Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample AGRN 375790 broad.mit.edu 37 1 957650 957650 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:957650A>G uc001ack.1 + 2 321 c.271A>G c.(271-273)AAG>GAG p.K91E NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 91 NtA. 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) CGGCGGCAACAAGGTGGTGAT 0.602 NaN 0 0 0 0.235728 0 37 78 GJB4 127534 broad.mit.edu 37 1 35227230 35227230 + Silent SNP C C T rs147830069 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:35227230C>T uc001bxv.1 + 2 745 c.375C>T c.(373-375)GGC>GGT p.G125G GJB4_uc001bxw.3_Silent_p.G125G NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 125 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGAAGCGGGGCGGACTGTGGT 0.592 NaN 0 0 0 0.132662 0 14 28 OXCT2 64064 broad.mit.edu 37 1 40236123 40236123 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:40236123C>T uc001ceb.1 - 1 898 c.805G>A c.(805-807)GTG>ATG p.V269M BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.V263M NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 precursor 269 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity pancreas(1) 1 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) CCCTTTATCACGCGATCTACA 0.532 NaN OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.234183 0 22 107 PRPF38B 55119 broad.mit.edu 37 1 109242068 109242068 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:109242068G>A uc001dvv.3 + 6 1349 c.1067G>A c.(1066-1068)AGA>AAA p.R356K PRPF38B_uc001dvw.3_Missense_Mutation_p.R245K|PRPF38B_uc010ouz.1_Missense_Mutation_p.R159K NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 356 Arg-rich. mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) gatcgagaaagagagaaagaa 0.219 NaN 0 0 0 0.038147 0 8 26 RSBN1 54665 broad.mit.edu 37 1 114340631 114340631 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:114340631T>C uc001edq.2 - 2 767 c.731A>G c.(730-732)CAG>CGG p.Q244R RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 244 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCGGCTCTCTGGGTTTTACC 0.358 NaN 0 0 0 0.11126 0 44 71 ADAM30 11085 broad.mit.edu 37 1 120438648 120438648 + Silent SNP A A T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:120438648A>T uc001eij.2 - 1 466 c.312T>A c.(310-312)CCT>CCA p.P104P NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 104 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.P104L(1) ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTGGTATGTAAGGATGATCCT 0.502 NaN 0 0 0 0.153744 0 33 35 PDE4DIP 9659 broad.mit.edu 37 1 144922560 144922560 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:144922560T>C uc001elw.3 - 7 1138 c.847A>G c.(847-849)ATT>GTT p.I283V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I349V|PDE4DIP_uc001emc.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emd.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emb.1_Missense_Mutation_p.I446V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.I70V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 283 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGTTCTGAATTGTACCATCT 0.388 NaN T PDGFRB MPD 0 0 0 0.139131 0 48 383 S100A5 6276 broad.mit.edu 37 1 153509783 153509783 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:153509783C>T uc001fbx.2 - 4 550 c.322G>A c.(322-324)GAC>AAC p.D108N S100A6_uc001fbw.1_5'Flank NM_002962 NP_002953 P33763 S10A5_HUMAN S100 calcium binding protein A5 90 nucleus calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding 0 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CACTTGTTGTCCTCTAGAAAG 0.582 NaN 0 0 0 0.134883 0 31 33 ATF6 22926 broad.mit.edu 37 1 161771931 161771931 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:161771931G>A uc001gbr.2 + 7 845 c.778G>A c.(778-780)GGG>AGG p.G260R ATF6_uc001gbq.1_Missense_Mutation_p.G260R NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 260 Cytoplasmic (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TGCTGTTGCTGGGGGAGTCAC 0.532 NaN 0 0 0 0.108266 0 23 71 VAMP4 8674 broad.mit.edu 37 1 171707494 171707494 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:171707494C>T uc001ghx.1 - 2 275 c.61G>A c.(61-63)GAA>AAA p.E21K VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.E21K NM_003762 NP_003753 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 21 Cytoplasmic (Potential). vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome 0 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTTACCCTTTCACTTTTCACA 0.318 NaN 0 0 0 0.038147 0 6 27 LOC642587 642587 broad.mit.edu 37 1 209602671 209602671 + Missense_Mutation SNP A A T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:209602671A>T uc009xcn.2 + 2 412 c.29A>T c.(28-30)CAA>CTA p.Q10L LOC642587_uc010psk.1_5'Flank|MIR205_hsa-mir-205|MI0000285_5'Flank NM_001104548 NP_001098018 hypothetical protein LOC642587 0 OV - Ovarian serous cystadenocarcinoma(81;0.0422) GAGAGAAATCAACTATTCAGG 0.284 NaN 0 0 0 0.115264 0 2 4 DISP1 84976 broad.mit.edu 37 1 223116445 223116445 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:223116445C>T uc001hnu.1 + 2 427 c.280C>T c.(280-282)CAT>TAT p.H94Y NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 94 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TTTGACTAGCCATAGCAGTCA 0.532 NaN 0 0 0 0.144211 0 29 94 LYST 1130 broad.mit.edu 37 1 235884187 235884187 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:235884187G>C uc001hxj.2 - 40 9509 c.9334C>G c.(9334-9336)CAC>GAC p.H3112D LYST_uc001hxi.2_Missense_Mutation_p.H336D NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3112 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGTATATTGTGGTATACATCA 0.338 NaN Chediak-Higashi_syndrome 0 0 0 0.219247 0 21 91 AHCTF1 25909 broad.mit.edu 37 1 247025300 247025300 + Silent SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:247025300T>A uc001ibu.1 - 27 3703 c.3696A>T c.(3694-3696)TCA>TCT p.S1232S AHCTF1_uc001ibv.1_Silent_p.S1241S|AHCTF1_uc009xgs.1_Silent_p.S93S|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1232 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTTCCACAAATGAAATTCTAG 0.398 NaN 0 0 0 0.234183 0 21 21 ARMC3 219681 broad.mit.edu 37 10 23326230 23326230 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:23326230C>G uc001irm.3 + 19 2524 c.2441C>G c.(2440-2442)TCC>TGC p.S814C ARMC3_uc010qcv.1_Missense_Mutation_p.S807C|ARMC3_uc010qcw.1_Missense_Mutation_p.S551C NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 814 binding 0 ATTGGTTGCTCCCTAGTTCGC 0.532 NaN 0 0 0 0.116897 0 26 59 BAMBI 25805 broad.mit.edu 37 10 28970934 28970934 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:28970934T>A uc001iuj.1 + 3 790 c.387T>A c.(385-387)CAT>CAA p.H129Q BAMBI_uc001iui.2_3'UTR NM_012342 NP_036474 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 129 Extracellular (Potential). cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(4) 4 GGTATCAGCATGATGGTAGCA 0.453 NaN 0 0 0 0.214465 0 38 67 ZNF37A 7587 broad.mit.edu 37 10 38407014 38407014 + Nonsense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:38407014C>G uc001izk.2 + 8 1754 c.935C>G c.(934-936)TCA>TGA p.S312* ZNF37A_uc001izl.2_Nonsense_Mutation_p.S312*|ZNF37A_uc001izm.2_Nonsense_Mutation_p.S312* NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 312 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TATAAGAATTCAGACCTCATT 0.423 NaN 0 0 0 0.193644 0 36 76 MYOZ1 58529 broad.mit.edu 37 10 75391746 75391746 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:75391746G>A uc001jur.2 - 6 1207 c.842C>T c.(841-843)CCT>CTT p.P281L NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 281 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) GTAGTCTACAGGCTCCCCAGA 0.532 NaN 0 0 0 0.204396 0 21 32 RNLS 55328 broad.mit.edu 37 10 90034726 90034726 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:90034726G>A uc001kfd.2 - 7 1075 c.940C>T c.(940-942)CCC>TCC p.P314S RNLS_uc010qms.1_Missense_Mutation_p.P231S NM_018363 NP_060833 Q5VYX0 RNLS_HUMAN renalase isoform 2 Error:Variant_position_missing_in_Q5VYX0_after_alignment extracellular region oxidoreductase activity ovary(1) 1 AGTCAGATGGGAAATCCAATC 0.348 NaN 0 0 0 0.069234 0 10 40 SORBS1 10580 broad.mit.edu 37 10 97141472 97141472 + Silent SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:97141472G>T uc001kkp.2 - 16 1668 c.1623C>A c.(1621-1623)GGC>GGA p.G541G SORBS1_uc001kkk.2_Silent_p.G119G|SORBS1_uc001kkl.2_Silent_p.G143G|SORBS1_uc001kkn.2_Silent_p.G328G|SORBS1_uc001kkm.2_Silent_p.G397G|SORBS1_uc001kko.2_Silent_p.G563G|SORBS1_uc001kkq.2_Silent_p.G426G|SORBS1_uc001kkr.2_Silent_p.G331G|SORBS1_uc001kks.2_Silent_p.G331G|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.G372G|SORBS1_uc001kkv.2_Silent_p.G463G|SORBS1_uc001kkw.2_Silent_p.G495G|SORBS1_uc010qoe.1_Silent_p.G340G|SORBS1_uc010qof.1_Silent_p.G693G NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 541 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CGGAAGACTTGCCAGGCTGAT 0.403 NaN 1 0 2.32078e-09 0.132662 2.50046e-09 14 79 PPRC1 23082 broad.mit.edu 37 10 103907098 103907098 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:103907098C>T uc001kum.2 + 9 4388 c.4349C>T c.(4348-4350)TCA>TTA p.S1450L PPRC1_uc001kun.2_Missense_Mutation_p.S1330L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1450 Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TCGTCTTCCTCATCCCGATCT 0.597 NaN 0 0 0 0.193644 0 34 22 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:533875G>T uc001lpv.2 - 3 369 c.181C>A c.(181-183)CAG>AAG p.Q61K HRAS_uc010qvw.1_Missense_Mutation_p.Q61K|HRAS_uc010qvx.1_Missense_Mutation_p.Q61K|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(112)|p.Q61L(91)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 1 0 5.20837e-25 0.268233 5.91699e-25 41 42 BRSK2 9024 broad.mit.edu 37 11 1463777 1463777 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:1463777C>T uc001lti.2 + 5 857 c.471C>T c.(469-471)ATC>ATT p.I157I BRSK2_uc009ycv.1_Silent_p.I157I|BRSK2_uc001lth.1_Silent_p.I157I|BRSK2_uc001ltj.2_Silent_p.I157I|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.I157I|BRSK2_uc001ltm.2_Silent_p.I203I|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 157 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) ACATCCGCATCGCAGACTTTG 0.622 NaN 0 0 0 0.204396 0 19 9 OR56B4 196335 broad.mit.edu 37 11 6129922 6129922 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:6129922T>A uc010qzx.1 + 1 914 c.914T>A c.(913-915)CTG>CAG p.L305Q NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAACTCAGACTGGGCTTTCAG 0.488 NaN 0 0 0 0.139131 0 57 51 PC 5091 broad.mit.edu 37 11 66636412 66636412 + Silent SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:66636412G>C uc001ojn.1 - 8 976 c.927C>G c.(925-927)ACC>ACG p.T309T PC_uc001ojo.1_Silent_p.T309T|PC_uc001ojp.1_Silent_p.T309T NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 309 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGAACTCCACGGTGCCTGCGT 0.637 NaN 0 0 0 0.219247 0 17 49 KBTBD3 143879 broad.mit.edu 37 11 105923955 105923955 + Silent SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:105923955A>G uc001pja.2 - 4 2101 c.1461T>C c.(1459-1461)TCT>TCC p.S487S KBTBD3_uc001pjb.2_Silent_p.S487S|KBTBD3_uc009yxm.2_Silent_p.S408S NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 483 Kelch 4. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTACTAGTTCAGACCACTGAT 0.348 NaN 0 0 0 0.204396 0 21 8 ATM 472 broad.mit.edu 37 11 108115703 108115703 + Missense_Mutation SNP A A C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 A C A A Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:108115703A>C uc001pkb.1 + 7 1236 c.851A>C c.(850-852)CAA>CCA p.Q284P ATM_uc009yxr.1_Missense_Mutation_p.Q284P NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 284 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTATTTCAACTGCAAATT 0.308 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.234183 0 22 20 LRTM2 654429 broad.mit.edu 37 12 1940432 1940432 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:1940432G>A uc001qjt.2 + 4 1205 c.399G>A c.(397-399)AGG>AGA p.R133R CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.R133R|LRTM2_uc010sdx.1_Silent_p.R133R|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 133 Extracellular (Potential).|LRR 3. integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCCTGGACAGGGACCTGCTGC 0.637 NaN OREG0005740 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 0 0 0 0.09319 0 12 61 KCNA1 3736 broad.mit.edu 37 12 5020962 5020962 + Nonsense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:5020962G>T uc001qnh.2 + 2 1523 c.418G>T c.(418-420)GAG>TAG p.E140* NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 140 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCAAGGAGGAGGAGCGCCC 0.627 NaN 1 0 7.05477e-17 0.160694 7.90702e-17 18 45 PIK3C2G 5288 broad.mit.edu 37 12 18644430 18644430 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:18644430G>A uc001rdt.2 + 19 2724 c.2608G>A c.(2608-2610)GAT>AAT p.D870N PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D911N|PIK3C2G_uc010sic.1_Missense_Mutation_p.D689N NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 870 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GTTCTTTCAAGATGTAAATAC 0.333 NaN 0 0 0 0.11911 0 12 59 COL2A1 1280 broad.mit.edu 37 12 48375154 48375154 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:48375154G>A uc001rqu.2 - 37 2616 c.2435C>T c.(2434-2436)GCA>GTA p.A812V COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A743V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 812 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGCACTTCCTGCAGGACCAGG 0.637 NaN 0 0 0 0.184627 0 4 9 RARG 5916 broad.mit.edu 37 12 53607337 53607337 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:53607337G>C uc001sce.2 - 8 1446 c.961C>G c.(961-963)CTG>GTG p.L321V RARG_uc001scd.2_Missense_Mutation_p.L310V|RARG_uc010sob.1_Missense_Mutation_p.L299V|RARG_uc001scf.2_Missense_Mutation_p.L321V|RARG_uc001scg.2_Missense_Mutation_p.L249V|RARG_uc010soc.1_Missense_Mutation_p.L200V|RARG_uc010sod.1_Missense_Mutation_p.L358V NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 321 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCATCTCCAGGGGCAGGAGC 0.652 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.09319 0 13 29 LTA4H 4048 broad.mit.edu 37 12 96394858 96394858 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:96394858T>C uc001ten.1 - 19 1813 c.1745A>G c.(1744-1746)CAT>CGT p.H582R LTA4H_uc010suy.1_Missense_Mutation_p.H544R|LTA4H_uc010suz.1_3'UTR NM_000895 NP_000886 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 582 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1) 1 AGCTTGATCATGGGATTTGTC 0.363 NaN 0 0 0 0.058154 0 9 50 B3GNT4 79369 broad.mit.edu 37 12 122689184 122689184 + Missense_Mutation SNP T T G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:122689184T>G uc001ubx.2 + 2 237 c.19T>G c.(19-21)TCC>GCC p.S7A B3GNT4_uc001uby.2_Intron NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal 7 Cytoplasmic (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCCCCAGCCTTCCGCAGCCCA 0.537 NaN 0 0 0 0.038147 0 7 26 GPR133 283383 broad.mit.edu 37 12 131476886 131476886 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:131476886C>T uc001uit.3 + 8 1474 c.915C>T c.(913-915)CTC>CTT p.L305L GPR133_uc010tbm.1_Silent_p.L337L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 305 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ATGTATCCCTCAGCTTACCCA 0.502 NaN 0 0 0 0.116897 0 30 86 MIPEP 4285 broad.mit.edu 37 13 24304530 24304530 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:24304530T>C uc001uox.3 - 19 2199 c.2099A>G c.(2098-2100)GAC>GGC p.D700G NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 700 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) CAGATCCAAGTCGGAAACGAG 0.413 NaN 0 0 0 0.219247 0 21 11 BRCA2 675 broad.mit.edu 37 13 32900694 32900694 + Missense_Mutation SNP T T C rs80358805 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:32900694T>C uc001uub.1 + 7 802 c.575T>C c.(574-576)ATG>ACG p.M192T BRCA2_uc001uua.1_Missense_Mutation_p.M69T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 192 M -> T (in one patient with pancreatic cancer). cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GATCCTGATATGTCTTGGTCA 0.393 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.139131 0 45 37 LPAR6 10161 broad.mit.edu 37 13 48985612 48985612 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:48985612G>A uc010acu.2 - 1 2042 c.948C>T c.(946-948)TTC>TTT p.F316F RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 316 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 GAACTTCAGAGAATCTGAAGT 0.338 NaN 0 0 0 0.26419 0 24 87 MLNR 2862 broad.mit.edu 37 13 49795318 49795318 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:49795318G>A uc010tgj.1 + 1 845 c.845G>A c.(844-846)CGA>CAA p.R282Q NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 282 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CGGCCGCTGCGAGGCCCGGCC 0.701 NaN 0 0 0 0.204396 0 20 4 MYCBP2 23077 broad.mit.edu 37 13 77750673 77750673 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:77750673C>T uc001vkf.2 - 37 5408 c.5317G>A c.(5317-5319)GAT>AAT p.D1773N MYCBP2_uc010aev.2_Missense_Mutation_p.D1177N NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1773 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCAGCTATATCACTGGGTGAG 0.363 NaN 0 0 0 0.248553 0 6 24 FAM70B 348013 broad.mit.edu 37 13 114514838 114514838 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:114514838T>C uc001vuh.2 + 9 970 c.943T>C c.(943-945)TTT>CTT p.F315L NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 315 Pro-rich. integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) ACCCACCTACTTTCCCCCGGG 0.567 NaN 0 0 0 0.204396 0 18 75 TC2N 123036 broad.mit.edu 37 14 92278710 92278710 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:92278710A>G uc001xzu.3 - 3 438 c.247T>C c.(247-249)TCT>CCT p.S83P TC2N_uc001xzt.3_Missense_Mutation_p.S83P|TC2N_uc010auc.2_Missense_Mutation_p.S83P|TC2N_uc001xzv.3_Missense_Mutation_p.S83P NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 83 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) TGAATGTAAGATAACTTAAAC 0.363 NaN 0 0 0 0.11911 0 14 19 CDC42BPB 9578 broad.mit.edu 37 14 103440459 103440459 + Missense_Mutation SNP T T G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:103440459T>G uc001ymi.1 - 12 1767 c.1535A>C c.(1534-1536)GAG>GCG p.E512A NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 512 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CACTGTGTCCTCAAGCTGTCG 0.532 NaN 0 0 0 0.09319 0 12 36 TDRD9 122402 broad.mit.edu 37 14 104471727 104471727 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:104471727C>T uc001yom.3 + 15 1728 c.1698C>T c.(1696-1698)ATC>ATT p.I566I TDRD9_uc001yon.3_Silent_p.I304I NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 566 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) AGCGCACCATCCTTCTACTAA 0.532 NaN 0 0 0 0.105934 0 14 26 MESDC2 23184 broad.mit.edu 37 15 81282111 81282111 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr15:81282111G>A uc002bfy.1 - 1 95 c.22C>T c.(22-24)CGC>TGC p.R8C MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_015154 NP_055969 Q14696 MESD_HUMAN mesoderm development candidate 2 8 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum 0 ACGGCCTTGCGCGCCCACCTG 0.647 NaN 0 0 0 0.09319 0 13 3 KIAA0430 9665 broad.mit.edu 37 16 15705592 15705592 + Splice_Site SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:15705592C>T uc002ddr.2 - 18 3668 c.3475_splice c.e18-1 p.I1159_splice KIAA0430_uc002ddq.2_Splice_Site_p.I993_splice|KIAA0430_uc010uzv.1_Splice_Site_p.I1155_splice|KIAA0430_uc010uzw.1_Splice_Site_p.I1158_splice NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 peroxisome nucleotide binding|RNA binding 0 TTCCAAGAATCTGCAAAGCAA 0.488 NaN 0 0 0 0.26419 0 24 26 SCNN1G 6340 broad.mit.edu 37 16 23224042 23224042 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:23224042G>T uc002dlm.1 + 9 1477 c.1338G>T c.(1336-1338)GAG>GAT p.E446D NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 446 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TCCAGGAAGAGCTGGGCTGCC 0.587 NaN 1 0 4.96729e-08 0.204396 5.25024e-08 18 71 ERN2 10595 broad.mit.edu 37 16 23718361 23718361 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:23718361G>T uc002dma.3 - 5 659 c.490C>A c.(490-492)CCC>ACC p.P164T ERN2_uc010bxp.2_Missense_Mutation_p.P164T|ERN2_uc010bxq.1_5'UTR NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 116 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CTGCGGCAGGGAGAGGCATGA 0.552 NaN 1 0 1.05317e-09 0.11911 1.14207e-09 13 27 TMEM208 29100 broad.mit.edu 37 16 67262275 67262275 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:67262275G>A uc002esi.2 + 3 226 c.120G>A c.(118-120)GTG>GTA p.V40V LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA NM_014187 NP_054906 Q9BTX3 TM208_HUMAN HSPC171 protein 40 Helical; (Potential). integral to membrane 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) ACTGCCTTGTGACGTTGGTCT 0.512 NaN 0 0 0 0.219247 0 20 54 ZZEF1 23140 broad.mit.edu 37 17 3936218 3936218 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:3936218G>A uc002fxe.2 - 41 6727 c.6663C>T c.(6661-6663)GTC>GTT p.V2221V ZZEF1_uc002fxh.2_Silent_p.V535V|ZZEF1_uc002fxi.2_Silent_p.V456V NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2221 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGGTGGCAATGACATCACGCC 0.587 NaN 0 0 0 0.248553 0 7 14 ENO3 2027 broad.mit.edu 37 17 4859385 4859385 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:4859385C>A uc002gab.3 + 9 1108 c.1014C>A c.(1012-1014)AAC>AAA p.N338K ENO3_uc002gac.3_Missense_Mutation_p.N338K|ENO3_uc010vss.1_Missense_Mutation_p.N295K|ENO3_uc010vst.1_Missense_Mutation_p.N165K NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 338 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 AGGCCTGCAACTGTCTGCTGC 0.597 NaN 1 0 2.4624e-09 0.204396 2.63603e-09 21 54 DNAH2 146754 broad.mit.edu 37 17 7734577 7734577 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:7734577C>T uc002giu.1 + 79 12418 c.12404C>T c.(12403-12405)TCC>TTC p.S4135F DNAH2_uc010cnm.1_Missense_Mutation_p.S1073F NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4135 TPR 5. 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) ACTTTGCTTTCCTTGCAACCT 0.572 NaN 0 0 0 0.144211 0 32 158 MYH10 4628 broad.mit.edu 37 17 8417200 8417200 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:8417200C>T uc002gll.2 - 20 2520 c.2424G>A c.(2422-2424)AAG>AAA p.K808K MYH10_uc002glm.2_Silent_p.K839K|MYH10_uc010cnx.2_Silent_p.K817K NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 808 IQ. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GCTGCTGCTTCTTGGCAAAGG 0.458 NaN 0 0 0 0.219247 0 22 16 MYH8 4626 broad.mit.edu 37 17 10298707 10298707 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:10298707T>A uc002gmm.2 - 34 4800 c.4705A>T c.(4705-4707)AAC>TAC p.N1569Y uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1569 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTGACTTGGTTTAACTCAAGC 0.393 NaN Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 0 0 0 0.234183 0 21 64 ITGA2B 3674 broad.mit.edu 37 17 42462976 42462976 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:42462976C>T uc002igt.1 - 4 549 c.517G>A c.(517-519)GAG>AAG p.E173K NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 173 Extracellular (Potential).|FG-GAP 2. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGGAGTACTCGGCGCGGCGG 0.617 NaN 0 0 0 0.217242 0 5 5 DDX5 1655 broad.mit.edu 37 17 62496243 62496243 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:62496243T>C uc002jek.2 - 13 1890 c.1643A>G c.(1642-1644)AAT>AGT p.N548S DDX5_uc010deh.2_Missense_Mutation_p.N548S|DDX5_uc002jej.2_Missense_Mutation_p.N443S|DDX5_uc010wqa.1_Missense_Mutation_p.N469S NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 548 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AGACACAAAATTACTTCCAAA 0.413 NaN T ETV4 prostate 0 0 0 0.139131 0 59 60 RAB37 326624 broad.mit.edu 37 17 72741012 72741012 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:72741012G>T uc002jlk.2 + 7 489 c.433G>T c.(433-435)GCG>TCG p.A145S RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.A138S|RAB37_uc002jld.2_Missense_Mutation_p.A138S|RAB37_uc010wrb.1_Missense_Mutation_p.A113S|RAB37_uc010wrc.1_Missense_Mutation_p.A150S|RAB37_uc010wrd.1_Missense_Mutation_p.A113S|RAB37_uc010wre.1_Missense_Mutation_p.A108S|RAB37_uc002jll.3_RNA NM_001006638 NP_001006639 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family isoform 2 145 GTP (By similarity). protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding ovary(1) 1 GGCTTGACAGGCGGATATGAG 0.617 NaN OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 8.28177e-16 0.189662 9.22037e-16 20 32 DSC1 1823 broad.mit.edu 37 18 28737511 28737511 + Silent SNP C C G rs147816863 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr18:28737511C>G uc002kwn.2 - 3 436 c.174G>C c.(172-174)TCG>TCC p.S58S DSC1_uc002kwm.2_Silent_p.S58S NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 58 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTAGGCTGGCCGACTTGAGAC 0.448 NaN 0 0 0 0.11911 0 14 43 LINGO3 645191 broad.mit.edu 37 19 2290209 2290209 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:2290209C>T uc010dsx.1 - 2 1695 c.1567G>A c.(1567-1569)GAC>AAC p.D523N SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR NM_001101391 NP_001094861 P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 523 Extracellular (Potential). integral to membrane 0 GTGGTGAGGTCGAGCGGCGCG 0.716 NaN 0 0 0 0.11911 0 14 11 KHSRP 8570 broad.mit.edu 37 19 6418059 6418059 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:6418059C>T uc002mer.3 - 10 1021 c.911G>A c.(910-912)CGG>CAG p.R304Q NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 304 Gly-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 GTCACGTTCCCGGAGGATGTC 0.642 NaN OREG0025200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.184627 0 5 21 COL5A3 50509 broad.mit.edu 37 19 10099815 10099815 + Silent SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:10099815T>C uc002mmq.1 - 27 2216 c.2130A>G c.(2128-2130)GGA>GGG p.G710G NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 710 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CTCCCCGAGGTCCAGGATAGC 0.542 NaN 0 0 0 0.125774 0 28 50 TSPAN16 26526 broad.mit.edu 37 19 11417292 11417292 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:11417292G>T uc002mqv.1 + 5 613 c.463G>T c.(463-465)GGG>TGG p.G155W TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron NM_012466 NP_036598 Q9UKR8 TSN16_HUMAN transmembrane 4 superfamily member 16 155 Cytoplasmic (Potential). integral to membrane skin(1) 1 AAAGTGCTGTGGGGTGAATAA 0.438 NaN 1 0 9.04412e-07 0.099896 9.4398e-07 25 40 NDUFA13 51079 broad.mit.edu 37 19 19646428 19646428 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:19646428C>T uc010xqy.1 + 7 1139 c.880C>T c.(880-882)CGC>TGC p.R294C YJEFN3_uc002nmt.1_Missense_Mutation_p.R212C|YJEFN3_uc010ecf.1_Missense_Mutation_p.R162C|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CCCCTGCACCCGCGCGCTGGC 0.706 NaN 0 0 0 0.115264 0 3 9 TSHZ3 57616 broad.mit.edu 37 19 31768141 31768141 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:31768141T>A uc002nsy.3 - 2 2623 c.2558A>T c.(2557-2559)AAC>ATC p.N853I NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 853 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CTCTGTCAAGTTCTTCAGCAT 0.527 NaN 0 0 0 0.249174 0 22 91 MLL4 9757 broad.mit.edu 37 19 36229445 36229445 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:36229445G>A uc010eei.2 + 38 8135 c.8135G>A c.(8134-8136)CGG>CAG p.R2712Q NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2712 Post-SET. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGCTGCCGTCGGTTCCTTAAC 0.652 NaN 0 0 0 0.248553 0 6 8 DPF1 8193 broad.mit.edu 37 19 38709576 38709576 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:38709576A>G uc002ohl.2 - 4 529 c.502T>C c.(502-504)TGT>CGT p.C168R DPF1_uc002ohm.2_Missense_Mutation_p.C168R|DPF1_uc002ohn.2_Missense_Mutation_p.C86R|DPF1_uc010xtu.1_Missense_Mutation_p.C142R|DPF1_uc010xtv.1_Missense_Mutation_p.C142R|DPF1_uc010xtw.1_Missense_Mutation_p.C142R NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 168 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCCACCTGACAGTCCATAATG 0.657 NaN 0 0 0 0.268233 0 44 61 ERCC2 2068 broad.mit.edu 37 19 45872380 45872380 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:45872380G>A uc002pbj.2 - 3 178 c.131C>T c.(130-132)TCA>TTA p.S44L ERCC2_uc010ejz.2_Missense_Mutation_p.S44L|ERCC2_uc002pbk.2_Missense_Mutation_p.S20L|ERCC2_uc002pbl.3_Missense_Mutation_p.S20L|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 44 ATP (By similarity).|Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCCGGTGCCTGAGGGCATCTC 0.587 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.204396 0 18 77 GRLF1 2909 broad.mit.edu 37 19 47422438 47422438 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:47422438G>A uc010ekv.2 + 1 506 c.506G>A c.(505-507)GGC>GAC p.G169D NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 169 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GTTAGCAGGGGCATGAATAGG 0.458 NaN 0 0 0 0.125774 0 30 37 ZNF671 79891 broad.mit.edu 37 19 58232719 58232719 + Silent SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:58232719T>C uc002qpz.3 - 4 834 c.735A>G c.(733-735)AAA>AAG p.K245K ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Silent_p.K168K|ZNF671_uc010yhf.1_Silent_p.K147K NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTCTCCTACCTTTCCCACATG 0.527 NaN 0 0 0 0.132662 0 16 44 ALLC 55821 broad.mit.edu 37 2 3750104 3750104 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:3750104G>A uc010ewt.2 + 12 1288 c.1127G>A c.(1126-1128)CGG>CAG p.R376Q ALLC_uc002qyf.2_Missense_Mutation_p.R147Q NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 395 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CTGAGGCCCCGGGAGAAGCCC 0.597 NaN HNSCC(21;0.051) 0 0 0 0.09319 0 12 27 C2orf39 92749 broad.mit.edu 37 2 26624885 26624885 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:26624885C>T uc002rhg.2 + 1 102 c.28C>T c.(28-30)CTG>TTG p.L10L C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 10 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTAGAGGCCCTGGACCCGAA 0.657 NaN 0 0 0 0.038147 0 7 19 VIT 5212 broad.mit.edu 37 2 37032673 37032673 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:37032673G>T uc002rpl.2 + 14 1476 c.1255G>T c.(1255-1257)GGC>TGC p.G419C VIT_uc002rpm.2_Missense_Mutation_p.G397C|VIT_uc010ezv.2_Missense_Mutation_p.G375C|VIT_uc010ezw.2_Missense_Mutation_p.G376C NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 404 VWFA 1. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GATGGTGGATGGCTGGCCCAC 0.502 NaN 1 0 2.39556e-15 0.26419 2.6494e-15 23 106 MPHOSPH10 10199 broad.mit.edu 37 2 71368431 71368431 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:71368431T>A uc002sht.1 + 7 1730 c.1378T>A c.(1378-1380)TTA>ATA p.L460I NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 460 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 GCGTTTAACCTTAGACCATGA 0.378 NaN 0 0 0 0.139131 0 89 180 FAHD2A 51011 broad.mit.edu 37 2 96072867 96072867 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:96072867G>C uc002sur.2 + 3 603 c.424G>C c.(424-426)GGG>CGG p.G142R FAHD2A_uc002sus.2_Missense_Mutation_p.G142R NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 142 hydrolase activity|metal ion binding ovary(1) 1 CTCCATCGTGGGGCCCTATGA 0.577 NaN 0 0 0 0.153744 0 32 45 GLI2 2736 broad.mit.edu 37 2 121747297 121747297 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:121747297C>T uc010flp.2 + 13 3837 c.3807C>T c.(3805-3807)TCC>TCT p.S1269S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.S941S|GLI2_uc002tmu.3_Silent_p.S924S NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1269 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) TCCCCCAATCCTGCAGCAACA 0.622 NaN 0 0 0 0.083992 0 24 15 CCDC74B 91409 broad.mit.edu 37 2 130897506 130897506 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:130897506G>A uc002tqm.1 - 7 1027 c.965C>T c.(964-966)ACG>ATG p.T322M CCDC74B_uc010yzw.1_Missense_Mutation_p.T424M|CCDC74B_uc002tqn.1_Missense_Mutation_p.T256M NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 322 0 Colorectal(110;0.1) GGGGAAATGCGTGGCTTCTTG 0.627 NaN 0 0 0 0.249174 0 20 42 RBM44 375316 broad.mit.edu 37 2 238726589 238726589 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:238726589G>A uc002vxi.3 + 3 1162 c.1030G>A c.(1030-1032)GGA>AGA p.G344R NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 343 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGATTTTTGTGGAAATAAAAT 0.308 NaN 0 0 0 0.116897 0 28 20 CHGB 1114 broad.mit.edu 37 20 5904525 5904525 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:5904525G>T uc002wmg.2 + 4 2041 c.1735G>T c.(1735-1737)GAT>TAT p.D579Y CHGB_uc010zqz.1_Missense_Mutation_p.D262Y NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 579 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 CTTCTCTGAGGATGTGAACTG 0.502 NaN 1 0 4.14922e-12 0.146539 4.52888e-12 15 52 SAMHD1 25939 broad.mit.edu 37 20 35579911 35579911 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:35579911C>T uc002xgh.1 - 1 266 c.136G>A c.(136-138)GGT>AGT p.G46S NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 46 SAM. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) TGCTCCGGACCCCATGTCTTG 0.652 NaN 0 0 0 0.153744 0 32 148 PSMA7 5688 broad.mit.edu 37 20 60714933 60714933 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:60714933G>A uc002ybx.1 - 3 367 c.252C>T c.(250-252)ATC>ATT p.I84I PSMA7_uc002yby.1_RNA NM_002792 NP_002783 O14818 PSA7_HUMAN proteasome alpha 7 subunit 84 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GGGCCCTGTTGATGACTATCC 0.597 NaN 0 0 0 0.11911 0 15 21 DIDO1 11083 broad.mit.edu 37 20 61527666 61527666 + Missense_Mutation SNP A A T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:61527666A>T uc002ydr.1 - 8 2397 c.2133T>A c.(2131-2133)TTT>TTA p.F711L DIDO1_uc002yds.1_Missense_Mutation_p.F711L|DIDO1_uc002ydt.1_Missense_Mutation_p.F711L|DIDO1_uc002ydu.1_Missense_Mutation_p.F711L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 711 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GAAACAAGTTAAACATCTCCT 0.388 NaN 0 0 0 0.234183 0 23 56 BRWD1 54014 broad.mit.edu 37 21 40569194 40569194 + Missense_Mutation SNP G G A rs145664878 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr21:40569194G>A uc002yxk.1 - 41 5940 c.5801C>T c.(5800-5802)ACG>ATG p.T1934M BRWD1_uc010goc.1_Missense_Mutation_p.T577M|BRWD1_uc002yxl.2_Missense_Mutation_p.T1934M NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1934 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTGGCAGCCGTAGCTGCACA 0.423 NaN 0 0 0 0.139131 0 56 29 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr22:29091841G>A uc003adu.1 - 11 1188 c.1116C>T c.(1114-1116)TCC>TCT p.S372S CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 372 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCAAAATCTTGGAGTGCCCAA 0.413 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.047766 0 6 51 SLC35E4 339665 broad.mit.edu 37 22 31032724 31032724 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr22:31032724G>A uc003ais.1 + 1 932 c.287G>A c.(286-288)CGG>CAG p.R96Q SLC35E4_uc003ait.2_Missense_Mutation_p.R84Q NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 96 integral to membrane 0 GCATGCCACCGGGGGGCACGG 0.662 NaN 0 0 0 0.080935 0 12 3 LRRN1 57633 broad.mit.edu 37 3 3886952 3886952 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:3886952G>A uc003bpt.3 + 2 1388 c.627G>A c.(625-627)ATG>ATA p.M209I SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 209 Extracellular (Potential).|LRR 6. integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TTCTGGATATGAACTTCAAAC 0.413 NaN 0 0 0 0.139131 0 89 158 DCLK3 85443 broad.mit.edu 37 3 36779198 36779198 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:36779198G>A uc003cgi.2 - 2 1444 c.953C>T c.(952-954)CCT>CTT p.P318L NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 318 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 TAGCTTTGCAGGTTGGTCATC 0.567 NaN 0 0 0 0.139131 0 53 131 ZNF502 91392 broad.mit.edu 37 3 44762896 44762896 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:44762896C>T uc011baa.1 + 4 842 c.587C>T c.(586-588)TCA>TTA p.S196L ZNF502_uc003cns.2_Missense_Mutation_p.S196L|ZNF502_uc011bab.1_Missense_Mutation_p.S196L|ZNF502_uc003cnt.2_Missense_Mutation_p.S196L NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 196 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGTCGTAGTTCATTCCTTGTT 0.428 NaN 0 0 0 0.139131 0 70 159 CDC25A 993 broad.mit.edu 37 3 48224431 48224431 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:48224431C>A uc003csh.1 - 5 781 c.417G>T c.(415-417)GAG>GAT p.E139D CDC25A_uc003csi.1_Missense_Mutation_p.E139D NM_001789 NP_001780 P30304 MPIP1_HUMAN cell division cycle 25A isoform a 139 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|kidney(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TTTCCTTGTTCTCATCTGGGT 0.483 NaN 1 0 3.73148e-12 0.125774 4.09971e-12 29 61 CELSR3 1951 broad.mit.edu 37 3 48682555 48682555 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:48682555G>A uc003cul.2 - 25 8166 c.7885C>T c.(7885-7887)CGC>TGC p.R2629C CELSR3_uc003cuf.1_Missense_Mutation_p.R2726C|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.R612C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2629 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCTGCATGCGGTAGAGGTGC 0.657 NaN 0 0 0 0.146539 0 14 22 C3orf63 23272 broad.mit.edu 37 3 56662575 56662575 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:56662575A>G uc003did.3 - 18 3733 c.3632T>C c.(3631-3633)TTA>TCA p.L1211S C3orf63_uc003dib.3_Missense_Mutation_p.L330S|C3orf63_uc003dic.3_Missense_Mutation_p.L835S|C3orf63_uc003die.3_Missense_Mutation_p.L1272S NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1272 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TAGTTTATCTAATTTTGATCT 0.274 NaN 0 0 0 0.132662 0 16 41 ATP13A3 79572 broad.mit.edu 37 3 194174455 194174455 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:194174455G>A uc003fty.3 - 9 1220 c.818C>T c.(817-819)TCA>TTA p.S273L ATP13A3_uc003ftz.1_5'Flank NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 273 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TCTACAAACTGAAACTCTTAC 0.348 NaN 0 0 0 0.204396 0 19 24 TNK2 10188 broad.mit.edu 37 3 195599181 195599181 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:195599181G>C uc003fvu.1 - 10 1960 c.1417C>G c.(1417-1419)CGC>GGC p.R473G TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Missense_Mutation_p.R505G|TNK2_uc003fvt.1_Missense_Mutation_p.R536G|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Missense_Mutation_p.R303G NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 473 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CAGCAGTGGCGGGGGTCACTG 0.677 NaN 0 0 0 0.038147 0 8 18 PAK2 5062 broad.mit.edu 37 3 196530009 196530009 + Missense_Mutation SNP A A C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:196530009A>C uc003fwy.3 + 4 732 c.410A>C c.(409-411)CAG>CCG p.Q137P NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 137 Autoregulatory region (By similarity). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ACAGTGAAGCAGAAATATCTG 0.428 NaN 0 0 0 0.203993 0 36 19 LMLN 89782 broad.mit.edu 37 3 197712742 197712742 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:197712742C>T uc011buo.1 + 8 932 c.910C>T c.(910-912)CTC>TTC p.L304F LMLN_uc003fyt.2_Missense_Mutation_p.L252F|LMLN_uc010iar.2_Missense_Mutation_p.L304F|LMLN_uc010ias.2_Missense_Mutation_p.L252F|LMLN_uc003fyu.2_Missense_Mutation_p.L64F NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 304 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TGCAGATGGCCTCCCACCTTT 0.378 NaN 0 0 0 0.189662 0 17 10 ACOX3 8310 broad.mit.edu 37 4 8412072 8412072 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:8412072A>G uc010idk.2 - 6 699 c.554T>C c.(553-555)ATA>ACA p.I185T ACOX3_uc003glc.3_Missense_Mutation_p.I185T|ACOX3_uc003gld.3_Missense_Mutation_p.I185T|ACOX3_uc003gle.1_Missense_Mutation_p.I90T NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 185 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 AGGGGAATGTATGATGAATTC 0.438 NaN 0 0 0 0.116897 0 27 16 C4orf14 84273 broad.mit.edu 37 4 57842668 57842668 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:57842668C>T uc003hck.2 - 1 1159 c.1084G>A c.(1084-1086)GAT>AAT p.D362N POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 362 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) GTGCAGTAATCGGACTCCAGG 0.607 NaN 0 0 0 0.105934 0 14 14 HSD17B11 51170 broad.mit.edu 37 4 88312220 88312220 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:88312220C>T uc003hqp.2 - 1 236 c.3G>A c.(1-3)ATG>ATA p.M1I NM_016245 NP_057329 Q8NBQ5 DHB11_HUMAN estradiol 17-beta-dehydrogenase 11 1 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity ovary(2) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) GAAGAAATTTCATCCCTTTTG 0.428 NaN 0 0 0 0.09319 0 13 9 SDHA 6389 broad.mit.edu 37 5 236602 236602 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:236602G>A uc003jao.3 + 10 1435 c.1320G>A c.(1318-1320)GAG>GAA p.E440E SDHA_uc011clv.1_Silent_p.E440E|SDHA_uc011clw.1_Silent_p.E392E|SDHA_uc003jap.3_Silent_p.E440E|SDHA_uc003jaq.3_Silent_p.E215E|SDHA_uc003jar.3_Silent_p.E34E NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 440 FAD (By similarity). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCTGTGGGGAGGCCGCCTGTG 0.592 NaN Familial_Paragangliomas 0 0 0 0.189662 0 20 47 SLC6A3 6531 broad.mit.edu 37 5 1406324 1406324 + Silent SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:1406324C>A uc003jck.2 - 12 1699 c.1578G>T c.(1576-1578)CTG>CTT p.L526L NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 526 Helical; Name=11; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGGGGCTGACCAGCTTCCAGC 0.672 NaN 1 0 2.42023e-17 0.183431 2.73094e-17 36 52 GDNF 2668 broad.mit.edu 37 5 37834771 37834771 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:37834771G>A uc011cpi.1 - 2 328 c.128C>T c.(127-129)GCG>GTG p.A43V GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Intron|GDNF_uc011cpe.1_Intron|GDNF_uc011cpf.1_Intron|GDNF_uc011cpg.1_Missense_Mutation_p.A60V|GDNF_uc011cph.1_Intron NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 43 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) CGCGAAGGGCGCGCGGCGGCG 0.657 NaN 0 0 0 0.115264 0 3 16 GPR98 84059 broad.mit.edu 37 5 89990019 89990019 + Nonsense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:89990019C>A uc003kju.2 + 33 7542 c.7446C>A c.(7444-7446)TAC>TAA p.Y2482* GPR98_uc003kjt.2_Nonsense_Mutation_p.Y188*|GPR98_uc003kjv.2_Nonsense_Mutation_p.Y82* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2482 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTGGACCTACAGGAAAAACA 0.493 NaN 1 0 0.000157383 0.038147 0.000160262 8 47 REEP5 7905 broad.mit.edu 37 5 112257852 112257852 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:112257852G>A uc003kqe.1 - 1 180 c.36C>T c.(34-36)TTC>TTT p.F12F REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.F12F|REEP5_uc011cvz.1_RNA NM_005669 NP_005660 Q00765 REEP5_HUMAN receptor accessory protein 5 12 integral to membrane protein binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TCTCGTGCAGGAACCGGTCGA 0.647 NaN 0 0 0 0.184627 0 5 21 PSD2 84249 broad.mit.edu 37 5 139193876 139193876 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:139193876C>G uc003leu.1 + 4 1148 c.943C>G c.(943-945)CAT>GAT p.H315D NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 315 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGCTGCTCATCGGCTGGC 0.647 NaN 0 0 0 0.219247 0 22 38 PCDHA2 56146 broad.mit.edu 37 5 140176494 140176494 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140176494G>A uc003lhd.2 + 1 2051 c.1945G>A c.(1945-1947)GTG>ATG p.V649M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V649M|PCDHA2_uc011czy.1_Missense_Mutation_p.V649M NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 649 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCTACTCGTGCTGGTGAA 0.652 NaN 0 0 0 0.11911 0 15 68 PCDHB1 29930 broad.mit.edu 37 5 140431567 140431567 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140431567C>A uc003lik.1 + 1 589 c.512C>A c.(511-513)ACC>AAC p.T171N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 171 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAACTACACCCTGAGTGCC 0.567 NaN 1 0 7.93312e-07 0.11911 8.33227e-07 12 75 PCDHGA12 26025 broad.mit.edu 37 5 140811312 140811312 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140811312C>T uc003lkt.1 + 1 1155 c.986C>T c.(985-987)GCG>GTG p.A329V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A329V NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 329 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATATTCTGCGCGAGCCAAA 0.507 NaN 0 0 0 0.139131 0 50 71 PWWP2A 114825 broad.mit.edu 37 5 159520621 159520621 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:159520621A>G uc011ded.1 - 2 1093 c.1036T>C c.(1036-1038)TCT>CCT p.S346P PWWP2A_uc003lxv.3_Missense_Mutation_p.S346P|PWWP2A_uc011dec.1_Missense_Mutation_p.S346P NM_001130864 NP_001124336 Q96N64 PWP2A_HUMAN PWWP domain containing 2A isoform b 346 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCATATTTAGAAGAGTCAGTT 0.328 NaN 0 0 0 0.047766 0 9 32 SH3PXD2B 285590 broad.mit.edu 37 5 171773245 171773245 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:171773245C>T uc003mbr.2 - 12 1254 c.1083G>A c.(1081-1083)CCG>CCA p.P361P NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 361 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCGGCTTCGGCAGGTTGA 0.597 NaN 0 0 0 0.26419 0 25 105 SQSTM1 8878 broad.mit.edu 37 5 179263587 179263587 + Silent SNP G G A rs11548636 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:179263587G>A uc003mkw.3 + 8 1412 c.1317G>A c.(1315-1317)CCG>CCA p.P439P SQSTM1_uc011dgr.1_Silent_p.P355P|SQSTM1_uc011dgs.1_Silent_p.P355P|SQSTM1_uc003mkv.3_Missense_Mutation_p.R356H|SQSTM1_uc003mkx.2_Silent_p.P355P NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 439 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCCCCGCCGTTGTGACCAC 0.542 NaN Paget_Disease_of_Bone 0 0 0 0.139131 0 48 56 BTNL9 153579 broad.mit.edu 37 5 180486555 180486555 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:180486555C>T uc003mmt.2 + 11 1532 c.1301C>T c.(1300-1302)GCC>GTC p.A434V NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 434 Cytoplasmic (Potential).|B30.2/SPRY. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCGTCCTGGCCCCGCACCGC 0.741 NaN 0 0 0 0.146539 0 16 17 RANBP9 10048 broad.mit.edu 37 6 13639851 13639851 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:13639851T>C uc003nbb.2 - 9 1528 c.1469A>G c.(1468-1470)CAT>CGT p.H490R RANBP9_uc003nba.2_Missense_Mutation_p.H149R NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 490 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ATTCATTCCATGGCTGGGGCT 0.403 NaN 0 0 0 0.173368 0 33 45 MICB 4277 broad.mit.edu 37 6 31477644 31477644 + Silent SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:31477644G>C uc003ntn.3 + 6 1226 c.1110G>C c.(1108-1110)CTG>CTC p.L370L MICB_uc011dnm.1_Silent_p.L338L|MICB_uc003nto.3_Silent_p.L327L NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 370 Cytoplasmic (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 TTCAGCCTCTGATGTCAGCTA 0.577 NaN 0 0 0 0.203993 0 39 54 FTSJD2 23070 broad.mit.edu 37 6 37429339 37429339 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:37429339G>A uc003ons.2 + 11 1363 c.1110G>A c.(1108-1110)GAG>GAA p.E370E FTSJD2_uc010jwu.2_Silent_p.E314E NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 370 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding p.E370D(1) ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TCTCGGTGGAGGGGCAGGAGA 0.512 NaN 0 0 0 0.184627 0 5 31 MRPS10 55173 broad.mit.edu 37 6 42179605 42179605 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:42179605C>G uc003osa.3 - 4 283 c.237G>C c.(235-237)TTG>TTC p.L79F MRPS10_uc011dup.1_Missense_Mutation_p.L38F NM_018141 NP_060611 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 79 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome 0 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) GACCTTTCACCAAAACCGAGA 0.363 NaN 0 0 0 0.108266 0 28 48 HNRNPA2B1 3181 broad.mit.edu 37 7 26237281 26237281 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:26237281C>T uc003sxr.3 - 3 330 c.114G>A c.(112-114)AGG>AGA p.R38R HNRNPA2B1_uc003sxs.3_Silent_p.R26R NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 38 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CGTAGTAGTTCCTCAAACTTT 0.353 NaN T ETV1 prostate 0 0 0 0.160694 0 15 54 GLI3 2737 broad.mit.edu 37 7 42005031 42005031 + Nonsense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:42005031G>A uc011kbh.1 - 15 3731 c.3640C>T c.(3640-3642)CAG>TAG p.Q1214* GLI3_uc011kbg.1_Nonsense_Mutation_p.Q1155* NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1214 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CCGAGGGTCTGATAGCCCCCA 0.652 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.124865 0 47 69 CCM2 83605 broad.mit.edu 37 7 45108111 45108111 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:45108111C>A uc003tmo.2 + 5 688 c.542C>A c.(541-543)TCC>TAC p.S181Y CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S123Y|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Missense_Mutation_p.S144Y|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.S202Y NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 181 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 AGTGCAGGCTCCCTGTCGGAG 0.592 NaN Familial_Cerebral_Cavernous_Angioma 1 0 6.1207e-33 0.131918 7.00107e-33 46 62 POM121L12 285877 broad.mit.edu 37 7 53103824 53103824 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:53103824C>T uc003tpz.2 + 1 476 c.460C>T c.(460-462)CCT>TCT p.P154S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 154 0 CTGGAGATCCCCTGGACAGAG 0.592 NaN 0 0 0 0.09319 0 13 27 MAGI2 9863 broad.mit.edu 37 7 78130897 78130897 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:78130897A>G uc003ugx.2 - 5 1216 c.962T>C c.(961-963)ATT>ACT p.I321T MAGI2_uc003ugy.2_Missense_Mutation_p.I321T|MAGI2_uc011kgr.1_Missense_Mutation_p.I153T|MAGI2_uc011kgs.1_Missense_Mutation_p.I158T NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 321 WW 1.|Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AACTCACTCAATGAAGTAGAC 0.388 NaN 0 0 0 0.146539 0 17 67 PCLO 27445 broad.mit.edu 37 7 82580339 82580339 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:82580339C>T uc003uhx.2 - 6 9854 c.9565G>A c.(9565-9567)GAA>AAA p.E3189K PCLO_uc003uhv.2_Missense_Mutation_p.E3189K|PCLO_uc010lec.2_Missense_Mutation_p.E154K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3120 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAAACACTTCGGATGCTGTG 0.443 NaN 0 0 0 0.080935 0 12 18 ADAM22 53616 broad.mit.edu 37 7 87762258 87762258 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:87762258G>A uc003ujn.2 + 12 1148 c.1069G>A c.(1069-1071)GTG>ATG p.V357M ADAM22_uc003ujk.1_Missense_Mutation_p.V357M|ADAM22_uc003ujl.1_Missense_Mutation_p.V357M|ADAM22_uc003ujm.2_Missense_Mutation_p.V357M|ADAM22_uc003ujo.2_Missense_Mutation_p.V357M|ADAM22_uc003ujp.1_Missense_Mutation_p.V409M NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 357 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGGAGGAGGCGTGAATGAAGT 0.398 NaN 0 0 0 0.248553 0 5 70 ACTL6B 51412 broad.mit.edu 37 7 100244899 100244899 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:100244899G>A uc003uvy.2 - 9 875 c.768C>T c.(766-768)ATC>ATT p.I256I ACTL6B_uc003uvx.1_Silent_p.I47I|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 256 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGAAGTCCTGGATCACCTCCT 0.672 NaN 0 0 0 0.249174 0 22 23 GPR37 2861 broad.mit.edu 37 7 124386891 124386891 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:124386891G>C uc003vli.2 - 2 2181 c.1530C>G c.(1528-1530)ATC>ATG p.I510M NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 510 Helical; Name=6; (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 CAATGTTGCAGATATTTTCAG 0.418 NaN 0 0 0 0.234183 0 22 72 ZNF862 643641 broad.mit.edu 37 7 149558351 149558351 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:149558351T>C uc010lpn.2 + 7 2294 c.2102T>C c.(2101-2103)ATG>ACG p.M701T ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GGCTCAGCCATGTTGAGCTGC 0.632 NaN 0 0 0 0.115264 0 3 11 NUB1 51667 broad.mit.edu 37 7 151042482 151042482 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:151042482G>T uc003wjx.2 + 2 124 c.119G>T c.(118-120)AGG>ATG p.R40M NUB1_uc011kvi.1_Missense_Mutation_p.R40M|NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Missense_Mutation_p.R16M|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA NM_016118 NP_057202 Q9Y5A7 NUB1_HUMAN NEDD8 ultimate buster-1 16 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding 0 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CAGTTTTTAAGGGAAGACAGG 0.303 NaN 1 0 2.17888e-05 0.058154 2.24613e-05 9 21 SGK223 157285 broad.mit.edu 37 8 8235550 8235550 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:8235550C>T uc003wsh.3 - 2 369 c.369G>A c.(367-369)CCG>CCA p.P123P NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 123 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CCTCCTGCTTCGGGAGGGGGA 0.552 NaN 0 0 0 0.203993 0 36 19 TEX15 56154 broad.mit.edu 37 8 30702216 30702216 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:30702216C>A uc003xil.2 - 1 4318 c.4318G>T c.(4318-4320)GAT>TAT p.D1440Y NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1440 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTACATTATCTTTTAAAAGC 0.348 NaN 1 0 0.000157383 0.038147 0.000160262 8 28 PRKDC 5591 broad.mit.edu 37 8 48690396 48690396 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:48690396G>A uc003xqi.2 - 85 11950 c.11893C>T c.(11893-11895)CGC>TGC p.R3965C PRKDC_uc003xqj.2_Missense_Mutation_p.R3934C|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3965 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAAACTGGCGAGTTAGCCGA 0.483 NaN NHEJ 0 0 0 0.105934 0 14 73 SHB 6461 broad.mit.edu 37 9 37955959 37955959 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:37955959G>C uc004aax.2 - 4 1715 c.1147C>G c.(1147-1149)CCT>GCT p.P383A NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 383 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGTTTGATAGGCTTAAAGCCC 0.597 NaN 0 0 0 0.184627 0 5 2 KIAA0368 23392 broad.mit.edu 37 9 114151916 114151916 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:114151916G>T uc004bfe.1 - 32 3901 c.3901C>A c.(3901-3903)CGT>AGT p.R1301S NM_001080398 NP_001073867 KIAA0368 protein 0 AACTGGTAACGATAAAGTCGA 0.453 NaN 1 0 2.23348e-06 0.146539 2.31672e-06 17 23 SLC46A2 57864 broad.mit.edu 37 9 115652599 115652599 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:115652599G>A uc004bgk.2 - 1 595 c.363C>T c.(361-363)CTC>CTT p.L121L NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 121 Helical; Name=3; (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 GCAGCAGCCCGAGGCGGGAGA 0.677 NaN 0 0 0 0.099896 0 28 12 ARHGAP6 395 broad.mit.edu 37 X 11206894 11206894 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:11206894G>A uc004cup.1 - 4 1904 c.1031C>T c.(1030-1032)TCA>TTA p.S344L ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S344L|ARHGAP6_uc004cum.1_Missense_Mutation_p.S141L|ARHGAP6_uc004cun.1_Missense_Mutation_p.S164L|ARHGAP6_uc010neb.1_Missense_Mutation_p.S166L|ARHGAP6_uc011mif.1_Missense_Mutation_p.S141L NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 344 SH3-binding. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 TGGGGACGTTGACTCATTCGG 0.498 NaN 0 0 0 0.204396 0 19 40 FAM47B 170062 broad.mit.edu 37 X 34960988 34960988 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:34960988G>A uc004ddi.1 + 1 58 c.40G>A c.(40-42)GGC>AGC p.G14S NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 14 ovary(3)|breast(1) 4 AAGGTCCCAAGGCATGGACTC 0.622 NaN 0 0 0 0.184627 0 5 20 SPIN4 139886 broad.mit.edu 37 X 62570455 62570455 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:62570455C>G uc004dvf.2 - 1 764 c.244G>C c.(244-246)GAT>CAT p.D82H NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 82 gamete generation ovary(1)|lung(1) 2 TACACACTATCTTTGCCATCA 0.498 NaN 0 0 0 0.150653 0 4 17 MED12 9968 broad.mit.edu 37 X 70349240 70349240 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:70349240G>A uc004dyy.2 + 26 3851 c.3652G>A c.(3652-3654)GGA>AGA p.G1218R MED12_uc011mpq.1_Missense_Mutation_p.G1218R|MED12_uc004dyz.2_Missense_Mutation_p.G1218R|MED12_uc004dza.2_Missense_Mutation_p.G1065R|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1218 androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CATCGTGGATGGAGCCGTGTT 0.577 NaN OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.248553 0 7 20 SMARCA1 6594 broad.mit.edu 37 X 128638781 128638781 + Splice_Site SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:128638781T>C uc004eun.3 - 9 1212 c.1099_splice c.e9-1 p.D367_splice SMARCA1_uc004eup.3_Splice_Site_p.D367_splice|SMARCA1_uc011muk.1_Splice_Site_p.D367_splice|SMARCA1_uc011mul.1_Splice_Site_p.D367_splice NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 ATCAAAGTCCTGTAGAGGGGT 0.343 NaN 0 0 0 0.083992 0 26 36 CETN2 1069 broad.mit.edu 37 X 151997114 151997114 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:151997114C>A uc004fgq.2 - 4 443 c.396G>T c.(394-396)GAG>GAT p.E132D CETN2_uc004fgr.2_Missense_Mutation_p.E61D|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank NM_004344 NP_004335 P41208 CETN2_HUMAN caltractin 132 EF-hand 3. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TCTCACCCAACTCCTTGGCCA 0.418 NaN Direct_reversal_of_damage|NER 1 0 1.68575e-08 0.125774 1.79313e-08 28 35 SIDT2 51092 broad.mit.edu 37 11 117064644 117064645 + In_Frame_Ins INS - - TCT TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:117064644_117064645insTCT uc001pqh.1 + 24 2328_2329 c.2287_2288insTCT c.(2287-2289)CTC>CTCTTC p.767_768insF SIDT2_uc010rxe.1_In_Frame_Ins_p.767_768insF|SIDT2_uc001pqg.2_In_Frame_Ins_p.788_789insF|SIDT2_uc001pqi.1_In_Frame_Ins_p.764_765insF|SIDT2_uc001pqj.1_In_Frame_Ins_p.79_80insF NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 767_768 Cytoplasmic (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGGCTTCGCGCTCTTCTTCTTC 0.604 NaN NaN NaN NaN NaN NaN 20 26 --- --- ZC3H18 124245 broad.mit.edu 37 16 88666210 88666211 + Frame_Shift_Ins INS - - GC TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:88666210_88666211insGC uc002fky.2 + 6 1142_1143 c.942_943insGC c.(940-945)AAAGCAfs p.K314fs ZC3H18_uc010voy.1_Frame_Shift_Ins_p.K197fs|ZC3H18_uc010voz.1_Frame_Shift_Ins_p.K338fs NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 314_315 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) TTTTAAAAAAAGCAACTATTCG 0.431 NaN NaN NaN NaN NaN NaN 38 121 --- --- ZDBF2 57683 broad.mit.edu 37 2 207169788 207169789 + Frame_Shift_Ins INS - - C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:207169788_207169789insC uc002vbp.2 + 5 786_787 c.536_537insC c.(535-537)CGCfs p.R179fs NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 179 nucleic acid binding|zinc ion binding ovary(3) 3 AACTTGGTACGCCCCCCAGTGA 0.426 NaN NaN NaN NaN NaN NaN 18 24 --- --- RHBDD1 84236 broad.mit.edu 37 2 227779059 227779059 + Frame_Shift_Del DEL G G - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:227779059delG uc002voi.2 + 6 969 c.848delG c.(847-849)TGGfs p.W283fs RHBDD1_uc010fxc.2_Frame_Shift_Del_p.W283fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.W114fs NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 283 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) GCCAGCCTCTGGGACCGAGGT 0.443 NaN NaN NaN NaN NaN NaN 21 24 --- --- FBXO38 81545 broad.mit.edu 37 5 147781970 147781974 + Frame_Shift_Del DEL TCATA TCATA - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:147781970_147781974delTCATA uc003lpf.1 + 5 606_610 c.486_490delTCATA c.(484-492)GTTCATATTfs p.V162fs FBXO38_uc003lpg.1_Frame_Shift_Del_p.V162fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.V162fs NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 162_164 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCCCATGTTCATATTTTGGGGAA 0.346 NaN NaN NaN NaN NaN NaN 25 67 --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:20414278_20414280delCTG uc003zoe.2 - 5 823_825 c.564_566delCAG c.(562-567)AGCAGT>AGT p.188_189SS>S MLLT3_uc011lne.1_In_Frame_Del_p.156_157SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.185_186SS>S|MLLT3_uc003zof.2_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 188_189 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ACTGGTActactgctgctgctgc 0.182 NaN T MLL ALL NaN NaN NaN NaN NaN 7 124 --- ---