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 RAP1GAP 5909 broad.mit.edu 37 1 21934840 21934840 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:21934840G>A uc001bex.2 - 17 1420 c.1162C>T c.(1162-1164)CGG>TGG p.R388W RAP1GAP_uc001bev.2_Missense_Mutation_p.R388W|RAP1GAP_uc001bew.2_Missense_Mutation_p.R452W|RAP1GAP_uc001bey.2_Missense_Mutation_p.R388W NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 388 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCCCGCGTCCGCTCCTGTGGG 0.647 NaN 0 0 0 0.004672 0 3 31 TCHHL1 126637 broad.mit.edu 37 1 152058669 152058669 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:152058669C>G uc001ezo.1 - 3 1554 c.1489G>C c.(1489-1491)GAA>CAA p.E497Q NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 497 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGTGTTCTTTCTCTTGCCCCC 0.478 NaN 0 0 0 0.017118 0 33 168 FAM129A 116496 broad.mit.edu 37 1 184787960 184787960 + Splice_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:184787960C>T uc001gra.2 - 9 1180 c.986_splice c.e9-1 p.A329_splice FAM129A_uc001grb.1_Splice_Site_p.A92_splice|FAM129A_uc009wyh.1_Splice_Site_p.A157_splice|FAM129A_uc009wyi.1_Splice_Site_p.A127_splice NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 GCCACCATCGCTGAGGTAGGA 0.562 NaN 0 0 0 0.019004 0 33 114 OBSCN 84033 broad.mit.edu 37 1 228462331 228462331 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:228462331C>T uc009xez.1 + 20 5786 c.5742C>T c.(5740-5742)GGC>GGT p.G1914G OBSCN_uc001hsn.2_Silent_p.G1914G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1914 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGAGGGCGGCGAGGCCACCT 0.627 NaN 0 0 0 0.004482 0 7 16 FAM188A 80013 broad.mit.edu 37 10 15863726 15863726 + Splice_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:15863726C>T uc001iod.1 - 9 952 c.731_splice c.e9-1 p.K244_splice FAM188A_uc001ioe.1_Splice_Site_p.K71_splice|FAM188A_uc001iof.1_Splice_Site_p.K244_splice NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 apoptosis nucleus calcium ion binding ovary(1) 1 CCAAGAAGTTCTGCAAAAAAC 0.289 NaN 0 0 0 0.004482 0 8 28 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:534286C>G uc001lpv.2 - 2 225 c.37G>C c.(37-39)GGT>CGT p.G13R HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 0 0 0 0.006122 0 18 10 TRIM68 55128 broad.mit.edu 37 11 4621770 4621770 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:4621770C>G uc001lzf.1 - 7 1432 c.1194G>C c.(1192-1194)CTG>CTC p.L398L TRIM68_uc001lzg.1_Silent_p.L175L|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 398 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCCCTTCCTCAGCCTTATCA 0.557 NaN 0 0 0 0.020292 0 12 41 C11orf58 10944 broad.mit.edu 37 11 16774368 16774368 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:16774368C>G uc001mmk.2 + 4 423 c.245C>G c.(244-246)TCT>TGT p.S82C C11orf58_uc010rct.1_Missense_Mutation_p.S38C NM_014267 NP_055082 O00193 SMAP_HUMAN small acidic protein isoform a 82 0 GAACTGGAGTCTCAATATCAG 0.348 NaN 0 0 0 0.013114 0 42 7 PTPRJ 5795 broad.mit.edu 37 11 48158582 48158582 + Missense_Mutation SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:48158582T>C uc001ngp.3 + 10 2256 c.1901T>C c.(1900-1902)GTA>GCA p.V634A PTPRJ_uc010rhr.1_Missense_Mutation_p.V79A NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 634 Extracellular (Potential).|Fibronectin type-III 7. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 AACATTGATGTAAGTACCAAC 0.408 NaN 0 0 0 0.00499 0 12 52 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:55541619C>T uc010ril.1 + 1 706 c.706C>T c.(706-708)CGC>TGC p.R236C NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408 NaN 0 0 0 0.016522 0 19 58 ARAP1 116985 broad.mit.edu 37 11 72412694 72412694 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:72412694C>G uc001osu.2 - 16 2491 c.2302G>C c.(2302-2304)GAG>CAG p.E768Q ARAP1_uc001osv.2_Missense_Mutation_p.E768Q|ARAP1_uc001osr.2_Missense_Mutation_p.E528Q|ARAP1_uc001oss.2_Missense_Mutation_p.E523Q|ARAP1_uc009yth.2_Missense_Mutation_p.E462Q|ARAP1_uc010rre.1_Missense_Mutation_p.E523Q|ARAP1_uc001osw.1_Missense_Mutation_p.E56Q NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 768 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TGGCACCCACCTTCCCGGGCC 0.632 NaN 0 0 0 0.028581 0 15 120 SORL1 6653 broad.mit.edu 37 11 121481797 121481797 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:121481797C>T uc001pxx.2 + 39 5332 c.5252C>T c.(5251-5253)CCA>CTA p.P1751L SORL1_uc010rzp.1_Missense_Mutation_p.P597L|SORL1_uc010rzq.1_Missense_Mutation_p.P366L NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1751 Extracellular (Potential).|Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATCCCACCACCAGATATCCAC 0.418 NaN 0 0 0 0.012213 0 29 55 C11orf63 79864 broad.mit.edu 37 11 122756598 122756598 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:122756598C>A uc001pym.2 + 2 338 c.41C>A c.(40-42)TCT>TAT p.S14Y C11orf63_uc001pyl.1_Missense_Mutation_p.S14Y NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 14 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TCTATTCAATCTCCTGTCCTT 0.393 NaN 1 0 4.26978e-12 0.01892 4.71455e-12 21 63 ARID2 196528 broad.mit.edu 37 12 46245523 46245523 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:46245523C>T uc001ros.1 + 15 3617 c.3617C>T c.(3616-3618)ACG>ATG p.T1206M ARID2_uc001ror.2_Missense_Mutation_p.T1206M|ARID2_uc009zkg.1_Missense_Mutation_p.T662M|ARID2_uc009zkh.1_Missense_Mutation_p.T833M|ARID2_uc001rou.1_Missense_Mutation_p.T540M NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1206 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATGAGCGGAACGCAGACAGGA 0.488 NaN 0 0 0 0.016723 0 13 15 HOXC13 3229 broad.mit.edu 37 12 54339012 54339012 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:54339012C>T uc001sei.2 + 2 1080 c.965C>T c.(964-966)TCG>TTG p.S322L HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 322 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GTCAGCAAATCGAAAGCGCCT 0.577 NaN T NUP98 AML 0 0 0 0.016723 0 13 189 UBE3B 89910 broad.mit.edu 37 12 109927742 109927742 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:109927742C>T uc001top.2 + 8 1166 c.563C>T c.(562-564)GCG>GTG p.A188V UBE3B_uc001toq.2_Missense_Mutation_p.A188V|UBE3B_uc001tol.1_Missense_Mutation_p.A188V|UBE3B_uc001tom.2_Missense_Mutation_p.A188V|UBE3B_uc001ton.2_Missense_Mutation_p.A188V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A188V|UBE3B_uc001tor.2_Missense_Mutation_p.A188V NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 188 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CTTCGACCAGCGATGAACCAC 0.443 NaN 0 0 0 0.00499 0 15 188 KDM2B 84678 broad.mit.edu 37 12 121882333 121882333 + Nonsense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:121882333C>A uc001uat.2 - 15 2214 c.2110G>T c.(2110-2112)GAG>TAG p.E704* KDM2B_uc001uaq.2_Nonsense_Mutation_p.E144*|KDM2B_uc010szy.1_Nonsense_Mutation_p.E144*|KDM2B_uc001uar.2_Nonsense_Mutation_p.E295*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E673*|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'Flank|KDM2B_uc010szx.1_5'Flank|KDM2B_uc001uap.2_5'Flank NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 704 PHD-type. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CCCTCTGACTCCTTAATCTGC 0.602 NaN 1 0 0.00400662 0.028581 0.00420497 14 101 OTUD7A 161725 broad.mit.edu 37 15 31818621 31818621 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:31818621G>A uc001zfq.2 - 6 896 c.803C>T c.(802-804)ACG>ATG p.T268M OTUD7A_uc001zfr.2_Missense_Mutation_p.T275M NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 268 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CAGCAGCTCCGTCCACTCCCG 0.682 NaN 0 0 0 0.004482 0 7 35 ARHGAP11A 9824 broad.mit.edu 37 15 32929352 32929352 + Missense_Mutation SNP A A T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:32929352A>T uc001zgy.1 + 12 3100 c.2378A>T c.(2377-2379)AAA>ATA p.K793I ARHGAP11A_uc010ubw.1_Missense_Mutation_p.K604I|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.K604I NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 793 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACATGTGAGAAAACAGTTTCT 0.348 NaN 0 0 0 0.024245 0 14 49 WDR72 256764 broad.mit.edu 37 15 53994342 53994342 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:53994342C>T uc002acj.2 - 12 1600 c.1558G>A c.(1558-1560)GAG>AAG p.E520K WDR72_uc010bfi.1_Missense_Mutation_p.E520K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 520 WD 7. lung(1)|skin(1) 2 all cancers(107;0.0511) TTAAACTTCTCTGGTGACATC 0.294 NaN 0 0 0 0.010729 0 10 64 LDHAL6B 92483 broad.mit.edu 37 15 59499546 59499546 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:59499546C>G uc002agb.2 + 1 505 c.407C>G c.(406-408)GCA>GGA p.A136G MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 136 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) TTTGTCACAGCAAACTCCAAC 0.433 NaN 0 0 0 0.027356 0 26 80 CYP11A1 1583 broad.mit.edu 37 15 74637457 74637457 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:74637457G>A uc002axt.2 - 3 708 c.553C>T c.(553-555)CGC>TGC p.R185C CYP11A1_uc002axs.2_Missense_Mutation_p.R27C|CYP11A1_uc010bjm.1_Missense_Mutation_p.R27C|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.R185C|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Missense_Mutation_p.R185C NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 185 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TTCTTGATGCGCCTGTGCAGG 0.582 NaN 0 0 0 0.014758 0 4 69 RBBP6 5930 broad.mit.edu 37 16 24573026 24573026 + Missense_Mutation SNP T T G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:24573026T>G uc002dmh.2 + 9 1981 c.941T>G c.(940-942)TTT>TGT p.F314C RBBP6_uc010vcb.1_Missense_Mutation_p.F181C|RBBP6_uc002dmi.2_Missense_Mutation_p.F314C|RBBP6_uc010bxr.2_Missense_Mutation_p.F314C|RBBP6_uc002dmk.2_Missense_Mutation_p.F181C NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 314 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GCCAATAAATTTTTACGACAG 0.333 NaN 0 0 0 0.014758 0 5 60 ZNF629 23361 broad.mit.edu 37 16 30794836 30794836 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:30794836G>A uc002dzs.1 - 3 1021 c.813C>T c.(811-813)TTC>TTT p.F271F NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 271 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AGCTGCGGTAGAAAGCCCGGC 0.632 NaN 0 0 0 0.020292 0 13 33 CMTM2 146225 broad.mit.edu 37 16 66621938 66621938 + Silent SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:66621938A>G uc002ept.2 + 4 823 c.663A>G c.(661-663)AAA>AAG p.K221K CMTM2_uc010cdu.2_Silent_p.K168K NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 221 chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) GAAAGGAAAAAGGACCCCAGC 0.522 NaN 0 0 0 0.004672 0 3 73 AP1G1 164 broad.mit.edu 37 16 71798289 71798289 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:71798289C>G uc010cgg.2 - 9 1196 c.882G>C c.(880-882)TTG>TTC p.L294F AP1G1_uc002fba.2_Missense_Mutation_p.L297F|AP1G1_uc002fbb.2_Missense_Mutation_p.L317F|AP1G1_uc010vmg.1_RNA NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 294 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CCATGATAGTCAAAACCGTTT 0.363 NaN 0 0 0 0.00308 0 7 31 GEMIN4 50628 broad.mit.edu 37 17 650821 650821 + Silent SNP G G A rs151264305 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:650821G>A uc002frs.1 - 2 581 c.462C>T c.(460-462)GCC>GCT p.A154A GEMIN4_uc010vqa.1_Silent_p.A154A NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 154 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CCACGTCTTCGGCAGAAGTGT 0.567 NaN 0 0 0 0.00308 0 7 75 DLG4 1742 broad.mit.edu 37 17 7094110 7094110 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:7094110C>T uc002get.3 - 22 3422 c.2221G>A c.(2221-2223)GAG>AAG p.E741K DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E638K|DLG4_uc010cly.2_Missense_Mutation_p.E695K|DLG4_uc010vto.1_Missense_Mutation_p.E738K NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 698 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 TAGATCTCCTCAAAGCTGTCA 0.557 NaN 0 0 0 0.01892 0 23 58 MYH10 4628 broad.mit.edu 37 17 8393774 8393774 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:8393774C>G uc002gll.2 - 33 4771 c.4675G>C c.(4675-4677)GAA>CAA p.E1559Q MYH10_uc002glm.2_Missense_Mutation_p.E1590Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1568Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1559 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 TTGGCATCTTCCGTGGCCTGG 0.542 NaN 0 0 0 0.009096 0 3 96 MYH10 4628 broad.mit.edu 37 17 8449973 8449973 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:8449973C>T uc002gll.2 - 11 1233 c.1137G>A c.(1135-1137)CAG>CAA p.Q379Q MYH10_uc002glm.2_Silent_p.Q389Q|MYH10_uc010cnx.2_Silent_p.Q388Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 379 Myosin head-like. 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 GGCAGAGCTTCTGCGCAACTG 0.418 NaN 0 0 0 0.010729 0 9 28 MPRIP 23164 broad.mit.edu 37 17 17083384 17083384 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:17083384C>T uc002gqu.1 + 22 3083 c.3027C>T c.(3025-3027)CTC>CTT p.L1009L MPRIP_uc002gqv.1_Silent_p.L1009L|MPRIP_uc002gqw.1_Silent_p.L764L|MPRIP_uc002gqx.1_Silent_p.L1238L|MPRIP_uc002gqy.1_Silent_p.L1238L|MPRIP_uc010cpl.1_Silent_p.L195L|MPRIP_uc010cpm.1_Silent_p.L195L NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 1009 cytoplasm|cytoskeleton actin binding 0 CCCGGCAACTCAGAAACATCA 0.488 NaN 0 0 0 0.021553 0 5 25 MPRIP 23164 broad.mit.edu 37 17 17083388 17083388 + Missense_Mutation SNP A A C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:17083388A>C uc002gqu.1 + 22 3087 c.3031A>C c.(3031-3033)AAC>CAC p.N1011H MPRIP_uc002gqv.1_Missense_Mutation_p.N1011H|MPRIP_uc002gqw.1_Missense_Mutation_p.N766H|MPRIP_uc002gqx.1_Missense_Mutation_p.N1240H|MPRIP_uc002gqy.1_Missense_Mutation_p.N1240H|MPRIP_uc010cpl.1_Missense_Mutation_p.N197H|MPRIP_uc010cpm.1_Missense_Mutation_p.N197H NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 1011 cytoplasm|cytoskeleton actin binding 0 GCAACTCAGAAACATCAGGTC 0.493 NaN 0 0 0 0.021553 0 5 25 ZNF207 7756 broad.mit.edu 37 17 30696342 30696342 + Missense_Mutation SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:30696342A>G uc002hhh.3 + 10 1293 c.1145A>G c.(1144-1146)TAT>TGT p.Y382C ZNF207_uc002hhj.3_Missense_Mutation_p.Y398C|ZNF207_uc002hhi.3_Missense_Mutation_p.Y367C|ZNF207_uc010csz.2_Missense_Mutation_p.Y401C|ZNF207_uc002hhk.1_Missense_Mutation_p.Y398C|ZNF207_uc002hhl.1_RNA NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 382 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTACCTAAGTATCAACGTAAT 0.502 NaN 0 0 0 0.007291 0 24 32 CDK5R1 8851 broad.mit.edu 37 17 30815244 30815244 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:30815244C>T uc002hhn.2 + 2 827 c.606C>T c.(604-606)GTC>GTT p.V202V CDK5R1_uc010wca.1_Silent_p.V202V|CDK5R1_uc010ctc.2_Intron NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 202 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CCAACGTGGTCTTCCTCTACA 0.642 NaN 0 0 0 0.020292 0 14 91 TBX4 9496 broad.mit.edu 37 17 59534930 59534930 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:59534930G>C uc002izi.2 + 2 264 c.219G>C c.(217-219)GAG>GAC p.E73D TBX4_uc010ddo.2_Missense_Mutation_p.E73D|TBX4_uc010woy.1_Missense_Mutation_p.E73D NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 73 T-box. leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GGCTGCATGAGAAGGAGCTCT 0.597 NaN 0 0 0 0.004482 0 6 56 POLRMT 5442 broad.mit.edu 37 19 630113 630113 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:630113C>T uc002lpf.1 - 3 305 c.249G>A c.(247-249)GTG>GTA p.V83V NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 83 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCCTGTTCACCACCACCT 0.672 NaN 0 0 0 0.007413 0 18 86 ATP8B3 148229 broad.mit.edu 37 19 1789016 1789016 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:1789016C>G uc002ltw.2 - 24 3183 c.2949G>C c.(2947-2949)CTG>CTC p.L983L ATP8B3_uc002ltv.2_Silent_p.L946L|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 983 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGTGCACCAGCAGGAGGC 0.632 NaN 0 0 0 0.021553 0 5 11 MUC16 94025 broad.mit.edu 37 19 9018160 9018160 + Missense_Mutation SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:9018160T>C uc002mkp.2 - 25 37982 c.37778A>G c.(37777-37779)TAC>TGC p.Y12593C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12595 SEA 4.|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 GCAGCCAGAGTACAGAAGGCC 0.537 NaN 0 0 0 0.013726 0 29 99 TSSK6 83983 broad.mit.edu 37 19 19626255 19626255 + Translation_Start_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:19626255C>T uc002nmr.2 - 1 215 c.-18G>A c.(-20--16)CCGTG>CCATG TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 CTAGGGCGCACGGGGGGCAGG 0.652 NaN 0 0 0 0.008291 0 9 21 ZNF677 342926 broad.mit.edu 37 19 53740952 53740952 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:53740952C>G uc002qbf.1 - 5 1213 c.1028G>C c.(1027-1029)GGA>GCA p.G343A ZNF677_uc002qbg.1_Missense_Mutation_p.G343A NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) AGGTTTCTCTCCAGTATGCAT 0.388 NaN 0 0 0 0.001984 0 6 41 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff 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 71 SMEK2 57223 broad.mit.edu 37 2 55791550 55791550 + Missense_Mutation SNP T T A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:55791550T>A uc002rzc.2 - 15 2534 c.2159A>T c.(2158-2160)GAT>GTT p.D720V SMEK2_uc002rzb.2_Missense_Mutation_p.D635V|SMEK2_uc002rzd.2_Missense_Mutation_p.D688V|SMEK2_uc002ryz.2_Missense_Mutation_p.D147V|SMEK2_uc002rza.2_Missense_Mutation_p.D504V NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 720 Poly-Glu. microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTCTTCTTCATCTTCATTAAA 0.358 NaN 0 0 0 0.020292 0 13 27 FAM119A 151194 broad.mit.edu 37 2 208477805 208477805 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:208477805C>T uc002vcf.2 - 4 782 c.622G>A c.(622-624)GAA>AAA p.E208K FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.E208K|FAM119A_uc002vcg.3_Missense_Mutation_p.E208K NM_145280 NP_660323 Q8WXB1 MT21A_HUMAN hypothetical protein LOC151194 208 integral to membrane methyltransferase activity 0 LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135) TTCTGTGCTTCGTAAATATGT 0.368 NaN 0 0 0 0.010504 0 21 70 TGM6 343641 broad.mit.edu 37 20 2413265 2413265 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr20:2413265C>T uc002wfy.1 + 13 2158 c.2097C>T c.(2095-2097)ATC>ATT p.I699I TGM6_uc010gal.1_3'UTR NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 699 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GCTTTGTGATCGTCCATGTGG 0.552 NaN 0 0 0 0.00499 0 16 95 CTCFL 140690 broad.mit.edu 37 20 56093885 56093885 + Nonsense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr20:56093885G>A uc010gix.1 - 4 1650 c.988C>T c.(988-990)CGA>TGA p.R330* CTCFL_uc010giw.1_Nonsense_Mutation_p.R330*|CTCFL_uc002xym.2_Nonsense_Mutation_p.R330*|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gje.2_Nonsense_Mutation_p.R330*|CTCFL_uc010gjf.2_Nonsense_Mutation_p.R125*|CTCFL_uc010gjg.2_Nonsense_Mutation_p.R62*|CTCFL_uc010gjh.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gji.1_Nonsense_Mutation_p.R125*|CTCFL_uc010gjj.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjk.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjl.1_Nonsense_Mutation_p.R330* NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 330 C2H2-type 3. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CGCCTGTGTCGGACGAGTTCT 0.433 NaN 0 0 0 0.00308 0 7 96 SYNJ1 8867 broad.mit.edu 37 21 34011221 34011221 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr21:34011221C>T uc002yqh.2 - 31 4029 c.4029G>A c.(4027-4029)CCG>CCA p.P1343P SYNJ1_uc011ads.1_Silent_p.P1257P|SYNJ1_uc002yqf.2_Silent_p.P1288P|SYNJ1_uc002yqg.2_Silent_p.P1257P|SYNJ1_uc002yqi.2_Silent_p.P1343P|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1304 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1304P(1) ovary(4)|skin(1) 5 GACTTACTTGCGGTTGTGAGG 0.408 NaN 0 0 0 0.00308 0 4 147 TCF20 6942 broad.mit.edu 37 22 42610592 42610592 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr22:42610592G>A uc003bcj.1 - 1 854 c.720C>T c.(718-720)TCC>TCT p.S240S TCF20_uc003bck.1_Silent_p.S240S|TCF20_uc003bnt.2_Silent_p.S240S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 240 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 aggaggaggaggaAGCAGAAG 0.443 NaN 0 0 0 0.004672 0 3 45 COL7A1 1294 broad.mit.edu 37 3 48623808 48623808 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:48623808C>G uc003ctz.2 - 26 3508 c.3507G>C c.(3505-3507)TTG>TTC p.L1169F NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1169 Nonhelical region (NC1).|VWFA 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTCACCTCTCAAGGGTTCAT 0.587 NaN 0 0 0 0.01441 0 68 200 MON1A 84315 broad.mit.edu 37 3 49947848 49947848 + Silent SNP G G A rs151189958 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:49947848G>A uc003cxz.2 - 4 1500 c.1374C>T c.(1372-1374)GGC>GGT p.G458G MON1A_uc003cya.2_Silent_p.G296G|MON1A_uc003cyb.2_Silent_p.G296G NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 361 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCCAGGCCTCGCCCTCGCGAA 0.597 NaN 0 0 0 0.004482 0 8 43 FLNB 2317 broad.mit.edu 37 3 58154337 58154337 + Missense_Mutation SNP G G A rs142229998 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:58154337G>A uc003djj.2 + 44 7534 c.7369G>A c.(7369-7371)GGT>AGT p.G2457S FLNB_uc010hne.2_Missense_Mutation_p.G2488S|FLNB_uc003djk.2_Missense_Mutation_p.G2446S|FLNB_uc010hnf.2_Missense_Mutation_p.G2433S|FLNB_uc003djl.2_Missense_Mutation_p.G2277S|FLNB_uc003djm.2_Missense_Mutation_p.G2264S|uc003djn.2_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2457 Filamin 23.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGTCAAATACGGTGGGCCCAA 0.532 NaN 0 0 0 0.024245 0 13 48 PDZRN3 23024 broad.mit.edu 37 3 73433185 73433185 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:73433185G>A uc003dpl.1 - 10 2628 c.2532C>T c.(2530-2532)GAC>GAT p.D844D PDZRN3_uc011bgh.1_Silent_p.D501D|PDZRN3_uc010hoe.1_Silent_p.D542D|PDZRN3_uc011bgf.1_Silent_p.D561D|PDZRN3_uc011bgg.1_Silent_p.D564D NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 844 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCCGGCTCCCGTCGCTGGCTC 0.667 NaN 0 0 0 0.007291 0 28 38 FXR1 8087 broad.mit.edu 37 3 180666136 180666136 + Missense_Mutation SNP T T A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:180666136T>A uc003fkq.2 + 5 294 c.272T>A c.(271-273)TTT>TAT p.F91Y FXR1_uc003fkp.2_Missense_Mutation_p.F6Y|FXR1_uc003fkr.2_Missense_Mutation_p.F91Y|FXR1_uc011bqj.1_Missense_Mutation_p.F5Y|FXR1_uc003fks.2_Missense_Mutation_p.F5Y|FXR1_uc011bqk.1_Missense_Mutation_p.F42Y|FXR1_uc011bql.1_Missense_Mutation_p.F78Y NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 91 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GTCTTTTAGTTTTATGTCATT 0.318 NaN 0 0 0 0.021553 0 4 25 CDS1 1040 broad.mit.edu 37 4 85553028 85553028 + Missense_Mutation SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:85553028A>G uc011ccv.1 + 6 1135 c.637A>G c.(637-639)ATG>GTG p.M213V CDS1_uc010ike.1_Missense_Mutation_p.M17V NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 213 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GCAGTTTTATATGGTGTGTAT 0.338 NaN 0 0 0 0.006122 0 16 70 PLK4 10733 broad.mit.edu 37 4 128807800 128807800 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:128807800C>A uc003ifo.2 + 5 1520 c.1275C>A c.(1273-1275)AAC>AAA p.N425K PLK4_uc011cgs.1_Missense_Mutation_p.N393K|PLK4_uc011cgt.1_Missense_Mutation_p.N384K NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 425 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CCACAGACAACAATGCCAACA 0.368 NaN 1 0 0.004672 0.004672 0.00485522 3 37 TLR3 7098 broad.mit.edu 37 4 187005188 187005188 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:187005188C>G uc003iyq.2 + 4 2449 c.2348C>G c.(2347-2349)TCT>TGT p.S783C TLR3_uc011ckz.1_Missense_Mutation_p.S506C|TLR3_uc003iyr.2_Missense_Mutation_p.S506C NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 783 Cytoplasmic (Potential).|TIR. 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) GAAGACCAATCTCTCAAATTT 0.353 NaN 0 0 0 0.00499 0 17 61 PAIP1 10605 broad.mit.edu 37 5 43556029 43556029 + Missense_Mutation SNP A A T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr5:43556029A>T uc003job.2 - 2 585 c.338T>A c.(337-339)ATG>AAG p.M113K PAIP1_uc003joa.2_Missense_Mutation_p.M34K|PAIP1_uc010ivp.2_Missense_Mutation_p.M34K|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.M1K NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 113 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) GGGCTTAGCCATTGCTGACTC 0.473 NaN 0 0 0 0.01441 0 62 60 ATXN1 6310 broad.mit.edu 37 6 16327275 16327275 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:16327275G>A uc003nbt.2 - 8 2238 c.1267C>T c.(1267-1269)CAC>TAC p.H423Y ATXN1_uc010jpi.2_Missense_Mutation_p.H423Y|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 423 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TAGGACCGGTGGCCAGGCTTC 0.622 NaN 0 0 0 0.01441 0 75 80 TCTE1 202500 broad.mit.edu 37 6 44255546 44255546 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:44255546G>A uc003oxi.2 - 2 173 c.17C>T c.(16-18)ACG>ATG p.T6M SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 6 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGATGTCGTTACGGTATC 0.557 NaN 0 0 0 0.004482 0 6 24 C6orf174 387104 broad.mit.edu 37 6 127796588 127796588 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:127796588G>A uc003qbd.2 - 6 3448 c.2583C>T c.(2581-2583)GAC>GAT p.D861D C6orf174_uc003qbc.2_Translation_Start_Site NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 861 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TGCGGCTGCCGTCGTCCTCCT 0.642 NaN 0 0 0 0.024334 0 25 47 GRM1 2911 broad.mit.edu 37 6 146720574 146720574 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:146720574C>A uc010khw.1 + 8 2869 c.2399C>A c.(2398-2400)GCT>GAT p.A800D GRM1_uc010khv.1_Missense_Mutation_p.A800D|GRM1_uc003qll.2_Missense_Mutation_p.A800D|GRM1_uc011edz.1_Missense_Mutation_p.A800D|GRM1_uc011eea.1_Missense_Mutation_p.A800D NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 800 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATCTGGCTAGCTTTTGTGCCC 0.493 NaN 1 0 2.47511e-08 0.008361 2.67716e-08 26 69 STXBP5 134957 broad.mit.edu 37 6 147527160 147527160 + Silent SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:147527160A>G uc003qlz.2 + 2 365 c.204A>G c.(202-204)GTA>GTG p.V68V uc003qlt.1_5'Flank|uc003qlu.1_5'Flank|STXBP5_uc010khz.1_Silent_p.V68V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 68 WD 1. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTGATCCTGTACAGAAGATCC 0.463 NaN 0 0 0 0.007835 0 35 25 SYNE1 23345 broad.mit.edu 37 6 152675920 152675920 + Silent SNP C C T rs114858512 byFrequency TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:152675920C>T uc010kiw.2 - 67 11402 c.10800G>A c.(10798-10800)TTG>TTA p.L3600L SYNE1_uc003qot.3_Silent_p.L3607L|SYNE1_uc003qou.3_Silent_p.L3600L|SYNE1_uc010kja.1_Silent_p.L305L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3600 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) CCATTAGCCTCAATTTGTTCA 0.502 NaN HNSCC(10;0.0054) 0 0 0 0.00499 0 17 60 GPR31 2853 broad.mit.edu 37 6 167570440 167570440 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:167570440G>A uc011egq.1 - 1 880 c.880C>T c.(880-882)CGG>TGG p.R294W NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 294 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AAGACCCTCCGATAGGAGCTC 0.597 NaN 0 0 0 0.004672 0 3 33 ZNF716 441234 broad.mit.edu 37 7 57522240 57522240 + Missense_Mutation SNP G G T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:57522240G>T uc011kdi.1 + 2 226 c.114G>T c.(112-114)CAG>CAT p.Q38H NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 ATGCTCAGCAGAATTTATATA 0.373 NaN 1 0 0.000274275 0.004482 0.000293668 5 57 SPDYE3 441272 broad.mit.edu 37 7 99917269 99917269 + Silent SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:99917269T>C uc003uug.1 + 4 537 c.297T>C c.(295-297)TCT>TCC p.S99S uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 476 0 AGACCCACTCTCACATACCCT 0.532 NaN 0 0 0 0.01892 0 24 57 ASB15 142685 broad.mit.edu 37 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:123269135G>A uc003vku.1 + 10 1379 c.1087G>A c.(1087-1089)GTT>ATT p.V363I ASB15_uc003vkw.1_Missense_Mutation_p.V363I NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 363 ANK 7. intracellular signal transduction skin(2)|lung(1) 3 TAATAATGACGTTCATTGCAC 0.438 NaN 0 0 0 0.021022 0 35 41 ZNF212 7988 broad.mit.edu 37 7 148950982 148950982 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:148950982G>C uc003wfp.2 + 5 1060 c.964G>C c.(964-966)GAG>CAG p.E322Q NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 322 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TTCTGAGTGTGAGATCACCTT 0.567 NaN 0 0 0 0.009096 0 4 43 MLL3 58508 broad.mit.edu 37 7 151962241 151962241 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:151962241G>C uc003wla.2 - 8 1285 c.1066C>G c.(1066-1068)CAG>GAG p.Q356E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 356 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CAAAAGAACTGATCTAAGAGG 0.413 NaN N medulloblastoma 0 0 0 0.028581 0 12 271 TEX15 56154 broad.mit.edu 37 8 30704505 30704505 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr8:30704505C>T uc003xil.2 - 1 2029 c.2029G>A c.(2029-2031)GAA>AAA p.E677K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 677 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTTCAATTTCACTTTCCAAT 0.289 NaN 0 0 0 0.00308 0 6 19 CYP11B2 1585 broad.mit.edu 37 8 143994845 143994845 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr8:143994845G>A uc003yxk.1 - 6 980 c.977C>T c.(976-978)ACG>ATG p.T326M NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 326 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTCAAAGAGCGTCATCAGCAA 0.627 NaN Familial_Hyperaldosteronism_type_I 0 0 0 0.01441 0 43 69 RFX3 5991 broad.mit.edu 37 9 3277363 3277363 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:3277363C>T uc003zhr.2 - 9 1262 c.950G>A c.(949-951)AGC>AAC p.S317N RFX3_uc010mhd.2_Missense_Mutation_p.S317N|RFX3_uc003zhs.1_Missense_Mutation_p.S317N|RFX3_uc003zht.1_Missense_Mutation_p.S317N|RFX3_uc010mhe.1_Missense_Mutation_p.S292N NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 317 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ATGATGTTGGCTTTGGGCAAT 0.403 NaN 0 0 0 0.013726 0 32 67 CEP110 11064 broad.mit.edu 37 9 123921142 123921142 + Nonsense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:123921142C>T uc004bkx.1 + 29 4805 c.4774C>T c.(4774-4776)CAG>TAG p.Q1592* CEP110_uc010mvo.1_Nonsense_Mutation_p.Q261*|CEP110_uc004blb.1_Nonsense_Mutation_p.Q261*|CEP110_uc010mvp.1_Intron NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1592 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GGTGACAAGTCAGCAGCAGGA 0.463 NaN 0 0 0 0.01441 0 70 13 ARPC5L 81873 broad.mit.edu 37 9 127637310 127637310 + Silent SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:127637310T>C uc004bpa.3 + 3 365 c.279T>C c.(277-279)ATT>ATC p.I93I ARPC5L_uc011lzq.1_Silent_p.I41I NM_030978 NP_112240 Q9BPX5 ARP5L_HUMAN actin related protein 2/3 complex, subunit 93 regulation of actin filament polymerization cytoplasm|cytoskeleton actin binding 0 GCAGTGAGATTGAGCAGGCTG 0.502 NaN 0 0 0 0.00308 0 5 90 TTC16 158248 broad.mit.edu 37 9 130485503 130485503 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:130485503C>T uc004brq.1 + 7 830 c.763C>T c.(763-765)CGC>TGC p.R255C PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.R242C|TTC16_uc004brr.1_Missense_Mutation_p.R200C|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 255 TPR 4. binding 0 CCAGCAGGCGCGCCAAGATGC 0.642 NaN 0 0 0 0.013114 0 45 6 LRRC8A 56262 broad.mit.edu 37 9 131669702 131669702 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131669702C>T uc004bwl.3 + 3 513 c.259C>T c.(259-261)CTG>TTG p.L87L LRRC8A_uc010myp.2_Silent_p.L87L|LRRC8A_uc010myq.2_Silent_p.L87L NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 87 pre-B cell differentiation integral to membrane 0 CTCCACCATTCTGCCGACCCC 0.617 NaN 0 0 0 0.01441 0 59 10 LRRC8A 56262 broad.mit.edu 37 9 131670421 131670421 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131670421C>T uc004bwl.3 + 3 1232 c.978C>T c.(976-978)ATC>ATT p.I326I LRRC8A_uc010myp.2_Silent_p.I326I|LRRC8A_uc010myq.2_Silent_p.I326I NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 326 Helical; (Potential). pre-B cell differentiation integral to membrane 0 CCTTCTACATCAGCCTAGTCA 0.567 NaN 0 0 0 0.01441 0 71 11 LRRC8A 56262 broad.mit.edu 37 9 131671081 131671081 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131671081C>G uc004bwl.3 + 3 1892 c.1638C>G c.(1636-1638)CTC>CTG p.L546L LRRC8A_uc010myp.2_Silent_p.L546L|LRRC8A_uc010myq.2_Silent_p.L546L NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 546 LRR 8. pre-B cell differentiation integral to membrane 0 TCAAACGCCTCAAGGTGCTGC 0.592 NaN 0 0 0 0.007291 0 28 4 USP20 10868 broad.mit.edu 37 9 132620365 132620365 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:132620365G>A uc004bys.2 + 5 383 c.172G>A c.(172-174)GCT>ACT p.A58T USP20_uc004byr.2_Missense_Mutation_p.A58T|USP20_uc004byt.1_Missense_Mutation_p.A58T NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 58 UBP-type. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) AGAATCCTTTGCTGACCACAG 0.368 NaN 0 0 0 0.010771 0 37 51 CXCR3 2833 broad.mit.edu 37 X 70836460 70836460 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:70836460G>A uc004eaf.2 - 2 930 c.862C>T c.(862-864)CGC>TGC p.R288C BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.R335C NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 288 Extracellular (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) CCACAGTTGCGGGCCAAAGCG 0.632 NaN 0 0 0 0.006122 0 16 16 STAG2 10735 broad.mit.edu 37 X 123217380 123217380 + Nonsense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:123217380C>T uc004etz.3 + 28 3373 c.3034C>T c.(3034-3036)CGA>TGA p.R1012* STAG2_uc004eua.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1012*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1012* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1012 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TAAACTACTTCGACAAGACAA 0.343 NaN 0 0 0 0.01441 0 34 0 GPC3 2719 broad.mit.edu 37 X 132670204 132670204 + Missense_Mutation SNP A A C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:132670204A>C uc004exe.1 - 8 1881 c.1691T>G c.(1690-1692)CTT>CGT p.L564R GPC3_uc004exd.1_Missense_Mutation_p.L436R|GPC3_uc010nrn.1_Missense_Mutation_p.L587R|GPC3_uc011mvh.1_Missense_Mutation_p.L548R|GPC3_uc010nro.1_Missense_Mutation_p.L510R NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 564 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCTGGTGAGAAGCTTCAGCGG 0.562 NaN T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 0 0 0 0.01441 0 57 3 TBL1Y 90665 broad.mit.edu 37 Y 6911149 6911149 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrY:6911149G>C uc004frb.2 + 7 834 c.187G>C c.(187-189)GAG>CAG p.E63Q TBL1Y_uc004frc.2_Missense_Mutation_p.E63Q|TBL1Y_uc004frd.2_Missense_Mutation_p.E63Q|TBL1Y_uc011nap.1_5'UTR NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 63 F-box-like. transcription, DNA-dependent 0 TGTAGAGGCTGAGATAAGCAT 0.527 NaN 0 0 0 0.010729 0 10 62 SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:160589601delT uc001fwl.3 - 5 1175 c.829delA c.(829-831)AGCfs p.S277fs SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 277 Cytoplasmic (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 NaN NaN NaN NaN NaN NaN 8 178 --- --- SPAG6 9576 broad.mit.edu 37 10 22690092 22690093 + Frame_Shift_Ins INS - - A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:22690092_22690093insA uc001iri.2 + 9 1342_1343 c.1200_1201insA c.(1198-1203)AGTAAAfs p.S400fs SPAG6_uc001irj.2_Frame_Shift_Ins_p.S400fs|SPAG6_uc010qct.1_Frame_Shift_Ins_p.S370fs|SPAG6_uc009xkh.2_Frame_Shift_Ins_p.S378fs NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 400_401 ARM 8. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 ATTTCTAGAGTAAAAAAGCCAT 0.327 NaN NaN NaN NaN NaN NaN 16 49 --- --- FBXW4 6468 broad.mit.edu 37 10 103454358 103454360 + In_Frame_Del DEL CCT CCT - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:103454358_103454360delCCT uc001kto.2 - 1 384_386 c.38_40delAGG c.(37-42)GAGGCG>GCG p.E13del NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 13 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) TCCCGAGCCGcctcctcctcctc 0.675 NaN NaN NaN NaN NaN NaN 2 4 --- --- MARK2 2011 broad.mit.edu 37 11 63668273 63668276 + Frame_Shift_Del DEL ATGA ATGA - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:63668273_63668276delATGA uc001nxw.2 + 10 1489_1492 c.910_913delATGA c.(910-915)ATGAATfs p.M304fs MARK2_uc001nxx.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxy.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxv.3_Frame_Shift_Del_p.M304fs|MARK2_uc001nxz.3_Frame_Shift_Del_p.M271fs|MARK2_uc009yoy.2_Frame_Shift_Del_p.M271fs NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 304_305 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 AGATCGATGGATGAATGTGGGTCA 0.564 NaN NaN NaN NaN NaN NaN 95 144 --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr13:108518687_108518689delCTG uc001vql.2 - 1 772_774 c.256_258delCAG c.(256-258)CAGdel p.Q86del NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding skin(1) 1 gccgctgcctctgctgctgctgc 0.404 NaN NaN NaN NaN NaN NaN 7 31 --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:129268107_129268108insA uc003emu.2 + 3 647_648 c.642_643insA c.(640-645)GCTAGGfs p.A214fs H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 214_215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 CGGGAGAGGCTAGGAAGGTGCC 0.653 NaN NaN NaN NaN NaN NaN 3 6 --- --- PILRB 29990 broad.mit.edu 37 7 99956513 99956514 + Frame_Shift_Ins INS - - T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:99956513_99956514insT uc003uuk.2 + 16 2761_2762 c.265_266insT c.(265-267)ATTfs p.I89fs PILRB_uc003uul.2_Intron|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Frame_Shift_Ins_p.I89fs NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 89 Extracellular (Potential).|Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCGCCTTCCATTCACAAGGAT 0.55 NaN NaN NaN NaN NaN NaN 53 105 --- ---