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 pox qox pox_cutoff isArtifactMode oxoGCut TRIOBP 11078 broad.mit.edu 37 22 38121491 38121491 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr22:38121491C>T ENST00000406386.3 + 7 3183 c.2928C>T c.(2926-2928)gcC>gcT p.A976A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 976 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCCCGGGCCACCTCTTCCT 0.637000 5 284 0 0 1 0 0 FTSJD2 0 broad.mit.edu 37 6 37426394 37426394 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr6:37426394C>T ENST00000373451.4 + 9 948 c.784C>T c.(784-786)Ctg>Ttg p.L262L NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 262 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 GCAGAAGCCACTGGTGAAGGA 0.522000 13 22 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090966 115090966 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr13:115090966T>C ENST00000361283.1 + 3 1958 c.1649T>C c.(1648-1650)cTt>cCt p.L550P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 550 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAACGTGCCCTTTTTCCAGAG 0.517000 4 328 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41204550 41204550 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:41204550G>A ENST00000372652.1 + 2 303 c.35G>A c.(34-36)aGc>aAc p.S12N NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 12 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GGTACTAGCAGCAGTGATGCC 0.418000 3 65 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 74 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384212 25384212 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr2:25384212G>A ENST00000405623.1 - 3 997 c.542C>T c.(541-543)aCt>aTt p.T181I POMC_ENST00000395826.2_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I|POMC_ENST00000264708.3_Missense_Mutation_p.T181I P01189 COLI_HUMAN proopiomelanocortin 181 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TCGCTGGCCAGTCAGCTCCCT 0.711000 3 10 0 0 1 0 0 C3orf79 152118 broad.mit.edu 37 3 153202433 153202433 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr3:153202433A>C ENST00000446603.2 + 1 150 c.88A>C c.(88-90)Act>Cct p.T30P RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 30 endometrium(1)|large_intestine(3) 4 TCTTCTGCCTACTCCTGAGCT 0.433000 124 154 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41272519 41272519 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:41272519G>T ENST00000361937.3 - 36 4997 c.4573C>A c.(4573-4575)Cct>Act p.P1525T INO80_ENST00000401393.3_Missense_Mutation_p.P1525T Q9ULG1 INO80_HUMAN INO80 complex subunit 1525 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGATTCCCAGGAACATTATTT 0.557000 29 43 5.61819e-17 6.86667e-17 1 1 0 FOXA1 3169 broad.mit.edu 37 14 38061229 38061229 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr14:38061229A>C ENST00000250448.2 - 2 821 c.760T>G c.(760-762)Ttc>Gtc p.F254V FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGTTCTCGAACATGTTGCCG 0.692000 10 16 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411650 32411650 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr6:32411650G>A ENST00000395388.2 + 4 837 c.728G>A c.(727-729)cGc>cAc p.R243H HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 243 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 AAGGGATTGCGCAAAAGCAAT 0.537000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 39 46 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104151 53104151 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:53104151G>A ENST00000408890.4 + 1 803 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 263 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGCCCCATCCGCCATCTGGGA 0.662000 53 34 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74474079 74474079 + Missense_Mutation SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr3:74474079A>T ENST00000263665.6 - 4 398 c.371T>A c.(370-372)tTt>tAt p.F124Y NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 124 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTTGGTTTTAAAATTTTCAAG 0.398000 8 11 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19735327 19735327 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr11:19735327C>A ENST00000396085.1 + 1 447 c.86C>A c.(85-87)cCg>cAg p.P29Q NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 29 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CACGTgcccccggcccgggcg 0.657000 9 16 0.000274275 0.00030786 1 1 0 NETO1 81832 broad.mit.edu 37 18 70461444 70461444 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr18:70461444C>A ENST00000327305.6 - 6 1204 c.547G>T c.(547-549)Gtg>Ttg p.V183L NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 183 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATAGACTCCACAATTCCTTCG 0.433000 3 58 1 1 1 1 0 C16orf3 750 broad.mit.edu 37 16 90095617 90095617 + Missense_Mutation SNP G G C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr16:90095617G>C ENST00000408886.2 - 1 692 c.134C>G c.(133-135)gCc>gGc p.A45G GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 45 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) tacggggcaggctacggggca 0.677000 3 9 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 50 0 0 1 0 0 VPS33B 26276 broad.mit.edu 37 15 91549633 91549633 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:91549633C>A ENST00000333371.3 - 11 1174 c.821G>T c.(820-822)aGc>aTc p.S274I VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 274 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CACCTTCAGGCTCTTGTCAGA 0.562000 4 106 1 1 1 1 0 CEP41 95681 broad.mit.edu 37 7 130042551 130042551 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:130042551C>A ENST00000223208.4 - 7 782 c.512G>T c.(511-513)tGc>tTc p.C171F CEP41_ENST00000541543.1_Missense_Mutation_p.C155F|CEP41_ENST00000343969.5_Missense_Mutation_p.C171F NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 171 Rhodanese. G2/M transition of mitotic cell cycle centrosome|cytosol CAGGAAGGGGCAGTCAGGATA 0.488000 4 247 0.00024832 0.000284533 1 1 0 MUC16 94025 broad.mit.edu 37 19 9057080 9057080 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:9057080G>T ENST00000397910.4 - 3 30569 c.30366C>A c.(30364-30366)atC>atA p.I10122I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10124 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCCGAGTGGATTGAAACAG 0.463000 15 32 2.62699e-14 3.14096e-14 1 1 0 MUC17 140453 broad.mit.edu 37 7 100679978 100679978 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:100679978G>A ENST00000306151.4 + 3 5345 c.5281G>A c.(5281-5283)Gta>Ata p.V1761I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1761 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCACGCCGGTACTCAGTTC 0.502000 5 610 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47758292 47758292 + Splice_Site SNP G G C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr11:47758292G>C ENST00000263773.5 - 9 1469 c.1456_splice c.e9-1 p.A486_splice FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 486 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 AGCACCAATTGCTGTAAAAAA 0.303000 3 0 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 3 31 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928671 10928671 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr6:10928671C>T ENST00000283141.6 + 18 1772 c.1476C>T c.(1474-1476)ttC>ttT p.F492F RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 492 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) tccctgacttcccgcaacaAC 0.498000 24 25 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972803 110972803 + Silent SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr4:110972803T>C ENST00000394607.3 - 5 652 c.489A>G c.(487-489)ggA>ggG p.G163G ELOVL6_ENST00000302274.3_Silent_p.G163G Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 163 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TGAACCAACCTCCCCCGGCAA 0.517000 3 53 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344742 159344742 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr5:159344742G>A ENST00000306675.3 + 1 953 c.830G>A c.(829-831)aGt>aAt p.S277N NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 277 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AACCCCAGGAGTTCCATAGCT 0.502000 3 118 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3990593 3990593 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:3990593G>T ENST00000404826.2 + 6 1025 c.886G>T c.(886-888)Gtg>Ttg p.V296L SDK1_ENST00000389531.3_Missense_Mutation_p.V296L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 296 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCAACCATTGTGGTTCCCCC 0.552000 30 49 2.42023e-17 3.09565e-17 1 1 0 DOCK7 85440 broad.mit.edu 37 1 62941378 62941378 + Splice_Site SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:62941378C>G ENST00000251157.5 - 45 5961 c.5928_splice c.e45+1 p.E1976_splice DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1987 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATGGACTTACCTCTTCTTTAT 0.378000 48 72 0 0 1 0 0 C16orf3 750 broad.mit.edu 37 16 90095609 90095609 + Missense_Mutation SNP C C T rs76322535 TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr16:90095609C>T ENST00000408886.2 - 1 700 c.142G>A c.(142-144)Gta>Ata p.V48I GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 48 Missing (in short isoform). large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) gggcagcctacggggcaggct 0.672000 3 8 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 31 0 0 1 0 0 PPP1R42 286187 broad.mit.edu 37 8 67922953 67922953 + Silent SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr8:67922953C>G ENST00000522909.1 - 5 733 c.549G>C c.(547-549)gtG>gtC p.V183V PPP1R42_ENST00000324682.5_Silent_p.V183V Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 183 ACACTACCTTCACATGCAGAA 0.254000 11 69 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29393810 29393810 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:29393810G>T ENST00000558402.1 + 11 1946 c.1347G>T c.(1345-1347)atG>atT p.M449I APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 449 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGGAAACCATGATGGACCACG 0.577000 3 26 1 1 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13700941 13700941 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr5:13700941T>C ENST00000265104.4 - 78 13635 c.13531A>G c.(13531-13533)Atg>Gtg p.M4511V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4511 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAAGCACCATATTGTCCAGA 0.463000 Kartagener syndrome 138 70 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38016273 38016273 + Missense_Mutation SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chrX:38016273A>T ENST00000378533.3 - 8 1071 c.965T>A c.(964-966)gTc>gAc p.V322D SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 322 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 ACCCACATTGACGTTCATGGC 0.478000 7 30 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67079329 67079329 + Missense_Mutation SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr11:67079329C>T ENST00000308127.4 + 14 2129 c.1951C>T c.(1951-1953)Cat>Tat p.H651Y SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 651 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCAGCGTGCATGACAGTGG 0.637000 37 47 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34255095 34255095 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr9:34255095G>A ENST00000379166.2 - 12 4060 c.3941C>T c.(3940-3942)aCg>aTg p.T1314M KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1314 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GCTCATCAGCGTCTCCTCCTT 0.527000 3 15 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201938 248201938 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:248201938G>T ENST00000366479.2 + 1 465 c.369G>T c.(367-369)gtG>gtT p.V123V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATCGTTATGTGGCCATTTGCT 0.438000 57 62 2.3441e-25 3.14452e-25 1 1 0 GTF2B 2959 broad.mit.edu 37 1 89319013 89319013 + Silent SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:89319013A>T ENST00000370500.5 - 7 952 c.834T>A c.(832-834)gcT>gcA p.A278A NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 278 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) CAGCAACACCAGCAATATCTC 0.398000 49 59 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131193524 131193524 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr9:131193524G>A ENST00000372842.1 + 10 4055 c.911G>A c.(910-912)cGc>cAc p.R304H CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 382 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TACTCGGGCCGCACTCTGACC 0.627000 4 150 0 0 1 0 0 TRBV2 0 broad.mit.edu 37 7 142000833 142000833 + RNA SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:142000833C>A ENST00000455382.2 + 0 87 GGATACCTGGCTCGTATGCTG 0.478000 33 85 3.4345e-17 4.29312e-17 1 1 0 PYROXD2 84795 broad.mit.edu 37 10 100150769 100150769 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr10:100150769T>C ENST00000370575.4 - 11 1181 c.1133A>G c.(1132-1134)aAt>aGt p.N378S PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 378 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 CCTCTTACCATTGATCTTGGT 0.547000 10 166 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41858655 41858655 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:41858655G>T ENST00000221930.5 - 1 1161 c.295C>A c.(295-297)Cct>Act p.P99T TMEM91_ENST00000539627.1_Intron NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 99 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) TCGGCCTCAGGCTCGGGCTCC 0.731000 OREG0025483 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 1.99824e-07 2.33836e-07 1 1 0 CSNK2A2 1459 broad.mit.edu 37 16 58198010 58198010 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr16:58198010C>A ENST00000262506.3 - 11 1201 c.1018G>T c.(1018-1020)Gct>Tct p.A340S CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 340 axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GAAAGCACAGCATTGTCTGCA 0.527000 3 40 1 1 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43620821 43620821 + Silent SNP A A G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:43620821A>G ENST00000305641.5 - 1 1982 c.1867T>C c.(1867-1869)Ttg>Ctg p.L623L LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 623 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TCAGAGCTCAATCCTGTAGTC 0.443000 42 34 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140267454 140267454 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr9:140267454G>A ENST00000340951.4 - 5 560 c.365C>T c.(364-366)gCg>gTg p.A122V EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 122 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CAGTGGTGCCGCAAGGCTGGG 0.637000 5 129 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672537 141672537 + Missense_Mutation SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:141672537C>G ENST00000547270.1 - 1 1036 c.953G>C c.(952-954)aGc>aCc p.S318T NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 318 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TACCTTCAGGCTGCTCTGAGC 0.507000 8 86 0 0 1 0 0 ACTR5 79913 broad.mit.edu 37 20 37400382 37400382 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr20:37400382G>A ENST00000243903.4 + 9 1784 c.1747G>A c.(1747-1749)Gcc>Acc p.A583T NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 583 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCCGAAGCAGGCCTCCCGCTC 0.587000 19 13 0 0 1 0 0 APOC4-APOC2 0 broad.mit.edu 37 19 45445567 45445567 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:45445567G>T ENST00000419266.2 + 1 73 c.33G>T c.(31-33)ctG>ctT p.L11L APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4-APOC2_ENST00000436871.1_Silent_p.L11L|APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L TCCAGGCCCTGCCTGCCCTGT 0.657000 3 30 0.150653 0.162469 1 1 0 APOB 338 broad.mit.edu 37 2 21231311 21231311 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr2:21231311G>T ENST00000233242.1 - 26 8556 c.8429C>A c.(8428-8430)gCa>gAa p.A2810E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2810 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTGCATTTGCTTGAAAATC 0.453000 42 115 2.47872e-24 3.24595e-24 1 1 0 KRIT1 889 broad.mit.edu 37 7 91870306 91870306 + Splice_Site SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:91870306C>T ENST00000394507.1 - 6 1046 c.e6+1 KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGTTTCCTACCTCTGATACC 0.318000 28 67 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276765 15276765 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:15276765G>A ENST00000263388.2 - 30 5575 c.5500C>T c.(5500-5502)Cgg>Tgg p.R1834W NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1834 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGTCAGTCCGTGCCCCAAGC 0.612000 17 17 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121491 38121491 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr22:38121491C>T ENST00000406386.3 + 7 3183 c.2928C>T c.(2926-2928)gcC>gcT p.A976A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 976 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCCCGGGCCACCTCTTCCT 0.637000 5 284 0 0 1 0 0 FTSJD2 0 broad.mit.edu 37 6 37426394 37426394 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr6:37426394C>T ENST00000373451.4 + 9 948 c.784C>T c.(784-786)Ctg>Ttg p.L262L NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 262 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 GCAGAAGCCACTGGTGAAGGA 0.522000 13 22 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090966 115090966 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr13:115090966T>C ENST00000361283.1 + 3 1958 c.1649T>C c.(1648-1650)cTt>cCt p.L550P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 550 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAACGTGCCCTTTTTCCAGAG 0.517000 4 328 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41204550 41204550 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr1:41204550G>A ENST00000372652.1 + 2 303 c.35G>A c.(34-36)aGc>aAc p.S12N NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 12 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GGTACTAGCAGCAGTGATGCC 0.418000 3 65 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 7 151 0 0 1 0 0 C3orf79 152118 broad.mit.edu 37 3 153202433 153202433 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr3:153202433A>C ENST00000446603.2 + 1 150 c.88A>C c.(88-90)Act>Cct p.T30P RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 30 endometrium(1)|large_intestine(3) 4 TCTTCTGCCTACTCCTGAGCT 0.433000 124 154 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41272519 41272519 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr15:41272519G>T ENST00000361937.3 - 36 4997 c.4573C>A c.(4573-4575)Cct>Act p.P1525T INO80_ENST00000401393.3_Missense_Mutation_p.P1525T Q9ULG1 INO80_HUMAN INO80 complex subunit 1525 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGATTCCCAGGAACATTATTT 0.557000 29 43 5.61819e-17 6.85145e-17 1 1 0 FOXA1 3169 broad.mit.edu 37 14 38061229 38061229 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr14:38061229A>C ENST00000250448.2 - 2 821 c.760T>G c.(760-762)Ttc>Gtc p.F254V FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGTTCTCGAACATGTTGCCG 0.692000 10 16 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411650 32411650 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr6:32411650G>A ENST00000395388.2 + 4 837 c.728G>A c.(727-729)cGc>cAc p.R243H HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 243 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 AAGGGATTGCGCAAAAGCAAT 0.537000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 39 46 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104151 53104151 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:53104151G>A ENST00000408890.4 + 1 803 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 263 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGCCCCATCCGCCATCTGGGA 0.662000 53 34 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74474079 74474079 + Missense_Mutation SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr3:74474079A>T ENST00000263665.6 - 4 398 c.371T>A c.(370-372)tTt>tAt p.F124Y NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 124 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTTGGTTTTAAAATTTTCAAG 0.398000 8 11 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19735327 19735327 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr11:19735327C>A ENST00000396085.1 + 1 447 c.86C>A c.(85-87)cCg>cAg p.P29Q NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 29 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CACGTgcccccggcccgggcg 0.657000 9 16 0.000274275 0.00030475 1 1 0 NETO1 81832 broad.mit.edu 37 18 70461444 70461444 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr18:70461444C>A ENST00000327305.6 - 6 1204 c.547G>T c.(547-549)Gtg>Ttg p.V183L NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 183 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATAGACTCCACAATTCCTTCG 0.433000 3 58 1 1 1 1 0 CCT8 10694 broad.mit.edu 37 21 30440001 30440001 + Missense_Mutation SNP A A G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr21:30440001A>G ENST00000286788.4 - 4 463 c.257T>C c.(256-258)aTt>aCt p.I86T CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 86 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 AGCCATTACAATCATTTTTGC 0.368000 5 87 0 0 1 0 0 VPS33B 26276 broad.mit.edu 37 15 91549633 91549633 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr15:91549633C>A ENST00000333371.3 - 11 1174 c.821G>T c.(820-822)aGc>aTc p.S274I VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 274 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CACCTTCAGGCTCTTGTCAGA 0.562000 4 106 1 1 1 1 0 CEP41 95681 broad.mit.edu 37 7 130042551 130042551 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:130042551C>A ENST00000223208.4 - 7 782 c.512G>T c.(511-513)tGc>tTc p.C171F CEP41_ENST00000541543.1_Missense_Mutation_p.C155F|CEP41_ENST00000343969.5_Missense_Mutation_p.C171F NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 171 Rhodanese. G2/M transition of mitotic cell cycle centrosome|cytosol CAGGAAGGGGCAGTCAGGATA 0.488000 4 247 0.00024832 0.000282182 1 1 0 MUC16 94025 broad.mit.edu 37 19 9057080 9057080 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:9057080G>T ENST00000397910.4 - 3 30569 c.30366C>A c.(30364-30366)atC>atA p.I10122I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10124 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCCGAGTGGATTGAAACAG 0.463000 15 32 2.62699e-14 3.12737e-14 1 1 0 FNBP4 23360 broad.mit.edu 37 11 47758292 47758292 + Splice_Site SNP G G C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr11:47758292G>C ENST00000263773.5 - 9 1469 c.1456_splice c.e9-1 p.A486_splice FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 486 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 AGCACCAATTGCTGTAAAAAA 0.303000 3 0 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276765 15276765 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:15276765G>A ENST00000263388.2 - 30 5575 c.5500C>T c.(5500-5502)Cgg>Tgg p.R1834W NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1834 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGTCAGTCCGTGCCCCAAGC 0.612000 17 17 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928671 10928671 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr6:10928671C>T ENST00000283141.6 + 18 1772 c.1476C>T c.(1474-1476)ttC>ttT p.F492F RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 492 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) tccctgacttcccgcaacaAC 0.498000 24 25 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972803 110972803 + Silent SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr4:110972803T>C ENST00000394607.3 - 5 652 c.489A>G c.(487-489)ggA>ggG p.G163G ELOVL6_ENST00000302274.3_Silent_p.G163G Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 163 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TGAACCAACCTCCCCCGGCAA 0.517000 3 53 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344742 159344742 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr5:159344742G>A ENST00000306675.3 + 1 953 c.830G>A c.(829-831)aGt>aAt p.S277N NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 277 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AACCCCAGGAGTTCCATAGCT 0.502000 3 118 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 7 145 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3990593 3990593 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:3990593G>T ENST00000404826.2 + 6 1025 c.886G>T c.(886-888)Gtg>Ttg p.V296L SDK1_ENST00000389531.3_Missense_Mutation_p.V296L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 296 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCAACCATTGTGGTTCCCCC 0.552000 30 49 2.42023e-17 3.10286e-17 1 1 0 DOCK7 85440 broad.mit.edu 37 1 62941378 62941378 + Splice_Site SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr1:62941378C>G ENST00000251157.5 - 45 5961 c.5928_splice c.e45+1 p.E1976_splice DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1987 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATGGACTTACCTCTTCTTTAT 0.378000 48 72 0 0 1 0 0 PPP1R42 286187 broad.mit.edu 37 8 67922953 67922953 + Silent SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr8:67922953C>G ENST00000522909.1 - 5 733 c.549G>C c.(547-549)gtG>gtC p.V183V PPP1R42_ENST00000324682.5_Silent_p.V183V Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 183 ACACTACCTTCACATGCAGAA 0.254000 11 69 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29393810 29393810 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr15:29393810G>T ENST00000558402.1 + 11 1946 c.1347G>T c.(1345-1347)atG>atT p.M449I APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 449 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGGAAACCATGATGGACCACG 0.577000 3 26 1 1 1 1 0 SRPX 8406 broad.mit.edu 37 X 38016273 38016273 + Missense_Mutation SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chrX:38016273A>T ENST00000378533.3 - 8 1071 c.965T>A c.(964-966)gTc>gAc p.V322D SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|TM4SF2_ENST00000465127.1_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 322 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 ACCCACATTGACGTTCATGGC 0.478000 7 30 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67079329 67079329 + Missense_Mutation SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr11:67079329C>T ENST00000308127.4 + 14 2129 c.1951C>T c.(1951-1953)Cat>Tat p.H651Y SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 651 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCAGCGTGCATGACAGTGG 0.637000 37 47 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34255095 34255095 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr9:34255095G>A ENST00000379166.2 - 12 4060 c.3941C>T c.(3940-3942)aCg>aTg p.T1314M KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1314 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GCTCATCAGCGTCTCCTCCTT 0.527000 3 15 0 0 1 0 0 ACTR5 79913 broad.mit.edu 37 20 37400382 37400382 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr20:37400382G>A ENST00000243903.4 + 9 1784 c.1747G>A c.(1747-1749)Gcc>Acc p.A583T NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 583 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCCGAAGCAGGCCTCCCGCTC 0.587000 19 13 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201938 248201938 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr1:248201938G>T ENST00000366479.2 + 1 465 c.369G>T c.(367-369)gtG>gtT p.V123V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATCGTTATGTGGCCATTTGCT 0.438000 57 62 2.3441e-25 3.1677e-25 1 1 0 GTF2B 2959 broad.mit.edu 37 1 89319013 89319013 + Silent SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr1:89319013A>T ENST00000370500.5 - 7 952 c.834T>A c.(832-834)gcT>gcA p.A278A NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 278 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) CAGCAACACCAGCAATATCTC 0.398000 49 59 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 54 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131193524 131193524 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr9:131193524G>A ENST00000372842.1 + 10 4055 c.911G>A c.(910-912)cGc>cAc p.R304H CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 382 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TACTCGGGCCGCACTCTGACC 0.627000 4 150 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 3 52 0 0 1 0 0 TRBV2 0 broad.mit.edu 37 7 142000833 142000833 + RNA SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:142000833C>A ENST00000455382.2 + 0 87 GGATACCTGGCTCGTATGCTG 0.478000 33 85 3.4345e-17 4.29312e-17 1 1 0 PYROXD2 84795 broad.mit.edu 37 10 100150769 100150769 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr10:100150769T>C ENST00000370575.4 - 11 1181 c.1133A>G c.(1132-1134)aAt>aGt p.N378S PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 378 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 CCTCTTACCATTGATCTTGGT 0.547000 10 166 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41858655 41858655 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:41858655G>T ENST00000221930.5 - 1 1161 c.295C>A c.(295-297)Cct>Act p.P99T TMEM91_ENST00000539627.1_Intron NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 99 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) TCGGCCTCAGGCTCGGGCTCC 0.731000 OREG0025483 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 1.99824e-07 2.32353e-07 1 1 0 CSNK2A2 1459 broad.mit.edu 37 16 58198010 58198010 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr16:58198010C>A ENST00000262506.3 - 11 1201 c.1018G>T c.(1018-1020)Gct>Tct p.A340S CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 340 axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GAAAGCACAGCATTGTCTGCA 0.527000 3 40 1 1 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43620821 43620821 + Silent SNP A A G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr15:43620821A>G ENST00000305641.5 - 1 1982 c.1867T>C c.(1867-1869)Ttg>Ctg p.L623L LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 623 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TCAGAGCTCAATCCTGTAGTC 0.443000 42 34 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140267454 140267454 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr9:140267454G>A ENST00000340951.4 - 5 560 c.365C>T c.(364-366)gCg>gTg p.A122V EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 122 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CAGTGGTGCCGCAAGGCTGGG 0.637000 5 129 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672537 141672537 + Missense_Mutation SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:141672537C>G ENST00000547270.1 - 1 1036 c.953G>C c.(952-954)aGc>aCc p.S318T NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 318 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TACCTTCAGGCTGCTCTGAGC 0.507000 8 86 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 51 0 0 1 0 0 APOC4-APOC2 0 broad.mit.edu 37 19 45445567 45445567 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:45445567G>T ENST00000419266.2 + 1 73 c.33G>T c.(31-33)ctG>ctT p.L11L APOC4_ENST00000592954.1_Silent_p.L11L|APOC4-APOC2_ENST00000436871.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L TCCAGGCCCTGCCTGCCCTGT 0.657000 3 30 0.150653 0.163754 1 1 0 APOB 338 broad.mit.edu 37 2 21231311 21231311 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr2:21231311G>T ENST00000233242.1 - 26 8556 c.8429C>A c.(8428-8430)gCa>gAa p.A2810E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2810 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTGCATTTGCTTGAAAATC 0.453000 42 115 2.47872e-24 3.26148e-24 1 1 0 KRIT1 889 broad.mit.edu 37 7 91870306 91870306 + Splice_Site SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr7:91870306C>T ENST00000394507.1 - 6 1046 c.e6+1 KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGTTTCCTACCTCTGATACC 0.318000 28 67 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570613 20570613 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr16:20570613T>C ENST00000329697.6 - 3 502 c.334A>G c.(334-336)Atg>Gtg p.M112V ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 112 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CGGGGCAGCATCACTGCCACA 0.552000 3 19 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 11 94 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149527482 149527483 + RNA INS - - C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:149527482_149527483insC ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) tcctcctctgtccccccccaca 0.634 2 4 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 8 19 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 6 --- --- --- --- ZNF439 90594 broad.mit.edu 37 19 11978582 11978582 + Frame_Shift_Del DEL A A - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:11978582delA ENST00000304030.2 + 3 898 c.698delA c.(697-699)gafs p.E233fs ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CTTATCCATGAAAGAACTCAC 0.373 46 53 --- --- --- --- ZNF226 7769 broad.mit.edu 37 19 44681615 44681616 + Frame_Shift_Del DEL AA AA - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:44681615_44681616delAA ENST00000590089.1 + 7 2567_2568 c.2200_2201delAA c.(2200-2202)afs p.K734fs ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs Q9NYT6 ZN226_HUMAN zinc finger protein 226 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TGTGTGTGGTAAAGTCTTCAGT 0.450 38 99 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 4 2 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 7 163 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144945742 144945743 + In_Frame_Ins INS - - AAGGTGACCCTG TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr8:144945742_144945743insAAGGTGACCCTG ENST00000525985.1 - 2 1750_1751 c.1679_1680insCAGGGTCACCTT c.(1678-1680)ttc>tCAGGGTCACCTTtc p.559_560insSGSP P58107 EPIPL_HUMAN epiplakin 1 559 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCAGCCCAGAAAAGGTGACCCT 0.639 9 20 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 9 117 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 6 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 2 4 --- --- --- --- ZNF439 90594 broad.mit.edu 37 19 11978582 11978582 + Frame_Shift_Del DEL A A - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:11978582delA ENST00000304030.2 + 3 898 c.698delA c.(697-699)gafs p.E233fs ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CTTATCCATGAAAGAACTCAC 0.373 46 53 --- --- --- --- ZNF226 7769 broad.mit.edu 37 19 44681615 44681616 + Frame_Shift_Del DEL AA AA - TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 6ec93e5e-92dc-4e51-95f2-a74eee00cf98 g.chr19:44681615_44681616delAA ENST00000590089.1 + 7 2567_2568 c.2200_2201delAA c.(2200-2202)afs p.K734fs ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs Q9NYT6 ZN226_HUMAN zinc finger protein 226 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TGTGTGTGGTAAAGTCTTCAGT 0.450 38 99 --- --- --- ---