#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABL1	25	hgsc.bcm.edu	37	9	133738356	133738356	+	Silent	SNP	G	G	A	rs121913458		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:133738356G>A	ENST00000318560.5	+	4	1137	c.756G>A	c.(754-756)caG>caA	p.Q252Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.Q252H(7)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCGGGGGCCAGTACGGGGAGG	0.612			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(7)											83.0	80.0	81.0					9																	133738356		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.756G>A	9.37:g.133738356G>A			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.612	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313	
ADH1A	124	hgsc.bcm.edu	37	4	100205662	100205662	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr4:100205662T>A	ENST00000209668.2	-	5	574	c.461A>T	c.(460-462)gAt>gTt	p.D154V	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	154					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TGCATTTTCATCCACCACTGT	0.517																																																	0													91.0	87.0	88.0					4																	100205662		2203	4300	6503	SO:0001583	missense	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.461A>T	4.37:g.100205662T>A	ENSP00000209668:p.Asp154Val		A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	5.104	0.204763	0.09704	.	.	ENSG00000187758	ENST00000209668	T	0.05199	3.48	2.59	2.59	0.31030	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.525025	0.20493	N	0.091241	T	0.19005	0.0456	M	0.74389	2.26	0.41537	D	0.988491	D	0.60575	0.988	D	0.66084	0.941	T	0.00865	-1.1535	10	0.49607	T	0.09	-14.4789	8.4397	0.32808	0.0:0.0:0.2153:0.7847	.	154	P07327	ADH1A_HUMAN	V	154	ENSP00000209668:D154V	ENSP00000209668:D154V	D	-	2	0	ADH1A	100424685	0.000000	0.05858	0.969000	0.41365	0.077000	0.17291	0.127000	0.15790	1.174000	0.42811	0.377000	0.23210	GAT		0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1		NM_000667	
AVPR2	554	hgsc.bcm.edu	37	X	153170604	153170604	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chrX:153170604T>C	ENST00000358927.2	+	2	214	c.5T>C	c.(4-6)cTc>cCc	p.L2P	AVPR2_ENST00000337474.5_Missense_Mutation_p.L2P|AVPR2_ENST00000370049.1_Missense_Mutation_p.L2P			P30518	V2R_HUMAN	arginine vasopressin receptor 2	2					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCACCATGCTCATGGCGTCC	0.602																																																	0													165.0	125.0	139.0					X																	153170604		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.5T>C	X.37:g.153170604T>C	ENSP00000351805:p.Leu2Pro		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	T	6.450	0.451196	0.12223	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.78481	-1.03;-1.18;-1.03;-0.51	3.27	2.13	0.27403	.	2.335370	0.01857	N	0.036361	T	0.67702	0.2921	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.56643	-0.7945	10	0.72032	D	0.01	-8.3175	3.8602	0.08993	0.0:0.1763:0.0:0.8237	.	2;2	P30518-2;P30518	.;V2R_HUMAN	P	2	ENSP00000351805:L2P;ENSP00000393513:L2P;ENSP00000338072:L2P;ENSP00000359066:L2P	ENSP00000338072:L2P	L	+	2	0	AVPR2	152823798	0.001000	0.12720	0.005000	0.12908	0.040000	0.13550	1.011000	0.29911	1.280000	0.44463	0.231000	0.17811	CTC		0.602	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			
C2orf78	388960	hgsc.bcm.edu	37	2	74042659	74042659	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr2:74042659T>C	ENST00000409561.1	+	3	1430	c.1309T>C	c.(1309-1311)Tct>Cct	p.S437P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	437										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGGGATTGAGTCTAGCAGTGA	0.468																																																	0													54.0	53.0	53.0					2																	74042659		1927	4132	6059	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1309T>C	2.37:g.74042659T>C	ENSP00000387124:p.Ser437Pro			Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978871	0.53720	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	-1.33	0.09172	.	0.743493	0.11987	N	0.510201	T	0.34832	0.0911	L	0.41236	1.265	0.09310	N	1	D	0.60575	0.988	P	0.54372	0.75	T	0.24119	-1.0169	9	0.34782	T	0.22	-0.2797	6.03	0.19675	0.0:0.1759:0.4987:0.3254	.	437	A6NCI8	CB078_HUMAN	P	437;427	.	ENSP00000340692:S427P	S	+	1	0	C2orf78	73896167	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.175000	0.09825	0.113000	0.18004	0.533000	0.62120	TCT		0.468	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1		NM_001080474	
CEBPA	1050	hgsc.bcm.edu	37	19	33792412	33792412	+	Silent	SNP	G	G	T	rs371444741		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr19:33792412G>T	ENST00000498907.2	-	1	1058	c.909C>A	c.(907-909)gcC>gcA	p.A303A	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	303	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.A303_K304del(1)|p.A303_Q305del(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TGCGCTGCTTGGCCTTGTCGC	0.642			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	4	Deletion - In frame(2)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(4)											50.0	51.0	51.0					19																	33792412		2203	4300	6503	SO:0001819	synonymous_variant	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.909C>A	19.37:g.33792412G>T			A7LNP2|P78319|Q05CA4	Silent	SNP	ENST00000498907.2	37	CCDS54243.1																																																																																				0.642	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1		NM_004364	
TVP23A	780776	hgsc.bcm.edu	37	16	10867214	10867214	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr16:10867214C>A	ENST00000299866.8	-	5	700	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	137						integral component of membrane (GO:0016021)											AAAAAAAACACAATCCATATC	0.423																																																	0													79.0	79.0	79.0					16																	10867214		1883	4110	5993	SO:0001583	missense	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.409G>T	16.37:g.10867214C>A	ENSP00000299866:p.Val137Leu		B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.127067	0.01770	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T;T	0.44083	0.93;0.93	5.89	3.93	0.45458	.	0.222336	0.40144	N	0.001180	T	0.20292	0.0488	N	0.11131	0.1	0.19300	N	0.999973	B	0.09022	0.002	B	0.08055	0.003	T	0.21552	-1.0242	10	0.10377	T	0.69	-18.2925	9.2578	0.37595	0.0:0.716:0.0:0.2839	.	137	A6NH52	FA18A_HUMAN	L	112;137	ENSP00000411972:V112L;ENSP00000299866:V137L	ENSP00000299866:V137L	V	-	1	0	FAM18A	10774715	0.001000	0.12720	0.571000	0.28486	0.047000	0.14425	0.147000	0.16202	0.818000	0.34468	0.561000	0.74099	GTG		0.423	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1		NM_001079512	
KDM6B	23135	hgsc.bcm.edu	37	17	7753240	7753240	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr17:7753240T>C	ENST00000448097.2	+	12	3873	c.3542T>C	c.(3541-3543)cTc>cCc	p.L1181P	KDM6B_ENST00000254846.5_Missense_Mutation_p.L1181P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1181					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGGGAAAAACTCAACCCCCCT	0.547																																																	0													148.0	158.0	155.0					17																	7753240		2203	4300	6503	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3542T>C	17.37:g.7753240T>C	ENSP00000412513:p.Leu1181Pro		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	T	14.84	2.656196	0.47467	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.80480	-1.38;-1.38	5.27	4.17	0.49024	.	0.139011	0.49305	D	0.000159	D	0.89076	0.6612	M	0.83774	2.66	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.971	D	0.89310	0.3632	10	0.87932	D	0	-18.7798	10.7655	0.46291	0.1427:0.0:0.0:0.8573	.	1181;1181	O15054;O15054-1	KDM6B_HUMAN;.	P	1181	ENSP00000254846:L1181P;ENSP00000412513:L1181P	ENSP00000254846:L1181P	L	+	2	0	KDM6B	7693965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.563000	0.82314	0.932000	0.37266	0.459000	0.35465	CTC		0.547	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1		XM_043272	
KIAA1377	57562	hgsc.bcm.edu	37	11	101833645	101833645	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr11:101833645A>C	ENST00000263468.8	+	6	2149	c.1879A>C	c.(1879-1881)Att>Ctt	p.I627L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I428L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	627										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCAAAGACCATTAAAAAACT	0.323																																																	0													32.0	36.0	34.0					11																	101833645		2200	4296	6496	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1879A>C	11.37:g.101833645A>C	ENSP00000263468:p.Ile627Leu		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	a	7.710	0.694962	0.15039	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07800	3.16;3.16	5.31	2.97	0.34412	.	0.505033	0.19507	N	0.112612	T	0.08846	0.0219	M	0.62723	1.935	0.09310	N	1	B	0.28933	0.228	B	0.26969	0.075	T	0.33292	-0.9874	10	0.18276	T	0.48	-0.7166	8.3254	0.32153	0.7969:0.1338:0.0693:0.0	.	627	Q9P2H0	K1377_HUMAN	L	627;428	ENSP00000263468:I627L;ENSP00000443184:I428L	ENSP00000263468:I627L	I	+	1	0	KIAA1377	101338855	0.968000	0.33430	0.076000	0.20297	0.372000	0.29890	2.147000	0.42226	0.409000	0.25649	-0.364000	0.07487	ATT		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802	
MYH11	4629	hgsc.bcm.edu	37	16	15808800	15808800	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr16:15808800C>G	ENST00000300036.5	-	40	5861	c.5752G>C	c.(5752-5754)Ggc>Cgc	p.G1918R	MYH11_ENST00000396324.3_Missense_Mutation_p.G1925R|MYH11_ENST00000576790.2_Missense_Mutation_p.G1918R|MYH11_ENST00000452625.2_Missense_Mutation_p.G1925R|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1918					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTCGCGGCCCATGGCCTCG	0.672			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													119.0	117.0	117.0					16																	15808800		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5752G>C	16.37:g.15808800C>G	ENSP00000300036:p.Gly1918Arg		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515194	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.76	4.76	0.60689	Myosin tail (1);	0.113372	0.64402	D	0.000013	T	0.68165	0.2971	N	0.14661	0.345	0.49582	D	0.999802	B;B;B;B;B	0.33777	0.425;0.293;0.293;0.293;0.293	B;B;B;B;B	0.42692	0.288;0.395;0.395;0.315;0.222	T	0.71751	-0.4498	10	0.72032	D	0.01	.	10.4174	0.44329	0.0:0.9099:0.0:0.0901	.	1925;1918;1925;1918;1925	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	1918;1918;1925;1925;1925	ENSP00000300036:G1918R;ENSP00000345136:G1918R;ENSP00000379616:G1925R;ENSP00000407821:G1925R	ENSP00000300036:G1918R	G	-	1	0	MYH11	15716301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.435000	0.44811	2.177000	0.69029	0.455000	0.32223	GGC		0.672	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113	
OR13A1	79290	hgsc.bcm.edu	37	10	45799065	45799065	+	Missense_Mutation	SNP	T	T	A	rs35302355|rs376671137	byFrequency	TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr10:45799065T>A	ENST00000553795.1	-	4	1114	c.806A>T	c.(805-807)tAt>tTt	p.Y269F	OR13A1_ENST00000536058.1_Missense_Mutation_p.Y269F|OR13A1_ENST00000374401.2_Missense_Mutation_p.Y269F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCGGTGTAATACATGCACAC	0.567																																																	0													93.0	87.0	89.0					10																	45799065		2203	4300	6503	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.806A>T	10.37:g.45799065T>A	ENSP00000451950:p.Tyr269Phe		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	t	12.39	1.924314	0.34002	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00014	9.18;9.18;9.18	5.78	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.176929	0.27331	N	0.019850	T	0.00073	0.0002	N	0.03294	-0.36	0.27900	N	0.938997	P	0.40681	0.727	P	0.50825	0.651	T	0.28073	-1.0055	10	0.02654	T	1	-35.2569	6.5244	0.22293	0.1383:0.0763:0.0:0.7854	.	269	Q8NGR1	O13A1_HUMAN	F	269	ENSP00000451950:Y269F;ENSP00000438657:Y269F;ENSP00000363522:Y269F	ENSP00000311379:Y269F	Y	-	2	0	OR13A1	45119071	0.028000	0.19301	0.719000	0.30619	0.943000	0.58893	0.119000	0.15626	0.437000	0.26423	0.529000	0.55759	TAT		0.567	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2		NM_001004297	
OR3A1	4994	hgsc.bcm.edu	37	17	3195803	3195803	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr17:3195803C>G	ENST00000323404.1	-	1	73	c.74G>C	c.(73-75)gGg>gCg	p.G25A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCTGCAGCCCTGGCGCCTC	0.567																																					GBM(20;287 516 18743 28660 36594)												0													72.0	76.0	74.0					17																	3195803		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.74G>C	17.37:g.3195803C>G	ENSP00000313803:p.Gly25Ala		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545918	0.27652	.	.	ENSG00000180090	ENST00000323404	T	0.00651	5.97	6.1	-6.13	0.02118	.	1.814180	0.02877	N	0.132432	T	0.00552	0.0018	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46289	-0.9202	10	0.54805	T	0.06	1.8863	10.5457	0.45058	0.0916:0.5069:0.0:0.4015	.	25	P47881	OR3A1_HUMAN	A	25	ENSP00000313803:G25A	ENSP00000313803:G25A	G	-	2	0	OR3A1	3142553	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-2.001000	0.01465	-1.610000	0.01583	-0.312000	0.09012	GGG		0.567	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			
PEAR1	375033	hgsc.bcm.edu	37	1	156878751	156878751	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr1:156878751T>A	ENST00000338302.3	+	12	1559	c.1334T>A	c.(1333-1335)gTc>gAc	p.V445D	PEAR1_ENST00000292357.7_Missense_Mutation_p.V445D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	445					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCTACGGTGTCAACTGTTCT	0.587																																																	0													111.0	89.0	96.0					1																	156878751		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1334T>A	1.37:g.156878751T>A	ENSP00000344465:p.Val445Asp		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	4.878	0.163125	0.09287	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.37584	1.19;1.19	4.87	1.21	0.21127	.	0.682578	0.12749	N	0.442376	T	0.05227	0.0139	N	0.12831	0.26	0.09310	N	0.99999	P	0.37176	0.586	B	0.28849	0.095	T	0.30937	-0.9961	10	0.20519	T	0.43	.	7.2712	0.26258	0.0:0.3762:0.0:0.6238	.	445	Q5VY43	PEAR1_HUMAN	D	445	ENSP00000344465:V445D;ENSP00000292357:V445D	ENSP00000292357:V445D	V	+	2	0	PEAR1	155145375	0.009000	0.17119	0.802000	0.32245	0.364000	0.29643	0.594000	0.24014	0.347000	0.23924	0.460000	0.39030	GTC		0.587	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2		NM_001080471	
RGAG1	57529	hgsc.bcm.edu;ucsc.edu	37	X	109696417	109696417	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chrX:109696417A>G	ENST00000465301.2	+	3	2818	c.2572A>G	c.(2572-2574)Atg>Gtg	p.M858V	RGAG1_ENST00000540313.1_Missense_Mutation_p.M858V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	858										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAGGGATGTCCATGCC	0.532																																																	0													174.0	160.0	165.0					X																	109696417		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2572A>G	X.37:g.109696417A>G	ENSP00000419786:p.Met858Val		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.577685	0.00131	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46451	0.87;0.87	3.98	1.33	0.21861	.	0.592411	0.14239	N	0.332228	T	0.17916	0.0430	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	9	.	.	.	-0.0047	6.076	0.19915	0.6989:0.0:0.3011:0.0	.	858	Q8NET4	RGAG1_HUMAN	V	858	ENSP00000419786:M858V;ENSP00000441452:M858V	.	M	+	1	0	RGAG1	109583073	0.313000	0.24554	0.012000	0.15200	0.630000	0.37929	1.343000	0.33930	0.132000	0.18615	-0.575000	0.04146	ATG		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769	
RRP12	23223	hgsc.bcm.edu	37	10	99132829	99132830	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr10:99132829_99132830insGC	ENST00000370992.4	-	18	2265_2266	c.2154_2155insGC	c.(2152-2157)agaactfs	p.T719fs	RRP12_ENST00000315563.6_Frame_Shift_Ins_p.T619fs|RRP12_ENST00000536831.1_Frame_Shift_Ins_p.T437fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Frame_Shift_Ins_p.T658fs	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	719						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTGAGGTAAGTTCTGATGGTTT	0.619																																																	0																																										SO:0001589	frameshift_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2154_2155insGC	10.37:g.99132829_99132830insGC	ENSP00000360031:p.Thr719fs		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Frame_Shift_Ins	INS	ENST00000370992.4	37	CCDS7457.1																																																																																				0.619	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179	
SIGLEC14	100049587	hgsc.bcm.edu	37	19	52146847	52146847	+	Missense_Mutation	SNP	G	G	A	rs190074952	byFrequency	TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr19:52146847G>A	ENST00000360844.6	-	6	1132	c.1091C>T	c.(1090-1092)gCt>gTt	p.A364V	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	364					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CCCCATGAGAGCCCCCCTGAT	0.582													G|||	11	0.00219649	0.0	0.0101	5008	,	,		9036	0.0		0.004	False		,,,				2504	0.0																0								G	VAL/ALA	3,3601		0,3,1799	55.0	65.0	62.0		1091	-0.1	0.1	19		62	15,7983		0,15,3984	yes	missense	SIGLEC14	NM_001098612.1	64	0,18,5783	AA,AG,GG		0.1875,0.0832,0.1551	probably-damaging	364/397	52146847	18,11584	1802	3999	5801	SO:0001583	missense	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.1091C>T	19.37:g.52146847G>A	ENSP00000354090:p.Ala364Val		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	CCDS42604.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	1	0.0017482517482517483	2	0.002638522427440633	G	12.07	1.826408	0.32329	8.32E-4	0.001875	ENSG00000254415	ENST00000360844	T	0.30981	1.51	3.75	-0.103	0.13609	.	0.872233	0.09485	N	0.795862	T	0.18002	0.0432	L	0.27053	0.805	0.09310	N	1	D	0.58620	0.983	P	0.47864	0.559	T	0.15896	-1.0421	10	0.49607	T	0.09	.	6.7273	0.23363	0.0:0.3734:0.4351:0.1915	.	364	Q08ET2	SIG14_HUMAN	V	364	ENSP00000354090:A364V	ENSP00000354090:A364V	A	-	2	0	SIGLEC14	56838659	0.047000	0.20315	0.101000	0.21167	0.158000	0.22134	-0.099000	0.11007	-0.000000	0.14550	0.557000	0.71058	GCT		0.582	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2		NM_001098612	
SLC25A25	114789	hgsc.bcm.edu	37	9	130863618	130863618	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:130863618C>G	ENST00000373064.5	+	3	580	c.317C>G	c.(316-318)tCc>tGc	p.S106C	SLC25A25_ENST00000373069.5_Missense_Mutation_p.S140C|SLC25A25_ENST00000373068.2_Missense_Mutation_p.S140C|SLC25A25_ENST00000433501.1_Missense_Mutation_p.S3C|SLC25A25_ENST00000432073.2_Missense_Mutation_p.S126C|SLC25A25_ENST00000373066.5_Missense_Mutation_p.S126C	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	106	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						ATCATGCAGTCCCTGCGGGAC	0.577																																																	0													54.0	60.0	58.0					9																	130863618		2203	4300	6503	SO:0001583	missense	114789			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.317C>G	9.37:g.130863618C>G	ENSP00000362155:p.Ser106Cys		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698131	0.68386	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.81330	-0.6;-0.6;-0.6;-0.6;-0.6;-1.48	5.15	5.15	0.70609	EF-hand-like domain (1);	0.101760	0.64402	D	0.000001	T	0.79052	0.4381	L	0.49126	1.545	0.80722	D	1	B;B;B;B	0.21147	0.007;0.01;0.022;0.052	B;B;B;B	0.28709	0.033;0.047;0.047;0.093	T	0.75766	-0.3202	10	0.48119	T	0.1	-17.7035	17.6765	0.88232	0.0:1.0:0.0:0.0	.	106;126;126;140	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	C	140;140;126;126;106;3	ENSP00000362159:S140C;ENSP00000362160:S140C;ENSP00000410053:S126C;ENSP00000362157:S126C;ENSP00000362155:S106C;ENSP00000401672:S3C	ENSP00000362155:S106C	S	+	2	0	SLC25A25	129903439	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.395000	0.81488	0.456000	0.33151	TCC		0.577	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1		NM_052901	
TAF6	6878	hgsc.bcm.edu	37	7	99705041	99705041	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr7:99705041G>A	ENST00000344095.4	-	15	2387	c.1862C>T	c.(1861-1863)cCc>cTc	p.P621L	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P545L|TAF6_ENST00000437822.2_Missense_Mutation_p.P658L|TAF6_ENST00000453269.2_Missense_Mutation_p.P621L|TAF6_ENST00000472509.1_Missense_Mutation_p.P678L|TAF6_ENST00000452041.1_Missense_Mutation_p.P621L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	621					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGGAGGTGGGGCCTCCTTT	0.667																																																	0													75.0	81.0	79.0					7																	99705041		2203	4300	6503	SO:0001583	missense	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1862C>T	7.37:g.99705041G>A	ENSP00000344537:p.Pro621Leu		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	g	9.576	1.122430	0.20877	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.45276	0.93;0.9;0.93;0.93;0.92	5.51	4.64	0.57946	.	0.653636	0.15032	N	0.284401	T	0.20820	0.0501	N	0.08118	0	0.35393	D	0.790946	B;B;B;B;B	0.23377	0.084;0.051;0.03;0.03;0.084	B;B;B;B;B	0.23419	0.021;0.046;0.021;0.012;0.021	T	0.21793	-1.0235	10	0.15499	T	0.54	-21.5397	7.211	0.25933	0.0841:0.0:0.7485:0.1674	.	658;611;611;621;545	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	L	621;678;621;621;545;658	ENSP00000389575:P621L;ENSP00000419760:P678L;ENSP00000416396:P621L;ENSP00000344537:P621L;ENSP00000399982:P658L	ENSP00000344537:P621L	P	-	2	0	TAF6	99542977	0.999000	0.42202	0.593000	0.28771	0.304000	0.27724	3.361000	0.52306	1.566000	0.49654	0.639000	0.83563	CCC		0.667	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2		NM_005641	
TMEM161B	153396	hgsc.bcm.edu	37	5	87516401	87516401	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr5:87516401A>G	ENST00000296595.6	-	5	549	c.425T>C	c.(424-426)cTa>cCa	p.L142P	TMEM161B_ENST00000509387.1_Missense_Mutation_p.L15P|TMEM161B_ENST00000514135.1_Missense_Mutation_p.L142P|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.L131P|TMEM161B_ENST00000511218.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	142						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CAAAACAAGTAGGCACCAGAC	0.333																																																	0													63.0	70.0	68.0					5																	87516401		2203	4300	6503	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.425T>C	5.37:g.87516401A>G	ENSP00000296595:p.Leu142Pro		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418039	0.83449	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	0.137235	0.50627	D	0.000106	T	0.72819	0.3508	L	0.55213	1.73	0.80722	D	1	D	0.56287	0.975	P	0.59424	0.857	T	0.74743	-0.3562	9	0.59425	D	0.04	-6.7827	16.0294	0.80567	1.0:0.0:0.0:0.0	.	142	Q8NDZ6	T161B_HUMAN	P	142;142;131;142;15	.	ENSP00000296595:L142P	L	-	2	0	TMEM161B	87552157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.190000	0.69967	0.477000	0.44152	CTA		0.333	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1		NM_153354	
TNC	3371	hgsc.bcm.edu;ucsc.edu	37	9	117848578	117848578	+	Missense_Mutation	SNP	C	C	T	rs149285218		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:117848578C>T	ENST00000350763.4	-	3	1843	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S	TNC_ENST00000341037.4_Missense_Mutation_p.G478S|TNC_ENST00000340094.3_Missense_Mutation_p.G478S|TNC_ENST00000423613.2_Missense_Mutation_p.G478S|TNC_ENST00000346706.3_Missense_Mutation_p.G478S|TNC_ENST00000542877.1_Missense_Mutation_p.G478S|TNC_ENST00000535648.1_Missense_Mutation_p.G478S|TNC_ENST00000537320.1_Missense_Mutation_p.G478S|TNC_ENST00000345230.3_Missense_Mutation_p.G478S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	478	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACACAGCGGCCGTGCTGGTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		22696	0.0		0.001	False		,,,				2504	0.0																0													149.0	142.0	145.0					9																	117848578		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1432G>A	9.37:g.117848578C>T	ENSP00000265131:p.Gly478Ser		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	41	0.018772893772893772	16	0.032520325203252036	2	0.0055248618784530384	9	0.015734265734265736	14	0.018469656992084433	C	27.1	4.797591	0.90538	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.82	5.82	0.92795	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88100	0.6346	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90568	0.4520	10	0.87932	D	0	.	19.0681	0.93122	0.0:1.0:0.0:0.0	.	478;478	E9PC84;P24821	.;TENA_HUMAN	S	478	ENSP00000344400:G478S;ENSP00000438152:G478S;ENSP00000344555:G478S;ENSP00000345861:G478S;ENSP00000265131:G478S;ENSP00000339553:G478S;ENSP00000411406:G478S;ENSP00000443478:G478S;ENSP00000442242:G478S	ENSP00000344400:G478S	G	-	1	0	TNC	116888399	1.000000	0.71417	0.984000	0.44739	0.735000	0.41995	7.784000	0.85713	2.753000	0.94483	0.462000	0.41574	GGC		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160	
TRAPPC10	7109	hgsc.bcm.edu	37	21	45523389	45523390	+	Frame_Shift_Ins	INS	-	-	T	rs138064479		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr21:45523389_45523390insT	ENST00000291574.4	+	23	3932_3933	c.3757_3758insT	c.(3757-3759)gtcfs	p.V1253fs		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1253					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATGACCACGTCCTGGAAGTC	0.599																																																	0																																										SO:0001589	frameshift_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3758dupT	21.37:g.45523390_45523390dupT	ENSP00000291574:p.Val1253fs		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	CCDS13704.1																																																																																				0.599	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274	
ZC3H15	55854	hgsc.bcm.edu	37	2	187367291	187367291	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr2:187367291A>T	ENST00000337859.6	+	5	738	c.511A>T	c.(511-513)Aag>Tag	p.K171*	AC018867.2_ENST00000595956.1_Silent_p.L22L|ZC3H15_ENST00000544130.1_Intron|ZC3H15_ENST00000468120.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	171					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAGGCGGAAAAGAAAAAACC	0.333																																																	0													83.0	89.0	87.0					2																	187367291		1831	4091	5922	SO:0001587	stop_gained	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.511A>T	2.37:g.187367291A>T	ENSP00000338788:p.Lys171*		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Nonsense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	A	37	6.448093	0.97577	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	.	.	.	5.95	4.76	0.60689	.	0.042082	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.098	12.6095	0.56544	0.8762:0.0:0.0:0.1238	.	.	.	.	X	171	.	ENSP00000338788:K171X	K	+	1	0	ZC3H15	187075536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.612000	0.74187	2.279000	0.76181	0.533000	0.62120	AAG		0.333	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2		NM_018471	
TCEB1	6921	ucsc.edu	37	8	74858968	74858968	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr8:74858968T>G	ENST00000522337.1	-	5	555	c.236A>C	c.(235-237)tAc>tCc	p.Y79S	TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63S|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79S|TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79S			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.Y79F(1)|p.Y79L(1)		endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCGAACCTTGTACGTAAAATA	0.413																																						.											2	Substitution - Missense(2)	kidney(2)											95.0	77.0	83.0					8																	74858968		2203	4300	6503	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.236A>C	8.37:g.74858968T>G	ENSP00000429906:p.Tyr79Ser		E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389998	0.82902	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.66	5.66	0.87406	BTB/POZ fold (2);	0.000000	0.48286	D	0.000198	T	0.72162	0.3426	M	0.91038	3.17	0.80722	D	1	P	0.39520	0.676	P	0.61132	0.884	T	0.76995	-0.2752	10	0.72032	D	0.01	-1.9844	15.8997	0.79362	0.0:0.0:0.0:1.0	.	79	Q15369	ELOC_HUMAN	S	79;63;79;79;79;79;79;79	ENSP00000428334:Y79S;ENSP00000430224:Y63S;ENSP00000428171:Y79S;ENSP00000429596:Y79S;ENSP00000284811:Y79S;ENSP00000429906:Y79S;ENSP00000428074:Y79S;ENSP00000429789:Y79S	ENSP00000284811:Y79S	Y	-	2	0	TCEB1	75021522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.157000	0.67596	0.482000	0.46254	TAC		0.413	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1		NM_005648	
ZC3H3	23144	hgsc.bcm.edu	37	8	144522389	144522389	+	Silent	SNP	G	G	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr8:144522389G>A	ENST00000262577.5	-	11	2668	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			gaggggatgaggaggaggagg	0.657																																																	0																																										SO:0001819	synonymous_variant	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637C>T	8.37:g.144522389G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2		NM_015117	
