Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter TCEB3 6924 broad.mit.edu 37 1 24083610 24083610 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:24083610T>C uc001bho.2 + 10 2390 c.2330T>C c.(2329-2331)GTG>GCG p.V777A NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 777 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AAACCCACTGTGAAGAGTAAG 0.458 36 7 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34049275 34049275 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:34049275C>A uc001bxn.1 - 48 7242 c.7213G>T c.(7213-7215)GAG>TAG p.E2405* CSMD2_uc001bxm.1_Nonsense_Mutation_p.E2403* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2405 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TATTGCTTCTCGCTGAGGAAG 0.413 4 81 --- --- --- --- PASS CAP1 10487 broad.mit.edu 37 1 40530017 40530017 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:40530017T>C uc001cfa.3 + 5 642 c.413T>C c.(412-414)ATC>ACC p.I138T CAP1_uc001cey.3_Missense_Mutation_p.I138T|CAP1_uc001cez.3_Missense_Mutation_p.I138T|CAP1_uc009vvz.2_Missense_Mutation_p.I138T|CAP1_uc010oje.1_Missense_Mutation_p.I55T NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 138 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCGAAAGTATCCAGGCCCTG 0.517 36 11 --- --- --- --- PASS EIF2B3 8891 broad.mit.edu 37 1 45444122 45444122 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:45444122C>A uc001cmt.1 - 3 286 c.159G>T c.(157-159)GTG>GTT p.V53V EIF2B3_uc001cmu.1_Silent_p.V53V|EIF2B3_uc001cmv.1_Silent_p.V53V|EIF2B3_uc001cmw.2_Silent_p.V53V NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 53 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGTTGTAACCACAATGACTT 0.348 5 117 --- --- --- --- PASS GPBP1L1 60313 broad.mit.edu 37 1 46099321 46099321 + Splice_Site SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:46099321T>A uc001coq.2 - 10 2247 c.886_splice c.e10-1 p.S296_splice GPBP1L1_uc001coo.2_Splice_Site_p.S40_splice NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GGAGGGACTCTGGGCAAATAC 0.502 16 3 --- --- --- --- PASS PRKAA2 5563 broad.mit.edu 37 1 57140174 57140174 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:57140174G>A uc001cyk.3 + 2 286 c.215G>A c.(214-216)CGT>CAT p.R72H NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 72 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 AAACTCTTTCGTCATCCTCAT 0.269 18 38 --- --- --- --- PASS FGGY 55277 broad.mit.edu 37 1 60139733 60139733 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:60139733A>T uc001czi.3 + 14 1652 c.1440A>T c.(1438-1440)CAA>CAT p.Q480H FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.Q504H|FGGY_uc001czj.3_Missense_Mutation_p.Q479H|FGGY_uc001czk.3_Missense_Mutation_p.Q368H|FGGY_uc001czl.3_Missense_Mutation_p.Q392H|FGGY_uc001czm.3_Missense_Mutation_p.Q181H NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 480 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TCCTGTCGCAAGAGGTGGAGT 0.612 4 10 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 63100504 63100504 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:63100504C>A uc001daq.2 - 9 1009 c.975G>T c.(973-975)CTG>CTT p.L325L DOCK7_uc001dan.2_Silent_p.L217L|DOCK7_uc001dao.2_Silent_p.L217L|DOCK7_uc001dap.2_Silent_p.L325L|DOCK7_uc009wah.1_Silent_p.L325L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 325 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CTGATCTTGCCAGGGTAGTAA 0.299 5 99 --- --- --- --- PASS KCNA10 3744 broad.mit.edu 37 1 111060834 111060834 + Silent SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:111060834C>T uc001dzt.1 - 1 964 c.576G>A c.(574-576)CTG>CTA p.L192L NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 192 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGGTGGGTAGCAGTGTTTCAG 0.527 18 7 --- --- --- --- PASS NBPF15 284565 broad.mit.edu 37 1 148594604 148594604 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:148594604C>G uc001esc.2 + 19 2466 c.1977C>G c.(1975-1977)CAC>CAG p.H659Q NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 659 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) CAAGTCTCCACCTGGTGTTCC 0.453 4 81 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152286268 152286268 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:152286268G>T uc001ezu.1 - 3 1130 c.1094C>A c.(1093-1095)TCT>TAT p.S365Y uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 365 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCACGAGAGGAAGTCTC 0.562 Ichthyosis 7 270 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156913790 156913790 + Missense_Mutation SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:156913790T>A uc001fqo.2 - 31 4092 c.3052A>T c.(3052-3054)AGC>TGC p.S1018C ARHGEF11_uc010phu.1_Missense_Mutation_p.S434C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S1058C NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1018 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTCTGCTTGCTGTCTGAGGAG 0.592 23 27 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687691 158687691 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:158687691C>A uc010pip.1 - 1 263 c.263G>T c.(262-264)TGG>TTG p.W88L NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 88 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TGTGGTGTACCAGATCTCCAG 0.423 59 71 --- --- --- --- PASS OR10J5 127385 broad.mit.edu 37 1 159505361 159505361 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:159505361C>G uc010piw.1 - 1 437 c.437G>C c.(436-438)TGT>TCT p.C146S NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) AAAGGACCCACACACCAGCTG 0.512 23 33 --- --- --- --- PASS KCNJ9 3765 broad.mit.edu 37 1 160057308 160057308 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:160057308G>T uc001fuy.1 + 3 1125 c.883G>T c.(883-885)GTA>TTA p.V295L NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 295 Cytoplasmic (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCCTACCTGGTAGACGAGGT 0.582 4 44 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186106962 186106962 + Silent SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:186106962T>C uc001grq.1 + 89 14011 c.13782T>C c.(13780-13782)CTT>CTC p.L4594L HMCN1_uc001grs.1_Silent_p.L163L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4594 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AATGGAGTCTTTGGGAAGAAT 0.488 34 42 --- --- --- --- PASS RASSF5 83593 broad.mit.edu 37 1 206711563 206711563 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:206711563G>C uc001hed.2 + 2 577 c.520G>C c.(520-522)GAG>CAG p.E174Q RASSF5_uc001hec.1_Missense_Mutation_p.E174Q|RASSF5_uc001hee.2_Missense_Mutation_p.E174Q NM_182663 NP_872604 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family 5 174 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding ovary(1) 1 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAGTCAGCAGGAGGGTTTATC 0.547 13 60 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248085236 248085236 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:248085236G>T uc010pzc.1 + 1 917 c.917G>T c.(916-918)TGT>TTT p.C306F NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGGGTCGGTGTGTGGCCTTA 0.423 26 60 --- --- --- --- PASS FAM84A 151354 broad.mit.edu 37 2 14774177 14774177 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:14774177A>T uc002rbz.1 + 2 316 c.74A>T c.(73-75)GAA>GTA p.E25V FAM84A_uc002rca.1_5'Flank NM_145175 NP_660158 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 25 pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) TCGGGGATTGAAAAGGACGAA 0.622 7 24 --- --- --- --- PASS RAD51AP2 729475 broad.mit.edu 37 2 17697653 17697653 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:17697653G>T uc002rcl.1 - 1 2054 c.2030C>A c.(2029-2031)ACA>AAA p.T677K RAD51AP2_uc010exn.1_Missense_Mutation_p.T668K NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 677 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CGGAAAACCTGTATTTTGAGT 0.274 5 36 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21236080 21236080 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:21236080G>T uc002red.2 - 25 4296 c.4168C>A c.(4168-4170)CAC>AAC p.H1390N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1390 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCTTCATGTGGTAACGAGCC 0.532 6 167 --- --- --- --- PASS UBXN2A 165324 broad.mit.edu 37 2 24199905 24199905 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:24199905G>A uc010exy.2 + 5 715 c.247G>A c.(247-249)GAT>AAT p.D83N UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D83N|UBXN2A_uc010ykj.1_Missense_Mutation_p.D83N NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 83 SEP. 0 AAGTTATTCCGATGGTGCCAG 0.284 6 74 --- --- --- --- PASS PNPT1 87178 broad.mit.edu 37 2 55895077 55895077 + Silent SNP G C C rs147013543 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:55895077G>C uc002rzf.2 - 12 1046 c.993C>G c.(991-993)GCC>GCG p.A331A PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 331 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CATATGGATCGGCTTCTGGAA 0.279 8 23 --- --- --- --- PASS WDR54 84058 broad.mit.edu 37 2 74652764 74652764 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:74652764C>A uc002slb.2 + 10 1001 c.941C>A c.(940-942)TCA>TAA p.S314* NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 314 0 TGTGATTCCTCAGGCAACTCC 0.557 6 175 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102632492 102632492 + Silent SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:102632492C>T uc002tbm.2 + 4 721 c.492C>T c.(490-492)GAC>GAT p.D164D IL1R2_uc002tbn.2_Silent_p.D164D|IL1R2_uc002tbo.1_Silent_p.D164D NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 164 Extracellular (Potential).|Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) ACAAAACTGACGTGAAGATTC 0.378 7 24 --- --- --- --- PASS GPR39 2863 broad.mit.edu 37 2 133402844 133402844 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:133402844C>A uc002ttl.2 + 2 1496 c.1027C>A c.(1027-1029)CTG>ATG p.L343M LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 343 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 CAACCCGCTCCTGTACACGGT 0.622 5 54 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160294950 160294950 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:160294950G>T uc002uao.2 - 8 1509 c.1157C>A c.(1156-1158)CCT>CAT p.P386H BAZ2B_uc002uap.2_Missense_Mutation_p.P384H|BAZ2B_uc002uas.1_Missense_Mutation_p.P323H|BAZ2B_uc002uau.1_Missense_Mutation_p.P384H|BAZ2B_uc002uaq.1_Missense_Mutation_p.P314H|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.P384H NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CAAAGATAAAGGTTTCACATT 0.383 6 53 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166532891 166532891 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:166532891G>A uc002udf.2 + 6 854 c.478G>A c.(478-480)GAC>AAC p.D160N CSRNP3_uc002udg.2_Missense_Mutation_p.D160N NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 160 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TTCTGATGATGACATTGACCT 0.423 46 212 --- --- --- --- PASS CHN1 1123 broad.mit.edu 37 2 175664914 175664914 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:175664914G>A uc002uji.2 - 13 1840 c.1310C>T c.(1309-1311)GCA>GTA p.A437V CHN1_uc010zeq.1_Missense_Mutation_p.A411V|CHN1_uc002ujj.2_Missense_Mutation_p.A212V|CHN1_uc002ujg.2_Missense_Mutation_p.A312V NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 437 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) ATCATTCAATGCAGCCATGGC 0.403 T TAF15 extraskeletal myxoid chondrosarcoma 8 43 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187709452 187709452 + Missense_Mutation SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:187709452T>A uc002upu.1 - 3 315 c.275A>T c.(274-276)AAC>ATC p.N92I NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 92 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ACATTCATGGTTCCTTGGAAG 0.254 25 28 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197087045 197087045 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:197087045G>T uc002utm.1 - 24 4219 c.4036C>A c.(4036-4038)CTA>ATA p.L1346I HECW2_uc002utl.1_Missense_Mutation_p.L990I NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1346 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 AGGTATTCTAGGTCACTCAGG 0.408 5 68 --- --- --- --- PASS NBEAL1 65065 broad.mit.edu 37 2 204032030 204032030 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:204032030C>T uc002uzt.3 + 37 6190 c.5857C>T c.(5857-5859)CTT>TTT p.L1953F NBEAL1_uc002uzs.3_Missense_Mutation_p.L663F NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1953 binding ovary(1)|skin(1) 2 AAGATCAGCCCTTGAGATTTT 0.363 16 51 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216247035 216247035 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:216247035C>T uc002vfa.2 - 32 5330 c.5064G>A c.(5062-5064)ATG>ATA p.M1688I FN1_uc002vfb.2_Missense_Mutation_p.M1597I|FN1_uc002vfc.2_Missense_Mutation_p.M1597I|FN1_uc002vfd.2_Missense_Mutation_p.M1688I|FN1_uc002vfe.2_Missense_Mutation_p.M1597I|FN1_uc002vff.2_Missense_Mutation_p.M1597I|FN1_uc002vfg.2_Missense_Mutation_p.M1597I|FN1_uc002vfh.2_Missense_Mutation_p.M1597I|FN1_uc002vfi.2_Missense_Mutation_p.M1688I|FN1_uc002vfj.2_Missense_Mutation_p.M1688I|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.M315I|FN1_uc010fvc.1_Missense_Mutation_p.M50I|FN1_uc010fvd.1_Missense_Mutation_p.M50I NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTCAATAGTCATTTCTGTTT 0.453 6 35 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234347023 234347023 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:234347023C>A uc002vui.1 + 9 1095 c.1083C>A c.(1081-1083)CTC>CTA p.L361L DGKD_uc002vuj.1_Silent_p.L317L|DGKD_uc010fyh.1_Silent_p.L228L|DGKD_uc010fyi.1_RNA|DGKD_uc002vuk.1_Silent_p.L228L NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 361 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCCCACACCTCGGGTAGGAAG 0.413 4 98 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4817034 4817034 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:4817034G>T uc003bqa.2 + 44 6292 c.5944G>T c.(5944-5946)GGC>TGC p.G1982C ITPR1_uc010hca.1_Missense_Mutation_p.G1967C|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.G952C NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 2030 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.L1982L(1) lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGGTCTTCTGGGCTTGTATAT 0.433 6 81 --- --- --- --- PASS PRSS45 377047 broad.mit.edu 37 3 46785594 46785594 + Silent SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:46785594C>T uc010hjl.2 - 2 150 c.150G>A c.(148-150)AAG>AAA p.K50K PRSS45_uc011bam.1_RNA NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN testis serine protease 5 50 Peptidase S1. proteolysis serine-type endopeptidase activity 0 TGGGCTGCAGCTTGGAGGTGC 0.577 4 4 --- --- --- --- PASS MIR548I1 100302204 broad.mit.edu 37 3 125509278 125509278 + RNA SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:125509278G>T hsa-mir-548i-1|MI0006421 - c.118G>T 0 TTTGGTAGAAGGAGAAAAGAT 0.259 6 77 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130282213 130282213 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:130282213C>A uc010htl.2 + 2 397 c.366C>A c.(364-366)CCC>CCA p.P122P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 122 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCTCTGCACCCGCAAATGGGA 0.507 8 12 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134851709 134851709 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:134851709G>T uc003eqt.2 + 5 1335 c.1115G>T c.(1114-1116)CGC>CTC p.R372L EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 372 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AGCTGCTCCCGCTGTGACGAC 0.617 19 13 --- --- --- --- PASS EIF2A 83939 broad.mit.edu 37 3 150301010 150301010 + Silent SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:150301010G>A uc003eya.2 + 13 1666 c.1650G>A c.(1648-1650)CTG>CTA p.L550L SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.L423L|EIF2A_uc003eyc.2_Silent_p.L423L|EIF2A_uc011bnv.1_Silent_p.L525L|EIF2A_uc011bnw.1_Silent_p.L489L|EIF2A_uc003eyd.2_Silent_p.L325L|uc003eye.1_Intron NM_032025 NP_114414 Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A 550 Potential. regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding 0 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCGAACAACTGAAAGAACAAG 0.368 22 190 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164739162 164739162 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:164739162G>A uc003fei.2 - 27 3171 c.3109C>T c.(3109-3111)CCC>TCC p.P1037S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1037 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCTTTTGGGGATCATAAATC 0.328 HNSCC(35;0.089) 9 273 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164792369 164792369 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:164792369C>A uc003fei.2 - 3 267 c.205G>T c.(205-207)GAT>TAT p.D69Y NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 69 Lumenal.|P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGACAGGATCATTTAACACA 0.333 HNSCC(35;0.089) 17 72 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165504037 165504037 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:165504037T>C uc003fem.3 - 3 1740 c.1580A>G c.(1579-1581)AAA>AGA p.K527R BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 527 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GGTTAGATATTTTTGTTCAGT 0.333 23 51 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183818359 183818359 + Missense_Mutation SNP A C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:183818359A>C uc010hxq.2 + 2 620 c.154A>C c.(154-156)AAG>CAG p.K52Q HTR3E_uc003fml.3_Missense_Mutation_p.K52Q|HTR3E_uc003fmm.2_Missense_Mutation_p.K67Q|HTR3E_uc010hxr.2_Missense_Mutation_p.K67Q|HTR3E_uc003fmn.2_Missense_Mutation_p.K67Q NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 52 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GTTTAATAGAAAGCCCTTCCG 0.537 37 305 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184045465 184045465 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:184045465G>T uc003fnp.2 + 25 3951 c.3753G>T c.(3751-3753)GAG>GAT p.E1251D EIF4G1_uc003fnt.2_Missense_Mutation_p.E962D|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1164D|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1087D|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fns.2_Missense_Mutation_p.E1211D|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1252D|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1251D|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1056D|EIF4G1_uc003fny.3_Missense_Mutation_p.E1055D|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1251 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTATCATTGAGGAATATCTCC 0.562 7 176 --- --- --- --- PASS MAGEF1 64110 broad.mit.edu 37 3 184429384 184429384 + Silent SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:184429384G>A uc003fpa.2 - 1 453 c.226C>T c.(226-228)CTG>TTG p.L76L NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 76 MAGE. ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) GTCCGATTCAGCCGGCGGTAG 0.642 24 129 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184675210 184675210 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:184675210C>A uc003fpb.1 + 36 3249 c.3078C>A c.(3076-3078)ATC>ATA p.I1026I VPS8_uc010hyd.1_Silent_p.I936I|VPS8_uc010hye.1_Silent_p.I455I NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1028 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CTCCTTGTATCACAGAGCAGT 0.373 8 65 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194366966 194366966 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:194366966C>A uc003fui.2 - 12 1865 c.1550G>T c.(1549-1551)CGA>CTA p.R517L NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 517 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CATGAATCCTCGCATGTCTGT 0.448 5 197 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195484025 195484025 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:195484025G>T uc011bto.1 - 19 15237 c.14777C>A c.(14776-14778)TCC>TAC p.S4926Y MUC4_uc003fuz.2_Missense_Mutation_p.S652Y|MUC4_uc003fva.2_Missense_Mutation_p.S534Y|MUC4_uc003fvb.2_Missense_Mutation_p.S570Y|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S570Y|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S534Y|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S618Y|MUC4_uc011bti.1_Missense_Mutation_p.S618Y|MUC4_uc011btj.1_Missense_Mutation_p.S795Y|MUC4_uc011btk.1_Missense_Mutation_p.S534Y|MUC4_uc011btl.1_Missense_Mutation_p.S563Y|MUC4_uc011btm.1_Missense_Mutation_p.S743Y|MUC4_uc011btn.1_Missense_Mutation_p.S534Y|MUC4_uc003fvo.2_Missense_Mutation_p.S818Y|MUC4_uc003fvp.2_Missense_Mutation_p.S767Y NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1811 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACCTCCAGGGAGGAGTTGCC 0.572 7 184 --- --- --- --- PASS UBXN7 26043 broad.mit.edu 37 3 196083658 196083658 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:196083658G>T uc003fwm.3 - 11 1443 c.1368C>A c.(1366-1368)ACC>ACA p.T456T UBXN7_uc003fwn.3_Silent_p.T308T|UBXN7_uc010iae.2_Silent_p.T294T NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 456 UBX. protein binding ovary(2)|pancreas(1) 3 GAGGAAAGTTGGTGAGAAGTT 0.393 6 130 --- --- --- --- PASS FAM193A 8603 broad.mit.edu 37 4 2696737 2696737 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:2696737G>A uc010icl.2 + 15 2635 c.2284G>A c.(2284-2286)GAC>AAC p.D762N FAM193A_uc010ick.2_Missense_Mutation_p.D962N|FAM193A_uc003gfd.2_Missense_Mutation_p.D762N|FAM193A_uc011bvm.1_Missense_Mutation_p.D784N|FAM193A_uc011bvn.1_Missense_Mutation_p.D762N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D616N NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 762 ovary(3) 3 GGATGATGGGGACGAGAGTGC 0.587 4 7 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5578179 5578179 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:5578179C>G uc003gij.2 - 18 3114 c.3060G>C c.(3058-3060)GAG>GAC p.E1020D EVC2_uc011bwb.1_Missense_Mutation_p.E460D|EVC2_uc003gik.2_Missense_Mutation_p.E940D NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1020 Potential. integral to membrane large_intestine(3)|ovary(2) 5 ACTCCTGGAGCTCCTACACAA 0.627 4 2 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42145969 42145969 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:42145969C>G uc003gwn.2 - 3 1110 c.530G>C c.(529-531)CGA>CCA p.R177P BEND4_uc003gwm.2_Missense_Mutation_p.R177P|BEND4_uc011byy.1_Missense_Mutation_p.R177P NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 177 0 GCTAAGAACTCGACTGCACTG 0.438 18 6 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48566052 48566052 + Missense_Mutation SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:48566052A>G uc003gyh.1 - 31 4114 c.3509T>C c.(3508-3510)ATG>ACG p.M1170T FRYL_uc003gyk.2_Missense_Mutation_p.M1170T|FRYL_uc003gyi.1_Missense_Mutation_p.M59T NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1170 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGCCCAGTACATCAGGTTGCT 0.527 9 63 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76805858 76805858 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:76805858C>A uc003hix.2 - 8 992 c.635G>T c.(634-636)CGA>CTA p.R212L PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R212L NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 212 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATCCTTGCCTCGATCCACAAA 0.458 5 176 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114251433 114251433 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:114251433G>A uc003ibe.3 + 27 3032 c.2932G>A c.(2932-2934)GGT>AGT p.G978S ANK2_uc003ibd.3_Missense_Mutation_p.G969S|ANK2_uc003ibf.3_Missense_Mutation_p.G978S|ANK2_uc011cgc.1_Missense_Mutation_p.G187S|ANK2_uc003ibg.3_Missense_Mutation_p.G6S|ANK2_uc003ibc.2_Missense_Mutation_p.G954S|ANK2_uc011cgb.1_Missense_Mutation_p.G993S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 978 ZU5.|Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGATGCCCGAGGTGGTGCTAT 0.448 9 9 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160274672 160274672 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:160274672A>T uc003iqg.3 + 22 3952 c.3642A>T c.(3640-3642)TTA>TTT p.L1214F NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1214 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GCCGAGGCTTATATGCTACAG 0.443 24 26 --- --- --- --- PASS KLHL2 11275 broad.mit.edu 37 4 166215563 166215563 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:166215563C>G uc003irb.2 + 6 856 c.597C>G c.(595-597)ATC>ATG p.I199M KLHL2_uc011cjm.1_Missense_Mutation_p.I203M|KLHL2_uc003irc.2_Missense_Mutation_p.I111M|KLHL2_uc010ira.2_Translation_Start_Site NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 199 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) ATCTTGGCATCGAACAAGTGT 0.353 4 15 --- --- --- --- PASS GLRA3 8001 broad.mit.edu 37 4 175598344 175598344 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:175598344G>T uc003ity.1 - 7 1315 c.812C>A c.(811-813)TCC>TAC p.S271Y GLRA3_uc003itz.1_Missense_Mutation_p.S271Y NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 271 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TGAAACCCAGGATAGAATAAC 0.468 4 19 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177136878 177136878 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:177136878G>C uc003iuq.1 - 7 879 c.863C>G c.(862-864)GCT>GGT p.A288G ASB5_uc003iup.1_Missense_Mutation_p.A235G NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 288 SOCS box. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCTTGGGGTAGCTACAAGAAG 0.353 8 19 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187630181 187630181 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr4:187630181C>A uc003izf.2 - 2 989 c.801G>T c.(799-801)CTG>CTT p.L267L FAT1_uc010iso.1_Silent_p.L267L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 267 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGTCCCTGTCCAGTTCTGATG 0.522 HNSCC(5;0.00058) 7 262 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463104 5463104 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:5463104C>A uc003jdm.3 + 13 3879 c.3657C>A c.(3655-3657)TAC>TAA p.Y1219* NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1219 ovary(1)|central_nervous_system(1) 2 GAGAAAAATACAGAAAGCAAC 0.363 4 51 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35065919 35065919 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:35065919C>T uc003jjm.2 - 10 1671 c.1141G>A c.(1141-1143)GAG>AAG p.E381K PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E280K NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 381 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCTGGCTTCTCAATGACCTCA 0.517 18 51 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262556 45262556 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:45262556C>A uc003jok.2 - 8 2165 c.2140G>T c.(2140-2142)GCT>TCT p.A714S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 714 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AAAGTTCGAGCGGCCAGAGGG 0.483 6 16 --- --- --- --- PASS SNX18 112574 broad.mit.edu 37 5 53814757 53814757 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:53814757G>C uc003jpj.3 + 1 1165 c.975G>C c.(973-975)GAG>GAC p.E325D SNX18_uc011cqg.1_Missense_Mutation_p.E325D|SNX18_uc003jpi.3_Missense_Mutation_p.E325D NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 325 PX. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) GCCTGGCGGAGAAGTTCCCGG 0.632 6 16 --- --- --- --- PASS SNX18 112574 broad.mit.edu 37 5 53814938 53814938 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:53814938G>T uc003jpj.3 + 1 1346 c.1156G>T c.(1156-1158)GAC>TAC p.D386Y SNX18_uc011cqg.1_Missense_Mutation_p.D386Y|SNX18_uc003jpi.3_Missense_Mutation_p.D386Y NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 386 PX. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) CAGCAGCACCGACGAGAAAGC 0.642 5 12 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112175468 112175468 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:112175468C>A uc010jby.2 + 16 4557 c.4177C>A c.(4177-4179)CTT>ATT p.L1393I APC_uc011cvt.1_Missense_Mutation_p.L1375I|APC_uc003kpz.3_Missense_Mutation_p.L1393I|APC_uc003kpy.3_Missense_Mutation_p.L1393I|APC_uc010jbz.2_Missense_Mutation_p.L1110I|APC_uc010jca.2_Missense_Mutation_p.L693I NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1393 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.D1394fs*1(3)|p.L1393P(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGTCAGTTCACTTGATAGTTT 0.468 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 21 33 --- --- --- --- PASS DDX46 9879 broad.mit.edu 37 5 134143584 134143584 + Nonsense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:134143584G>T uc003kzw.2 + 16 2269 c.2101G>T c.(2101-2103)GAG>TAG p.E701* DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 701 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAACCATTATGAGGATTATGT 0.398 6 38 --- --- --- --- PASS TIFAB 497189 broad.mit.edu 37 5 134785627 134785627 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:134785627C>A uc003law.3 - 2 204 c.3G>T c.(1-3)ATG>ATT p.M1I C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 1 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGGCTTCTCCATGGAAGAAG 0.597 4 38 --- --- --- --- PASS SIL1 64374 broad.mit.edu 37 5 138356904 138356904 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:138356904G>T uc003ldm.2 - 6 740 c.723C>A c.(721-723)CTC>CTA p.L241L SIL1_uc003ldn.2_Silent_p.L240L|SIL1_uc003ldo.2_Silent_p.L241L|SIL1_uc003ldp.2_Silent_p.L241L|SIL1_uc003ldq.1_Silent_p.L34L NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 241 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACTCCTTCACGAGGGGCTCTG 0.537 Marinesco-Sj_gren_syndrome 4 43 --- --- --- --- PASS RBM27 54439 broad.mit.edu 37 5 145649058 145649058 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:145649058G>A uc003lnz.3 + 17 2768 c.2602G>A c.(2602-2604)GAG>AAG p.E868K RBM27_uc003lny.2_Missense_Mutation_p.E813K NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 868 Potential. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACTTTGAAAGAGCTTGGAGA 0.308 17 31 --- --- --- --- PASS PPARGC1B 133522 broad.mit.edu 37 5 149216148 149216148 + Silent SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:149216148G>A uc003lrc.2 + 8 2172 c.2130G>A c.(2128-2130)AGG>AGA p.R710R PPARGC1B_uc003lrb.1_Silent_p.R710R|PPARGC1B_uc003lrd.2_Silent_p.R671R|PPARGC1B_uc003lrf.2_Silent_p.R689R|PPARGC1B_uc003lre.1_Silent_p.R689R NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 710 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGGTGCTGAGGTCCTGGGAGC 0.637 10 19 --- --- --- --- PASS SYNPO 11346 broad.mit.edu 37 5 150028164 150028164 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:150028164G>T uc003lsn.2 + 3 1433 c.1059G>T c.(1057-1059)CTG>CTT p.L353L SYNPO_uc003lso.3_Silent_p.L109L|SYNPO_uc003lsp.2_Silent_p.L109L NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 353 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACAGAGCCTGCCACTTTCTA 0.567 5 102 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161116753 161116753 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:161116753C>G uc003lyu.2 + 6 979 c.641C>G c.(640-642)ACA>AGA p.T214R GABRA6_uc003lyv.2_5'UTR NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 214 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.T214I(1) ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTGGACAAACAGTATCTAGT 0.363 TCGA Ovarian(5;0.080) 17 29 --- --- --- --- PASS TBC1D9B 23061 broad.mit.edu 37 5 179320369 179320369 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr5:179320369G>A uc003mlh.2 - 5 713 c.676C>T c.(676-678)CTC>TTC p.L226F TBC1D9B_uc003mli.2_Missense_Mutation_p.L226F|TBC1D9B_uc003mlj.2_Missense_Mutation_p.L226F NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 226 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGAAGAAGAGCTCCTGGTCG 0.607 11 28 --- --- --- --- PASS HDGFL1 154150 broad.mit.edu 37 6 22569818 22569818 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:22569818G>T uc003nds.2 + 1 141 c.14G>T c.(13-15)GGC>GTC p.G5V NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 5 0 Ovarian(93;0.163) TCGGCCTACGGCATGCCCATG 0.647 17 2 --- --- --- --- PASS GSTA4 2941 broad.mit.edu 37 6 52849319 52849319 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:52849319C>A uc003pbc.2 - 4 421 c.357G>T c.(355-357)AAG>AAT p.K119N GSTA4_uc003pbd.2_Missense_Mutation_p.K26N|GSTA4_uc003pbe.2_Missense_Mutation_p.K26N|GSTA4_uc003pbf.2_Missense_Mutation_p.K119N NM_001512 NP_001503 O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 119 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity 0 Lung NSC(77;0.103) Glutathione(DB00143) TAACCACTTCCTTTTGCTGAT 0.428 5 58 --- --- --- --- PASS RAB23 51715 broad.mit.edu 37 6 57075140 57075140 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:57075140C>A uc003pds.2 - 2 245 c.39G>T c.(37-39)GTG>GTT p.V13V RAB23_uc003pdt.2_Silent_p.V13V|RAB23_uc010kac.2_Silent_p.V13V|RAB23_uc010kad.2_RNA NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Ras-related protein Rab-23 13 Missing. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding skin(1) 1 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCCCTACAACCACCATCTTTA 0.383 6 124 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74520791 74520791 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:74520791C>T uc003php.2 + 28 4048 c.3623C>T c.(3622-3624)ACC>ATC p.T1208I CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.T1208I|CD109_uc010kba.2_Missense_Mutation_p.T1131I NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1208 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 ATCCAAGTGACCGTGACGGGG 0.468 17 48 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75814968 75814968 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:75814968G>T uc003phs.2 - 54 8385 c.8219C>A c.(8218-8220)ACA>AAA p.T2740K COL12A1_uc003pht.2_Missense_Mutation_p.T1576K NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2740 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CTGTGTACATGTGCAAGAATT 0.393 7 15 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151917703 151917703 + Missense_Mutation SNP T G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:151917703T>G uc003qol.2 + 9 1790 c.1701T>G c.(1699-1701)AAT>AAG p.N567K NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 567 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) CCGACACCAATGAACTGAAGG 0.478 30 56 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169621534 169621534 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:169621534C>G uc003qwt.2 - 21 3610 c.3362G>C c.(3361-3363)GGC>GCC p.G1121A NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1121 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCTGATGTAGCCAGTCTTGGG 0.527 8 70 --- --- --- --- PASS COX19 90639 broad.mit.edu 37 7 1009037 1009037 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:1009037C>A uc003sjp.1 - 3 340 c.250G>T c.(250-252)GGA>TGA p.G84* ADAP1_uc010ksc.2_Intron NM_001031617 NP_001026788 Q49B96 COX19_HUMAN COX19 cytochrome c oxidase assembly homolog 84 cytosol 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) TCTGATTTTCCACTAGTCAAG 0.473 9 287 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117431826 117431826 + Nonsense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:117431826G>T uc003vjf.2 - 4 1516 c.1424C>A c.(1423-1425)TCG>TAG p.S475* NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 475 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACTTGTAGGCGAGACATCTCT 0.483 7 287 --- --- --- --- PASS TAS2R16 50833 broad.mit.edu 37 7 122635530 122635530 + Silent SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:122635530G>A uc003vkl.1 - 1 225 c.159C>T c.(157-159)GGC>GGT p.G53G NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 53 Helical; Name=2; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 AGCGAGAGATGCCCAGGCTGA 0.438 16 60 --- --- --- --- PASS ASB15 142685 broad.mit.edu 37 7 123256317 123256317 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:123256317C>A uc003vku.1 + 5 442 c.150C>A c.(148-150)GCC>GCA p.A50A ASB15_uc003vkv.1_Silent_p.A50A|ASB15_uc003vkw.1_Silent_p.A50A NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 50 intracellular signal transduction skin(2)|lung(1) 3 TTGTGGAGGCCATAAAACAAG 0.353 9 58 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135307641 135307641 + Nonsense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:135307641C>T uc003vsw.2 + 31 4478 c.4447C>T c.(4447-4449)CGA>TGA p.R1483* NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1483 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 AGTGGTCTGTCGAGATGCTTG 0.383 19 43 --- --- --- --- PASS PDIA4 9601 broad.mit.edu 37 7 148718111 148718111 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:148718111C>G uc003wff.2 - 2 499 c.217G>C c.(217-219)GAT>CAT p.D73H NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 73 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) ACAAAATTATCAAAGTTTGCA 0.348 10 33 --- --- --- --- PASS PDIA4 9601 broad.mit.edu 37 7 148718159 148718159 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:148718159C>A uc003wff.2 - 2 451 c.169G>T c.(169-171)GAA>TAA p.E57* NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 57 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TCCTTAACTTCCAAGTCGtct 0.308 5 32 --- --- --- --- PASS ZNF786 136051 broad.mit.edu 37 7 148769401 148769401 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:148769401C>A uc003wfh.2 - 4 600 c.463G>T c.(463-465)GGC>TGC p.G155C ZNF786_uc011kuk.1_Missense_Mutation_p.G118C|ZNF786_uc003wfi.2_Missense_Mutation_p.G69C NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCACTGGGGCCGCAGGCTAGT 0.592 9 12 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150555890 150555890 + Missense_Mutation SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:150555890A>G uc003why.1 + 4 5828 c.1610A>G c.(1609-1611)GAA>GGA p.E537G ABP1_uc003whz.1_Missense_Mutation_p.E537G|ABP1_uc003wia.1_Missense_Mutation_p.E537G NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 537 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) ATGAAGCTAGAAAACATCACC 0.562 7 41 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3224667 3224667 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:3224667C>A uc011kwk.1 - 20 3395 c.3005G>T c.(3004-3006)GGG>GTG p.G1002V CSMD1_uc011kwj.1_Missense_Mutation_p.G394V|CSMD1_uc003wqe.2_Missense_Mutation_p.G158V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1002 Extracellular (Potential).|CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAACACCGACCCGGTGAGCCT 0.478 6 12 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24342874 24342874 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:24342874G>C uc003xeb.2 + 10 1073 c.960G>C c.(958-960)AAG>AAC p.K320N ADAM7_uc003xec.2_Missense_Mutation_p.K92N NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 320 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GTATCATTAAGGTGGGCTGTG 0.368 5 13 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43171087 43171087 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:43171087G>C uc003xpz.1 + 7 1001 c.958G>C c.(958-960)GAA>CAA p.E320Q POTEA_uc003xqa.1_Missense_Mutation_p.E274Q NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 320 ovary(1) 1 TAAAGGAAGTGAAAATAGTCA 0.308 17 39 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87076814 87076814 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:87076814C>A uc011lfy.1 - 2 232 c.232G>T c.(232-234)GTC>TTC p.V78F NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 78 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) TCTACCCTGACAACCCTGCTG 0.448 29 34 --- --- --- --- PASS MTERFD1 51001 broad.mit.edu 37 8 97263208 97263208 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:97263208C>A uc003yhs.1 - 4 681 c.603G>T c.(601-603)GAG>GAT p.E201D MTERFD1_uc003yhr.1_Missense_Mutation_p.E80D|MTERFD1_uc010mbd.1_Missense_Mutation_p.E201D NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 201 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) GTTGGTTATCCTCTATACCCA 0.368 6 81 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2039694 2039694 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:2039694G>T uc003zhc.2 + 4 683 c.584G>T c.(583-585)GGC>GTC p.G195V SMARCA2_uc003zhd.2_Missense_Mutation_p.G195V|SMARCA2_uc010mha.2_Missense_Mutation_p.G186V NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 195 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CTGGCCCGAGGCCAGCCCCTC 0.463 20 2 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971035 21971035 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:21971035T>C uc003zpk.2 - 2 535 c.323A>G c.(322-324)GAT>GGT p.D108G MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R163R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCCCAGGCATCGCGCACGTC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 1 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84604698 84604698 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:84604698G>T uc004amn.2 + 2 239 c.192G>T c.(190-192)CAG>CAT p.Q64H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 64 integral to membrane 0 CTCAGCATCAGGGCAGAGCCA 0.398 23 19 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84608634 84608634 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:84608634G>T uc004amn.2 + 4 3296 c.3249G>T c.(3247-3249)GAG>GAT p.E1083D NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1083 integral to membrane 0 GGACAACAGAGGATGGCAGAC 0.507 5 61 --- --- --- --- PASS PTCH1 5727 broad.mit.edu 37 9 98232095 98232095 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:98232095C>A uc004avk.3 - 13 2035 c.1847G>T c.(1846-1848)AGC>ATC p.S616I PTCH1_uc010mro.2_Missense_Mutation_p.S465I|PTCH1_uc010mrp.2_Missense_Mutation_p.S465I|PTCH1_uc010mrq.2_Missense_Mutation_p.S465I|PTCH1_uc004avl.3_Missense_Mutation_p.S465I|PTCH1_uc010mrr.2_Missense_Mutation_p.S550I|PTCH1_uc004avm.3_Missense_Mutation_p.S615I|PTCH1_uc010mrs.1_Missense_Mutation_p.S284I NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 616 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.S616N(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GAAAATGTACCTTGTAAAACA 0.438 Basal_Cell_Nevus_syndrome 7 252 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107565591 107565591 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:107565591C>A uc004bcl.2 - 33 4879 c.4566G>T c.(4564-4566)AAG>AAT p.K1522N NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1522 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGATCTTGTTCTTTAAGCTGC 0.408 6 185 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136661648 136661648 + Splice_Site SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:136661648T>A uc004ces.2 - 11 983 c.937_splice c.e11-1 p.E313_splice VAV2_uc004cer.2_Splice_Site_p.E308_splice NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TGTGCACTCCTGGGAGGGCGA 0.597 7 3 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33502401 33502401 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr10:33502401C>A uc001iwx.3 - 9 2050 c.1527G>T c.(1525-1527)AAG>AAT p.K509N NRP1_uc001iwv.3_Missense_Mutation_p.K509N|NRP1_uc009xlz.2_Missense_Mutation_p.K509N|NRP1_uc001iww.3_Missense_Mutation_p.K328N|NRP1_uc001iwy.3_Missense_Mutation_p.K509N|NRP1_uc001iwz.2_Missense_Mutation_p.K509N|NRP1_uc001ixa.2_Missense_Mutation_p.K509N|NRP1_uc001ixb.1_Missense_Mutation_p.K509N|NRP1_uc001ixc.1_Missense_Mutation_p.K509N NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 509 Extracellular (Potential).|F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TCATGAACACCTTGTTCTCTC 0.532 6 102 --- --- --- --- PASS MBL2 4153 broad.mit.edu 37 10 54531335 54531335 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr10:54531335C>A uc001jjt.2 - 1 126 c.61G>T c.(61-63)GAA>TAA p.E21* NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 21 Cys-rich. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 GTCACAGTTTCTGAGTAAGAC 0.532 6 14 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119044409 119044409 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr10:119044409G>T uc001lde.1 - 5 2034 c.1835C>A c.(1834-1836)CCA>CAA p.P612Q NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 612 Pro-rich. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GAGAACATCTGGTTCTGCCTG 0.483 5 65 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120810778 120810778 + Nonsense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr10:120810778G>T uc001ldu.2 - 15 2398 c.2252C>A c.(2251-2253)TCA>TAA p.S751* EIF3A_uc010qsu.1_Nonsense_Mutation_p.S717*|EIF3A_uc009xzg.1_5'Flank NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 751 Interaction with EIF3B.|Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AAGCATTCGTGACATTCGATT 0.363 5 53 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4104567 4104567 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:4104567G>C uc001lyv.2 + 10 1881 c.1313G>C c.(1312-1314)GGC>GCC p.G438A STIM1_uc009yef.2_Missense_Mutation_p.G438A|STIM1_uc009yeg.2_Missense_Mutation_p.G265A NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 438 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) ATCCTCTGTGGCTTCCAGATT 0.582 13 28 --- --- --- --- PASS TRIM68 55128 broad.mit.edu 37 11 4624558 4624558 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:4624558C>T uc001lzf.1 - 3 677 c.439G>A c.(439-441)GAG>AAG p.E147K TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.E147K NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 147 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) TCGAGGGCCTCATGAAGTTCC 0.552 15 25 --- --- --- --- PASS SYT9 143425 broad.mit.edu 37 11 7335113 7335113 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:7335113G>C uc001mfe.2 + 3 1222 c.985G>C c.(985-987)GAC>CAC p.D329H SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 329 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCACTTCCTAGACTTGGCTGA 0.478 35 82 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22239812 22239812 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:22239812G>T uc001mqi.2 + 4 476 c.159G>T c.(157-159)TTG>TTT p.L53F ANO5_uc001mqj.2_Missense_Mutation_p.L52F NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 53 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GATTCAATTTGTTCCTGAGGC 0.403 16 17 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26621132 26621132 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:26621132G>T uc001mqt.3 + 17 1852 c.1707G>T c.(1705-1707)GTG>GTT p.V569V ANO3_uc010rdr.1_Silent_p.V553V|ANO3_uc010rds.1_Silent_p.V408V|ANO3_uc010rdt.1_Silent_p.V423V NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 569 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTGGAGTTGTGGTGTACCGCC 0.398 5 57 --- --- --- --- PASS PRR5L 79899 broad.mit.edu 37 11 36484109 36484109 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:36484109G>T uc001mwo.3 + 9 1319 c.930G>T c.(928-930)TCG>TCT p.S310S PRR5L_uc001mwp.2_Silent_p.S310S|PRR5L_uc009ykk.2_Silent_p.S182S|PRR5L_uc010rfc.1_3'UTR NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 310 ovary(1) 1 TGATGCACTCGGGCCTGGGGG 0.667 3 2 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55339800 55339800 + Nonsense_Mutation SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:55339800T>A uc010rih.1 + 1 197 c.197T>A c.(196-198)TTA>TAA p.L66* NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TACTTATCCTTATCTGATACT 0.413 26 71 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406117 55406117 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:55406117G>C uc010rij.1 + 1 284 c.284G>C c.(283-285)TGT>TCT p.C95S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATAATAACTGTATGATACAA 0.438 32 44 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55607001 55607001 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:55607001C>A uc010rio.1 + 1 774 c.774C>A c.(772-774)CTC>CTA p.L258L NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) GCACCATCCTCTTCCTCTACT 0.532 5 57 --- --- --- --- PASS OR5B21 219968 broad.mit.edu 37 11 58274946 58274946 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:58274946G>T uc010rki.1 - 1 633 c.633C>A c.(631-633)ATC>ATA p.I211I NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGAAATAAGGATGACCAGGA 0.488 11 17 --- --- --- --- PASS MS4A3 932 broad.mit.edu 37 11 59834551 59834551 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:59834551C>T uc001nom.2 + 5 607 c.479C>T c.(478-480)CCG>CTG p.P160L MS4A3_uc001non.2_Missense_Mutation_p.P114L|MS4A3_uc001noo.2_Missense_Mutation_p.P37L NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 160 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TCAGAGTCACCGGACCTATGC 0.358 6 7 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62291567 62291567 + Missense_Mutation SNP T G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:62291567T>G uc001ntl.2 - 5 10622 c.10322A>C c.(10321-10323)GAA>GCA p.E3441A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3441 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAAGTCACCTTCTAAATTGGG 0.413 18 33 --- --- --- --- PASS PLCB3 5331 broad.mit.edu 37 11 64026124 64026124 + Nonsense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:64026124G>T uc001nzb.2 + 11 1192 c.1192G>T c.(1192-1194)GAG>TAG p.E398* PLCB3_uc009ypg.1_Nonsense_Mutation_p.E398*|PLCB3_uc009yph.1_Nonsense_Mutation_p.E331*|PLCB3_uc009ypi.2_Nonsense_Mutation_p.E398* NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 398 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GGCCATTGCCGAGACTGCCTT 0.627 4 48 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70003075 70003075 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:70003075G>T uc001opj.2 + 16 1831 c.1526G>T c.(1525-1527)TGG>TTG p.W509L ANO1_uc001opk.1_Missense_Mutation_p.W451L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.W218L NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 509 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 AAGCTGACATGGAGAGATCGG 0.498 6 147 --- --- --- --- PASS CTTN 2017 broad.mit.edu 37 11 70277370 70277370 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:70277370C>A uc001opv.3 + 15 1456 c.1250C>A c.(1249-1251)TCG>TAG p.S417* CTTN_uc001opu.2_Nonsense_Mutation_p.S380*|CTTN_uc001opw.3_Nonsense_Mutation_p.S380*|CTTN_uc010rqm.1_Nonsense_Mutation_p.S101*|CTTN_uc001opx.2_Nonsense_Mutation_p.S101* NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 417 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGGCTGCCCTCGAGCCCCGTC 0.567 5 151 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119103295 119103295 + Silent SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:119103295A>G uc001pwe.2 + 2 471 c.333A>G c.(331-333)GAA>GAG p.E111E NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 111 Cbl-PTB.|4H. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CACTTGGAGAAAATGAGTATT 0.393 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 25 43 --- --- --- --- PASS C11orf63 79864 broad.mit.edu 37 11 122828115 122828115 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:122828115G>T uc001pym.2 + 8 2352 c.2055G>T c.(2053-2055)AAG>AAT p.K685N NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 685 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) AACAAGTCAAGGAGTACAACA 0.373 5 72 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128628202 128628202 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:128628202G>A uc010sbu.1 + 2 552 c.211G>A c.(211-213)GAC>AAC p.D71N FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_Missense_Mutation_p.D38N|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_Missense_Mutation_p.D38N NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 71 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GCGGGAGTATGACCACATGAA 0.577 T EWSR1 Ewing sarcoma 7 14 --- --- --- --- PASS TMEM45B 120224 broad.mit.edu 37 11 129724601 129724601 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr11:129724601T>C uc001qfe.1 + 3 336 c.275T>C c.(274-276)ATG>ACG p.M92T TMEM45B_uc001qff.1_Missense_Mutation_p.M92T NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 92 integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) CACAGCACCATGTACCTATTC 0.522 12 25 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7519883 7519883 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:7519883C>T uc001qsy.2 - 18 4254 c.4228G>A c.(4228-4230)GAG>AAG p.E1410K CD163L1_uc010sge.1_Missense_Mutation_p.E1420K NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1410 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GTCTCCATCTCATGGAATAAA 0.488 11 36 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7985369 7985369 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:7985369G>T uc001qtk.2 - 8 922 c.129C>A c.(127-129)ATC>ATA p.I43I SLC2A14_uc001qtl.2_Silent_p.I20I|SLC2A14_uc001qtm.2_Silent_p.I20I|SLC2A14_uc010sgg.1_5'UTR|SLC2A14_uc001qtn.2_Silent_p.I43I|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.I58I NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 43 Helical; Name=1; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) GGAAAGAGCCGATTGTAGCAA 0.473 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 44 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56580987 56580987 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:56580987G>A uc001skb.2 - 2 321 c.215C>T c.(214-216)CCG>CTG p.P72L SMARCC2_uc001skd.2_Missense_Mutation_p.P72L|SMARCC2_uc001ska.2_Missense_Mutation_p.P72L|SMARCC2_uc001skc.2_Missense_Mutation_p.P72L|SMARCC2_uc010sqf.1_5'UTR NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 72 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTTAGTGAGCGGTGCATTGCT 0.463 21 71 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104033910 104033910 + Nonsense_Mutation SNP G T T rs12319476 byFrequency TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:104033910G>T uc001tjw.2 + 9 1102 c.916G>T c.(916-918)GAG>TAG p.E306* NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 306 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GTCTCACTGCGAGTGTAAGGA 0.383 4 79 --- --- --- --- PASS PLBD2 196463 broad.mit.edu 37 12 113824871 113824871 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:113824871G>T uc001tve.2 + 10 1451 c.1416G>T c.(1414-1416)ATG>ATT p.M472I PLBD2_uc001tvf.2_Missense_Mutation_p.M440I NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 isoform 1 472 lipid catabolic process lysosomal lumen hydrolase activity 0 TACAAGACATGGACTCCATGG 0.597 5 68 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129442181 129442181 + Missense_Mutation SNP A T T rs143132819 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr12:129442181A>T uc010tbh.1 + 12 896 c.887A>T c.(886-888)AAT>ATT p.N296I GLT1D1_uc001uhx.1_Missense_Mutation_p.N211I|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 291 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTGTTTTCCAATCCTCAGGTA 0.448 7 17 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38160416 38160416 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr13:38160416G>A uc001uwo.3 - 7 873 c.755C>T c.(754-756)GCA>GTA p.A252V POSTN_uc001uwp.3_Missense_Mutation_p.A252V|POSTN_uc001uwr.2_Missense_Mutation_p.A252V|POSTN_uc001uwq.2_Missense_Mutation_p.A252V|POSTN_uc010teu.1_Missense_Mutation_p.A252V|POSTN_uc010tev.1_Missense_Mutation_p.A252V|POSTN_uc010tew.1_Missense_Mutation_p.A252V|POSTN_uc010tex.1_Missense_Mutation_p.A167V NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 252 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GATGGCAGCTGCCTGAAACAC 0.458 11 35 --- --- --- --- PASS C13orf23 80209 broad.mit.edu 37 13 39587739 39587739 + Silent SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr13:39587739G>A uc001uwy.2 - 11 2523 c.1650C>T c.(1648-1650)TCC>TCT p.S550S C13orf23_uc001uwz.2_Silent_p.S528S NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 550 Ser-rich. ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) TCAGGGGAGTGGAAGTTGAGT 0.587 20 58 --- --- --- --- PASS ELF1 1997 broad.mit.edu 37 13 41517101 41517101 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr13:41517101C>T uc001uxs.2 - 7 1166 c.793G>A c.(793-795)GGA>AGA p.G265R ELF1_uc010tfc.1_Missense_Mutation_p.G241R|ELF1_uc010acd.2_Missense_Mutation_p.G158R NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 265 ETS. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) AGTGCTCTTCCCATGGTCTCA 0.358 13 32 --- --- --- --- PASS NEK5 341676 broad.mit.edu 37 13 52693485 52693485 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr13:52693485T>C uc001vge.2 - 4 324 c.184A>G c.(184-186)AAC>GAC p.N62D NEK5_uc001vgf.2_Missense_Mutation_p.N62D NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 62 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GCTACAATGTTGGGATGTTTC 0.294 19 22 --- --- --- --- PASS SLITRK6 84189 broad.mit.edu 37 13 86369450 86369450 + Silent SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr13:86369450A>G uc001vll.1 - 2 1653 c.1194T>C c.(1192-1194)CGT>CGC p.R398R SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 398 Extracellular (Potential).|LRR 7. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GAACTTCAATACGATTGTTTC 0.353 12 30 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291404 33291404 + Missense_Mutation SNP A C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:33291404A>C uc001wrq.2 + 13 4555 c.4385A>C c.(4384-4386)CAT>CCT p.H1462P NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1462 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CAAGGAAAACATGATGTGTTT 0.368 6 32 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65207982 65207982 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:65207982A>T uc001xho.1 + 16 2016 c.1747A>T c.(1747-1749)ATG>TTG p.M583L PLEKHG3_uc001xhn.1_Missense_Mutation_p.M527L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.M704L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.M125L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.M88L NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 583 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGAAGAAGAAATGGGAGGTGC 0.627 13 16 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95590801 95590801 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:95590801G>T uc001ydw.2 - 9 1290 c.1108C>A c.(1108-1110)CTG>ATG p.L370M DICER1_uc001ydv.2_Missense_Mutation_p.L360M|DICER1_uc001ydx.2_Missense_Mutation_p.L370M NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 370 Required for interaction with PRKRA and TARBP2. 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) ACAAATTTCAGGTCAAGTGAG 0.383 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 124 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102474667 102474667 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:102474667C>A uc001yks.2 + 29 6134 c.5970C>A c.(5968-5970)TAC>TAA p.Y1990* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1990 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ACCCCAACTACGACAAGAGTA 0.458 7 25 --- --- --- --- PASS RCOR1 23186 broad.mit.edu 37 14 103174886 103174886 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:103174886C>A uc001ymb.2 + 6 736 c.736C>A c.(736-738)CAT>AAT p.H246N NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 246 Interaction with HDAC1.|Potential. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 GATGGATCGCCATGCCCGGAA 0.443 7 219 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106321604 106321604 + RNA SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr14:106321604C>T uc010tyt.1 - 3599 c.55792G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 ACATGGAGGACGCATTCTGCT 0.637 8 5 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25959028 25959028 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:25959028C>T uc010ayu.2 - 10 2243 c.2137G>A c.(2137-2139)GTG>ATG p.V713M NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 713 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCACAAGCACGCAGTTGTAG 0.647 4 17 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26812774 26812774 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:26812774C>A uc001zaz.2 - 7 931 c.789G>T c.(787-789)GTG>GTT p.V263V GABRB3_uc010uae.1_Silent_p.V178V|GABRB3_uc001zba.2_Silent_p.V263V|GABRB3_uc001zbb.2_Silent_p.V319V NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 263 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCCAGAAGGACACCCACGACA 0.398 10 23 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29398955 29398955 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:29398955A>T uc001zck.2 + 11 2057 c.1850A>T c.(1849-1851)CAG>CTG p.Q617L APBA2_uc010azj.2_Missense_Mutation_p.Q605L|APBA2_uc010uat.1_Missense_Mutation_p.Q605L|APBA2_uc001zcl.2_Missense_Mutation_p.Q605L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 617 PDZ 1. 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) ATCGGGGACCAGATCATGTCC 0.662 12 11 --- --- --- --- PASS EHD4 30844 broad.mit.edu 37 15 42246101 42246101 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:42246101C>A uc001zot.2 - 2 337 c.274G>T c.(274-276)GGT>TGT p.G92C EHD4_uc001zou.2_Missense_Mutation_p.G92C NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 92 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GGCTCCGGACCAATCCTCATG 0.522 4 38 --- --- --- --- PASS MNS1 55329 broad.mit.edu 37 15 56756394 56756394 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:56756394C>G uc002adr.2 - 2 220 c.55G>C c.(55-57)GAT>CAT p.D19H MNS1_uc010bfo.2_5'UTR NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 19 meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TAGTTTTCATCTACTAATTTC 0.333 25 54 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79750567 79750567 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:79750567G>A uc002bew.1 + 2 2153 c.2078G>A c.(2077-2079)AGC>AAC p.S693N KIAA1024_uc010unk.1_Missense_Mutation_p.S693N NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 693 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 AACAGTGAAAGCCTGCGGGTC 0.547 42 79 --- --- --- --- PASS FAM154B 283726 broad.mit.edu 37 15 82575397 82575397 + Silent SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:82575397C>G uc002bgv.2 + 3 1260 c.1191C>G c.(1189-1191)GCC>GCG p.A397A FAM154B_uc010unr.1_Silent_p.A382A|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 397 skin(2) 2 CAGTGAAGGCCTTCTAATAAC 0.333 8 19 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85478700 85478700 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr15:85478700G>A uc002blg.2 + 15 1734 c.1532G>A c.(1531-1533)CGC>CAC p.R511H SLC28A1_uc010bnb.2_Missense_Mutation_p.R511H|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.R511H|SLC28A1_uc010upg.1_Missense_Mutation_p.R511H NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 511 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) AAGCAACGCCGCCTGGCAGGG 0.617 5 42 --- --- --- --- PASS MSLN 10232 broad.mit.edu 37 16 814042 814042 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:814042C>T uc002cjw.1 + 5 250 c.199C>T c.(199-201)CTT>TTT p.L67F MSLN_uc002cjt.1_Missense_Mutation_p.L67F|MSLN_uc002cju.1_Missense_Mutation_p.L67F|MSLN_uc010brd.1_Missense_Mutation_p.L66F|MSLN_uc002cjv.1_Missense_Mutation_p.L67F|MSLN_uc002cjx.1_Missense_Mutation_p.L67F|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 67 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) TCGCCAACTCCTTGGCTTCCC 0.662 8 8 --- --- --- --- PASS CLDN9 9080 broad.mit.edu 37 16 3063982 3063982 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:3063982G>T uc010uwo.1 + 1 1526 c.619G>T c.(619-621)GGT>TGT p.G207C NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 207 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTCCCGCTCGGGTGCATCTGG 0.701 5 51 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3777896 3777896 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:3777896G>T uc002cvv.2 - 31 7356 c.7152C>A c.(7150-7152)CAC>CAA p.H2384Q CREBBP_uc002cvw.2_Missense_Mutation_p.H2346Q NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2384 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CGAGTCCGGGGTGGGGGGAAC 0.647 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 9 36 --- --- --- --- PASS SEC14L5 9717 broad.mit.edu 37 16 5053517 5053517 + Silent SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:5053517C>T uc002cye.2 + 11 1425 c.1245C>T c.(1243-1245)ACC>ACT p.T415T NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 415 CRAL-TRIO. integral to membrane|intracellular transporter activity 0 ACCCAGAGACCCTGGGTCGGC 0.647 10 7 --- --- --- --- PASS PDXDC1 23042 broad.mit.edu 37 16 15098131 15098131 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:15098131G>T uc002dda.3 + 5 554 c.330G>T c.(328-330)CTG>CTT p.L110L PDXDC1_uc010uzl.1_Silent_p.L95L|PDXDC1_uc010uzm.1_Intron|PDXDC1_uc010bvc.1_Silent_p.L51L|PDXDC1_uc002dcz.2_Silent_p.L110L|PDXDC1_uc002ddb.3_Silent_p.L83L|PDXDC1_uc010uzn.1_Silent_p.L82L|PDXDC1_uc002ddc.2_Silent_p.L110L NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 110 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) AAGAGAAGCTGAGAAAACTTA 0.373 6 179 --- --- --- --- PASS OGFOD1 55239 broad.mit.edu 37 16 56496445 56496445 + Splice_Site SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:56496445G>T uc002ejb.2 + 4 449 c.348_splice c.e4-1 p.R116_splice OGFOD1_uc002ejc.2_Splice_Site NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) TACATTTCTAGGAAAATTCTG 0.378 4 33 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77401602 77401602 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:77401602G>C uc002ffc.3 - 4 933 c.514C>G c.(514-516)CGA>GGA p.R172G ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCATTTTTTCGTGTCCTTATT 0.463 30 18 --- --- --- --- PASS PRDM7 11105 broad.mit.edu 37 16 90126948 90126948 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr16:90126948C>T uc010cje.2 - 9 1054 c.1034G>A c.(1033-1035)CGA>CAA p.R345Q PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.R139Q NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 345 SET. chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCTAATGACTCGGCAGGTTCT 0.547 15 38 --- --- --- --- PASS ALOX12B 242 broad.mit.edu 37 17 7979001 7979001 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:7979001C>A uc002gjy.1 - 12 1827 c.1566G>T c.(1564-1566)CCG>CCT p.P522P NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 522 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CTGCGTCACTCGGGTAATAAT 0.577 Multiple Myeloma(8;0.094) 5 144 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29684312 29684312 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:29684312A>T uc002hgg.2 + 54 8228 c.7895A>T c.(7894-7896)GAT>GTT p.D2632V NF1_uc002hgh.2_Missense_Mutation_p.D2611V|NF1_uc010cso.2_Missense_Mutation_p.D820V|NF1_uc010wbt.1_Missense_Mutation_p.D110V|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2632 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.D2632E(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATACCACAGATGAGTTTGAT 0.358 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 24 22 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37565935 37565935 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:37565935C>T uc002hrv.3 - 17 2751 c.2539G>A c.(2539-2541)GGA>AGA p.G847R MED1_uc010wee.1_Missense_Mutation_p.G675R|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 847 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTGGGGCTTCCAGCAGCATCT 0.408 HNSCC(31;0.082) 17 49 --- --- --- --- PASS CD300LG 146894 broad.mit.edu 37 17 41931189 41931189 + Missense_Mutation SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:41931189T>A uc002iem.2 + 4 537 c.496T>A c.(496-498)TAC>AAC p.Y166N CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.2_Missense_Mutation_p.Y166N|CD300LG_uc010wil.1_Missense_Mutation_p.Y132N|CD300LG_uc010czl.2_Intron NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 166 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCTGGGCTCTACCCGGCAGC 0.597 14 8 --- --- --- --- PASS BRIP1 83990 broad.mit.edu 37 17 59821870 59821870 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:59821870G>T uc002izk.1 - 15 2321 c.2180C>A c.(2179-2181)CCA>CAA p.P727Q BRIP1_uc002izl.1_Missense_Mutation_p.P108Q NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 727 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TCCTCCCTGTGGTTCTACAAT 0.358 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 7 143 --- --- --- --- PASS GH2 2689 broad.mit.edu 37 17 61958850 61958850 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:61958850C>A uc002jco.1 - 2 102 c.40G>T c.(40-42)GGC>TGC p.G14C GH2_uc002jcj.2_Missense_Mutation_p.G14C|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.G14C|GH2_uc002jcm.1_Missense_Mutation_p.G14C|GH2_uc002jcn.1_Missense_Mutation_p.G14C NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 14 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 CAGAGCAGGCCAAAAGCCAGG 0.622 6 128 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62018542 62018542 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:62018542G>T uc002jds.1 - 24 5177 c.5100C>A c.(5098-5100)ACC>ACA p.T1700T NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1700 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TCTCCTCCATGGTCTGCTTGA 0.587 5 82 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63221324 63221324 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr17:63221324C>A uc002jfe.2 + 18 1722 c.1612C>A c.(1612-1614)CAG>AAG p.Q538K RGS9_uc010dem.2_Missense_Mutation_p.Q535K|RGS9_uc002jfd.2_Missense_Mutation_p.Q535K|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.Q309K NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 538 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GGGCTTGGAGCAGAAAGGGGA 0.682 12 96 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3534460 3534460 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr18:3534460G>T uc002kmf.2 - 7 2278 c.2211C>A c.(2209-2211)TCC>TCA p.S737S DLGAP1_uc010wyz.1_Silent_p.S737S|DLGAP1_uc002kme.1_Silent_p.S435S|DLGAP1_uc010dkn.2_Silent_p.S445S|DLGAP1_uc010wyw.1_Silent_p.S443S|DLGAP1_uc010wyx.1_Silent_p.S459S|DLGAP1_uc010wyy.1_Silent_p.S421S|DLGAP1_uc002kmg.2_Silent_p.S435S NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 737 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TGCTGACTGTGGAGGTGCTGG 0.527 4 27 --- --- --- --- PASS SPIRE1 56907 broad.mit.edu 37 18 12449639 12449639 + Nonstop_Mutation SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr18:12449639A>G uc002kre.2 - 17 2316 c.2269T>C c.(2269-2271)TGA>CGA p.*757R SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Nonstop_Mutation_p.*623R|SPIRE1_uc010wzx.1_Nonstop_Mutation_p.*546R|SPIRE1_uc010wzy.1_Nonstop_Mutation_p.*743R NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 757 cytoskeleton|perinuclear region of cytoplasm actin binding 0 CACGAGGCTCAGATCTCACTG 0.542 7 11 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28598040 28598040 + Silent SNP T A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr18:28598040T>A uc002kwj.3 - 9 1415 c.1260A>T c.(1258-1260)GTA>GTT p.V420V DSC3_uc002kwi.3_Silent_p.V420V NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 420 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACTGTACCTTTACAACAGAAA 0.269 14 48 --- --- --- --- PASS MEP1B 4225 broad.mit.edu 37 18 29793244 29793244 + Missense_Mutation SNP T C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr18:29793244T>C uc002kxj.3 + 11 1348 c.1301T>C c.(1300-1302)ATA>ACA p.I434T NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 434 Extracellular (Potential).|MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 ATCTGGCATATAAGGAATTTC 0.423 8 88 --- --- --- --- PASS ZNF516 9658 broad.mit.edu 37 18 74091542 74091542 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr18:74091542C>A uc010dqx.1 - 3 2763 c.2528G>T c.(2527-2529)GGG>GTG p.G843V ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCCGGCATCCCCCCTGGCAC 0.637 4 25 --- --- --- --- PASS DCAF15 90379 broad.mit.edu 37 19 14069902 14069902 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:14069902C>T uc002mxt.2 + 7 836 c.830C>T c.(829-831)CCC>CTC p.P277L DCAF15_uc002mxu.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 277 central_nervous_system(1) 1 AGCACCTGCCCCCTGGCGCCT 0.657 7 79 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17759368 17759368 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:17759368G>A uc002nhd.2 - 16 1952 c.1952C>T c.(1951-1953)ACG>ATG p.T651M NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 563 Phorbol-ester/DAG-type. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GTAGGTGGGCGTGGTGGCCGT 0.602 7 28 --- --- --- --- PASS ELL 8178 broad.mit.edu 37 19 18555600 18555600 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:18555600C>T uc002njh.2 - 12 1900 c.1828G>A c.(1828-1830)GCC>ACC p.A610T ELL_uc010ebq.2_Missense_Mutation_p.A553T|ELL_uc002njg.2_Missense_Mutation_p.A477T NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 610 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) TCGTACTCGGCGATGAGCCTC 0.637 T MLL AL 11 13 --- --- --- --- PASS ZNF792 126375 broad.mit.edu 37 19 35451839 35451839 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:35451839G>T uc002nxh.1 - 2 480 c.93C>A c.(91-93)CTC>CTA p.L31L NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGCCTCATCGAGGAGCACCC 0.557 5 246 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35822955 35822955 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:35822955C>A uc010edt.2 + 2 89 c.12C>A c.(10-12)CTC>CTA p.L4L CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.L4L|CD22_uc010edv.2_Silent_p.L4L|CD22_uc002nzb.3_Silent_p.L4L NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 4 cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGCATCTCCTCGGCCCCTGGC 0.592 6 349 --- --- --- --- PASS COX6B1 1340 broad.mit.edu 37 19 36142160 36142160 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:36142160G>T uc002oav.2 + 2 177 c.15G>T c.(13-15)ATG>ATT p.M5I NM_001863 NP_001854 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 5 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGAAGACATGGAGACCAAAA 0.567 6 176 --- --- --- --- PASS HKR1 284459 broad.mit.edu 37 19 37853645 37853645 + Silent SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:37853645G>C uc002ogb.2 + 6 1217 c.948G>C c.(946-948)CTG>CTC p.L316L HKR1_uc002ofx.2_Silent_p.L32L|HKR1_uc002ofy.2_Silent_p.L32L|HKR1_uc002oga.2_Silent_p.L298L|HKR1_uc010xto.1_Silent_p.L298L|HKR1_uc002ogc.2_Silent_p.L297L|HKR1_uc010xtp.1_Silent_p.L255L|HKR1_uc002ogd.2_Silent_p.L255L NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 316 C2H2-type 1. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGTCAAACCTGATCACACATC 0.498 11 202 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37880525 37880525 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:37880525C>A uc010efk.1 + 5 1685 c.1574C>A c.(1573-1575)CCC>CAC p.P525H ZNF527_uc002ogf.3_Missense_Mutation_p.P493H|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAGAGAAACCCTATGAATGT 0.393 7 196 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38103316 38103316 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:38103316G>T uc002ogq.2 + 5 1467 c.1135G>T c.(1135-1137)GGT>TGT p.G379C ZNF540_uc002ogu.2_Missense_Mutation_p.G379C|ZNF540_uc010efq.2_Missense_Mutation_p.G347C NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACTCATGCAGGTAAGAAACC 0.368 8 120 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39090611 39090611 + Silent SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:39090611C>G uc002oix.1 - 22 1731 c.1623G>C c.(1621-1623)CGG>CGC p.R541R MAP4K1_uc002oiw.1_Silent_p.R128R|MAP4K1_uc002oiy.1_Silent_p.R541R|MAP4K1_uc010xug.1_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 541 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCACGTAGTCCGGCTAGGAA 0.602 26 151 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39090744 39090744 + Silent SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:39090744C>G uc002oix.1 - 21 1689 c.1581G>C c.(1579-1581)CGG>CGC p.R527R MAP4K1_uc002oiw.1_Silent_p.R114R|MAP4K1_uc002oiy.1_Silent_p.R527R|MAP4K1_uc010xug.1_Silent_p.R189R NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 527 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTGGTCATTCCGGTTCAGGA 0.632 6 41 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39090770 39090770 + Missense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:39090770C>G uc002oix.1 - 21 1663 c.1555G>C c.(1555-1557)GAG>CAG p.E519Q MAP4K1_uc002oiw.1_Missense_Mutation_p.E106Q|MAP4K1_uc002oiy.1_Missense_Mutation_p.E519Q|MAP4K1_uc010xug.1_Missense_Mutation_p.E181Q NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 519 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) ATGCCTTCCTCTGCCCCCAGG 0.622 6 40 --- --- --- --- PASS CCDC8 83987 broad.mit.edu 37 19 46915941 46915941 + Missense_Mutation SNP G C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:46915941G>C uc002pep.2 - 1 979 c.127C>G c.(127-129)CAG>GAG p.Q43E NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 43 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) tccaggaactgggtcagccgc 0.129 23 5 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56467436 56467436 + Missense_Mutation SNP A T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:56467436A>T uc002qmh.2 + 3 2083 c.2012A>T c.(2011-2013)AAG>ATG p.K671M NLRP8_uc010etg.2_Missense_Mutation_p.K671M NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 671 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AACGTGTGGAAGCTCAGCTCC 0.532 31 8 --- --- --- --- PASS ZNF582 147948 broad.mit.edu 37 19 56901403 56901403 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr19:56901403C>A uc002qmz.1 - 4 358 c.199G>T c.(199-201)GTG>TTG p.V67L ZNF582_uc002qmy.2_Missense_Mutation_p.V98L NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ACTCTCTCCACCATCCAGGGC 0.483 3 26 --- --- --- --- PASS SPTLC3 55304 broad.mit.edu 37 20 13090814 13090814 + Silent SNP A G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr20:13090814A>G uc002wod.1 + 7 1171 c.882A>G c.(880-882)CGA>CGG p.R294R NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 294 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) GCCAGCCTCGAACCCGCAGAG 0.438 9 20 --- --- --- --- PASS SNAI1 6615 broad.mit.edu 37 20 48600418 48600418 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr20:48600418C>T uc002xuz.2 + 2 210 c.140C>T c.(139-141)CCG>CTG p.P47L NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 47 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) ATCCCACCTCCGGAGATCCTC 0.597 17 29 --- --- --- --- PASS ZNF280A 129025 broad.mit.edu 37 22 22868913 22868913 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr22:22868913G>T uc002zwe.2 - 2 1295 c.1042C>A c.(1042-1044)CAG>AAG p.Q348K LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 348 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CACTGTAGCTGGAAGGGAGTG 0.493 6 67 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24434905 24434905 + Missense_Mutation SNP G A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr22:24434905G>A uc002zzi.1 + 4 333 c.206G>A c.(205-207)CGG>CAG p.R69Q CABIN1_uc002zzj.1_Missense_Mutation_p.R69Q|CABIN1_uc002zzl.1_Missense_Mutation_p.R69Q|CABIN1_uc010guk.1_Missense_Mutation_p.R69Q|CABIN1_uc002zzk.1_Missense_Mutation_p.R69Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 69 TPR 1. cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGCCTGCTGCGGGAGGTGAGG 0.358 23 21 --- --- --- --- PASS GCAT 23464 broad.mit.edu 37 22 38211693 38211693 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr22:38211693C>T uc003atz.2 + 7 858 c.838C>T c.(838-840)CCC>TCC p.P280S GCAT_uc003aua.1_Missense_Mutation_p.P306S NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 280 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGGCCTGGGCCCCTGGTGTC 0.652 15 49 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40660695 40660695 + Nonsense_Mutation SNP C G G TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr22:40660695C>G uc011aor.1 + 5 672 c.461C>G c.(460-462)TCA>TGA p.S154* TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S154*|TNRC6B_uc003ayo.2_5'UTR NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 154 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 TCCCCAGACTCAACCCTTGGA 0.498 7 40 --- --- --- --- PASS MED14 9282 broad.mit.edu 37 X 40534580 40534580 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:40534580C>T uc004dex.3 - 22 3054 c.2914G>A c.(2914-2916)GAT>AAT p.D972N NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 972 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 CTTCGAGCATCCTGATTGCTG 0.358 4 3 --- --- --- --- PASS SATL1 340562 broad.mit.edu 37 X 84362697 84362697 + Silent SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:84362697C>A uc011mqx.1 - 1 1278 c.1278G>T c.(1276-1278)CCG>CCT p.P426P SATL1_uc004een.2_Silent_p.P426P NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 239 Gln-rich. P -> L (in Ref. 2; AAI26402). N-acetyltransferase activity breast(2) 2 TTGGTTGCCTCGGGACTGGTT 0.562 4 109 --- --- --- --- PASS POF1B 79983 broad.mit.edu 37 X 84560850 84560850 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:84560850C>A uc004eer.2 - 13 1530 c.1384G>T c.(1384-1386)GAG>TAG p.E462* POF1B_uc004ees.2_Nonsense_Mutation_p.E462* NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 462 actin binding 0 TTTACCATCTCCGTGTAGTGG 0.408 9 405 --- --- --- --- PASS CENPI 2491 broad.mit.edu 37 X 100387224 100387224 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:100387224C>A uc004egx.2 + 13 1603 c.1333C>A c.(1333-1335)CTC>ATC p.L445I CENPI_uc011mrg.1_Missense_Mutation_p.L445I|CENPI_uc004egy.2_Missense_Mutation_p.L445I NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 445 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 GAGCCTTCCTCTCTGGGATGG 0.398 8 366 --- --- --- --- PASS TAF7L 54457 broad.mit.edu 37 X 100547911 100547911 + Silent SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:100547911G>T uc004ehb.2 - 1 135 c.123C>A c.(121-123)ACC>ACA p.T41T TAF7L_uc004ehc.1_5'Flank NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 41 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 TTTCATAGGTGGTTTCAGACC 0.527 11 490 --- --- --- --- PASS GPRASP2 114928 broad.mit.edu 37 X 101972177 101972177 + Nonsense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:101972177G>T uc004ejk.2 + 4 3714 c.2380G>T c.(2380-2382)GGA>TGA p.G794* GPRASP2_uc004ejl.2_Nonsense_Mutation_p.G794*|GPRASP2_uc004ejm.2_Nonsense_Mutation_p.G794*|GPRASP2_uc011mrp.1_Nonsense_Mutation_p.G133* NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 794 cytoplasm protein binding ovary(1) 1 TATAAAAAGTGGAAAGATGTC 0.308 8 468 --- --- --- --- PASS IL1RAPL2 26280 broad.mit.edu 37 X 105011134 105011134 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:105011134G>T uc004elz.1 + 11 2297 c.1541G>T c.(1540-1542)GGG>GTG p.G514V NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 514 Cytoplasmic (Potential).|TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GAATTAAAAGGGAAAGTGAAT 0.403 10 342 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105167219 105167219 + Missense_Mutation SNP C T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:105167219C>T uc004emd.2 + 18 3023 c.2720C>T c.(2719-2721)CCG>CTG p.P907L NRK_uc010npc.1_Missense_Mutation_p.P575L NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 907 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TGGTTAACTCCGGCACCTGTC 0.343 HNSCC(51;0.14) 12 140 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107446160 107446160 + Missense_Mutation SNP G T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:107446160G>T uc004enw.3 - 13 938 c.835C>A c.(835-837)CCG>ACG p.P279T COL4A6_uc004env.3_Missense_Mutation_p.P278T|COL4A6_uc011msn.1_Missense_Mutation_p.P278T|COL4A6_uc010npk.2_Missense_Mutation_p.P278T NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 279 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 AGACTTACCGGGAAGCCTGGA 0.463 Alport_syndrome_with_Diffuse_Leiomyomatosis 11 554 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108619384 108619384 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:108619384C>A uc004eod.3 - 18 3439 c.3163G>T c.(3163-3165)GAG>TAG p.E1055* GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1055 Cytoplasmic (Potential). E -> D (in a lung squamous cell carcinoma sample; somatic mutation). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.E1055D(1) lung(4)|breast(3)|central_nervous_system(1) 8 AAGGTTTCCTCTGTGCCTTTG 0.408 7 279 --- --- --- --- PASS CHRDL1 91851 broad.mit.edu 37 X 109963156 109963156 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:109963156C>A uc004eou.3 - 6 797 c.448G>T c.(448-450)GAG>TAG p.E150* CHRDL1_uc004eov.2_Nonsense_Mutation_p.E144*|CHRDL1_uc004eow.2_Nonsense_Mutation_p.E149*|CHRDL1_uc010nps.2_Nonsense_Mutation_p.E149*|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Nonsense_Mutation_p.E143* NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 143 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 ACGTTTCCCTCCTGCCAAGGA 0.463 7 166 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110494322 110494322 + Missense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:110494322C>A uc004epc.1 - 8 1149 c.981G>T c.(979-981)TTG>TTT p.L327F CAPN6_uc011msu.1_Missense_Mutation_p.L72F NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 327 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 AAAAGTCCTCCAAGCTCATCC 0.443 9 757 --- --- --- --- PASS LHFPL1 340596 broad.mit.edu 37 X 111903881 111903881 + Missense_Mutation SNP C A A rs147016809 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:111903881C>A uc004epq.2 - 3 788 c.455G>T c.(454-456)GGG>GTG p.G152V LHFPL1_uc004epp.2_Missense_Mutation_p.G175V|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Intron NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 152 integral to membrane 0 GGAGACATTCCCACATGTTTG 0.463 11 648 --- --- --- --- PASS AMOT 154796 broad.mit.edu 37 X 112021836 112021836 + Nonsense_Mutation SNP C A A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:112021836C>A uc004epr.2 - 11 3214 c.3214G>T c.(3214-3216)GGA>TGA p.G1072* AMOT_uc004eps.2_Nonsense_Mutation_p.G663* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 1072 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 GGCTCTTGTCCCAGGATCTGA 0.408 11 484 --- --- --- --- PASS SLC6A14 11254 broad.mit.edu 37 X 115577987 115577987 + Silent SNP A C C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chrX:115577987A>C uc004eqi.2 + 7 974 c.870A>C c.(868-870)TCA>TCC p.S290S SLC6A14_uc011mtm.1_RNA NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 290 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) AGGGTGCTTCAAAAGGCATTT 0.393 14 206 --- --- --- --- PASS CROCCL1 84809 broad.mit.edu 37 1 16946455 16946456 + RNA INS - GCTCACGCTGCA GCTCACGCTGCA TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr1:16946455_16946456insGCTCACGCTGCA uc010ocf.1 - 3 c.442_443insTGCAGCGTGAGC CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA Homo sapiens mRNA for FLJ00313 protein. 0 CAGCTCCTCCTGCTCACGCTGC 0.678 6 3 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227920724 227920725 + Frame_Shift_Ins INS - T T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr2:227920724_227920725insT uc010zlt.1 - 30 3306_3307 c.2652_2653insA c.(2650-2655)CCAGGCfs p.P884fs NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 884_885 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGGAGGCCTGGGGGACCAT 0.619 22 10 --- --- --- --- Unknown 0 broad.mit.edu 37 3 195428352 195428352 + RNA DEL C - - rs11337909 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr3:195428352delC uc011btd.1 + 1 c.1531delC uc003fux.1_RNA Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869. CTGCTGTCTGCCAGTGACTGC 0.557 13 7 --- --- --- --- PRIM2 5558 broad.mit.edu 37 6 57513140 57513141 + Splice_Site INS - AACA AACA rs149351797 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr6:57513140_57513141insAACA uc003pdx.2 + 19 2070 c.1983_splice c.e19+1 NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTTGAGGTAACGAGACTTTCAC 0.347 4 2 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142605706 142605706 + Frame_Shift_Del DEL C - - TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr7:142605706delC uc003wby.1 - 15 2428 c.2164delG c.(2164-2166)GATfs p.D722fs NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 722 Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TCCTCTCCATCCCCCTCACTA 0.572 39 29 --- --- --- --- Unknown 0 broad.mit.edu 37 8 37593487 37593487 + Frame_Shift_Del DEL A - - rs112819064 TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr8:37593487delA uc003xkb.1 - 2 878 c.529delT c.(529-531)TCTfs p.S177fs ERLIN2_uc003xkc.3_5'Flank|ERLIN2_uc003xkd.2_5'Flank|ERLIN2_uc003xke.3_5'Flank|ERLIN2_uc003xkf.3_5'Flank|ERLIN2_uc003xkg.2_5'Flank SubName: Full=Putative uncharacterized protein ENSP00000328874; TCAAGGAGAGAAAAAAAAAAA 0.199 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 9 68412339 68412339 + RNA DEL A - - TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 84aca315-8380-4625-887f-a8b3c704c0a9 b5823b9b-ba3a-4d06-aae3-85a682d458f5 g.chr9:68412339delA uc004aew.1 + 2 c.501delA uc004aex.2_5'Flank Homo sapiens cDNA, FLJ98602. ACCTTTACAGAGGGCAAAGAA 0.542 4 2 --- --- --- ---