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_alt_allele validation_method validation_status validation_tumor_sample PARS2 25973 broad.mit.edu 37 1 55224300 55224300 + Missense_Mutation SNP A A G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr1:55224300A>G ENST00000371279.3 - 2 617 c.535T>C c.(535-537)Ttc>Ctc p.F179L NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 179 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) TACAGCAGGAAGGGAAGCTGC 0.512 4 91 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61456734 61456734 + Missense_Mutation SNP C C G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr2:61456734C>G ENST00000398571.2 - 59 7224 c.7148G>C c.(7147-7149)aGg>aCg p.R2383T NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2383 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGGTCTCAGCCTCTGAATCAC 0.388 5 141 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514387 113514387 + Missense_Mutation SNP G G T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr2:113514387G>T ENST00000541405.1 - 4 589 c.66C>A c.(64-66)aaC>aaA p.N22K CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 187 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TATCGAGCAAGTTCTCTTTGT 0.323 5 30 --- --- --- --- EPB41L5 57669 broad.mit.edu 37 2 120847945 120847945 + Missense_Mutation SNP T T G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr2:120847945T>G ENST00000263713.5 + 12 1110 c.896T>G c.(895-897)tTt>tGt p.F299C EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 299 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 GAACATACATTTGTCTTTAGA 0.383 20 56 --- --- --- --- FZD7 8324 broad.mit.edu 37 2 202899587 202899587 + Missense_Mutation SNP C C G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr2:202899587C>G ENST00000286201.1 + 1 278 c.217C>G c.(217-219)Cac>Gac p.H73D NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 73 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CCTGCTGGGCCACACGAACCA 0.612 9 23 --- --- --- --- LRRN1 57633 broad.mit.edu 37 3 3887996 3887996 + Silent SNP G G T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr3:3887996G>T ENST00000319331.3 + 2 2432 c.1671G>T c.(1669-1671)tcG>tcT p.S557S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 557 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TAAAATGGTCGTCTGCCACCA 0.443 9 191 --- --- --- --- APBB2 323 broad.mit.edu 37 4 40829194 40829194 + Missense_Mutation SNP A A G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr4:40829194A>G ENST00000295974.8 - 14 2313 c.1684T>C c.(1684-1686)Tcc>Ccc p.S562P APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 562 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 TCCTGTAAGGAGCTGCAGGCC 0.532 7 84 --- --- --- --- HIST1H2AE 3012 broad.mit.edu 37 6 26217407 26217407 + Missense_Mutation SNP A A C TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr6:26217407A>C ENST00000303910.2 + 1 243 c.205A>C c.(205-207)Aac>Cac p.N69H NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 69 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) GCTAGCTGGCAACGCGGCTCG 0.602 5 32 --- --- --- --- ZSCAN25 221785 broad.mit.edu 37 7 99217321 99217321 + Missense_Mutation SNP G G C TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr7:99217321G>C ENST00000394152.2 + 4 419 c.92G>C c.(91-93)aGa>aCa p.R31T ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 CCATGGGGCAGAGGAAGGGAG 0.557 7 167 --- --- --- --- ADRA1A 148 broad.mit.edu 37 8 26623613 26623613 + Silent SNP A A G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr8:26623613A>G ENST00000354550.4 - 3 1522 c.1323T>C c.(1321-1323)caT>caC p.H441H ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron NM_033304.2 NP_150647.2 P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TAAAATTCACATGCTTGATAT 0.443 14 61 --- --- --- --- OC90 729330 broad.mit.edu 37 8 133053367 133053367 + Silent SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr8:133053367G>A ENST00000262283.5 - 9 1068 c.969C>T c.(967-969)gcC>gcT p.A323A OC90_ENST00000443356.2_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A Q02509 OC90_HUMAN otoconin 90 127 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.A133A(1)|p.A323A(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCATCTCAGCGGCCTCCTCAT 0.577 14 87 --- --- --- --- CYP2C19 1557 broad.mit.edu 37 10 96580307 96580307 + Missense_Mutation SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr10:96580307G>A ENST00000371321.3 + 6 956 c.874G>A c.(874-876)Gct>Act p.A292T CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 292 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.A292P(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AATCACTGCAGCTGACTTACT 0.418 5 80 --- --- --- --- C11orf42 160298 broad.mit.edu 37 11 6231080 6231080 + Splice_Site SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr11:6231080G>A ENST00000316375.2 + 2 123 c.73G>A c.(73-75)Gtc>Atc p.V25I NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 25 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACCTGCAGGTCATCGAGGA 0.507 5 68 --- --- --- --- MRGPRX1 259249 broad.mit.edu 37 11 18956163 18956163 + Missense_Mutation SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr11:18956163G>A ENST00000302797.3 - 1 393 c.169C>T c.(169-171)Cgc>Tgc p.R57C MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 57 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCGTTCCTGCGCATGCGGCAG 0.557 4 150 --- --- --- --- BDNF 627 broad.mit.edu 37 11 27679584 27679584 + Silent SNP T T C TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr11:27679584T>C ENST00000525528.1 - 1 1621 c.528A>G c.(526-528)caA>caG p.Q176Q BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000532965.1_RNA NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 176 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 ATTGCTTCAGTTGGCCTTTTG 0.502 11 115 --- --- --- --- STT3A 3703 broad.mit.edu 37 11 125483004 125483004 + Missense_Mutation SNP G G T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr11:125483004G>T ENST00000392708.4 + 13 1645 c.1486G>T c.(1486-1488)Gat>Tat p.D496Y STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 496 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CCGTGGTGGGGATGGCAGTAG 0.483 7 73 --- --- --- --- COMMD6 170622 broad.mit.edu 37 13 76104276 76104276 + Missense_Mutation SNP A A G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr13:76104276A>G ENST00000377615.3 - 4 345 c.181T>C c.(181-183)Ttt>Ctt p.F61L COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L Q7Z4G1 COMD6_HUMAN COMM domain containing 6 61 COMM. cytoplasm|nucleus protein binding breast(1)|lung(1)|urinary_tract(1) 3 Breast(118;0.0979)|Prostate(6;0.122) GBM - Glioblastoma multiforme(99;0.0104) GTCATTTCAAAGCACTTGGTC 0.378 4 77 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24642195 24642195 + Silent SNP C C T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr14:24642195C>T ENST00000311457.3 + 4 812 c.213C>T c.(211-213)gcC>gcT p.A71A REC8_ENST00000559919.1_Silent_p.A71A O95072 REC8_HUMAN REC8 meiotic recombination protein 71 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) ATCTCTCAGCCCAACTTCAGA 0.602 6 36 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72054926 72054926 + Missense_Mutation SNP A A T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr14:72054926A>T ENST00000555818.1 + 2 685 c.337A>T c.(337-339)Agc>Tgc p.S113C SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 113 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GTCCTCCAAAAGCAGTCCTGT 0.453 7 84 --- --- --- --- NRXN3 9369 broad.mit.edu 37 14 79181239 79181239 + Missense_Mutation SNP G G T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr14:79181239G>T ENST00000554719.1 + 5 1173 c.682G>T c.(682-684)Gcc>Tcc p.A228S NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTGTGGACTGCCATGCTCAA 0.592 3 37 --- --- --- --- NEDD4 4734 broad.mit.edu 37 15 56126282 56126282 + Missense_Mutation SNP T T C TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr15:56126282T>C ENST00000508342.1 - 22 3940 c.3641A>G c.(3640-3642)aAa>aGa p.K1214R NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R NM_001284338.1 NP_001271267.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1214 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GTAGCCATTTTTATACTTTGT 0.308 13 59 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99467806 99467806 + Missense_Mutation SNP A A C TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr15:99467806A>C ENST00000268035.6 + 13 3286 c.2675A>C c.(2674-2676)aAg>aCg p.K892T IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 892 Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGAGGGGCCAAGCTAAACCGG 0.498 22 64 --- --- --- --- ZNF516 9658 broad.mit.edu 37 18 74091976 74091976 + Silent SNP T T A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr18:74091976T>A ENST00000443185.2 - 4 2411 c.2094A>T c.(2092-2094)ggA>ggT p.G698G ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGCCCTCCGCTCCCGTACTGG 0.587 6 36 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430555 12430555 + Missense_Mutation SNP C C A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr19:12430555C>A ENST00000293725.5 - 4 489 c.284G>T c.(283-285)aGc>aTc p.S95I ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 95 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGGACAAATGCTGTTGTTCAC 0.398 4 129 --- --- --- --- SIGLEC10 89790 broad.mit.edu 37 19 51918364 51918364 + Splice_Site SNP T T G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr19:51918364T>G ENST00000356298.5 - 8 1447 c.e8-2 SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TCGGGGAGTCTGAGGGGAGGG 0.682 3 14 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59060745 59060745 + Silent SNP G G A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr19:59060745G>A ENST00000253024.5 + 13 1999 c.1710G>A c.(1708-1710)gaG>gaA p.E570E TRIM28_ENST00000341753.6_Silent_p.E488E NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 570 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTGCCACTGAGGGCCCTGAGA 0.637 33 76 --- --- --- --- CYP2D6 1565 broad.mit.edu 37 22 42525129 42525129 + Silent SNP G G T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr22:42525129G>T ENST00000360608.5 - 3 525 c.411C>A c.(409-411)tcC>tcA p.S137S CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA NM_000106.5 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 137 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGCGCAAGGTGGAGACGGAGA 0.687 3 33 --- --- --- --- MXRA5 25878 broad.mit.edu 37 X 3240572 3240572 + Missense_Mutation SNP C C T TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chrX:3240572C>T ENST00000217939.6 - 5 3308 c.3154G>A c.(3154-3156)Gac>Aac p.D1052N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1052 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGTAAGGTGTCTTGAGTGCTT 0.458 6 33 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314095 135314095 + Missense_Mutation SNP C C A TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chrX:135314095C>A ENST00000316077.9 - 8 1241 c.1021G>T c.(1021-1023)Gtg>Ttg p.V341L MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 341 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCCACGCTCACCACAGGGAAT 0.572 8 35 --- --- --- --- LACE1 246269 broad.mit.edu 37 6 108768474 108768474 + Frame_Shift_Del DEL C C - TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr6:108768474delC ENST00000368977.4 + 8 1051 c.865delC c.(865-867)cctfs p.P289fs NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 289 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AAGGGAACTTCCTGCTGCAGG 0.328 7 92 --- --- --- --- NEURL4 84461 broad.mit.edu 37 17 7227518 7227519 + Frame_Shift_Del DEL CT CT - TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc0e886d-8203-4ef9-b1b2-ca28644c13d0 0b70f94f-f1c7-406b-b91b-3293c29e666b g.chr17:7227518_7227519delCT ENST00000399464.2 - 11 1985_1986 c.1970_1971delAG c.(1969-1971)cagfs p.Q657fs NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGCAGGGCCCTGAGTCATCCC 0.653 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 57 --- --- --- ---