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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut AADACL4 343066 broad.mit.edu 37 1 12726494 12726494 + Silent SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:12726494A>G uc001auf.2 + 4 972 c.972A>G c.(970-972)TCA>TCG p.S324S NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 324 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TAGAAAATTCACCCCTGATAG 0.473 NA 3 121 0 0 0.004672 0 0 MYOM3 127294 broad.mit.edu 37 1 24397690 24397690 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:24397690G>A uc001bin.3 - 25 3230 c.3067C>T c.(3067-3069)CGG>TGG p.R1023W MYOM3_uc001bim.3_Missense_Mutation_p.R680W|MYOM3_uc001bio.2_Missense_Mutation_p.R1023W NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1023 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGCCAAAGCCGCACCTCCCCT 0.552 NA OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 23 0 0 0.004672 0 0 GSTM3 2947 broad.mit.edu 37 1 110280922 110280922 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:110280922G>A uc001dyo.2 - 5 566 c.256C>T c.(256-258)CGC>TGC p.R86C GSTM3_uc001dyp.2_Missense_Mutation_p.R83C|GSTM3_uc010ovv.1_Missense_Mutation_p.R86C NM_000849 NP_000840 P21266 GSTM3_HUMAN glutathione S-transferase mu 3 86 GST N-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding 0 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTGTGCTTGCGAGCGATGTAG 0.517 NA 20 37 0 0 0.055883 0 0 SEC31B 25956 broad.mit.edu 37 10 102256138 102256138 + Silent SNP C C G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr10:102256138C>G uc001krc.1 - 18 2289 c.2187G>C c.(2185-2187)CGG>CGC p.R729R SEC31B_uc010qpo.1_Silent_p.R728R|SEC31B_uc001krd.1_Silent_p.R266R|SEC31B_uc001krf.1_Silent_p.R266R|SEC31B_uc001kre.1_Silent_p.R266R|SEC31B_uc001krg.1_Silent_p.R298R NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 729 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CATGAGGACCCCGCAGTTGCT 0.587 NA 23 47 0 0 0.076483 0 0 BCL9L 283149 broad.mit.edu 37 11 118771997 118771997 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr11:118771997G>A uc001pug.2 - 6 3420 c.2455C>T c.(2455-2457)CGG>TGG p.R819W BCL9L_uc009zal.2_Missense_Mutation_p.R814W NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 819 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCCCGAACCCGGGCCATCTCC 0.642 NA 18 46 0 0 0.043863 0 0 OR4K2 390431 broad.mit.edu 37 14 20344588 20344588 + Missense_Mutation SNP C C A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:20344588C>A uc001vwh.1 + 1 162 c.162C>A c.(160-162)CAC>CAA p.H54Q NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGACCCTCACCTACACTCTC 0.403 NA 141 158 2.39329e-74 2.97702e-74 0.048971 1 0 PSME1 5720 broad.mit.edu 37 14 24607425 24607425 + Missense_Mutation SNP G G C TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:24607425G>C uc001wmg.2 + 8 574 c.480G>C c.(478-480)ATG>ATC p.M160I PSME1_uc001wmh.2_Missense_Mutation_p.M160I NM_006263 NP_006254 Q06323 PSME1_HUMAN proteasome activator subunit 1 isoform 1 160 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|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|proteasome activator complex ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00831) TTGAGCTGATGACCAGCCTCC 0.502 NA 15 338 0 0 0.020292 0 0 ADAM6 8755 broad.mit.edu 37 14 106357543 106357543 + Splice_Site SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:106357543C>T uc010tyt.1 - 3047 c.48861_splice c.e3047+1 KIAA0125_uc001ysq.2_Intron|KIAA0125_uc001ysr.2_Intron Parts of antibodies, mostly variable regions. 0 TCTGGCCTGGCGAGTGTCACT 0.592 NA 10 33 0 0 0.09319 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 4 15 0 0 0.014758 0 0 MYH2 4620 broad.mit.edu 37 17 10436696 10436696 + Nonsense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr17:10436696G>A uc010coi.2 - 21 2475 c.2347C>T c.(2347-2349)CGA>TGA p.R783* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.R783*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 783 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTGTCATCTCGCATCTCCTCT 0.488 NA 24 71 0 0 0.076483 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152224 11152224 + Missense_Mutation SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:11152224A>G uc002mqf.3 + 30 4696 c.4412A>G c.(4411-4413)AAG>AGG p.K1471R SMARCA4_uc010dxp.2_Missense_Mutation_p.K1471R|SMARCA4_uc010dxo.2_Missense_Mutation_p.K1503R|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1438R|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1438R|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1441R|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1441R|SMARCA4_uc002mqh.3_Missense_Mutation_p.K561R NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1471 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCCGTGATCAAGTACAAGGAC 0.612 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 10 17 0 0 0.069234 0 0 DHDH 27294 broad.mit.edu 37 19 49445800 49445800 + Silent SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:49445800C>T uc002ple.1 + 5 763 c.723C>T c.(721-723)AGC>AGT p.S241S NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 241 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) CCTCCGTGAGCGGCACCAAGG 0.617 NA 17 29 0 0 0.0333 0 0 U2AF2 11338 broad.mit.edu 37 19 56166481 56166481 + Missense_Mutation SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:56166481T>A uc002qlu.2 + 1 1066 c.11T>A c.(10-12)TTC>TAC p.F4Y U2AF2_uc002qlt.2_Missense_Mutation_p.F4Y NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 4 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATGTCGGACTTCGACGAGTTC 0.692 NA 4 17 0 0 0.009096 0 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C C G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 NA 4 10 0 0 0.009096 0 0 Unknown 0 broad.mit.edu 37 2 190788073 190788073 + Silent SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr2:190788073C>T uc002uro.2 + 1 155 c.12C>T c.(10-12)AAC>AAT p.N4N SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C; NA TGGCCAGCAACGTTACCAACA 0.458 NA 31 50 0 0 0.054565 0 0 DNER 92737 broad.mit.edu 37 2 230312248 230312248 + Missense_Mutation SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr2:230312248C>T uc002vpv.2 - 8 1417 c.1270G>A c.(1270-1272)GGA>AGA p.G424R DNER_uc010zly.1_Missense_Mutation_p.G152R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 424 Extracellular (Potential).|EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAAGCAGATCCGAAGTATCCT 0.453 NA 5 21 0 0 0.014758 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr20:29628283G>C uc010ztl.1 + 3 227 c.195G>C c.(193-195)GGG>GGC p.G65G FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Silent_p.G17G Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGAAGCAGGGGACATAGAAG 0.378 NA 8 168 0 0 0.020292 0 0 LRRC2 79442 broad.mit.edu 37 3 46593057 46593057 + Missense_Mutation SNP C C A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr3:46593057C>A uc010hji.2 - 2 389 c.25G>T c.(25-27)GAC>TAC p.D9Y LRRC2_uc003cpu.3_Missense_Mutation_p.D9Y NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 9 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ACAGAAATGTCGAAGACAACC 0.398 NA 28 59 1.16021e-09 1.40882e-09 0.034045 1 0 RNASEN 29102 broad.mit.edu 37 5 31526237 31526237 + Missense_Mutation SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:31526237T>A uc003jhg.2 - 4 1162 c.803A>T c.(802-804)GAT>GTT p.D268V RNASEN_uc003jhh.2_Missense_Mutation_p.D268V|RNASEN_uc003jhi.2_Missense_Mutation_p.D268V|RNASEN_uc010iui.1_Missense_Mutation_p.D259V NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 268 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TCGGTCATAATCAGATCTGTA 0.582 NA 19 102 0 0 0.049695 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146030242 146030242 + Nonsense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:146030242G>A uc003loe.2 - 5 1018 c.493C>T c.(493-495)CGA>TGA p.R165* PPP2R2B_uc010jgm.2_Nonsense_Mutation_p.R154*|PPP2R2B_uc003log.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003lof.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003loi.3_Nonsense_Mutation_p.R168*|PPP2R2B_uc003loh.3_Nonsense_Mutation_p.R165*|PPP2R2B_uc003loj.3_Nonsense_Mutation_p.R145*|PPP2R2B_uc003lok.3_Nonsense_Mutation_p.R154*|PPP2R2B_uc011dbu.1_Nonsense_Mutation_p.R171*|PPP2R2B_uc011dbv.1_Nonsense_Mutation_p.R223* NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 165 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATACTCTTCGTGGGGTGGCC 0.478 NA 6 45 0 0 0.02938 0 0 ODZ2 57451 broad.mit.edu 37 5 167553836 167553836 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:167553836G>A uc010jjd.2 + 12 2287 c.2287G>A c.(2287-2289)GCA>ACA p.A763T ODZ2_uc003lzr.3_Missense_Mutation_p.A531T|ODZ2_uc003lzt.3_Missense_Mutation_p.A127T|ODZ2_uc010jje.2_Missense_Mutation_p.A34T|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTGGACAGGCGCAGCGTGTGA 0.577 NA 5 19 0 0 0.014758 0 0 STAG3 10734 broad.mit.edu 37 7 99796940 99796940 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr7:99796940G>A uc003utx.1 + 15 1678 c.1523G>A c.(1522-1524)CGG>CAG p.R508Q STAG3_uc010lgs.1_Missense_Mutation_p.R296Q|STAG3_uc011kjk.1_Missense_Mutation_p.R450Q|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 508 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGGGCTCGGCTGAAGGAC 0.562 NA 10 49 0 0 0.080935 0 0 SRRT 51593 broad.mit.edu 37 7 100478963 100478963 + Silent SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr7:100478963G>A uc003uwy.2 + 4 448 c.180G>A c.(178-180)CGG>CGA p.R60R SRRT_uc010lhl.1_Silent_p.R60R|SRRT_uc003uxa.2_Silent_p.R60R|SRRT_uc003uwz.2_Silent_p.R60R NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 60 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 ACTATGACCGGAATCGGCGAG 0.547 NA 17 58 0 0 0.043863 0 0 LOC442421 442421 broad.mit.edu 37 9 66499739 66499739 + Silent SNP G G A rs150502168 by1000genomes TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr9:66499739G>A uc004aee.1 + 1 549 c.549G>A c.(547-549)CCG>CCA p.P183P LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 GCCTGGGACCGTCCATTTTCG 0.602 NA 8 60 0 0 0.020292 0 0 LOC442421 442421 broad.mit.edu 37 9 66499794 66499794 + Missense_Mutation SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr9:66499794C>T uc004aee.1 + 1 604 c.604C>T c.(604-606)CGC>TGC p.R202C LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 GTGCAAGTCGCGCAAGGAGCA 0.587 NA 5 51 0 0 0.047766 0 0 NUP214 8021 broad.mit.edu 37 9 134070639 134070639 + Missense_Mutation SNP A A T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr9:134070639A>T uc004cag.2 + 28 3790 c.3679A>T c.(3679-3681)ATA>TTA p.I1227L NUP214_uc004cah.2_Missense_Mutation_p.I1217L|NUP214_uc004cai.2_Missense_Mutation_p.I657L|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.I53L|NUP214_uc010mzf.2_Missense_Mutation_p.I525L|NUP214_uc011mcf.1_Intron|NUP214_uc010mzh.1_Intron|NUP214_uc010mzi.1_Intron NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1227 Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAATTTTGGGATAATCACACC 0.358 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 38 91 0 0 0.086207 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 NA 5 41 0 0 0.014758 0 0 FGD1 2245 broad.mit.edu 37 X 54497770 54497770 + Missense_Mutation SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:54497770C>T uc004dtg.2 - 2 1192 c.458G>A c.(457-459)CGG>CAG p.R153Q FGD1_uc011moi.1_5'Flank NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 153 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 GCCCGGTGCCCGCTTCAGTGG 0.627 NA 10 57 0 0 0.09319 0 0 CUL4B 8450 broad.mit.edu 37 X 119664014 119664014 + Silent SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:119664014T>A uc004esw.2 - 21 3026 c.2589A>T c.(2587-2589)ACA>ACT p.T863T CUL4B_uc010nqq.2_Silent_p.T564T|CUL4B_uc004esv.2_Silent_p.T845T NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 863 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TGTGGCTAAGTGTCTTTCTCA 0.358 NA 72 356 0 0 0.048971 0 0 F9 2158 broad.mit.edu 37 X 138630558 138630558 + Missense_Mutation SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:138630558A>G uc004fas.1 + 5 457 c.428A>G c.(427-429)CAG>CGG p.Q143R F9_uc004fat.1_Missense_Mutation_p.Q105R NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 143 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGATGCGAGCAGTTTTGTAAA 0.373 NA 32 113 0 0 0.050027 0 0 ARHGAP4 393 broad.mit.edu 37 X 153173206 153173206 + Missense_Mutation SNP C C G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:153173206C>G uc004fjk.1 - 22 2860 c.2818G>C c.(2818-2820)GAC>CAC p.D940H ARHGAP4_uc004fjj.1_Missense_Mutation_p.D291H|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D917H|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D980H|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 940 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGTCGTGTCTAGGCCCTGG 0.716 NA 5 45 0 0 0.014758 0 0 Unknown 0 broad.mit.edu 37 X 155252868 155252868 + Silent SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:155252868T>A uc004fnw.1 + 6 1571 c.912T>A c.(910-912)CCT>CCA p.P304P uc004fnx.3_Silent_p.P90P NM_182905 NP_878908 WAS protein family homolog 1 NA TAGCCGAGCCTCTCAAGGCAG 0.632 NA 5 8 0 0 0.021553 0 0 PDE9A 5152 broad.mit.edu 37 21 44185571 44185571 + Frame_Shift_Del DEL T T - TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr21:44185571delT uc002zbm.2 + 15 1386 c.1323delT c.(1321-1323)AATfs p.N441fs PDE9A_uc002zbn.2_Frame_Shift_Del_p.N314fs|PDE9A_uc002zbo.2_Frame_Shift_Del_p.N388fs|PDE9A_uc002zbp.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbq.2_Frame_Shift_Del_p.N339fs|PDE9A_uc002zbs.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbr.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zbt.2_Frame_Shift_Del_p.N313fs|PDE9A_uc002zbu.2_Frame_Shift_Del_p.N307fs|PDE9A_uc002zbv.2_Frame_Shift_Del_p.N281fs|PDE9A_uc002zbw.2_Frame_Shift_Del_p.N224fs|PDE9A_uc002zbx.2_Frame_Shift_Del_p.N381fs|PDE9A_uc002zby.2_Frame_Shift_Del_p.N224fs|PDE9A_uc002zbz.2_Frame_Shift_Del_p.N333fs|PDE9A_uc002zca.2_Frame_Shift_Del_p.N400fs|PDE9A_uc002zcb.2_Frame_Shift_Del_p.N415fs|PDE9A_uc002zcc.2_Frame_Shift_Del_p.N340fs|PDE9A_uc002zcd.2_Frame_Shift_Del_p.N355fs|PDE9A_uc002zce.2_Frame_Shift_Del_p.N374fs|PDE9A_uc002zcf.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zcg.2_Frame_Shift_Del_p.N234fs|PDE9A_uc002zch.2_Frame_Shift_Del_p.N224fs|PDE9A_uc010gpf.1_Frame_Shift_Del_p.N234fs NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 441 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 AAATGGAGAATTTTGACTACA 0.488 NA 11 30 --- --- --- --- NA NA NA NA NA TOB2 10766 broad.mit.edu 37 22 41832900 41832915 + Frame_Shift_Del DEL CAGGGAGCTGTCCTGG CAGGGAGCTGTCCTGG - TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 CAGGGAGCTGTCCTGG CAGGGAGCTGTCCTGG - - CAGGGAGCTGTCCTGG CAGGGAGCTGTCCTGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr22:41832900_41832915delCAGGGAGCTGTCCTGG uc003azz.1 - 2 1142_1157 c.435_450delCCAGGACAGCTCCCTG c.(433-450)AGCCAGGACAGCTCCCTGfs p.S145fs NM_016272 NP_057356 Q14106 TOB2_HUMAN transducer of ERBB2, 2 145_150 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus p.L150L(1) ovary(1) 1 GGGAGTTGGACAGGGAGCTGTCCTGGCTGCCAATGG 0.616 NA 16 36 --- --- --- --- NA NA NA NA NA