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 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 4 20 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 11 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717486 73717486 + Silent SNP T T A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr2:73717486T>A ENST00000264448.6 + 10 8508 c.8397T>A c.(8395-8397)gtT>gtA p.V2799V ALMS1_ENST00000409009.1_Silent_p.V2757V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2799 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AATTACCTGTTGATTTTGAGC 0.363000 9 36 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107700657 107700657 + Missense_Mutation SNP G G T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr5:107700657G>T ENST00000542267.1 - 3 1562 c.1156C>A c.(1156-1158)Cag>Aag p.Q386K FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 386 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) ATTATATTCTGACTTCTTGAT 0.303000 16 51 4.7546e-09 5.00485e-09 1 1 0 SERINC3 10955 broad.mit.edu 37 20 43141574 43141574 + Missense_Mutation SNP T T A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr20:43141574T>A ENST00000342374.4 - 3 420 c.263A>T c.(262-264)gAt>gTt p.D88V SERINC3_ENST00000255175.1_Missense_Mutation_p.D88V|SERINC3_ENST00000541235.1_Missense_Mutation_p.D33V NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 88 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) CACATCACAATCTTTATCTGC 0.363000 4 53 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95167003 95167003 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr7:95167003C>T ENST00000325885.5 + 5 1284 c.1213C>T c.(1213-1215)Cct>Tct p.P405S NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 405 SOCS box. intracellular signal transduction p.P405S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TAGAGCAATTCCTTTGCTTTC 0.413000 10 73 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140723674 140723674 + Missense_Mutation SNP A A T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr5:140723674A>T ENST00000253812.6 + 1 74 c.74A>T c.(73-75)gAa>gTa p.E25V PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCTGTGCGAAACAGGATCC 0.572000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 121 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39262596 39262596 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr2:39262596G>A ENST00000426016.1 - 8 996 c.910C>T c.(910-912)Cga>Tga p.R304* SOS1_ENST00000428721.2_Nonsense_Mutation_p.R247*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R304*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.R304* Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 304 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAACCAGGTCGCAAAATATCT 0.338000 Noonan syndrome 4 59 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15749534 15749534 + Missense_Mutation SNP G G C TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr3:15749534G>C ENST00000399451.2 - 14 1721 c.1354C>G c.(1354-1356)Cag>Gag p.Q452E ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q485E|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 452 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AACAGGCACTGGTAATTGCAG 0.458000 4 8 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865285 148865285 + Silent SNP A A T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr6:148865285A>T ENST00000367467.3 + 18 3154 c.2679A>T c.(2677-2679)ctA>ctT p.L893L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 893 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ATGCATTGCTACTGACCCAAA 0.552000 32 119 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770577 152770577 + Missense_Mutation SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr1:152770577G>A ENST00000326233.6 + 2 350 c.307G>A c.(307-309)Ggt>Agt p.G103S NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 103 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTGCTGCGGTGGGGGCAG 0.632000 7 12 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111862949 111862949 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr1:111862949C>T ENST00000369740.1 + 12 1395 c.1292C>T c.(1291-1293)gCt>gTt p.A431V CHIA_ENST00000353665.6_Missense_Mutation_p.A270V|CHIA_ENST00000343320.6_Missense_Mutation_p.A431V|CHIA_ENST00000483391.1_Missense_Mutation_p.A270V|CHIA_ENST00000451398.2_Missense_Mutation_p.A270V|CHIA_ENST00000430615.1_Missense_Mutation_p.A323V|RP5-1125M8.2_ENST00000426321.1_RNA NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 431 Chitin-binding type-2. apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GGATTCTGTGCTGTCAGAGCC 0.602000 7 29 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150738258 150738258 + Missense_Mutation SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr7:150738258G>A ENST00000358849.4 + 13 1649 c.1556G>A c.(1555-1557)cGg>cAg p.R519Q ABCB8_ENST00000297504.6_Missense_Mutation_p.R536Q|ABCB8_ENST00000542328.1_Missense_Mutation_p.R431Q|ABCB8_ENST00000498578.1_Missense_Mutation_p.R519Q|ABCB8_ENST00000356058.4_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 536 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGATGGGCGGGACCTGCGC 0.677000 3 38 0 0 1 0 0 NDUFA12 55967 broad.mit.edu 37 12 95396517 95396517 + Missense_Mutation SNP A A G TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr12:95396517A>G ENST00000327772.2 - 2 256 c.167T>C c.(166-168)tTt>tCt p.F56S NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_Missense_Mutation_p.F56S NM_018838.4 NP_061326.1 Q9UI09 NDUAC_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 56 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity endometrium(1)|large_intestine(2)|lung(3) 6 NADH(DB00157) GCACTCACCAAAAAATTGCTT 0.338000 11 36 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16675127 16675127 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr5:16675127C>T ENST00000513610.1 - 35 5253 c.4799G>A c.(4798-4800)cGa>cAa p.R1600Q MYO10_ENST00000427430.2_Missense_Mutation_p.R957Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R939Q|MYO10_ENST00000515803.1_Missense_Mutation_p.R939Q|MYO10_ENST00000274203.9_Missense_Mutation_p.R957Q NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1600 MyTH4. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCGCAGAGGTCGCAGGTCATG 0.542000 3 36 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144059 11144059 + Missense_Mutation SNP A A C TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr19:11144059A>C ENST00000358026.2 + 26 3924 c.3640A>C c.(3640-3642)Atc>Ctc p.I1214L SMARCA4_ENST00000444061.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.I1214L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.I1214L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.I1214L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1214 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGAGGAGAAGATCCTAGCTGC 0.637000 """F, N, Mis""" NSCLC 18 53 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75668148 75668148 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr16:75668148C>T ENST00000319410.5 - 8 1043 c.922G>A c.(922-924)Gcc>Acc p.A308T KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.A280T NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 280 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AAAGGCTTGGCCACGGCTCCC 0.448000 14 49 0 0 1 0 0 TRBV20-1 0 broad.mit.edu 37 7 142334684 142334684 + RNA SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr7:142334684G>A ENST00000390394.3 + 0 184 TGTGAAGATCGAGTGCCGTTC 0.522000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 64 0 0 1 0 0 RP11-798G7.6 0 broad.mit.edu 37 17 43625275 43625275 + RNA SNP A A T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr17:43625275A>T ENST00000586348.1 + 0 45 TTTGGGTGTAACTTTCAGACT 0.493000 15 64 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128990698 128990698 + Silent SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr3:128990698G>A ENST00000314797.6 + 19 2036 c.1932G>A c.(1930-1932)acG>acA p.T644T NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 644 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity AGTCAGAGACGGAGTATGTCA 0.607000 5 22 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173317158 173317158 + Missense_Mutation SNP C C A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr5:173317158C>A ENST00000265085.5 + 1 1876 c.422C>A c.(421-423)aCa>aAa p.T141K CPEB4_ENST00000334035.5_Missense_Mutation_p.T141K|CPEB4_ENST00000519835.1_Missense_Mutation_p.T141K|CPEB4_ENST00000520867.1_Missense_Mutation_p.T141K NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 141 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCAGTGTTGACAGGGTTTGAT 0.453000 6 77 4.096e-09 4.42811e-09 1 1 0 HSF5 124535 broad.mit.edu 37 17 56557586 56557586 + Missense_Mutation SNP T T G TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr17:56557586T>G ENST00000323777.3 - 2 702 c.593A>C c.(592-594)gAt>gCt p.D198A NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGACAAACTATCTCGACGAAA 0.433000 10 20 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 3 37 0 0 1 0 0 ZNF34 80778 broad.mit.edu 37 8 145998934 145998934 + Missense_Mutation SNP C C A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr8:145998934C>A ENST00000429371.2 - 6 1490 c.1337G>T c.(1336-1338)aGa>aTa p.R446I ZNF34_ENST00000343459.4_Missense_Mutation_p.R467I NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TGTGTGGATTCTCTGGTGCTG 0.537000 4 44 1 1 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 41 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 202 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76395604 76395604 + Missense_Mutation SNP C C A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr17:76395604C>A ENST00000262764.6 + 5 713 c.687C>A c.(685-687)agC>agA p.S229R PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.S94R NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 229 PLD phosphodiesterase 1. phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TCGACAACAGCGTCATCTTGA 0.597000 4 45 0.000602214 0.000617656 1 1 0 PCDHGA3 0 broad.mit.edu 37 5 140723673 140723673 + Missense_Mutation SNP G G C TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr5:140723673G>C ENST00000253812.6 + 1 73 c.73G>C c.(73-75)Gaa>Caa p.E25Q PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCTGTGCGAAACAGGATC 0.567000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 120 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085830 92085830 + Silent SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr11:92085830C>T ENST00000298047.6 + 1 569 c.552C>T c.(550-552)gaC>gaT p.D184D FAT3_ENST00000525166.1_Silent_p.D34D|FAT3_ENST00000409404.2_Silent_p.D184D|FAT3_ENST00000541502.1_Silent_p.D184D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 184 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.D184D(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGCAACAGACGCAGATATTG 0.423000 TCGA Ovarian(4;0.039) 6 35 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87160785 87160785 + Missense_Mutation SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr7:87160785G>A ENST00000265724.3 - 22 2927 c.2510C>T c.(2509-2511)aCc>aTc p.T837I ABCB1_ENST00000543898.1_Missense_Mutation_p.T773I|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 837 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TATATTCTGGGTAATTACAGC 0.328000 9 33 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50330064 50330064 + Missense_Mutation SNP G G A TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr3:50330064G>A ENST00000336089.4 - 2 240 c.241C>T c.(241-243)Cgc>Tgc p.R81C IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 86 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AATGCCCTGCGCGCGCCCCAG 0.662000 12 48 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063897 74063897 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr6:74063897C>T ENST00000370370.3 - 1 121 c.52G>A c.(52-54)Gaa>Aaa p.E18K NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 18 multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 TTCAGGTCTTCGGGAACTTTC 0.587000 14 50 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 15 0 0 1 0 0 EMC3 55831 broad.mit.edu 37 3 10011467 10011468 + Frame_Shift_Ins INS - - T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr3:10011467_10011468insT ENST00000245046.2 - 7 1050_1051 c.592_593insA c.(592-594)gatfs p.D198fs EMC3_ENST00000497557.1_5'UTR NM_018447.2 NP_060917.1 ER membrane protein complex subunit 3 CTCCTGCATCATTCGTGATTGG 0.525 20 71 --- --- --- --- EEF1A1 1915 broad.mit.edu 37 6 74228229 74228244 + Frame_Shift_Del DEL CGACAGATTTTACTTC CGACAGATTTTACTTC - TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr6:74228229_74228244delCGACAGATTTTACTTC ENST00000316292.9 - 5 1853_1868 c.862_877delGAAGTAAAATCTGTCG c.(862-879)aafs p.EVKSVE288fs EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.EVKSVE288fs|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.EVKSVE288fs NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 288 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.V292V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TGGTGCATTTCGACAGATTTTACTTCCGTTGTAACG 0.468 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 33 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89653814 89653814 + Frame_Shift_Del DEL C C - TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr10:89653814delC ENST00000371953.3 + 2 1469 c.112delC c.(112-114)ctfs p.P38fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 38 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATGGGATTTCCTGCAGAAAG 0.284 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 15 33 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 4 8 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12157184 12157184 + Splice_Site DEL T T - TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr19:12157184delT ENST00000602107.1 - 4 330 c.332_splice c.e4+1 p.R112_splice ZNF878_ENST00000547628.1_Splice_Site_p.R65_splice|CTD-2006C1.10_ENST00000547473.1_Splice_Site_p.R64_splice C9JN71 ZN878_HUMAN zinc finger protein 878 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 GCCAGTTACCTTAGGTTTCTC 0.348 2 4 --- --- --- --- IRGQ 126298 broad.mit.edu 37 19 44096566 44096568 + In_Frame_Del DEL GCC GCC - TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chr19:44096566_44096568delGCC ENST00000422989.1 - 3 1637_1639 c.1482_1484delGGC c.(1480-1485)gca>gc p.AA494del L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_In_Frame_Del_p.AA494del|IRGQ_ENST00000601520.1_Intron NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 494 Ala-rich. protein binding p.A495delA(1) endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) TGGGAGTGGTGCCGCCGCCGCCG 0.729 2 4 --- --- --- --- OTC 5009 broad.mit.edu 37 X 38229085 38229086 + Frame_Shift_Ins INS - - T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chrX:38229085_38229086insT ENST00000039007.4 + 3 405_406 c.253_254insT c.(253-255)tttfs p.F85fs OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 85 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) CTTAGGCATGATTTTTGAGAAA 0.322 20 34 --- --- --- --- CYSLTR1 0 broad.mit.edu 37 X 77528275 77528276 + Frame_Shift_Ins INS - - TT TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chrX:77528275_77528276insTT ENST00000373304.3 - 3 1260_1261 c.968_969insAA c.(967-969)aaafs p.K323fs NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 323 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AAGAGGCCTTCTTTCTGGGTAC 0.366 12 23 --- --- --- --- TXLNG2P 0 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18a4706-70cf-463a-be68-fffa9c36c5d6 63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 2 4 --- --- --- ---