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 AGRN 375790 broad.mit.edu 37 1 985841 985841 + Nonsense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:985841C>T uc001ack.1 + 29 5061 c.5011C>T c.(5011-5013)CGA>TGA p.R1671* NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1671 Laminin G-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GTTCCTGGCACGAGGCCCCAG 0.677 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G T T rs148273194 by1000genomes TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:12885289G>T uc001auk.2 - 4 1018 c.822C>A c.(820-822)CTC>CTA p.L274L NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 274 LRR 3. 0 GGCACTGGGAGAGATGCTTCA 0.458 ESPNP 284729 broad.mit.edu 37 1 17017717 17017717 + Missense_Mutation SNP C T T rs12561804 by1000genomes TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:17017717C>T uc001azn.1 - 11 2011 c.1897G>A c.(1897-1899)GAG>AAG p.E633K NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 GCTCACCTCTCTTCTTCCAGC 0.622 ESPNP 284729 broad.mit.edu 37 1 17017734 17017734 + Missense_Mutation SNP C T T rs12561805 by1000genomes TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:17017734C>T uc001azn.1 - 11 1994 c.1880G>A c.(1879-1881)CGG>CAG p.R627Q NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CAGCTTCTTCCGCAGGAGGTC 0.647 MST1P9 11223 broad.mit.edu 37 1 17084269 17084269 + Missense_Mutation SNP G T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:17084269G>T uc010ock.1 - 13 1748 c.1748C>A c.(1747-1749)GCA>GAA p.A583E CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.A183E NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ACCCCAGCCTGCAATCTCACA 0.582 ARHGEF11 9826 broad.mit.edu 37 1 156917716 156917716 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:156917716G>A uc001fqo.2 - 24 3106 c.2066C>T c.(2065-2067)ACA>ATA p.T689I ARHGEF11_uc010phu.1_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.2_Missense_Mutation_p.T729I NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 689 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) GAGGGTATCTGTGCAGAACCC 0.562 OBSCN 84033 broad.mit.edu 37 1 228494214 228494214 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr1:228494214G>A uc009xez.1 + 44 11845 c.11801G>A c.(11800-11802)CGC>CAC p.R3934H OBSCN_uc001hsn.2_Missense_Mutation_p.R3934H NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3934 Ig-like 40. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCCAATGGGCGCCGGGAGCCA 0.652 DIP2C 22982 broad.mit.edu 37 10 395316 395316 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr10:395316C>T uc001ifp.2 - 25 3154 c.3064G>A c.(3064-3066)GGC>AGC p.G1022S DIP2C_uc009xhi.1_Missense_Mutation_p.G408S NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1022 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGAAGGTGGCCCCTCTCCATC 0.652 CALY 50632 broad.mit.edu 37 10 135142374 135142374 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr10:135142374C>T uc001lmo.2 - 2 278 c.120G>A c.(118-120)CCG>CCA p.P40P NM_015722 NP_056537 Q9NYX4 CALY_HUMAN dopamine receptor D1 interacting protein 40 Extracellular (Potential). clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis cytoplasmic vesicle membrane|integral to plasma membrane clathrin light chain binding|dopamine receptor binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06) Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831) CAGGGAGTGGCGGCTGGAGCT 0.637 ANO9 338440 broad.mit.edu 37 11 419726 419726 + Missense_Mutation SNP G T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:419726G>T uc001lpi.2 - 20 1875 c.1790C>A c.(1789-1791)ACC>AAC p.T597N SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 597 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CTGCAGCCAGGTCCCTGCACC 0.637 CHRNA10 57053 broad.mit.edu 37 11 3688571 3688571 + Silent SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:3688571G>A uc001lyf.2 - 4 858 c.786C>T c.(784-786)GCC>GCT p.A262A CHRNA10_uc010qxt.1_Silent_p.A56A|CHRNA10_uc010qxu.1_Silent_p.A56A NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 262 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CGCCTGAGTCGGCAGGCAGGT 0.706 OR52E4 390081 broad.mit.edu 37 11 5906315 5906315 + Missense_Mutation SNP T A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:5906315T>A uc010qzs.1 + 1 793 c.793T>A c.(793-795)TTT>ATT p.F265I TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACACATCGTTTTGGCCAAAA 0.423 OR5L1 219437 broad.mit.edu 37 11 55579782 55579782 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:55579782C>T uc001nhw.1 + 1 840 c.840C>T c.(838-840)GTC>GTT p.V280V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TCTACACAGTCGTGATTCCTA 0.453 PACS1 55690 broad.mit.edu 37 11 65977846 65977846 + Missense_Mutation SNP T C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:65977846T>C uc001oha.1 + 3 592 c.458T>C c.(457-459)ATT>ACT p.I153T PACS1_uc001ogz.1_Missense_Mutation_p.I153T NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 153 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TCAAAAAGAATTCTTCGCTCC 0.318 KIAA1377 57562 broad.mit.edu 37 11 101818772 101818772 + Silent SNP A G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:101818772A>G uc001pgm.2 + 4 675 c.405A>G c.(403-405)AAA>AAG p.K135K KIAA1377_uc001pgn.2_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 135 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TTTCCCGAAAACCAGTTCCTC 0.343 OR6M1 390261 broad.mit.edu 37 11 123676994 123676994 + Nonsense_Mutation SNP G A A rs150135307 TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr11:123676994G>A uc010rzz.1 - 1 64 c.64C>T c.(64-66)CGA>TGA p.R22* NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGAGATATTCGAATCTCCAGG 0.458 R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC - - TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr12:57674205_57674207delTGC uc009zpm.1 - 12 1271_1273 c.1236_1238delGCA c.(1234-1239)CAGCAA>CAA p.412_413QQ>Q R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q|R3HDM2_uc009zpn.1_In_Frame_Del_p.35_36QQ>Q NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412_413 Gln-rich. nucleus nucleic acid binding ovary(2) 2 AGCAGGAAGTtgctgctgctgct 0.488 PPP1R12A 4659 broad.mit.edu 37 12 80191152 80191152 + Silent SNP T C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr12:80191152T>C uc001syz.2 - 16 2382 c.2115A>G c.(2113-2115)CAA>CAG p.Q705Q PPP1R12A_uc010suc.1_Silent_p.Q618Q|PPP1R12A_uc001sza.2_Silent_p.Q649Q|PPP1R12A_uc010sud.1_Silent_p.Q705Q|PPP1R12A_uc001szb.2_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 705 Interaction with ROCK2. contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 TCTCAGCTTCTTGAAGATCAG 0.244 GPR109A 338442 broad.mit.edu 37 12 123187006 123187006 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr12:123187006C>T uc001ucx.1 - 1 899 c.825G>A c.(823-825)GCG>GCA p.A275A GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 275 Helical; Name=7; (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) TGATAAAGAACGCCAGGTCCA 0.542 CLEC14A 161198 broad.mit.edu 37 14 38724093 38724093 + Nonsense_Mutation SNP T A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr14:38724093T>A uc001wum.1 - 1 1482 c.1135A>T c.(1135-1137)AAG>TAG p.K379* NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 379 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GAATTAAACTTGGAAATCACG 0.502 CLEC14A 161198 broad.mit.edu 37 14 38724649 38724649 + Silent SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr14:38724649G>A uc001wum.1 - 1 926 c.579C>T c.(577-579)CGC>CGT p.R193R NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 193 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGAAGGGCGCGCGATAGCTCA 0.542 NIN 51199 broad.mit.edu 37 14 51227078 51227078 + Splice_Site SNP C G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr14:51227078C>G uc001wym.2 - 17 2088 c.1897_splice c.e17-1 p.V633_splice NIN_uc001wyi.2_Splice_Site_p.V633_splice|NIN_uc001wyj.2_Splice_Site|NIN_uc001wyk.2_Splice_Site_p.V633_splice|NIN_uc010tqp.1_Splice_Site_p.V639_splice|NIN_uc001wyo.2_Splice_Site_p.V633_splice NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) AATGGCGCACCTGAAGGCACA 0.453 T PDGFRB MPD SIX4 51804 broad.mit.edu 37 14 61180418 61180418 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr14:61180418G>C uc001xfc.2 - 3 2053 c.2053C>G c.(2053-2055)CTT>GTT p.L685V NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 685 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATTTCCCCAAGGGCAGCCTGA 0.473 YY1 7528 broad.mit.edu 37 14 100705804 100705804 + Missense_Mutation SNP C G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr14:100705804C>G uc001ygy.1 + 1 703 c.223C>G c.(223-225)CAT>GAT p.H75D NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 75 Poly-His. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) ccaccaccaccatcaccacca 0.313 BAHD1 22893 broad.mit.edu 37 15 40751318 40751318 + Missense_Mutation SNP C T T rs143744499 TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr15:40751318C>T uc001zlu.2 + 2 726 c.655C>T c.(655-657)CGG>TGG p.R219W BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 219 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GAGCCAGGAGCGGGAGCTACC 0.642 VPS13C 54832 broad.mit.edu 37 15 62300907 62300907 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr15:62300907C>T uc002agz.2 - 14 1139 c.1065G>A c.(1063-1065)GCG>GCA p.A355A VPS13C_uc002aha.2_Silent_p.A312A|VPS13C_uc002ahb.1_Silent_p.A355A|VPS13C_uc002ahc.1_Silent_p.A312A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 355 protein localization ovary(2) 2 TCCTATAAGGCGCATTCCTAA 0.274 THSD4 79875 broad.mit.edu 37 15 72037463 72037463 + Missense_Mutation SNP T C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr15:72037463T>C uc002atb.1 + 11 2004 c.1925T>C c.(1924-1926)TTC>TCC p.F642S THSD4_uc002ate.2_Missense_Mutation_p.F282S NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 642 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TACCCTATTTTCCGCTGTGTG 0.547 LRRK1 79705 broad.mit.edu 37 15 101569415 101569415 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr15:101569415G>A uc002bwr.2 + 20 3260 c.2941G>A c.(2941-2943)GCC>ACC p.A981T LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 981 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTTTGAGATCGCCCTGCCCGT 0.592 Unknown 0 broad.mit.edu 37 15 102292762 102292762 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr15:102292762C>T uc010usj.1 + 4 409 c.350C>T c.(349-351)GCG>GTG p.A117V uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; GCAGGCACAGCGGCGCGACGA 0.602 SRL 6345 broad.mit.edu 37 16 4245578 4245578 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr16:4245578C>T uc002cvz.3 - 5 599 c.586G>A c.(586-588)GAG>AAG p.E196K SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 655 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 TTGCGGTTCTCGATGATGCCT 0.378 CETP 1071 broad.mit.edu 37 16 57016107 57016107 + Nonsense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr16:57016107C>T uc002eki.2 + 14 1336 c.1279C>T c.(1279-1281)CAG>TAG p.Q427* CETP_uc002ekj.2_Nonsense_Mutation_p.Q367* NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 427 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 GAGCTTCCTGCAGTCAATGAT 0.582 GALNS 2588 broad.mit.edu 37 16 88891241 88891241 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr16:88891241C>T uc002fly.3 - 11 1265 c.1176G>A c.(1174-1176)GCG>GCA p.A392A GALNS_uc002flx.2_5'Flank|GALNS_uc010cid.2_Silent_p.A398A|GALNS_uc002flz.3_Silent_p.A75A NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 392 A -> V (in MPS4A). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CGAGGGTGGCCGCCATCAGCG 0.627 DNAH2 146754 broad.mit.edu 37 17 7644166 7644166 + Frame_Shift_Del DEL C - - TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr17:7644166delC uc002giu.1 + 10 1559 c.1545delC c.(1543-1545)CTCfs p.L515fs DNAH2_uc002git.2_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.L515fs NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 515 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGTGGATCTCTACATGCTGT 0.587 Unknown 0 broad.mit.edu 37 17 16734509 16734509 + Silent SNP G T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr17:16734509G>T uc010vwr.1 - 4 952 c.510C>A c.(508-510)CGC>CGA p.R170R SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16; CGTACTGGTTGCGCATCTCAT 0.607 CRLF3 51379 broad.mit.edu 37 17 29119557 29119557 + Missense_Mutation SNP C G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr17:29119557C>G uc002hfr.3 - 6 969 c.860G>C c.(859-861)AGC>ACC p.S287T CRLF3_uc010wbr.1_Missense_Mutation_p.S171T NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 287 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) TCTTCGACTGCTCAGACTGTA 0.423 TMEM106A 113277 broad.mit.edu 37 17 41365143 41365143 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr17:41365143G>A uc002idn.1 + 3 320 c.83G>A c.(82-84)AGC>AAC p.S28N TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N NM_145041 NP_659478 Q96A25 T106A_HUMAN transmembrane protein 106A 28 integral to membrane 0 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) GCCATTGGCAGCAAGGCTGTC 0.547 CSH2 1443 broad.mit.edu 37 17 61949661 61949661 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr17:61949661C>T uc002jch.2 - 5 594 c.479G>A c.(478-480)CGG>CAG p.R160Q CSH2_uc002jcg.2_Missense_Mutation_p.R65Q|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.G159R|CSH2_uc002jck.2_Missense_Mutation_p.R160Q NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 160 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 CTGCCCAGTCCGGCGGCTGCC 0.547 TXNDC2 84203 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr18:9887074G>A uc002koi.3 + 2 1047 c.598G>A c.(598-600)GAA>AAA p.E200K TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E133K NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GTCCTCAGAAGAAGCCATCCA 0.577 PDE4A 5141 broad.mit.edu 37 19 10561526 10561526 + Frame_Shift_Del DEL C - - TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr19:10561526delC uc002moj.2 + 6 800 c.692delC c.(691-693)GCCfs p.A231fs PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 231 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CAGCAGTTGGCCCGGGAGACT 0.612 FAM129C 199786 broad.mit.edu 37 19 17653014 17653014 + Missense_Mutation SNP A G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr19:17653014A>G uc010xpr.1 + 11 1471 c.1333A>G c.(1333-1335)AGC>GGC p.S445G FAM129C_uc010xpq.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.3_Missense_Mutation_p.S171G|FAM129C_uc010xpu.1_Missense_Mutation_p.S171G|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.S171G|FAM129C_uc002nhb.2_Missense_Mutation_p.S44G NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 445 0 GGCCGAGCGGAGCCGGGGGCG 0.612 ZNF208 7757 broad.mit.edu 37 19 22155056 22155056 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr19:22155056C>T uc002nqp.2 - 5 2629 c.2480G>A c.(2479-2481)AGC>AAC p.S827N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGACAACCAGCTGAAGGCTTT 0.393 ZNF180 7733 broad.mit.edu 37 19 44981361 44981361 + Missense_Mutation SNP A C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr19:44981361A>C uc002ozf.3 - 5 1619 c.1337T>G c.(1336-1338)TTC>TGC p.F446C ZNF180_uc002ozh.3_Missense_Mutation_p.F103C|ZNF180_uc002ozi.3_Missense_Mutation_p.F419C|ZNF180_uc002ozg.3_Missense_Mutation_p.F445C|ZNF180_uc010ejm.2_Missense_Mutation_p.F421C NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 446 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GCTCTGCCTGAATGACTTTCC 0.393 SH3RF3 344558 broad.mit.edu 37 2 110015136 110015136 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr2:110015136G>A uc010ywt.1 + 4 1036 c.1036G>A c.(1036-1038)GGC>AGC p.G346S NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 346 zinc ion binding ovary(1) 1 CTCTGACTCCGGCGCTGTGGC 0.602 TMEM163 81615 broad.mit.edu 37 2 135470799 135470799 + Missense_Mutation SNP A G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr2:135470799A>G uc002ttx.2 - 2 359 c.293T>C c.(292-294)GTC>GCC p.V98A TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 98 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) GGCCAGGGTGACAATGATGGA 0.517 TMC2 117532 broad.mit.edu 37 20 2616589 2616589 + Missense_Mutation SNP T A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr20:2616589T>A uc002wgf.1 + 18 2339 c.2324T>A c.(2323-2325)CTG>CAG p.L775Q TMC2_uc002wgg.1_Missense_Mutation_p.L759Q NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 775 Cytoplasmic (Potential). integral to membrane ovary(3) 3 ATTTACTACCTGAACTCAGTT 0.502 PLTP 5360 broad.mit.edu 37 20 44528299 44528299 + Missense_Mutation SNP T C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr20:44528299T>C uc002xqn.1 - 14 1324 c.1244A>G c.(1243-1245)AAG>AGG p.K415R PLTP_uc002xql.1_Missense_Mutation_p.K327R|PLTP_uc002xqm.1_Missense_Mutation_p.K435R|PLTP_uc002xqo.1_Missense_Mutation_p.K363R|PLTP_uc002xqp.1_Missense_Mutation_p.K410R|PLTP_uc002xqq.1_Missense_Mutation_p.K384R|PLTP_uc010zxj.1_Missense_Mutation_p.K320R|PLTP_uc010ghj.1_Intron NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 415 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAGCATGGTCTTCAGAGGGGC 0.602 ZGPAT 84619 broad.mit.edu 37 20 62367145 62367145 + Silent SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr20:62367145G>A uc002ygk.2 + 7 1648 c.1470G>A c.(1468-1470)GCG>GCA p.A490A ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc010gkk.1_Silent_p.A47A|ZGPAT_uc010gkl.1_Silent_p.A470A|ZGPAT_uc002ygm.2_Silent_p.A461A|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'UTR|LIME1_uc002ygp.3_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 490 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) ATAGCGTGGCGTCAGCCCAGC 0.692 C21orf128 150147 broad.mit.edu 37 21 43523936 43523936 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr21:43523936G>C uc002zak.2 - 2 449 c.297C>G c.(295-297)TTC>TTG p.F99L UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc010gow.1_Intron|UMODL1_uc002zai.1_Intron|UMODL1_uc010gox.1_Intron|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Intron|UMODL1_uc010goz.1_Intron NR_027243 RecName: Full=Uncharacterized protein C21orf128; 0 TAATGGTCGTGAAGACGTTGA 0.532 UMODL1 89766 broad.mit.edu 37 21 43524008 43524008 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr21:43524008G>C uc002zaf.1 + 9 1330 c.1330G>C c.(1330-1332)GAC>CAC p.D444H UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zag.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 444 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AGTGGTGTCTGACTTGTACCG 0.567 UMODL1 89766 broad.mit.edu 37 21 43524114 43524114 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr21:43524114G>C uc002zaf.1 + 9 1436 c.1436G>C c.(1435-1437)GGC>GCC p.G479A UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zag.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 479 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TTTCCCATGGGCATCTCCACG 0.622 TRPM2 7226 broad.mit.edu 37 21 45817635 45817635 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr21:45817635G>C uc002zet.1 + 14 2151 c.1938G>C c.(1936-1938)CAG>CAC p.Q646H TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc010gpt.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 646 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCCAGAGCCAGGACTGCATCG 0.627 PROS1 5627 broad.mit.edu 37 3 93646100 93646100 + Silent SNP C T T rs6121 by1000genomes TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr3:93646100C>T uc003drb.3 - 2 569 c.228G>A c.(226-228)CCG>CCA p.P76P PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 76 Gla. P -> L. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTACCGTTTCCGGGTCATTTT 0.388 PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG - - TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr3:169896635_169896637delTGG uc010hws.1 - 2 132_134 c.68_70delCCA c.(67-72)ACCATC>ATC p.T23del PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.424 TNIK 23043 broad.mit.edu 37 3 170819385 170819385 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr3:170819385C>T uc003fhh.2 - 22 2789 c.2444G>A c.(2443-2445)CGG>CAG p.R815Q TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 815 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTCTTCAATCCGGAGTTCTCT 0.453 LGI2 55203 broad.mit.edu 37 4 25032262 25032264 + In_Frame_Del DEL CAG - - TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr4:25032262_25032264delCAG uc003grf.2 - 1 151_153 c.52_54delCTG c.(52-54)CTGdel p.L18del NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 18 extracellular region 0 Breast(46;0.173) ACGCGGCGCCCAGCAGCAGCAGC 0.547 ARAP2 116984 broad.mit.edu 37 4 36085016 36085016 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr4:36085016C>T uc003gsq.1 - 29 4820 c.4482G>A c.(4480-4482)GTG>GTA p.V1494V NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1494 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TTTTCTTTTTCACTCCACGAT 0.313 FRAS1 80144 broad.mit.edu 37 4 79204019 79204019 + Nonsense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr4:79204019C>T uc003hlb.2 + 12 1593 c.1153C>T c.(1153-1155)CGA>TGA p.R385* FRAS1_uc003hkw.2_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.R89* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 385 VWFC 6.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTGTGAGTGCCGAGGGGCTCA 0.537 HPGD 3248 broad.mit.edu 37 4 175439163 175439163 + Missense_Mutation SNP T A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr4:175439163T>A uc003itu.2 - 3 473 c.283A>T c.(283-285)AAT>TAT p.N95Y HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irp.2_5'UTR|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR|HPGD_uc003itw.2_Missense_Mutation_p.N95Y|HPGD_uc003itx.2_Missense_Mutation_p.N95Y NM_000860 NP_000851 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 95 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity 0 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) TTCTCATTATTCACTCCAGCA 0.279 PLCXD3 345557 broad.mit.edu 37 5 41382349 41382349 + Missense_Mutation SNP A G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr5:41382349A>G uc003jmm.1 - 2 493 c.391T>C c.(391-393)TTC>CTC p.F131L NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 131 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TCTGTGAGGAATGCATTGATC 0.433 ATXN1 6310 broad.mit.edu 37 6 16327903 16327903 + Missense_Mutation SNP C A A rs3817753 TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr6:16327903C>A uc003nbt.2 - 8 1610 c.639G>T c.(637-639)CAG>CAT p.Q213H ATXN1_uc010jpi.2_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 213 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgatgct 0.378 RSPO3 84870 broad.mit.edu 37 6 127469958 127469958 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr6:127469958G>A uc003qar.2 + 2 553 c.263G>A c.(262-264)CGA>CAA p.R88Q RSPO3_uc003qas.1_Missense_Mutation_p.R88Q NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 88 extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) TATGGAACTCGATATCCAGAT 0.363 ZBTB2 57621 broad.mit.edu 37 6 151687542 151687542 + Missense_Mutation SNP G T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr6:151687542G>T uc003qoh.2 - 3 794 c.659C>A c.(658-660)ACC>AAC p.T220N NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TTCCAGATTGGTCTCCTCCCC 0.552 MACC1 346389 broad.mit.edu 37 7 20180649 20180649 + Nonsense_Mutation SNP C A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr7:20180649C>A uc003sus.3 - 7 2788 c.2479G>T c.(2479-2481)GAA>TAA p.E827* MACC1_uc010kug.2_Nonsense_Mutation_p.E827* NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 827 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CCAGTTAATTCTCTCCAGTGT 0.383 EGFR 1956 broad.mit.edu 37 7 55221763 55221763 + Silent SNP C G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr7:55221763C>G uc003tqk.2 + 7 1053 c.807C>G c.(805-807)CTC>CTG p.L269L EGFR_uc003tqh.2_Silent_p.L269L|EGFR_uc003tqi.2_Silent_p.L269L|EGFR_uc003tqj.2_Silent_p.L269L|EGFR_uc010kzg.1_Silent_p.L224L|EGFR_uc011kco.1_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 269 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CACTCATGCTCTACAACCCCA 0.577 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EPHA1 2041 broad.mit.edu 37 7 143097029 143097029 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr7:143097029C>T uc003wcz.2 - 4 637 c.550G>A c.(550-552)GCT>ACT p.A184T NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 184 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TTGTGGAAAGCGAGGTAGAGG 0.617 MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG - - rs61752959 byFrequency TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr8:128750605_128750607delCAG uc003ysh.1 + 3 610_612 c.97_99delCAG c.(97-99)CAGdel p.Q37del MYC_uc003ysi.2_In_Frame_Del_p.Q52del NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 37 Poly-Gln. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BNC2 54796 broad.mit.edu 37 9 16437497 16437497 + Missense_Mutation SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr9:16437497C>T uc003zml.2 - 6 835 c.695G>A c.(694-696)CGC>CAC p.R232H BNC2_uc011lmw.1_Missense_Mutation_p.R137H|BNC2_uc003zmm.2_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.1_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.2_5'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_5'UTR|BNC2_uc003zmn.1_5'UTR NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GATGGCCCAGCGGTCCAGCAC 0.448 NOL8 55035 broad.mit.edu 37 9 95078415 95078415 + Missense_Mutation SNP G C C TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr9:95078415G>C uc004arv.2 - 7 829 c.492C>G c.(490-492)ATC>ATG p.I164M NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.I96M NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 164 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 GATCATATTTGATGATGTTAC 0.338 KIAA0368 23392 broad.mit.edu 37 9 114145511 114145511 + Silent SNP C T T TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chr9:114145511C>T uc004bfe.1 - 36 4317 c.4317G>A c.(4315-4317)GTG>GTA p.V1439V NM_001080398 NP_001073867 KIAA0368 protein 0 GAACTTCCGTCACGGTGCTCA 0.483 PHEX 5251 broad.mit.edu 37 X 22132590 22132590 + Silent SNP C G G TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chrX:22132590C>G uc004dah.2 + 11 1391 c.1188C>G c.(1186-1188)ACC>ACG p.T396T PHEX_uc011mjr.1_Silent_p.T396T|PHEX_uc011mjs.1_Silent_p.T299T NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 396 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TCCAGGGGACCACAACTTTGC 0.398 DCAF8L1 139425 broad.mit.edu 37 X 27999308 27999308 + Silent SNP G A A rs147579544 byFrequency TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chrX:27999308G>A uc004dbx.1 - 1 259 c.144C>T c.(142-144)ACC>ACT p.T48T NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 48 ovary(3)|skin(1) 4 CACCATCTCCGGTCGATGGCT 0.532 MAGEB16 139604 broad.mit.edu 37 X 35821053 35821053 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chrX:35821053G>A uc010ngt.1 + 2 1019 c.740G>A c.(739-741)AGA>AAA p.R247K NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 247 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GGAGAGCCCAGAATGCTCATC 0.493 GPR82 27197 broad.mit.edu 37 X 41587247 41587247 + Missense_Mutation SNP T G G rs144887525 TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chrX:41587247T>G uc004dfs.1 + 3 1208 c.968T>G c.(967-969)CTC>CGC p.L323R CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.L323R|GPR82_uc004dfu.1_RNA NM_080817 NP_543007 Q96P67 GPR82_HUMAN G protein-coupled receptor 82 323 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CTATATAATCTCTTTACAAAG 0.333 MAGIX 79917 broad.mit.edu 37 X 49021421 49021421 + Missense_Mutation SNP G A A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45ca8f53-6d0e-4659-a81f-258184b7a70e 244e9dd6-f856-48eb-8288-66cad9fd3ea2 g.chrX:49021421G>A uc010nin.1 + 4 547 c.500G>A c.(499-501)CGT>CAT p.R167H MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 167 PDZ. 0 CGCTGTGGTCGTTTGGAGGTG 0.622