad.mit.edu 37 8 11995859 11995859 + Silent SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:11995859G>A uc003wvc.1 - 1 411 c.411C>T c.(409-411)CAC>CAT p.H137H FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 137 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 GACCAGGACTGTGGAGGGCCC 0.532 NaN 0 0 0 0.006122 0 12 29 ARFGEF1 10565 broad.mit.edu 37 8 68150646 68150646 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:68150646C>T uc003xxo.1 - 22 3611 c.3221G>A c.(3220-3222)CGA>CAA p.R1074Q ARFGEF1_uc003xxl.1_Missense_Mutation_p.R528Q|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R57Q NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1074 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTCTCTGCCTCGCACTGTTCC 0.403 NaN 0 0 0 0.00361 0 41 84 ARFGEF1 10565 broad.mit.edu 37 8 68150723 68150723 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:68150723C>T uc003xxo.1 - 22 3534 c.3144G>A c.(3142-3144)CTG>CTA p.L1048L ARFGEF1_uc003xxl.1_Silent_p.L502L|ARFGEF1_uc003xxn.1_Silent_p.L31L NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1048 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TGATGCACTTCAGAATCTTAA 0.368 NaN 0 0 0 0.008871 0 20 32 ZFHX4 79776 broad.mit.edu 37 8 77767807 77767807 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:77767807C>A uc003yav.2 + 10 8902 c.8515C>A c.(8515-8517)CAA>AAA p.Q2839K ZFHX4_uc003yau.1_Missense_Mutation_p.Q2884K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2839K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2839 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGACCACGACCAAAGCTTTTA 0.522 NaN HNSCC(33;0.089) 1 0 1.90627e-21 0.012319 2.03606e-21 17 37 PKIA 5569 broad.mit.edu 37 8 79513978 79513978 + Missense_Mutation SNP A A T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:79513978A>T uc003yba.2 + 4 677 c.153A>T c.(151-153)GAA>GAT p.E51D PKIA_uc003ybb.2_Missense_Mutation_p.E51D|PKIA_uc010lzo.2_Missense_Mutation_p.E51D NM_006823 NP_006814 P61925 IPKA_HUMAN cAMP-dependent protein kinase inhibitor alpha 51 cAMP-dependent protein kinase inhibitor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CTTTTGCAGAAGGTGAAGAAG 0.383 NaN 0 0 0 0.002299 0 21 25 SPAG1 6674 broad.mit.edu 37 8 101251630 101251630 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:101251630G>C uc003yjh.1 + 17 2364 c.2278G>C c.(2278-2280)GAG>CAG p.E760Q SPAG1_uc003yji.1_Missense_Mutation_p.E760Q NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 760 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TGAGATTCAAGAGGTATTTGT 0.353 NaN 0 0 0 0.004289 0 32 53 DPYS 1807 broad.mit.edu 37 8 105436562 105436562 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:105436562G>A uc003yly.3 - 7 1277 c.1148C>T c.(1147-1149)GCC>GTC p.A383V NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 383 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAAAATTTTGGCTGCATTTGT 0.348 NaN 0 0 0 0.006214 0 9 80 TRPS1 7227 broad.mit.edu 37 8 116616680 116616680 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:116616680C>T uc003ynz.2 - 3 1936 c.1477G>A c.(1477-1479)GAG>AAG p.E493K TRPS1_uc011lhy.1_Missense_Mutation_p.E497K|TRPS1_uc003yny.2_Missense_Mutation_p.E506K|TRPS1_uc010mcy.2_Missense_Mutation_p.E493K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 493 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTCATTGTCTCTCCTTCTGAA 0.463 NaN Langer-Giedion_syndrome 0 0 0 0.006214 0 10 119 UNC13B 10497 broad.mit.edu 37 9 35400365 35400365 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:35400365C>T uc003zwq.2 + 36 4454 c.4162C>T c.(4162-4164)CGC>TGC p.R1388C UNC13B_uc003zwr.2_Missense_Mutation_p.R1388C NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1388 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCAGTCTCTACGCTATGCCCT 0.522 NaN 0 0 0 0.00361 0 119 174 TJP2 9414 broad.mit.edu 37 9 71844153 71844153 + Nonsense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:71844153G>T uc004ahe.2 + 10 1707 c.1507G>T c.(1507-1509)GAA>TAA p.E503* TJP2_uc011lrs.1_Nonsense_Mutation_p.E480*|TJP2_uc011lrt.1_Nonsense_Mutation_p.E480*|TJP2_uc004ahd.2_Nonsense_Mutation_p.E503*|TJP2_uc004ahf.2_Nonsense_Mutation_p.E503*|TJP2_uc011lru.1_Nonsense_Mutation_p.E507*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E525* NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 503 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 TCCTGAAGATGAAGCAATATA 0.423 NaN 1 0 6.23295e-54 0.00361 6.83175e-54 102 50 GALNT12 79695 broad.mit.edu 37 9 101570311 101570311 + Missense_Mutation SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:101570311A>G uc004ayz.2 + 1 331 c.331A>G c.(331-333)ATC>GTC p.I111V NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 111 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) CAGCGACCGCATCTCACTGCA 0.692 NaN 0 0 0 0.001168 0 5 5 INVS 27130 broad.mit.edu 37 9 103002414 103002414 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:103002414G>T uc004bap.1 + 6 900 c.688G>T c.(688-690)GCT>TCT p.A230S INVS_uc010mta.1_Missense_Mutation_p.A134S|INVS_uc011lve.1_Missense_Mutation_p.A134S|INVS_uc004bao.1_Missense_Mutation_p.A230S|INVS_uc004baq.1_Missense_Mutation_p.A134S|INVS_uc004bar.1_Missense_Mutation_p.A134S|INVS_uc010mtb.1_5'UTR NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 230 ANK 7. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) CTTTGCAGTTGCTGATGGGAA 0.463 NaN 1 0 4.11147e-13 0.003755 4.29992e-13 32 59 C9orf78 51759 broad.mit.edu 37 9 132590500 132590500 + Silent SNP G G A rs147768922 byFrequency TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:132590500G>A uc004byp.2 - 9 882 c.810C>T c.(808-810)AAC>AAT p.N270N C9orf78_uc004byo.2_Missense_Mutation_p.T185M NM_016520 NP_057604 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 270 0 Ovarian(14;0.00556) TTGCCTTCTCGTTAGCAGGAC 0.413 NaN 0 0 0 0.00361 0 57 69 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr9:137328351C>A uc004cfb.2 + 10 1442 c.1280C>A c.(1279-1281)TCC>TAC p.S427Y RXRA_uc004cfc.1_Missense_Mutation_p.S330Y NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 1 0 3.47803e-31 0.00361 3.76287e-31 72 36 WWC3 55841 broad.mit.edu 37 X 10093067 10093067 + Silent SNP C C T rs11544574 byFrequency TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrX:10093067C>T uc004csx.3 + 14 2028 c.1830C>T c.(1828-1830)CGC>CGT p.R610R WWC3_uc010nds.2_Silent_p.R274R|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 610 ovary(4) 4 TTCCTAGGCGCGACAGTGGCA 0.607 NaN 0 0 0 0.00245 0 14 27 BMX 660 broad.mit.edu 37 X 15526533 15526533 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrX:15526533G>C uc004cww.2 + 2 245 c.57G>C c.(55-57)AAG>AAC p.K19N BMX_uc004cwx.3_Missense_Mutation_p.K19N|BMX_uc004cwy.3_Missense_Mutation_p.K19N NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 19 PH. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AGCAAAAGAAGAAAATGTCAC 0.294 NaN 0 0 0 0.00361 0 47 8 KDM6A 7403 broad.mit.edu 37 X 44969327 44969327 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrX:44969327G>A uc004dge.3 + 28 4384 c.4009G>A c.(4009-4011)GAG>AAG p.E1337K KDM6A_uc011mkz.1_Missense_Mutation_p.E1389K|KDM6A_uc011mla.1_Missense_Mutation_p.E1292K|KDM6A_uc011mlb.1_Missense_Mutation_p.E1344K|KDM6A_uc011mlc.1_Missense_Mutation_p.E1041K|KDM6A_uc011mld.1_Missense_Mutation_p.E976K NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1337 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AAAACAGGTGGAGGTTTTTGA 0.348 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.004289 0 32 11 AFF2 2334 broad.mit.edu 37 X 148072790 148072790 + Missense_Mutation SNP C C A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrX:148072790C>A uc004fcp.2 + 21 4343 c.3864C>A c.(3862-3864)AGC>AGA p.S1288R AFF2_uc004fcq.2_Missense_Mutation_p.S1278R|AFF2_uc004fcr.2_Missense_Mutation_p.S1249R|AFF2_uc011mxb.1_Missense_Mutation_p.S1253R|AFF2_uc004fcs.2_Missense_Mutation_p.S1253R|AFF2_uc011mxc.1_Missense_Mutation_p.S929R NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1288 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCCAGCACAGCAGCATGACCA 0.493 NaN 1 0 1.41595e-48 0.00361 1.54523e-48 55 97 ATP2B3 492 broad.mit.edu 37 X 152815032 152815032 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrX:152815032C>T uc004fht.1 + 9 1542 c.1416C>T c.(1414-1416)TCC>TCT p.S472S ATP2B3_uc004fhs.1_Silent_p.S472S NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 472 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCATCTGCTCCGACAAGACGG 0.607 NaN 0 0 0 0.00361 0 95 17 UTY 7404 broad.mit.edu 37 Y 15435627 15435627 + Missense_Mutation SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrY:15435627G>C uc004fsx.1 - 19 3798 c.2793C>G c.(2791-2793)TTC>TTG p.F931L UTY_uc004fsw.1_Missense_Mutation_p.F594L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Missense_Mutation_p.F931L|UTY_uc004fsz.2_Missense_Mutation_p.F931L NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 931 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TTTTGGTAGAGAAAAGTCCAA 0.318 NaN 0 0 0 0.008871 0 18 3 UTY 7404 broad.mit.edu 37 Y 15466934 15466934 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chrY:15466934C>T uc004fsx.1 - 15 2724 c.1719G>A c.(1717-1719)CTG>CTA p.L573L UTY_uc004fsw.1_Silent_p.L236L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Silent_p.L573L|UTY_uc004fsz.2_Silent_p.L573L NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 573 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGCTGCTGTTCAGGTCTGTAT 0.408 NaN 0 0 0 0.00499 0 13 8 SLC38A2 54407 broad.mit.edu 37 12 46757539 46757540 + Frame_Shift_Ins INS - - A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr12:46757539_46757540insA uc001rpg.2 - 12 1463_1464 c.1023_1024insT c.(1021-1026)CTTGCCfs p.L341fs SLC38A2_uc010sli.1_Frame_Shift_Ins_p.L179fs|SLC38A2_uc001rph.2_Frame_Shift_Ins_p.L241fs NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 341_342 Helical; (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAGAGGGCGGCAAGCAGATACA 0.332 NaN NaN NaN NaN NaN NaN 49 46 --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr13:47243183_47243186delCCTG uc001vbj.2 + 3 707_710 c.471_474delCCTG c.(469-474)GCCCTGfs p.A157fs LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbk.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.3_Frame_Shift_Del_p.A157fs NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 157_158 LRR 3. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 NaN NaN NaN NaN NaN NaN 7 318 --- --- THSD4 79875 broad.mit.edu 37 15 72039168 72039176 + Splice_Site DEL CTGAACCAG CTGAACCAG - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr15:72039168_72039176delCTGAACCAG uc002atb.1 + 12 2116 c.2037_splice c.e12-1 p.F679_splice THSD4_uc002ate.2_Splice_Site_p.F319_splice NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TCTCTCATTCCTGAACCAGCTGGGACATC 0.584 NaN NaN NaN NaN NaN NaN 12 101 --- --- MKL2 57496 broad.mit.edu 37 16 14354763 14354764 + Splice_Site INS - - A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr16:14354763_14354764insA uc010uza.1 + 17 2920 c.2765_splice c.e17-2 p.E922_splice MKL2_uc002dcg.2_Splice_Site_p.E872_splice|MKL2_uc002dcj.2_Splice_Site_p.E167_splice NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 TTATTTTACACAGAGATCTCCC 0.361 NaN NaN NaN NaN NaN NaN 27 81 --- --- FBXW9 84261 broad.mit.edu 37 19 12800930 12800931 + In_Frame_Ins INS - - GAA TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr19:12800930_12800931insGAA uc010dyx.2 - 6 937_938 c.937_938insTTC c.(937-939)CAT>CTTCAT p.312_313insL FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 322_323 protein binding ovary(1) 1 GCCGGCTTCATGGGTGATGGGC 0.634 NaN NaN NaN NaN NaN NaN 23 109 --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr2:26022304_26022306delCTG uc002rgs.2 - 4 572_574 c.351_353delCAG c.(349-354)AGCAGT>AGT p.117_118SS>S NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 117_118 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 NaN NaN NaN NaN NaN NaN 7 312 --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr3:100148586_100148588delGAT uc003dtx.3 + 2 1293_1295 c.13_15delGAT c.(13-15)GATdel p.D10del LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. 0 GGAGCACAAAGATGATGATGATG 0.507 NaN NaN NaN NaN NaN NaN 9 695 --- --- MFSD10 10227 broad.mit.edu 37 4 2932969 2932969 + Frame_Shift_Del DEL C C - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:2932969delC uc003gfw.2 - 10 1461 c.1147delG c.(1147-1149)GTGfs p.V383fs MFSD10_uc003gfv.2_Frame_Shift_Del_p.V73fs|MFSD10_uc003gfx.2_Frame_Shift_Del_p.V207fs|MFSD10_uc003gfz.2_Frame_Shift_Del_p.V383fs|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Frame_Shift_Del_p.P346fs|MFSD10_uc003ggb.1_Frame_Shift_Del_p.V383fs|MFSD10_uc003ggc.2_Intron NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 383 apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCAGCGACCACGGAGGACAGG 0.692 NaN NaN NaN NaN NaN NaN 2 4 --- --- HHIP 64399 broad.mit.edu 37 4 145567851 145567853 + In_Frame_Del DEL GCT GCT - TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr4:145567851_145567853delGCT uc003ijs.1 + 1 679_681 c.24_26delGCT c.(22-27)AAGCTG>AAG p.L12del uc003ijq.1_5'Flank|HHIP_uc003ijr.1_In_Frame_Del_p.L12del NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 12 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCTCCTTTAAGCTGCTGCTGCTG 0.621 NaN OREG0016346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 7 536 --- --- RP1L1 94137 broad.mit.edu 37 8 10467629 10467630 + In_Frame_Ins INS - - TTC rs146656804 by1000genomes TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4ff90f4-7122-475a-84a6-a39cd56c7e46 639c8ae6-127a-474d-b66a-c4a6da661cd7 g.chr8:10467629_10467630insTTC uc003wtc.2 - 4 4207_4208 c.3978_3979insGAA c.(3976-3981)insGAA p.1326_1327insE NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1326_1327 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) ccttcttctgttttagtttcct 0.084 NaN NaN NaN NaN NaN NaN 4 5 --- ---