#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ELAVL1	1994	genome.wustl.edu	37	19	8056669	8056669	+	Nonsense_Mutation	SNP	C	C	A	rs368659692		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr19:8056669C>A	ENST00000407627.2	-	2	160	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	ELAVL1_ENST00000351593.5_Nonsense_Mutation_p.E38*|ELAVL1_ENST00000596459.1_Nonsense_Mutation_p.E11*|ELAVL1_ENST00000593807.1_Nonsense_Mutation_p.E11*	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	11					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.E11K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGCAGTCTTCGGCCATGTGG	0.418																																																	1	Substitution - Missense(1)	breast(1)											142.0	124.0	130.0					19																	8056669		2203	4300	6503	SO:0001587	stop_gained	1994			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.31G>T	19.37:g.8056669C>A	ENSP00000385269:p.Glu11*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVB8|Q53XN6|Q9BTT1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.E38*	ENST00000407627.2	37	c.112	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.173258	0.97348	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	.	.	.	5.67	3.52	0.40303	.	0.260360	0.38326	N	0.001723	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.6032	0.33758	0.1526:0.7677:0.0:0.0798	.	.	.	.	X	11;38	.	ENSP00000264073:E38X	E	-	1	0	ELAVL1	7962669	1.000000	0.71417	0.937000	0.37676	0.993000	0.82548	5.357000	0.66058	0.738000	0.32606	0.655000	0.94253	GAA	ELAVL1	-	NULL		0.418	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	C	NM_001419		8056669	-1	no_errors	ENST00000351593	ensembl	human	known	70_37	nonsense	SNP	0.999	A
LOC100128554	100128554	genome.wustl.edu	37	12	126942643	126942643	+	lincRNA	SNP	C	C	T			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr12:126942643C>T	ENST00000397346.3	+	0	587																											GAGTTCATCTCATCCAGGCGA	0.567																																																	0																																												0																															12.37:g.126942643C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000397346.3	37	NULL		12																																																																																			RP5-944M2.3	-	-		0.567	RP5-944M2.3-001	KNOWN	basic	lincRNA	ENSG00000214043	Clone_based_vega_gene	lincRNA	OTTHUMT00000399847.1	C			126942643	+1	no_errors	ENST00000397346	ensembl	human	known	70_37	rna	SNP	0.013	T
MROH7	374977	genome.wustl.edu	37	1	55118805	55118805	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr1:55118805C>G	ENST00000421030.2	+	3	491	c.206C>G	c.(205-207)tCa>tGa	p.S69*	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Nonsense_Mutation_p.S69*|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Nonsense_Mutation_p.S69*|MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.S69*	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	69						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGTCCAGTCTCAGGGGAGGCC	0.552																																																	0													70.0	70.0	70.0					1																	55118805		1914	4123	6037	SO:0001587	stop_gained	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.206C>G	1.37:g.55118805C>G	ENSP00000396622:p.Ser69*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S69*	ENST00000421030.2	37	c.206	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.265407	0.95399	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.33262	D	0.559921	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5088	0.44849	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000343211:S69X	S	+	2	0	HEATR8	54891393	0.001000	0.12720	0.012000	0.15200	0.020000	0.10135	0.944000	0.29043	2.181000	0.69327	0.561000	0.74099	TCA	HEATR8	-	NULL		0.552	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	C	NM_198547		55118805	+1	no_errors	ENST00000421030	ensembl	human	known	70_37	nonsense	SNP	0.013	G
MT-ND2	4536	genome.wustl.edu	37	M	2174	2174	+	5'Flank	SNP	G	G	A			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chrM:2174G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CACCCATAGTAGGCCTAAAAG	0.393																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2174G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		2174	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
PLCH1	23007	genome.wustl.edu	37	3	155311967	155311967	+	Missense_Mutation	SNP	A	A	G	rs376738258		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr3:155311967A>G	ENST00000340059.7	-	3	196	c.197T>C	c.(196-198)aTt>aCt	p.I66T	PLCH1_ENST00000460012.1_Missense_Mutation_p.I48T|PLCH1_ENST00000414191.1_Missense_Mutation_p.I48T|PLCH1_ENST00000447496.2_Missense_Mutation_p.I66T|PLCH1_ENST00000334686.6_Missense_Mutation_p.I48T|PLCH1_ENST00000494598.1_Missense_Mutation_p.I66T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	66	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAATCAATAAGTACTGT	0.403																																																	0								A	THR/ILE,THR/ILE,THR/ILE	0,4406		0,0,2203	49.0	51.0	51.0		197,197,143	6.1	1.0	3		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	89,89,89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	66/1694,66/1003,48/1656	155311967	1,13005	2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.197T>C	3.37:g.155311967A>G	ENSP00000345988:p.Ile66Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I66T	ENST00000340059.7	37	c.197	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462556	0.84425	0.0	1.16E-4	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.987	D	0.86345	0.1707	10	0.87932	D	0	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	48;66;66	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	T	66;48;66;66;48;48	ENSP00000419100:I66T;ENSP00000417502:I48T;ENSP00000402759:I66T;ENSP00000345988:I66T;ENSP00000335469:I48T;ENSP00000412977:I48T	ENSP00000335469:I48T	I	-	2	0	PLCH1	156794661	1.000000	0.71417	0.989000	0.46669	0.919000	0.55068	9.210000	0.95106	2.326000	0.78906	0.533000	0.62120	ATT	PLCH1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	A	NM_014996		155311967	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	G
PRAF2	11230	genome.wustl.edu	37	X	48931629	48931629	+	Silent	SNP	C	C	T			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chrX:48931629C>T	ENST00000376390.4	-	1	101	c.18G>A	c.(16-18)ctG>ctA	p.L6L	WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_Silent_p.L6L|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Intron	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	6					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GTAGCGGTGGCAGCCGCACCT	0.682																																																	0													30.0	26.0	27.0					X																	48931629		2197	4298	6495	SO:0001819	synonymous_variant	11230			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.18G>A	X.37:g.48931629C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD20	Silent	SNP	pfam_Prenylated_rab_accept_PRA1	p.L6	ENST00000376390.4	37	c.18	CCDS14317.1	X																																																																																			PRAF2	-	pfam_Prenylated_rab_accept_PRA1		0.682	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAF2	HGNC	protein_coding	OTTHUMT00000083415.2	C	NM_007213		48931629	-1	no_errors	ENST00000376390	ensembl	human	known	70_37	silent	SNP	1.000	T
PRSS3	5646	genome.wustl.edu	37	9	33794809	33794809	+	Intron	SNP	G	G	A	rs201061108		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr9:33794809G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000342836.4_Missense_Mutation_p.S7N|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000379405.3_5'Flank	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGAGAGACAAGTGGCTTCACA	0.502																																																	0																																										SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1832G>A	9.37:g.33794809G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S7N	ENST00000361005.5	37	c.20	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.932356	0.00488	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88741	-2.29;-2.42	1.75	-2.5	0.06384	.	.	.	.	.	T	0.69260	0.3091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59096	-0.7518	9	0.02654	T	1	.	5.9988	0.19509	0.4674:0.0:0.5326:0.0	.	7	P35030-4	.	N	5;7	ENSP00000401249:S5N;ENSP00000340889:S7N	ENSP00000340889:S7N	S	+	2	0	PRSS3	33784809	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.129000	0.03244	-0.673000	0.05259	-1.096000	0.02151	AGT	PRSS3	-	NULL		0.502	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	G	NM_002771		33794809	+1	no_errors	ENST00000342836	ensembl	human	known	70_37	missense	SNP	0.000	A
PRSS3	5646	genome.wustl.edu	37	9	33794812	33794812	+	Intron	SNP	G	G	T	rs199873220		TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr9:33794812G>T	ENST00000361005.5	+	2	211				PRSS3_ENST00000342836.4_Missense_Mutation_p.G8V|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000379405.3_5'Flank	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GAGACAAGTGGCTTCACATTG	0.498																																																	0																																										SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1829G>T	9.37:g.33794812G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G8V	ENST00000361005.5	37	c.23	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320550	0.01320	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88509	-2.3;-2.39	2.24	-2.08	0.07254	.	.	.	.	.	T	0.72028	0.3410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56986	-0.7888	9	0.30854	T	0.27	.	3.8571	0.08981	0.0:0.1534:0.4698:0.3769	.	8	P35030-4	.	V	6;8	ENSP00000401249:G6V;ENSP00000340889:G8V	ENSP00000340889:G8V	G	+	2	0	PRSS3	33784812	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.474000	0.06607	-0.454000	0.07066	-0.886000	0.02939	GGC	PRSS3	-	NULL		0.498	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	G	NM_002771		33794812	+1	no_errors	ENST00000342836	ensembl	human	known	70_37	missense	SNP	0.000	T
RETSAT	54884	genome.wustl.edu	37	2	85577274	85577274	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr2:85577274G>A	ENST00000295802.4	-	4	800	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	RETSAT_ENST00000263854.6_Missense_Mutation_p.R230C|RETSAT_ENST00000457495.2_Missense_Mutation_p.R169C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	230					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAGAGAAACGAGTCAGCAGC	0.587																																																	0													90.0	88.0	89.0					2																	85577274		2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.688C>T	2.37:g.85577274G>A	ENSP00000295802:p.Arg230Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.R230C	ENST00000295802.4	37	c.688	CCDS1972.1	2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209876	0.58343	.	.	ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495	T;T;T	0.60171	0.21;0.21;0.21	5.82	1.55	0.23275	.	0.462761	0.24759	N	0.035838	T	0.65709	0.2717	M	0.76574	2.34	0.18873	N	0.999982	D;D	0.71674	0.998;0.99	P;P	0.57776	0.827;0.586	T	0.55982	-0.8054	10	0.39692	T	0.17	-0.0376	8.3234	0.32142	0.4286:0.0:0.5714:0.0	.	169;230	G5E9N3;Q6NUM9	.;RETST_HUMAN	C	230;230;169	ENSP00000295802:R230C;ENSP00000263854:R230C;ENSP00000405040:R169C	ENSP00000263854:R230C	R	-	1	0	RETSAT	85430785	0.000000	0.05858	0.010000	0.14722	0.972000	0.66771	0.348000	0.20031	0.394000	0.25230	0.655000	0.94253	CGT	RETSAT	-	pfam_FAD-dep_OxRdtase		0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	G	NM_017750		85577274	-1	no_errors	ENST00000295802	ensembl	human	known	70_37	missense	SNP	0.000	A
TSHZ1	10194	genome.wustl.edu	37	18	72999335	72999335	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr18:72999335C>T	ENST00000580243.1	+	2	2321	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P613L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	658					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GAGGAGAGACCCCCTGAGAAG	0.577																																																	0													106.0	91.0	96.0					18																	72999335		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1973C>T	18.37:g.72999335C>T	ENSP00000464391:p.Pro658Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.P658L	ENST00000580243.1	37	c.1973		18	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101744	0.08731	.	.	ENSG00000179981	ENST00000322038	T	0.25085	1.82	4.79	3.01	0.34805	.	0.288700	0.34676	N	0.003771	T	0.16214	0.0390	N	0.22421	0.69	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.28744	-1.0034	10	0.39692	T	0.17	-15.311	8.5295	0.33326	0.0:0.7628:0.0:0.2372	.	658	Q6ZSZ6	TSH1_HUMAN	L	613	ENSP00000323584:P613L	ENSP00000323584:P613L	P	+	2	0	TSHZ1	71128323	0.460000	0.25776	0.001000	0.08648	0.979000	0.70002	2.065000	0.41442	-1.488000	0.01847	0.561000	0.74099	CCC	TSHZ1	-	NULL		0.577	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	C	NM_005786		72999335	+1	no_errors	ENST00000580243	ensembl	human	known	70_37	missense	SNP	0.000	T
ZFP62	643836	genome.wustl.edu	37	5	180276040	180276040	+	Missense_Mutation	SNP	T	T	C			TCGA-HM-A3JJ-01A-21D-A21Q-09	TCGA-HM-A3JJ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0addff5-04c1-4eef-afab-12566d18015f	28db5b6a-4a7b-4308-b7c8-7d43b4c4e503	g.chr5:180276040T>C	ENST00000502412.1	-	2	2512	c.2455A>G	c.(2455-2457)Aaa>Gaa	p.K819E	ZFP62_ENST00000512132.1_Missense_Mutation_p.K786E|ZFP62_ENST00000359141.6_Missense_Mutation_p.K759E|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAAGGATTTCCCACACTCA	0.423																																																	0													149.0	118.0	127.0					5																	180276040		692	1591	2283	SO:0001583	missense	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2455A>G	5.37:g.180276040T>C	ENSP00000423820:p.Lys819Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K786E	ENST00000502412.1	37	c.2356	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460480	0.63401	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.07567	3.18;3.18;3.18	4.56	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30634	0.0771	M	0.83012	2.62	0.31900	N	0.616121	D	0.89917	1.0	D	0.79784	0.993	T	0.35450	-0.9788	9	0.72032	D	0.01	.	12.5321	0.56122	0.0:0.0:0.0:1.0	.	819	Q8NB50	ZFP62_HUMAN	E	786;759;819;417	ENSP00000426193:K786E;ENSP00000352053:K759E;ENSP00000423820:K819E	ENSP00000352053:K759E	K	-	1	0	ZFP62	180208646	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	4.094000	0.57721	2.272000	0.75746	0.460000	0.39030	AAA	ZFP62	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	T	NM_152283		180276040	-1	no_errors	ENST00000512132	ensembl	human	known	70_37	missense	SNP	1.000	C
