Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut C1orf135 79000 broad.mit.edu 37 1 26162205 26162205 + Missense_Mutation SNP G G T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:26162205G>T uc001bkw.1 - 3 353 c.353C>A c.(352-354)CCT>CAT p.P118H NM_024037 NP_076942 Q9H7T9 CA135_HUMAN aurora A-binding protein 118 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) AGTGGCTAAAGGGGATGCCAT 0.483 NA 5 84 0.00116845 0.00931082 1 0 MACF1 23499 broad.mit.edu 37 1 39903546 39903546 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:39903546G>C uc010oiu.1 + 36 13546 c.13415G>C c.(13414-13416)AGA>ACA p.R4472T MACF1_uc010ois.1_Missense_Mutation_p.R3970T NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACAAGATCAGAGAGTGCATC 0.488 NA 3 134 0 0 0 0 RAVER2 55225 broad.mit.edu 37 1 65243359 65243359 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:65243359C>G uc001dbs.1 + 3 448 c.370C>G c.(370-372)CAT>GAT p.H124D RAVER2_uc001dbt.1_Missense_Mutation_p.H3D|RAVER2_uc010opb.1_Missense_Mutation_p.H3D NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 124 RRM 1. cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 TCAGATGTTTCATCAATATTC 0.328 NA 3 111 0 0 0 0 FCGR1A 2209 broad.mit.edu 37 1 149761632 149761632 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:149761632G>A uc001esp.3 + 5 632 c.582G>A c.(580-582)CTG>CTA p.L194L HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 194 Extracellular (Potential).|Ig-like C2-type 3. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCCAGTGCTGAATGCATCTG 0.498 NA 5 65 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152191393 152191393 + Silent SNP G G T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:152191393G>T uc001ezt.1 - 3 2788 c.2712C>A c.(2710-2712)CCC>CCA p.P904P NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 904 10 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCATAGCTGGGAGACTGCC 0.647 NA 30 175 3.99e-17 3.44e-16 1 0 ZBTB7B 51043 broad.mit.edu 37 1 154987971 154987971 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:154987971G>A uc001fgk.3 + 3 993 c.835G>A c.(835-837)GAA>AAA p.E279K ZBTB7B_uc009wpa.2_Missense_Mutation_p.E279K|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E313K|ZBTB7B_uc010peq.1_Missense_Mutation_p.E313K|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E279K NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 279 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGAGGAAGAAGAAGAGGAGCT 0.657 NA 6 29 0 0 0 0 TRAF5 7188 broad.mit.edu 37 1 211545470 211545470 + Missense_Mutation SNP C C A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:211545470C>A uc001hih.2 + 11 1160 c.1100C>A c.(1099-1101)GCC>GAC p.A367D TRAF5_uc001hii.2_Missense_Mutation_p.A367D|TRAF5_uc010psx.1_Missense_Mutation_p.A378D|TRAF5_uc010psy.1_Missense_Mutation_p.A261D|TRAF5_uc001hij.2_Missense_Mutation_p.A367D NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 367 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TTATTTGCAGCCGTTTTAGAA 0.318 NA 17 52 3.41e-10 2.9e-09 1 0 SMYD2 56950 broad.mit.edu 37 1 214478569 214478569 + Silent SNP A A C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:214478569A>C uc010ptx.1 + 2 246 c.213A>C c.(211-213)GCA>GCC p.A71A SMYD2_uc009xdj.2_Intron|SMYD2_uc010ptw.1_Intron|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 71 MYND-type. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) GCAAGCAGGCATTTTACTGCA 0.473 NA 32 109 0 0 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr10:75406952A>G uc001jut.3 - 4 2610 c.2458T>C c.(2458-2460)TTT>CTT p.F820L SYNPO2L_uc001jus.3_Missense_Mutation_p.F596L NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 820 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577 NA 3 116 0 0 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708979 96708979 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr10:96708979G>A uc001kka.3 + 5 782 c.757G>A c.(757-759)GAA>AAA p.E253K CYP2C9_uc009xut.2_Missense_Mutation_p.E253K NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 253 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGAACACCAAGAATCAATGGA 0.333 NA 6 45 0 0 0 0 OR51L1 119682 broad.mit.edu 37 11 5021081 5021081 + Missense_Mutation SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:5021081A>G uc010qyu.1 + 1 869 c.869A>G c.(868-870)AAC>AGC p.N290S NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGTCCTTAACCCTATTGTC 0.458 NA 5 43 0 0 0 0 ODZ4 26011 broad.mit.edu 37 11 78413296 78413296 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:78413296G>A uc001ozl.3 - 28 4825 c.4362C>T c.(4360-4362)GAC>GAT p.D1454D ODZ4_uc009yvb.1_Silent_p.D38D NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1454 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GCAGGAAGTGGTCAATGCCAG 0.547 NA 9 41 0 0 0 0 CCDC89 220388 broad.mit.edu 37 11 85396815 85396815 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:85396815C>T uc001pau.1 - 1 506 c.359G>A c.(358-360)CGG>CAG p.R120Q NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 120 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CTCTAGTTTCCGACTGTACTC 0.542 NA 6 103 0 0 0 0 CWF19L2 143884 broad.mit.edu 37 11 107224441 107224441 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:107224441C>G uc010rvp.1 - 13 1924 c.1894G>C c.(1894-1896)GAC>CAC p.D632H CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_Intron NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 632 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GTGTAATAGTCTCCATCTGTT 0.388 NA 14 75 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 9027036 9027036 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:9027036C>G uc001quz.3 + 34 4335 c.4237C>G c.(4237-4239)CAG>GAG p.Q1413E A2ML1_uc001qva.1_Missense_Mutation_p.Q993E|A2ML1_uc010sgm.1_Missense_Mutation_p.Q913E|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1257 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TAAGAACACTCAGACTTACAC 0.433 NA 18 54 0 0 0 0 TM7SF3 51768 broad.mit.edu 37 12 27149786 27149786 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:27149786G>A uc010sjl.1 - 4 645 c.407C>T c.(406-408)CCT>CTT p.P136L NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 136 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) ACAGCCTCCAGGGACAGGATC 0.353 NA 4 22 0 0 0 0 MDM1 56890 broad.mit.edu 37 12 68724993 68724993 + Silent SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:68724993A>G uc001stz.2 - 2 163 c.27T>C c.(25-27)AGT>AGC p.S9S MDM1_uc010stc.1_Silent_p.S9S|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_Silent_p.S9S|MDM1_uc010std.1_Silent_p.S9S NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 9 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TCTGGTATTCACTCAGCCCCT 0.418 NA 9 161 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78400292 78400292 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:78400292C>T uc001syp.2 + 8 1147 c.974C>T c.(973-975)TCT>TTT p.S325F NAV3_uc001syo.2_Missense_Mutation_p.S325F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 325 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCCATCCCTTCTCCAAGTGCC 0.547 NA HNSCC(70;0.22) 14 65 0 0 0 0 STYX 6815 broad.mit.edu 37 14 53223283 53223283 + Missense_Mutation SNP A A T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr14:53223283A>T uc010tqy.1 + 6 319 c.257A>T c.(256-258)GAT>GTT p.D86V STYX_uc001xaa.2_Missense_Mutation_p.D86V NM_001130701 NP_001124173 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 86 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity 0 Breast(41;0.176) TTAGTCCTGGATATTGCAGAT 0.244 NA 8 49 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42111558 42111558 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:42111558G>A uc001zok.3 + 22 2710 c.2424G>A c.(2422-2424)AAG>AAA p.K808K MAPKBP1_uc001zoj.3_Silent_p.K802K|MAPKBP1_uc010bcj.2_Silent_p.K309K|MAPKBP1_uc010bci.2_Silent_p.K802K|MAPKBP1_uc010udb.1_Silent_p.K641K|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.K309K NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 808 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCCTTGCCAAGAGTACCAAGA 0.542 NA 13 116 0 0 0 0 LRRC57 255252 broad.mit.edu 37 15 42839505 42839505 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:42839505G>A uc001zqd.1 - 3 814 c.446C>T c.(445-447)TCA>TTA p.S149L HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.S149L NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 149 LRR 5. 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) CTCTCCCACTGAGTCAGGTAT 0.468 NA 7 84 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85341886 85341886 + Nonsense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:85341886C>G uc002bld.2 + 8 3140 c.2804C>G c.(2803-2805)TCA>TGA p.S935* ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 935 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) GACACATCCTCAAGCCGCCCT 0.632 NA 9 50 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888272 29888272 + Splice_Site SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr16:29888272C>T uc002duq.3 - 12 2150 c.1910_splice c.e12-1 p.E637_splice uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.E567_splice|SEZ6L2_uc002dur.3_Splice_Site_p.E567_splice|SEZ6L2_uc002dus.3_Splice_Site_p.E523_splice|SEZ6L2_uc010vec.1_Splice_Site_p.E637_splice|SEZ6L2_uc010ved.1_Splice_Site_p.E593_splice NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CTCGGGACCTCTGCAGGGGAG 0.652 NA 3 18 0 0 0 0 MYST1 84148 broad.mit.edu 37 16 31138398 31138398 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr16:31138398G>A uc002eay.2 + 4 523 c.505G>A c.(505-507)GAG>AAG p.E169K MYST1_uc002eax.2_Missense_Mutation_p.E169K|MYST1_uc002eaz.2_Missense_Mutation_p.E11K|MYST1_uc002eba.2_5'Flank|MYST1_uc002ebb.2_5'Flank NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 169 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 CTTGGAGAAGGAGCATGAGGC 0.622 NA 13 47 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43175832 43175832 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr17:43175832G>C uc002ihz.2 + 7 814 c.796G>C c.(796-798)GAG>CAG p.E266Q NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 266 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) TCTGATCCGAGAGATCACCAG 0.522 NA 4 127 0 0 0 0 NDUFS7 374291 broad.mit.edu 37 19 1387822 1387822 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:1387822G>A uc002lse.3 + 2 72 c.29G>A c.(28-30)CGC>CAC p.R10H NDUFS7_uc002lsf.2_Missense_Mutation_p.R74H|NDUFS7_uc002lsh.2_Missense_Mutation_p.R74H|NDUFS7_uc002lsg.2_5'UTR NM_024407 NP_077718 O75251 NDUS7_HUMAN NADH-ubiquinone oxidoreductase Fe-S protein 7 10 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) CCTGGCCTGCGCGGCTTCCGG 0.711 NA 9 41 0 0 0 0 ATP8B3 148229 broad.mit.edu 37 19 1802615 1802615 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:1802615G>A uc002ltw.2 - 11 1168 c.934C>T c.(934-936)CGG>TGG p.R312W ATP8B3_uc002ltv.2_Missense_Mutation_p.R259W|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.R60W|ATP8B3_uc002ltz.1_Missense_Mutation_p.R259W NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 312 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGCATCCGACTGTTAGGC 0.612 NA 7 20 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8152087 8152087 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:8152087C>T uc002mjf.2 - 53 6649 c.6628G>A c.(6628-6630)GAG>AAG p.E2210K FBN3_uc002mje.2_Missense_Mutation_p.E49K NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2210 EGF-like 36; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TCTGCACACTCGTCCACATCT 0.632 NA 6 54 0 0 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742817 10742817 + Silent SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:10742817C>T uc002mpf.2 + 10 947 c.808C>T c.(808-810)CTG>TTG p.L270L SLC44A2_uc002mpe.3_Silent_p.L268L|SLC44A2_uc002mpg.1_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 270 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CATGGTGATTCTGGTGCTGGG 0.562 NA 5 131 0 0 0 0 LILRB2 10288 broad.mit.edu 37 19 54782209 54782209 + Nonsense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:54782209G>C uc002qfb.2 - 7 1429 c.1163C>G c.(1162-1164)TCA>TGA p.S388* LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Nonsense_Mutation_p.S388*|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Nonsense_Mutation_p.S388*|LILRB2_uc010yet.1_Nonsense_Mutation_p.S272*|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 388 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGCGTGGGCTGAGGTCACAGG 0.592 NA 4 158 0 0 0 0 CHRND 1144 broad.mit.edu 37 2 233393036 233393036 + Missense_Mutation SNP T T C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr2:233393036T>C uc002vsw.2 + 4 312 c.308T>C c.(307-309)CTC>CCC p.L103P CHRND_uc010zmg.1_Missense_Mutation_p.L88P|CHRND_uc010fyc.2_Missense_Mutation_p.S13P|CHRND_uc010zmh.1_Missense_Mutation_p.S13P NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 103 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GTCCTGCGCCTCCCCCCGGAC 0.567 NA 3 56 0 0 0 0 DIP2A 23181 broad.mit.edu 37 21 47959793 47959793 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr21:47959793C>T uc002zjo.2 + 17 2108 c.1925C>T c.(1924-1926)TCG>TTG p.S642L DIP2A_uc011afy.1_Missense_Mutation_p.S578L|DIP2A_uc011afz.1_Missense_Mutation_p.S638L|DIP2A_uc002zjl.2_Missense_Mutation_p.S642L|DIP2A_uc002zjm.2_Missense_Mutation_p.S642L|DIP2A_uc010gql.2_Missense_Mutation_p.S599L|DIP2A_uc002zjn.2_Missense_Mutation_p.S642L|DIP2A_uc002zjp.1_Missense_Mutation_p.S387L|DIP2A_uc002zjq.2_Missense_Mutation_p.S34L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 642 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGTGCAGGGTCGATCTCCTCC 0.597 NA 33 72 0 0 0 0 MTMR14 64419 broad.mit.edu 37 3 9726305 9726305 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:9726305G>C uc003brz.2 + 11 1125 c.1001G>C c.(1000-1002)TGG>TCG p.W334S MTMR14_uc003bsa.2_Missense_Mutation_p.W334S|MTMR14_uc003bsb.2_Missense_Mutation_p.W334S|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.W88S|MTMR14_uc003bsc.2_RNA NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 334 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) ATCTCAGGCTGGGATCGGACC 0.577 NA 4 80 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39230859 39230859 + Silent SNP T T G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:39230859T>G uc003cjk.1 - 2 299 c.78A>C c.(76-78)CCA>CCC p.P26P XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 26 Interaction with VASP.|Poly-Pro. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTGGGGGTGGAGGGAGGG 0.637 NA 5 22 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42679772 42679772 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:42679772G>A uc003clo.2 + 13 2723 c.2576G>A c.(2575-2577)AGA>AAA p.R859K NKTR_uc003clm.1_Missense_Mutation_p.R606K|NKTR_uc003clp.2_Missense_Mutation_p.R606K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R749K|NKTR_uc003clr.1_Missense_Mutation_p.R606K|NKTR_uc003cls.2_Missense_Mutation_p.R559K NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 859 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TCAAAAAAAAGAACTTTGAAA 0.373 NA 7 49 0 0 0 0 STAB1 23166 broad.mit.edu 37 3 52544478 52544478 + Silent SNP T T C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:52544478T>C uc003dej.2 + 25 2816 c.2742T>C c.(2740-2742)GGT>GGC p.G914G NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 914 Extracellular (Potential).|EGF-like 8. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACATGAGAGGTGGCTGCCACA 0.647 NA 16 33 0 0 0 0 PEX5L 51555 broad.mit.edu 37 3 179525565 179525565 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:179525565C>T uc003fki.1 - 14 1703 c.1573G>A c.(1573-1575)GAG>AAG p.E525K PEX5L_uc011bqd.1_Missense_Mutation_p.E482K|PEX5L_uc011bqe.1_Missense_Mutation_p.E333K|PEX5L_uc011bqf.1_Missense_Mutation_p.E417K|PEX5L_uc003fkj.1_Missense_Mutation_p.E490K|PEX5L_uc010hxd.1_Missense_Mutation_p.E523K|PEX5L_uc011bqg.1_Missense_Mutation_p.E501K|PEX5L_uc011bqh.1_Missense_Mutation_p.E466K NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 525 TPR 4. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ACGGCTTCCTCGCTGCGGTCT 0.537 NA 28 227 0 0 0 0 AMBN 258 broad.mit.edu 37 4 71467197 71467197 + Silent SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr4:71467197A>G uc003hfl.2 + 6 432 c.357A>G c.(355-357)CAA>CAG p.Q119Q NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 119 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) TGAAGCCTCAACAGCCAGGAC 0.502 NA OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 146 0 0 0 0 GPX8 493869 broad.mit.edu 37 5 54456872 54456872 + Missense_Mutation SNP T T G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:54456872T>G uc003jpq.2 + 2 292 c.255T>G c.(253-255)AAT>AAG p.N85K CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.N34K NM_001008397 NP_001008398 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 85 response to oxidative stress integral to membrane glutathione peroxidase activity 0 Glutathione(DB00143) CAGACAGAAATTACTTAGGGC 0.463 NA 13 35 0 0 0 0 AP3B1 8546 broad.mit.edu 37 5 77590312 77590312 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:77590312G>A uc003kfj.2 - 1 217 c.92C>T c.(91-93)TCG>TTG p.S31L NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 31 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GAAGGCCCCCGAGGGGGAAAT 0.607 NA Hermansky-Pudlak_syndrome 12 73 0 0 0 0 BRD8 10902 broad.mit.edu 37 5 137500599 137500599 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:137500599G>A uc003lcf.1 - 12 1590 c.1535C>T c.(1534-1536)CCT>CTT p.P512L BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.P291L|BRD8_uc003lcg.2_Missense_Mutation_p.P585L|BRD8_uc003lci.2_Missense_Mutation_p.P515L|BRD8_uc003lch.2_Missense_Mutation_p.P406L|BRD8_uc011cym.1_Missense_Mutation_p.P496L|BRD8_uc010jer.1_Missense_Mutation_p.P481L|BRD8_uc011cyn.1_Missense_Mutation_p.P471L NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 512 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGGTTCTGCAGGTTCCACCTT 0.502 NA 6 122 0 0 0 0 FAM53C 51307 broad.mit.edu 37 5 137680937 137680937 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:137680937G>A uc003lcv.2 + 4 1030 c.560G>A c.(559-561)AGA>AAA p.R187K FAM53C_uc003lcw.2_Missense_Mutation_p.R187K|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 187 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGCTCACAGACCCTACAGC 0.642 NA 43 213 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176687121 176687121 + Nonsense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:176687121C>T uc003mfr.3 + 14 5236 c.5098C>T c.(5098-5100)CGA>TGA p.R1700* NSD1_uc003mft.3_Nonsense_Mutation_p.R1431*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1597*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1348* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1700 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCGGGGCTGCCGAAATCATGA 0.433 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 5 59 0 0 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033429 26033429 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:26033429C>G uc003nft.1 - 1 368 c.368G>C c.(367-369)AGC>ACC p.S123T HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 123 nucleosome assembly nucleosome|nucleus DNA binding 0 CTTATGATGGCTCTCAGTTTT 0.478 NA 9 68 0 0 0 0 ZNF76 7629 broad.mit.edu 37 6 35262305 35262305 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:35262305G>A uc003oki.1 + 13 1772 c.1567G>A c.(1567-1569)GCA>ACA p.A523T ZNF76_uc003okj.1_Missense_Mutation_p.A468T NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 523 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCAACAGGTGGCACTGTTGGC 0.517 NA OREG0017373 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 56 0 0 0 0 PRPH2 5961 broad.mit.edu 37 6 42689524 42689524 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:42689524G>A uc003osk.2 - 1 835 c.549C>T c.(547-549)CGC>CGT p.R183R NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 183 Lumenal (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGTCCAGGTAGCGATTGCTGA 0.493 NA 18 141 0 0 0 0 TJAP1 93643 broad.mit.edu 37 6 43472753 43472753 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:43472753G>A uc003ovd.2 + 11 1210 c.834G>A c.(832-834)CCG>CCA p.P278P TJAP1_uc003ovf.2_Silent_p.P268P|TJAP1_uc003ove.2_Silent_p.P268P|TJAP1_uc003ovc.2_Silent_p.P268P|TJAP1_uc010jyp.2_Silent_p.P237P|TJAP1_uc011dvh.1_Silent_p.P268P|TJAP1_uc003ovg.2_Silent_p.P144P|TJAP1_uc011dvi.1_Silent_p.P278P|TJAP1_uc011dvj.1_Silent_p.P78P|TJAP1_uc003ovi.2_Silent_p.P144P NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 278 Pro-rich. Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCAGTCCCCCGGCCCCTGGCA 0.657 NA 9 52 0 0 0 0 ECT2L 345930 broad.mit.edu 37 6 139167812 139167812 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:139167812G>A uc003qif.1 + 6 1004 c.901G>A c.(901-903)GAG>AAG p.E301K ECT2L_uc011edq.1_Missense_Mutation_p.E232K NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 301 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TCCTGCGTATGAGGTAGAGTA 0.398 NA 7 273 0 0 0 0 AKAP12 9590 broad.mit.edu 37 6 151670504 151670504 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:151670504G>C uc011eep.1 + 4 1218 c.978G>C c.(976-978)AAG>AAC p.K326N AKAP12_uc003qoe.2_Missense_Mutation_p.K326N|AKAP12_uc003qof.2_Missense_Mutation_p.K228N|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.K221N NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 326 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CTTCAGAGAAGAAAAAGGAAC 0.507 NA 10 45 0 0 0 0 CYTH3 9265 broad.mit.edu 37 7 6226735 6226735 + Silent SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr7:6226735C>T uc003spt.2 - 4 299 c.195G>A c.(193-195)CAG>CAA p.Q65Q NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 65 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 GTTTGTTCCTCTGAGTCGTTT 0.443 NA 28 156 0 0 0 0 LINGO2 158038 broad.mit.edu 37 9 27949880 27949880 + Missense_Mutation SNP C C A rs148104069 TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:27949880C>A uc003zqu.1 - 2 984 c.790G>T c.(790-792)GTA>TTA p.V264L LINGO2_uc010mjf.1_Missense_Mutation_p.V264L|LINGO2_uc003zqv.1_Missense_Mutation_p.V264L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 264 LRR 9.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGAAGGGTACAGTAGACAGA 0.463 NA 26 124 1.74e-06 1.47e-05 1 0 GOLM1 51280 broad.mit.edu 37 9 88650358 88650358 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:88650358C>G uc004aol.2 - 8 1138 c.940G>C c.(940-942)GAG>CAG p.E314Q GOLM1_uc004aom.2_Missense_Mutation_p.E314Q NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 314 Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 CCCTCCATCTCTGGATTTTCC 0.642 NA OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 131 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119382714 119382714 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:119382714C>G uc004bjs.1 - 18 3182 c.3081G>C c.(3079-3081)AAG>AAC p.K1027N ASTN2_uc004bjr.1_Missense_Mutation_p.K1023N|ASTN2_uc004bjt.1_Missense_Mutation_p.K976N|ASTN2_uc004bjp.1_Missense_Mutation_p.K120N|ASTN2_uc004bjq.1_Missense_Mutation_p.K79N|ASTN2_uc011lxr.1_Missense_Mutation_p.K79N|ASTN2_uc011lxs.1_Missense_Mutation_p.K79N|ASTN2_uc011lxt.1_Missense_Mutation_p.K79N|ASTN2_uc004bjv.1_Missense_Mutation_p.K79N NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1027 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCAGTGCACTCTTGAAGGCCT 0.507 NA 34 150 0 0 0 0 BCOR 54880 broad.mit.edu 37 X 39923017 39923017 + Missense_Mutation SNP G G A rs147934033 TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chrX:39923017G>A uc004den.3 - 8 3983 c.3691C>T c.(3691-3693)CGG>TGG p.R1231W BCOR_uc004dep.3_Missense_Mutation_p.R1197W|BCOR_uc004deo.3_Missense_Mutation_p.R1179W|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Missense_Mutation_p.R1197W NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1231 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTGCTTTGCCGGCCAGGTTTG 0.547 NA 4 83 0 0 0 0 AWAT1 158833 broad.mit.edu 37 X 69458123 69458123 + Silent SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chrX:69458123C>T uc004dxy.2 + 5 563 c.522C>T c.(520-522)CTC>CTT p.L174L NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 174 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity ovary(3) 3 CTGGCAACCTCGTGGGCATTG 0.572 NA 10 31 0 0 0 0 SPANXE 171489 broad.mit.edu 37 X 140786496 140786496 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chrX:140786496C>T uc004fbq.2 - 1 160 c.67G>A c.(67-69)GAG>AAG p.E23K NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN SPANX family, member E 23 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) CTTACCATCTCGTTGGCCTCG 0.299 NA 26 43 0 0 0 0 UEVLD 55293 broad.mit.edu 37 11 18557990 18557992 + In_Frame_Del DEL CTT CTT - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:18557990_18557992delCTT uc001mot.2 - 10 1165_1167 c.1085_1087delAAG c.(1084-1089)GAAGTA>GTA p.E362del UEVLD_uc001mou.2_In_Frame_Del_p.E362del|UEVLD_uc010rde.1_In_Frame_Del_p.E232del|UEVLD_uc010rdf.1_In_Frame_Del_p.E340del|UEVLD_uc010rdg.1_In_Frame_Del_p.E232del|UEVLD_uc001mov.2_In_Frame_Del_p.E340del NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 362 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 TGACTCACTACTTCTTCTTGGCC 0.374 NA 20 76 --- --- --- --- NA NA NA NA IL25 64806 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr14:23845057_23845058delTG uc001wjr.2 + 2 812_813 c.502_503delTG c.(502-504)TGTfs p.C168fs IL25_uc001wjq.2_Frame_Shift_Del_p.C152fs|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank NM_022789 NP_073626 Q9H293 IL25_HUMAN interleukin 25 isoform 1 precursor 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding ovary(1) 1 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 NA 7 119 --- --- --- --- NA NA NA NA SCN2A 6326 broad.mit.edu 37 2 166170610 166170610 + Frame_Shift_Del DEL G G - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr2:166170610delG uc002udc.2 + 10 1665 c.1375delG c.(1375-1377)GAAfs p.E459fs SCN2A_uc002udd.2_Frame_Shift_Del_p.E459fs|SCN2A_uc002ude.2_Frame_Shift_Del_p.E459fs NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 459 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GCAACAAGAAGAAGCTCAGGT 0.408 NA 7 31 --- --- --- --- NA NA NA NA