#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_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
ABCA12	26154	genome.wustl.edu	37	2	215835046	215835046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:215835046G>A	ENST00000272895.7	-	37	5860	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R1563*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1881					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCCACTCGTTGCCCAGTG	0.313																																					Ovarian(66;664 1488 5121 34295)												0			GRCh37	CM064932	ABCA12	M							94.0	96.0	95.0					2																	215835046		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5641C>T	2.37:g.215835046G>A	ENSP00000272895:p.Arg1881*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1881*	ENST00000272895.7	37	c.5641	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.420403	0.99166	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.23	5.23	0.72850	.	0.842379	0.10778	N	0.635221	.	.	.	.	.	.	0.26289	N	0.978158	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0908	0.36610	0.0:0.1348:0.6107:0.2545	.	.	.	.	X	1881;1563	.	ENSP00000272895:R1881X	R	-	1	2	ABCA12	215543291	0.945000	0.32115	0.446000	0.26920	0.179000	0.23085	1.576000	0.36504	2.605000	0.88082	0.650000	0.86243	CGA	ABCA12	-	NULL		0.313	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215835046	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	0.138	A
ADAMTS20	80070	genome.wustl.edu	37	12	43856750	43856750	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr12:43856750C>T	ENST00000389420.3	-	11	1561	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C521Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	521	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGAGTGAAACAGCCTTTGTG	0.453																																																	0													160.0	125.0	137.0					12																	43856750		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1562G>A	12.37:g.43856750C>T	ENSP00000374071:p.Cys521Tyr		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C521Y	ENST00000389420.3	37	c.1562	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903945	0.52333	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07021	3.23;3.23	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000019	T	0.46347	0.1388	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67639	-0.5619	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	521	P59510	ATS20_HUMAN	Y	521	ENSP00000374071:C521Y;ENSP00000448341:C521Y	ENSP00000374068:C521Y	C	-	2	0	ADAMTS20	42143017	1.000000	0.71417	0.974000	0.42286	0.036000	0.12997	7.349000	0.79376	2.555000	0.86185	0.655000	0.94253	TGT	ADAMTS20	-	NULL		0.453	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43856750	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD13C	81573	genome.wustl.edu	37	1	70736563	70736563	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:70736563G>T	ENST00000370944.4	-	12	1784	c.1471C>A	c.(1471-1473)Cct>Act	p.P491T	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P456T	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	491					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAGCCTGGAGGAAGCTTCATC	0.299																																																	0													58.0	61.0	60.0					1																	70736563		2200	4299	6499	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1471C>A	1.37:g.70736563G>T	ENSP00000359982:p.Pro491Thr		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P491T	ENST00000370944.4	37	c.1471	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005132	0.93287	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.57907	0.37;0.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.83172	-0.0093	10	0.87932	D	0	-14.7525	20.1519	0.98089	0.0:0.0:1.0:0.0	.	456;491	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	T	491;456	ENSP00000359982:P491T;ENSP00000262346:P456T	ENSP00000262346:P456T	P	-	1	0	ANKRD13C	70509151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.861000	0.98227	0.655000	0.94253	CCT	ANKRD13C	-	pfam_ANKRD13		0.299	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	G	NM_030816		70736563	-1	no_errors	ENST00000370944	ensembl	human	known	70_37	missense	SNP	1.000	T
ANO6	196527	genome.wustl.edu	37	12	45751137	45751137	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr12:45751137C>T	ENST00000320560.8	+	8	1130	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ANO6_ENST00000441606.2_Missense_Mutation_p.L292F|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.L310F|ANO6_ENST00000435642.1_Missense_Mutation_p.L310F|ANO6_ENST00000423947.3_Missense_Mutation_p.L331F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	310					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCAGATGCTTCTCCTGGCCGC	0.403																																																	0													129.0	129.0	129.0					12																	45751137		2203	4300	6503	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.928C>T	12.37:g.45751137C>T	ENSP00000320087:p.Leu310Phe		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.L310F	ENST00000320560.8	37	c.928	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000376	0.02128	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.26	4.37	0.52481	.	0.448978	0.24996	N	0.033941	T	0.53302	0.1788	L	0.37561	1.115	0.09310	N	1	B;B;B;B	0.16166	0.0;0.0;0.005;0.016	B;B;B;B	0.22386	0.004;0.004;0.01;0.039	T	0.38090	-0.9677	10	0.23302	T	0.38	.	9.0868	0.36586	0.2286:0.6964:0.0:0.0749	.	292;331;310;310	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	F	310;331;310;310;292	ENSP00000391417:L310F;ENSP00000409126:L331F;ENSP00000413840:L310F;ENSP00000320087:L310F;ENSP00000413137:L292F	ENSP00000320087:L310F	L	+	1	0	ANO6	44037404	0.001000	0.12720	0.195000	0.23364	0.925000	0.55904	0.430000	0.21428	1.540000	0.49301	0.655000	0.94253	CTC	ANO6	-	pfam_Anoctamin		0.403	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	C	XM_113743		45751137	+1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	0.011	T
ARSJ	79642	genome.wustl.edu	37	4	114823522	114823522	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr4:114823522C>G	ENST00000315366.7	-	2	2574	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	ARSJ_ENST00000541197.1_Missense_Mutation_p.E570Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	570					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		tgctttttctcagcctgattt	0.428																																																	0													73.0	62.0	66.0					4																	114823522		1841	4094	5935	SO:0001583	missense	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1708G>C	4.37:g.114823522C>G	ENSP00000320219:p.Glu570Gln		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E570Q	ENST00000315366.7	37	c.1708	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	C	0.824	-0.747564	0.03065	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97041	-4.22;-4.22	5.41	-0.627	0.11541	.	0.947285	0.08650	U	0.914212	D	0.91395	0.7285	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80453	-0.1376	10	0.15952	T	0.53	.	6.1411	0.20261	0.0:0.4481:0.1223:0.4296	.	570;570	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	Q	570;570;139	ENSP00000320219:E570Q;ENSP00000438836:E570Q	ENSP00000320219:E570Q	E	-	1	0	ARSJ	115042971	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	0.265000	0.18515	-0.531000	0.06340	-0.137000	0.14449	GAG	ARSJ	-	NULL		0.428	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	C	NM_024590		114823522	-1	no_errors	ENST00000315366	ensembl	human	known	70_37	missense	SNP	0.000	G
C16orf90	646174	genome.wustl.edu	37	16	3544593	3544593	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:3544593C>A	ENST00000437192.3	-	2	333	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	101										large_intestine(1)	1						TTACGTGGGCCCAGAGTCCCC	0.667																																																	0													25.0	26.0	26.0					16																	3544593		1937	4121	6058	SO:0001583	missense	646174				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.331G>T	16.37:g.3544593C>A	ENSP00000401335:p.Gly111Cys			Missense_Mutation	SNP	NULL	p.G111C	ENST00000437192.3	37	c.331	CCDS45397.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.29|18.29	3.591830|3.591830	0.66219|0.66219	.|.	.|.	ENSG00000215131|ENSG00000215131	ENST00000437192|ENST00000399645	.|.	.|.	.|.	5.61|5.61	-0.832|-0.832	0.10785|0.10785	.|.	1.027120|1.027120	0.07856|0.07856	U|U	0.965463|0.965463	T|T	0.41465|0.41465	0.1160|0.1160	M|M	0.65975|0.65975	2.015|2.015	0.28012|0.28012	N|N	0.934885|0.934885	D|.	0.76494|.	0.999|.	D|.	0.63192|.	0.912|.	T|T	0.47182|0.47182	-0.9137|-0.9137	9|6	0.66056|.	D|.	0.02|.	-14.0359|-14.0359	1.9474|1.9474	0.03359|0.03359	0.1381:0.4514:0.1354:0.2751|0.1381:0.4514:0.1354:0.2751	.|.	111|.	A8MZG2-2|.	.|.	C|V	111|119	.|.	ENSP00000401335:G111C|.	G|G	-|-	1|2	0|0	C16orf90|C16orf90	3484594|3484594	0.001000|0.001000	0.12720|0.12720	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	0.062000|0.062000	0.14389|0.14389	0.223000|0.223000	0.20920|0.20920	0.655000|0.655000	0.94253|0.94253	GGC|GGG	C16orf90	-	NULL		0.667	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf90	HGNC	protein_coding	OTTHUMT00000346319.2	C	NM_001080524		3544593	-1	no_errors	ENST00000437192	ensembl	human	known	70_37	missense	SNP	0.978	A
CAPRIN1	4076	genome.wustl.edu	37	11	34074229	34074229	+	Intron	SNP	C	C	G			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr11:34074229C>G	ENST00000341394.4	+	2	405				CAPRIN1_ENST00000389645.3_Intron|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000530820.1_Intron|CAPRIN1_ENST00000532820.1_Intron	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1						negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CGGCCGGGCTCTGCGGCCCCT	0.647																																																	0													9.0	8.0	8.0					11																	34074229		2139	4232	6371	SO:0001627	intron_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.216+46C>G	11.37:g.34074229C>G			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	RNA	SNP	-	NULL	ENST00000341394.4	37	NULL	CCDS31453.1	11																																																																																			CAPRIN1	-	-		0.647	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34074229	+1	no_errors	ENST00000526477	ensembl	human	putative	70_37	rna	SNP	0.001	G
CCT5	22948	genome.wustl.edu	37	5	10264873	10264873	+	Missense_Mutation	SNP	A	A	G			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:10264873A>G	ENST00000280326.4	+	11	2024	c.1604A>G	c.(1603-1605)aAg>aGg	p.K535R	CCT5_ENST00000515390.1_Missense_Mutation_p.K480R|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.K442R|CCT5_ENST00000515676.1_Missense_Mutation_p.K497R|CCT5_ENST00000503026.1_Missense_Mutation_p.K514R	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	535					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GACATTCGTAAGCCTGGAGAA	0.363																																																	0													139.0	141.0	140.0					5																	10264873		2203	4300	6503	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1604A>G	5.37:g.10264873A>G	ENSP00000280326:p.Lys535Arg		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.K535R	ENST00000280326.4	37	c.1604	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917379	0.33815	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.56941	0.43;0.58;2.64;0.58;2.64	5.28	5.28	0.74379	.	0.225078	0.51477	D	0.000094	T	0.36248	0.0960	N	0.21373	0.66	0.28597	N	0.909362	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.17098	0.017;0.011;0.003	T	0.24799	-1.0150	10	0.56958	D	0.05	-33.7422	6.5874	0.22628	0.8273:0.0:0.1727:0.0	.	442;480;535	B4DYD8;E7ENZ3;P48643	.;.;TCPE_HUMAN	R	535;514;480;508;497;442	ENSP00000280326:K535R;ENSP00000423318:K514R;ENSP00000426923:K480R;ENSP00000427297:K497R;ENSP00000423052:K442R	ENSP00000280326:K535R	K	+	2	0	CCT5	10317873	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.327000	0.52045	2.130000	0.65690	0.451000	0.29950	AAG	CCT5	-	superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi		0.363	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	A			10264873	+1	no_errors	ENST00000280326	ensembl	human	known	70_37	missense	SNP	1.000	G
CMYA5	202333	genome.wustl.edu	37	5	79033976	79033976	+	Missense_Mutation	SNP	A	A	G			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:79033976A>G	ENST00000446378.2	+	2	9419	c.9388A>G	c.(9388-9390)Acc>Gcc	p.T3130A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3130					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCATCCAGAGACCCAAAGCCA	0.418																																																	0													53.0	52.0	52.0					5																	79033976		1861	4104	5965	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9388A>G	5.37:g.79033976A>G	ENSP00000394770:p.Thr3130Ala		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T3130A	ENST00000446378.2	37	c.9388	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	2.073	-0.412548	0.04799	.	.	ENSG00000164309	ENST00000446378	T	0.17854	2.25	5.83	1.69	0.24217	.	0.585642	0.15708	N	0.248544	T	0.15262	0.0368	M	0.68317	2.08	0.09310	N	1	B	0.27229	0.172	B	0.19391	0.025	T	0.23619	-1.0183	10	0.54805	T	0.06	.	3.1666	0.06538	0.5635:0.2132:0.0771:0.1463	.	3130	Q8N3K9	CMYA5_HUMAN	A	3130	ENSP00000394770:T3130A	ENSP00000394770:T3130A	T	+	1	0	CMYA5	79069732	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.231000	0.17872	0.407000	0.25591	0.528000	0.53228	ACC	CMYA5	-	NULL		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79033976	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.000	G
CNTRL	11064	genome.wustl.edu	37	9	123877440	123877440	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr9:123877440G>A	ENST00000373855.1	+	11	1677	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E473K|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	473					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCTACTGAAGAATTTAAACA	0.333																																																	0													80.0	82.0	82.0					9																	123877440		2202	4298	6500	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1417G>A	9.37:g.123877440G>A	ENSP00000362962:p.Glu473Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E473K	ENST00000373855.1	37	c.1417	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952661	0.92660	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.30714	1.52;1.52	5.09	5.09	0.68999	.	.	.	.	.	T	0.54631	0.1870	M	0.64997	1.995	0.42313	D	0.99222	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.57148	-0.7861	9	0.66056	D	0.02	.	17.8752	0.88823	0.0:0.0:1.0:0.0	.	473;473	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	K	473	ENSP00000362962:E473K;ENSP00000238341:E473K	ENSP00000238341:E473K	E	+	1	0	CNTRL	122917261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.805000	0.75191	2.537000	0.85549	0.655000	0.94253	GAA	CNTRL	-	NULL		0.333	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123877440	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75843579	75843579	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr6:75843579C>T	ENST00000322507.8	-	33	5968	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K	COL12A1_ENST00000416123.2_Missense_Mutation_p.E1887K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E723K|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1887K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1887	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTACCAGTTCCTCTGGACCA	0.433																																																	0													88.0	85.0	86.0					6																	75843579		1885	4115	6000	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5659G>A	6.37:g.75843579C>T	ENSP00000325146:p.Glu1887Lys		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E1887K	ENST00000322507.8	37	c.5659	CCDS43482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342773|4.342773	0.82022|0.82022	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55|.	5.86|5.86	4.98|4.98	0.66077|0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.077432|.	0.53938|.	D|.	0.000059|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.28649|0.28649	0.875|0.875	0.49389|0.49389	D|D	0.999783|0.999783	B;P|.	0.42735|.	0.079;0.788|.	B;P|.	0.45167|.	0.069;0.472|.	T|T	0.40384|0.40384	-0.9566|-0.9566	10|5	0.21014|.	T|.	0.42|.	.|.	16.9656|16.9656	0.86285|0.86285	0.0:0.8722:0.1278:0.0|0.0:0.8722:0.1278:0.0	.|.	723;1887|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|E	1887;1887;723;1887;1887|621	ENSP00000325146:E1887K;ENSP00000305147:E723K;ENSP00000412864:E1887K;ENSP00000421216:E1887K|.	ENSP00000325146:E1887K|.	E|G	-|-	1|2	0|0	COL12A1|COL12A1	75900299|75900299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	4.663000|4.663000	0.61532|0.61532	1.463000|1.463000	0.47967|0.47967	0.655000|0.655000	0.94253|0.94253	GAA|GGA	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75843579	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	T
LOC730338	730338	genome.wustl.edu	37	7	46728852	46728852	+	3'UTR	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr7:46728852G>T	ENST00000451905.1	-	0	571				AC011294.3_ENST00000469937.1_5'UTR																							AATTTGAGGTGCTTGAAGGTC	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000451905.1:c.*146C>A	7.37:g.46728852G>T				RNA	SNP	-	NULL	ENST00000451905.1	37	NULL		7																																																																																			AC011294.3	-	-		0.413	AC011294.3-003	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000233539	Clone_based_vega_gene	protein_coding	OTTHUMT00000340262.1	G			46728852	-1	no_errors	ENST00000469937	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-690I21.2	0	genome.wustl.edu	37	2	232677017	232677018	+	RNA	INS	-	-	A	rs532945700		TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:232677017_232677018insA	ENST00000563949.1	+	0	2462_2463																											TTGACTTGCTGAAAAAAAAAAA	0.371																																																	0																																												0																															2.37:g.232677028_232677028dupA				RNA	INS	-	NULL	ENST00000563949.1	37	NULL		2																																																																																			RP11-690I21.2	-	-		0.371	RP11-690I21.2-001	KNOWN	basic	sense_overlapping	ENSG00000261096	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000431716.1	-			232677018	+1	no_errors	ENST00000563949	ensembl	human	known	70_37	rna	INS	0.014:0.017	A
EPN3	55040	genome.wustl.edu	37	17	48618234	48618234	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr17:48618234G>A	ENST00000268933.3	+	7	1639	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.V382I|EPN3_ENST00000541226.1_Silent_p.P241P	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	354	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTCAGGAACCGTCCTGTCCCG	0.637																																																	0													48.0	49.0	49.0					17																	48618234		2203	4300	6503	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1060G>A	17.37:g.48618234G>A	ENSP00000268933:p.Val354Ile		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.V382I	ENST00000268933.3	37	c.1144	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	G	1.293	-0.607099	0.03717	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.13901	2.55;2.55	5.23	-6.66	0.01789	.	2.837540	0.01592	N	0.021601	T	0.05593	0.0147	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.21381	0.01;0.055;0.003	B;B;B	0.14578	0.003;0.011;0.001	T	0.33523	-0.9865	10	0.31617	T	0.26	0.0845	9.5224	0.39143	0.1907:0.2284:0.5808:0.0	.	382;382;354	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	I	354;382;382	ENSP00000268933:V354I;ENSP00000439512:V382I	ENSP00000268933:V354I	V	+	1	0	EPN3	45973233	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.715000	0.04997	-0.775000	0.04584	-1.342000	0.01247	GTC	EPN3	-	NULL		0.637	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	G	NM_017957		48618234	+1	no_errors	ENST00000537145	ensembl	human	known	70_37	missense	SNP	0.000	A
GAS2	2620	genome.wustl.edu	37	11	22759271	22759271	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr11:22759271G>C	ENST00000454584.2	+	5	735	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	GAS2_ENST00000433790.1_Missense_Mutation_p.E144Q|GAS2_ENST00000278187.3_Missense_Mutation_p.E144Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	144	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCAACCCAGAGAAGTGTGTCT	0.493																																																	0													183.0	157.0	166.0					11																	22759271		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.430G>C	11.37:g.22759271G>C	ENSP00000401145:p.Glu144Gln		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.E144Q	ENST00000454584.2	37	c.430	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882887	0.33255	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.64	5.64	0.86602	Calponin homology domain (5);	0.051089	0.85682	D	0.000000	D	0.84817	0.5556	N	0.01297	-0.9	0.49299	D	0.999778	B	0.29508	0.246	B	0.37091	0.241	T	0.83218	-0.0070	10	0.06099	T	0.92	-19.4183	17.5008	0.87731	0.0:0.0:1.0:0.0	.	144	O43903	GAS2_HUMAN	Q	144	ENSP00000432584:E144Q;ENSP00000401145:E144Q;ENSP00000278187:E144Q;ENSP00000433182:E144Q;ENSP00000435946:E144Q;ENSP00000396708:E144Q	ENSP00000278187:E144Q	E	+	1	0	GAS2	22715847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.950000	0.75977	2.664000	0.90586	0.650000	0.86243	GAA	GAS2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.493	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	G	NM_177553		22759271	+1	no_errors	ENST00000278187	ensembl	human	known	70_37	missense	SNP	1.000	C
FOLH1	2346	genome.wustl.edu	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61.0	61.0	61.0					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G
GHR	2690	genome.wustl.edu	37	5	42719441	42719441	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr5:42719441C>T	ENST00000230882.4	+	10	2022	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V	GHR_ENST00000357703.3_Missense_Mutation_p.A589V|GHR_ENST00000537449.1_Missense_Mutation_p.A424V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	611					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATACTCAATGCGACTGCCTTG	0.488																																																	0													102.0	92.0	95.0					5																	42719441		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1832C>T	5.37:g.42719441C>T	ENSP00000230882:p.Ala611Val		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A611V	ENST00000230882.4	37	c.1832	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212784	0.79352	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.40476	1.03;1.03;1.03	6.08	6.08	0.98989	.	0.149132	0.64402	D	0.000008	T	0.73094	0.3543	H	0.94964	3.605	0.47341	D	0.999396	D	0.61697	0.99	P	0.58721	0.844	T	0.79776	-0.1661	10	0.72032	D	0.01	-15.3882	20.6721	0.99693	0.0:1.0:0.0:0.0	.	611	P10912	GHR_HUMAN	V	611;589;424	ENSP00000230882:A611V;ENSP00000350335:A589V;ENSP00000442206:A424V	ENSP00000230882:A611V	A	+	2	0	GHR	42755198	0.993000	0.37304	0.559000	0.28332	0.947000	0.59692	6.011000	0.70760	2.894000	0.99253	0.591000	0.81541	GCG	GHR	-	NULL		0.488	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42719441	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	0.972	T
GLTSCR1	29998	genome.wustl.edu	37	19	48204833	48204833	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:48204833G>A	ENST00000396720.3	+	15	4038	c.3844G>A	c.(3844-3846)Gac>Aac	p.D1282N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1282										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ctcctcctTGGACGCCGACGA	0.711																																																	0													5.0	8.0	7.0					19																	48204833		2000	4084	6084	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3844G>A	19.37:g.48204833G>A	ENSP00000379946:p.Asp1282Asn		A8MW01	Missense_Mutation	SNP	NULL	p.D1282N	ENST00000396720.3	37	c.3844	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701755	0.30142	.	.	ENSG00000063169	ENST00000396720	T	0.34072	1.38	3.45	2.39	0.29439	.	.	.	.	.	T	0.28732	0.0712	L	0.27053	0.805	0.33802	D	0.626838	B	0.29716	0.255	B	0.35510	0.204	T	0.42699	-0.9436	9	0.62326	D	0.03	.	10.8725	0.46891	0.0:0.0:0.8098:0.1902	.	1282	Q9NZM4	GSCR1_HUMAN	N	1282	ENSP00000379946:D1282N	ENSP00000379946:D1282N	D	+	1	0	GLTSCR1	52896645	1.000000	0.71417	0.786000	0.31890	0.221000	0.24807	3.166000	0.50785	0.638000	0.30545	0.313000	0.20887	GAC	GLTSCR1	-	NULL		0.711	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	G	NM_015711		48204833	+1	no_errors	ENST00000396720	ensembl	human	known	70_37	missense	SNP	0.942	A
HK2	3099	genome.wustl.edu	37	2	75101407	75101407	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:75101407G>T	ENST00000290573.2	+	7	1306	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	HK2_ENST00000409174.1_Missense_Mutation_p.A208S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	236	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGGCAGCAACGCCTGCTACAT	0.607																																																	0													53.0	51.0	51.0					2																	75101407		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.706G>T	2.37:g.75101407G>T	ENSP00000290573:p.Ala236Ser		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.A236S	ENST00000290573.2	37	c.706	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.118701	0.94385	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97328	-4.34;-4.34	4.63	4.63	0.57726	Hexokinase, C-terminal (1);	0.102325	0.64402	D	0.000002	D	0.98308	0.9439	M	0.84219	2.685	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.98965	1.0799	10	0.87932	D	0	-24.5051	15.3755	0.74602	0.0:0.0:1.0:0.0	.	236	P52789	HXK2_HUMAN	S	236;236;208	ENSP00000290573:A236S;ENSP00000387140:A208S	ENSP00000290573:A236S	A	+	1	0	HK2	74954915	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	9.601000	0.98297	2.561000	0.86390	0.655000	0.94253	GCC	HK2	-	pfam_Hexokinase_C		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	G	NM_000189		75101407	+1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	1.000	T
IKBKB	3551	genome.wustl.edu	37	8	42174278	42174278	+	Silent	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr8:42174278G>T	ENST00000520810.1	+	11	1167	c.981G>T	c.(979-981)gtG>gtT	p.V327V	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.V104V|IKBKB_ENST00000520835.1_Silent_p.V325V|IKBKB_ENST00000416505.2_Silent_p.V268V	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	327					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCTACCCTGTGACAGAGGATG	0.542																																																	0													75.0	66.0	69.0					8																	42174278		2203	4300	6503	SO:0001819	synonymous_variant	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.981G>T	8.37:g.42174278G>T			B4DZ30|B4E0U4|O75327	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V327	ENST00000520810.1	37	c.981	CCDS6128.1	8																																																																																			IKBKB	-	superfamily_Kinase-like_dom,pfscan_Ubiquitin_supergroup		0.542	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42174278	+1	no_errors	ENST00000520810	ensembl	human	known	70_37	silent	SNP	0.332	T
KIF2C	11004	genome.wustl.edu	37	1	45216175	45216175	+	Silent	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:45216175G>A	ENST00000372224.4	+	5	491	c.378G>A	c.(376-378)gaG>gaA	p.E126E	KIF2C_ENST00000372222.3_Silent_p.E13E|KIF2C_ENST00000372218.4_Silent_p.E126E|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372217.1_Silent_p.E72E	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	126	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGGCTCAGGAGAATGACATGG	0.567																																																	0													87.0	81.0	83.0					1																	45216175		2203	4300	6503	SO:0001819	synonymous_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.378G>A	1.37:g.45216175G>A			B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E126	ENST00000372224.4	37	c.378	CCDS512.1	1																																																																																			KIF2C	-	NULL		0.567	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45216175	+1	no_errors	ENST00000372224	ensembl	human	known	70_37	silent	SNP	1.000	A
MMP24	10893	genome.wustl.edu	37	20	33855066	33855066	+	Silent	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr20:33855066G>A	ENST00000246186.6	+	6	1123	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	346					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCGTCCGCAGGATCCACTCAC	0.667																																																	0													20.0	25.0	24.0					20																	33855066		1912	4111	6023	SO:0001819	synonymous_variant	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1038G>A	20.37:g.33855066G>A			B7ZBG8|Q9H440	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R346	ENST00000246186.6	37	c.1038	CCDS46593.1	20																																																																																			MMP24	-	pirsf_Pept_M10A_matrix_strom		0.667	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	G	NM_006690		33855066	+1	no_errors	ENST00000246186	ensembl	human	known	70_37	silent	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9068304	9068304	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:9068304G>A	ENST00000397910.4	-	3	19345	c.19142C>T	c.(19141-19143)tCa>tTa	p.S6381L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6383	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGTGTCTGAGGATGAGCC	0.473																																																	0													86.0	82.0	83.0					19																	9068304		1957	4144	6101	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19142C>T	19.37:g.9068304G>A	ENSP00000381008:p.Ser6381Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6381L	ENST00000397910.4	37	c.19142	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.462	0.453355	0.12283	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.36	-3.85	0.04243	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.47837	-0.9086	8	0.87932	D	0	.	0.329	0.00315	0.3015:0.2256:0.2828:0.1902	.	6381	B5ME49	.	L	6381	ENSP00000381008:S6381L	ENSP00000381008:S6381L	S	-	2	0	MUC16	8929304	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.227000	0.09126	-0.673000	0.05259	0.177000	0.17058	TCA	MUC16	-	NULL		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9068304	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
NBEA	26960	genome.wustl.edu	37	13	36220012	36220012	+	Intron	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr13:36220012G>T	ENST00000400445.3	+	50	8151				NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379922.3_Nonsense_Mutation_p.E99*|NBEA_ENST00000537702.1_Intron	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin						protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGATTCCAGAAGCTTATTT	0.323																																																	0													11.0	12.0	12.0					13																	36220012		874	1987	2861	SO:0001627	intron_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7618-384G>T	13.37:g.36220012G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.E99*	ENST00000400445.3	37	c.295	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.395336	0.97533	.	.	ENSG00000172915	ENST00000402346;ENST00000379922	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.6214	0.91322	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000369254:E99X	E	+	1	0	NBEA	35118012	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.768000	0.62293	2.403000	0.81681	0.557000	0.71058	GAA	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		36220012	+1	no_errors	ENST00000379922	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NDE1	54820	genome.wustl.edu	37	16	15790663	15790663	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:15790663G>C	ENST00000396353.2	+	9	1719	c.893G>C	c.(892-894)aGa>aCa	p.R298T	NDE1_ENST00000396354.1_Missense_Mutation_p.R298T|NDE1_ENST00000396355.1_Missense_Mutation_p.R298T|NDE1_ENST00000342673.5_Missense_Mutation_p.R298T			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	298					centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGCAAGAACAGAGATGGCGGG	0.607																																																	0													78.0	77.0	77.0					16																	15790663		2197	4300	6497	SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.893G>C	16.37:g.15790663G>C	ENSP00000379641:p.Arg298Thr		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.R298T	ENST00000396353.2	37	c.893		16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975284	0.74360	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.56	5.56	0.83823	NUDE protein, C-terminal (1);	0.204674	0.51477	D	0.000092	T	0.68329	0.2989	M	0.70595	2.14	0.50813	D	0.999897	P;P	0.48589	0.912;0.608	P;B	0.47603	0.551;0.175	T	0.65446	-0.6166	9	0.22109	T	0.4	-17.8583	18.5235	0.90962	0.0:0.0:1.0:0.0	.	298;298	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	T	298	.	ENSP00000345892:R298T	R	+	2	0	NDE1	15698164	1.000000	0.71417	0.994000	0.49952	0.337000	0.28794	7.263000	0.78421	2.607000	0.88179	0.655000	0.94253	AGA	NDE1	-	pfam_NUDE_C		0.607	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		G	NM_017668		15790663	+1	no_errors	ENST00000396353	ensembl	human	known	70_37	missense	SNP	1.000	C
NOTCH3	4854	genome.wustl.edu	37	19	15280981	15280981	+	Splice_Site	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr19:15280981C>T	ENST00000263388.2	-	28	5190	c.5115G>A	c.(5113-5115)aaG>aaA	p.K1705K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1705					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCATGTTCCTGGCGGACA	0.612																																																	0													39.0	28.0	32.0					19																	15280981		2203	4300	6503	SO:0001630	splice_region_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5115-1G>A	19.37:g.15280981C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.K1705	ENST00000263388.2	37	c.5115	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435	Silent	15280981	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	silent	SNP	1.000	T
OTOA	146183	genome.wustl.edu	37	16	21690532	21690532	+	Splice_Site	SNP	G	G	C			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:21690532G>C	ENST00000286149.4	+	4	180	c.179G>C	c.(178-180)aGc>aCc	p.S60T	OTOA_ENST00000388958.3_Splice_Site_p.S60T			Q7RTW8	OTOAN_HUMAN	otoancorin	60					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343																																																	0													95.0	98.0	97.0					16																	21690532		2198	4300	6498	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.179+1G>C	16.37:g.21690532G>C			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.S60T	ENST00000286149.4	37	c.179		16	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679640	0.68042	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.68025	-0.3;-0.3	5.99	5.99	0.97316	.	0.262435	0.39274	N	0.001416	T	0.67979	0.2951	L	0.59436	1.845	0.80722	D	1	P	0.39480	0.675	B	0.41813	0.367	T	0.70296	-0.4911	10	0.62326	D	0.03	-0.6554	16.0274	0.80553	0.0:0.0:1.0:0.0	.	60	E9PF51	.	T	60	ENSP00000373610:S60T;ENSP00000286149:S60T	ENSP00000286149:S60T	S	+	2	0	OTOA	21598033	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.862000	0.69560	2.846000	0.97976	0.644000	0.83932	AGC	OTOA	-	NULL		0.343	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	G		Missense_Mutation	21690532	+1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	1.000	C
NQO1	1728	genome.wustl.edu	37	16	69745052	69745052	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:69745052C>T	ENST00000320623.5	-	6	1163	c.652G>A	c.(652-654)Gag>Aag	p.E218K	NQO1_ENST00000564043.1_Missense_Mutation_p.E197K|NQO1_ENST00000379046.2_Missense_Mutation_p.E180K|snoU13_ENST00000459361.1_RNA|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.E146K|NQO1_ENST00000379047.3_Missense_Mutation_p.E184K|NQO1_ENST00000561500.1_Missense_Mutation_p.E180K	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	218					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AGTGGTGTCTCATCCCAAATA	0.443																																																	0													161.0	170.0	167.0					16																	69745052		2198	4300	6498	SO:0001583	missense	1728			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.652G>A	16.37:g.69745052C>T	ENSP00000319788:p.Glu218Lys		B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	pfam_Flavodoxin_fold,pfam_FMN_red	p.E218K	ENST00000320623.5	37	c.652	CCDS10883.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.518850	0.96416	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.41	5.41	0.78517	.	0.047534	0.85682	D	0.000000	T	0.28797	0.0714	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.87578	0.996;0.998;0.987;0.97	T	0.00468	-1.1721	10	0.28530	T	0.3	-27.0231	18.3313	0.90270	0.0:1.0:0.0:0.0	.	146;180;184;218	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	K	218;184;180;146	ENSP00000319788:E218K;ENSP00000368335:E184K;ENSP00000368334:E180K;ENSP00000398330:E146K	ENSP00000319788:E218K	E	-	1	0	NQO1	68302553	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.324000	0.79115	2.696000	0.92011	0.655000	0.94253	GAG	NQO1	-	NULL		0.443	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO1	HGNC	protein_coding	OTTHUMT00000268956.2	C			69745052	-1	no_errors	ENST00000320623	ensembl	human	known	70_37	missense	SNP	1.000	T
PER3	8863	genome.wustl.edu	37	1	7895971	7895971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:7895971G>T	ENST00000361923.2	+	19	3512	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	PER3_ENST00000377532.3_Nonsense_Mutation_p.E1122*	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1113					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGACACCTGAGCGCATTCT	0.398																																																	0													67.0	63.0	65.0					1																	7895971		2203	4300	6503	SO:0001587	stop_gained	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3337G>T	1.37:g.7895971G>T	ENSP00000355031:p.Glu1113*		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1113*	ENST00000361923.2	37	c.3337	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.427927	0.98279	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	.	.	.	3.98	3.04	0.35103	.	0.641883	0.14993	N	0.286599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.1524	0.36971	0.1072:0.0:0.8928:0.0	.	.	.	.	X	1122;1113;306	.	ENSP00000355031:E1113X	E	+	1	0	PER3	7818558	0.999000	0.42202	0.016000	0.15963	0.059000	0.15707	2.695000	0.47043	2.052000	0.61016	0.557000	0.71058	GAG	PER3	-	pfam_Period_circadian-like_C		0.398	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7895971	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	nonsense	SNP	0.287	T
LRRC7	57554	genome.wustl.edu	37	1	70385093	70385093	+	Intron	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:70385093C>T	ENST00000035383.5	+	6	563				PIN1P1_ENST00000412108.1_RNA|LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAGCCGCCCCTCAGGCCGAG	0.572																																																	0																																										SO:0001627	intron_variant	5301				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-12097C>T	1.37:g.70385093C>T			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-		0.572	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	C	NM_020794		70385093	+1	no_errors	ENST00000412108	ensembl	human	known	70_37	rna	SNP	0.026	T
PLEKHA1	59338	genome.wustl.edu	37	10	124190642	124190643	+	3'UTR	INS	-	-	T	rs397826975|rs80271676|rs36012040	byFrequency	TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr10:124190642_124190643insT	ENST00000368990.3	+	0	2534_2535				PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000433307.1_3'UTR|PLEKHA1_ENST00000368988.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1						androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAAGTACTGCttttttttttt	0.426													|||unknown(HR)	2328	0.464856	0.3351	0.5677	5008	,	,		19648	0.5377		0.4563	False		,,,				2504	0.501																0																																										SO:0001624	3_prime_UTR_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.*1189->T	10.37:g.124190653_124190653dupT			B3KQ55|D3DRE2|Q9BVK0	RNA	INS	-	NULL	ENST00000368990.3	37	NULL	CCDS7629.1	10																																																																																			PLEKHA1	-	-		0.426	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	-	NM_001001974		124190643	+1	no_errors	ENST00000479786	ensembl	human	known	70_37	rna	INS	0.026:0.007	T
SH3D19	152503	genome.wustl.edu	37	4	152054300	152054300	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr4:152054300C>G	ENST00000409252.2	-	16	2511	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	SH3D19_ENST00000409598.4_Missense_Mutation_p.E579Q|SH3D19_ENST00000424281.1_Missense_Mutation_p.E543Q|SH3D19_ENST00000427414.2_Missense_Mutation_p.E543Q|SH3D19_ENST00000455740.1_Missense_Mutation_p.E579Q|SH3D19_ENST00000304527.4_Missense_Mutation_p.E602Q|SH3D19_ENST00000514152.1_Missense_Mutation_p.E579Q			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	602	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCACATACTCTTTAAGAATA	0.443																																																	0													94.0	101.0	99.0					4																	152054300		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1804G>C	4.37:g.152054300C>G	ENSP00000386848:p.Glu602Gln		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.E602Q	ENST00000409252.2	37	c.1804	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581162	0.86748	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.36	5.36	0.76844	Src homology-3 domain (4);	0.000000	0.56097	D	0.000024	T	0.32315	0.0825	L	0.43152	1.355	0.50171	D	0.999853	P;P;B;P	0.52463	0.721;0.474;0.28;0.953	P;P;B;P	0.58391	0.525;0.494;0.203;0.838	T	0.00787	-1.1566	10	0.45353	T	0.12	-7.8212	19.0859	0.93202	0.0:1.0:0.0:0.0	.	602;579;543;357	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	Q	579;602;579;543;543;602;579	ENSP00000387030:E579Q;ENSP00000302913:E602Q;ENSP00000416708:E579Q;ENSP00000404542:E543Q;ENSP00000415694:E543Q;ENSP00000386848:E602Q;ENSP00000423449:E579Q	ENSP00000302913:E602Q	E	-	1	0	SH3D19	152273750	1.000000	0.71417	0.919000	0.36401	0.962000	0.63368	5.686000	0.68211	2.496000	0.84212	0.561000	0.74099	GAG	SH3D19	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.443	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	C	NM_001009555		152054300	-1	no_errors	ENST00000304527	ensembl	human	known	70_37	missense	SNP	1.000	G
SIM1	6492	genome.wustl.edu	37	6	100896461	100896461	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr6:100896461C>T	ENST00000369208.3	-	7	1419	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	SIM1_ENST00000262901.4_Missense_Mutation_p.V213M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	213					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGTGGCCCACGGCCACCAGG	0.592																																																	0													54.0	50.0	52.0					6																	100896461		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.637G>A	6.37:g.100896461C>T	ENSP00000358210:p.Val213Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.V213M	ENST00000369208.3	37	c.637	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.237026	0.95240	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74842	-0.88;-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85879	0.1421	10	0.51188	T	0.08	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	213	P81133	SIM1_HUMAN	M	213	ENSP00000358210:V213M;ENSP00000262901:V213M	ENSP00000262901:V213M	V	-	1	0	SIM1	101003182	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.487000	0.81328	2.614000	0.88457	0.655000	0.94253	GTG	SIM1	-	NULL		0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	C	NM_005068		100896461	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC5A11	115584	genome.wustl.edu	37	16	24922824	24922824	+	Silent	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr16:24922824C>T	ENST00000347898.3	+	16	2620	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	SLC5A11_ENST00000569071.1_Silent_p.C510C|SLC5A11_ENST00000545376.1_Silent_p.C596C|SLC5A11_ENST00000539472.1_Silent_p.C602C|SLC5A11_ENST00000568579.1_Silent_p.C596C|SLC5A11_ENST00000565769.1_Silent_p.C602C|SLC5A11_ENST00000449109.2_Silent_p.C510C|SLC5A11_ENST00000567758.1_Silent_p.C631C|SLC5A11_ENST00000424767.2_Silent_p.C631C	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.C666C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCGTGAGCTGCGCCATCTTTA	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											153.0	153.0	153.0					16																	24922824		2197	4300	6497	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1998C>T	16.37:g.24922824C>T				Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.C666	ENST00000347898.3	37	c.1998	CCDS10625.1	16																																																																																			SLC5A11	-	NULL		0.478	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	C	NM_052944		24922824	+1	no_errors	ENST00000347898	ensembl	human	known	70_37	silent	SNP	0.006	T
SMAD4	4089	genome.wustl.edu	37	18	48603032	48603032	+	Nonsense_Mutation	SNP	C	C	T	rs377767360		TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr18:48603032C>T	ENST00000342988.3	+	11	1871	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R445*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R349*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R445*(7)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGTGTCATCGACAGATGCA	0.458																																																	46	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)|Deletion - Frameshift(1)	pancreas(30)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)|NS(1)	GRCh37	CM000742	SMAD4	M							43.0	44.0	44.0					18																	48603032		2203	4300	6503	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1333C>T	18.37:g.48603032C>T	ENSP00000341551:p.Arg445*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R445*	ENST00000342988.3	37	c.1333	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.519426	0.99193	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000341551:R445X	R	+	1	2	SMAD4	46857030	1.000000	0.71417	0.643000	0.29450	0.984000	0.73092	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	CGA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48603032	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPATA31A1	647060	genome.wustl.edu	37	9	39361204	39361204	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr9:39361204G>A	ENST00000377647.3	+	4	3471	c.3442G>A	c.(3442-3444)Gtc>Atc	p.V1148I		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1148					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGATGAAGGCGTCCAGCTACT	0.423																																																	0													1.0	1.0	1.0					9																	39361204		330	878	1208	SO:0001583	missense	647060				CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 36"", ""family with sequence similarity 75, member A1"""	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3442G>A	9.37:g.39361204G>A	ENSP00000366875:p.Val1148Ile			Missense_Mutation	SNP	NULL	p.V1148I	ENST00000377647.3	37	c.3442	CCDS43808.1	9	.	.	.	.	.	.	.	.	.	.	G	4.313	0.057487	0.08339	.	.	ENSG00000204849	ENST00000377647	T	0.04083	3.71	1.74	-3.48	0.04739	.	2.346610	0.02153	N	0.058215	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	10	0.16420	T	0.52	13.5942	0.096	0.00044	0.3575:0.195:0.1845:0.263	.	1148	Q5TZJ5	F75A1_HUMAN	I	1148	ENSP00000366875:V1148I	ENSP00000366875:V1148I	V	+	1	0	FAM75A1	39351204	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-3.144000	0.00585	-2.178000	0.00768	0.134000	0.15878	GTC	SPATA31A1	-	NULL		0.423	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A1	HGNC	protein_coding	OTTHUMT00000036910.1	G	NM_001085452		39361204	+1	no_errors	ENST00000377647	ensembl	human	known	70_37	missense	SNP	0.000	A
TOMM7	54543	genome.wustl.edu	37	7	22857031	22857031	+	Intron	DEL	T	T	-			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr7:22857031delT	ENST00000358435.4	-	2	224				TOMM7_ENST00000372879.4_Splice_Site_p.T97fs|TOMM7_ENST00000463284.1_Intron|TOMM7_ENST00000405021.3_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AATTATTTACttttttttttt	0.378																																																	0																																										SO:0001627	intron_variant	54543			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+587A>-	7.37:g.22857031delT			O95939	Frame_Shift_Del	DEL	pfam_Tom7	p.T97fs	ENST00000358435.4	37	c.289	CCDS5376.1	7																																																																																			TOMM7	-	NULL		0.378	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1	T	NM_019059		22857031	-1	no_errors	ENST00000372879	ensembl	human	putative	70_37	frame_shift_del	DEL	0.100	-
TUBA8	51807	genome.wustl.edu	37	22	18609310	18609310	+	Silent	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr22:18609310C>T	ENST00000330423.3	+	4	638	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	TUBA8_ENST00000316027.6_Silent_p.L123L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	189					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CAACTCCATCCTGACCACCCA	0.542																																																	0													141.0	127.0	132.0					22																	18609310		2203	4300	6503	SO:0001819	synonymous_variant	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.565C>T	22.37:g.18609310C>T			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.L189	ENST00000330423.3	37	c.565	CCDS13751.1	22																																																																																			TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609310	+1	no_errors	ENST00000330423	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIOBP	11078	genome.wustl.edu	37	22	38130892	38130892	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr22:38130892G>C	ENST00000406386.3	+	9	4804	c.4549G>C	c.(4549-4551)Gag>Cag	p.E1517Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1517					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGCCCCCCTGAGAACTGGGG	0.647																																																	0													30.0	34.0	33.0					22																	38130892		1873	4092	5965	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4549G>C	22.37:g.38130892G>C	ENSP00000384312:p.Glu1517Gln		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1517Q	ENST00000406386.3	37	c.4549	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108720	0.20714	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20332	2.08	5.64	3.23	0.37069	.	.	.	.	.	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	P	0.48764	0.915	P	0.47603	0.551	T	0.04386	-1.0955	9	0.10377	T	0.69	.	8.5465	0.33424	0.2026:0.0:0.7974:0.0	.	1517	Q9H2D6	TARA_HUMAN	Q	1517;1478	ENSP00000384312:E1517Q	ENSP00000384312:E1517Q	E	+	1	0	TRIOBP	36460838	0.551000	0.26497	0.007000	0.13788	0.022000	0.10575	2.114000	0.41911	1.375000	0.46248	0.563000	0.77884	GAG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130892	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.001	C
UBR4	23352	genome.wustl.edu	37	1	19439131	19439131	+	Silent	SNP	C	C	T			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr1:19439131C>T	ENST00000375254.3	-	78	11715	c.11688G>A	c.(11686-11688)ttG>ttA	p.L3896L	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Silent_p.L3872L|UBR4_ENST00000375267.2_Silent_p.L3896L|UBR4_ENST00000375217.2_Silent_p.L3889L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3896					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGATGTGCCTCAAGGCTGGGT	0.597																																																	0													90.0	96.0	94.0					1																	19439131		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11688G>A	1.37:g.19439131C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L3896	ENST00000375254.3	37	c.11688	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19439131	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	0.998	T
ZNF2	7549	genome.wustl.edu	37	2	95847189	95847189	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A3L1-01A-11D-A21Q-09	TCGA-EX-A3L1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4	b42c3a13-affb-44db-b466-d88d9f3a5630	g.chr2:95847189G>A	ENST00000340539.5	+	5	1078	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ZNF2_ENST00000398107.2_Missense_Mutation_p.E164K|ZNF2_ENST00000425369.1_Missense_Mutation_p.E126K|ZNF2_ENST00000295210.6_Missense_Mutation_p.E168K|ZNF2_ENST00000453539.2_Missense_Mutation_p.E219K	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGACTGCCGCGAGTGTGGGAA	0.567																																																	0													56.0	65.0	62.0					2																	95847189		2199	4298	6497	SO:0001583	missense	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.616G>A	2.37:g.95847189G>A	ENSP00000345392:p.Glu206Lys		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E206K	ENST00000340539.5	37	c.616	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169074	0.57584	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000119	T	0.18800	0.0451	L	0.31371	0.925	0.30291	N	0.790339	D;D;D	0.89917	1.0;0.961;0.993	D;P;P	0.71870	0.975;0.571;0.564	T	0.00507	-1.1699	10	0.56958	D	0.05	-32.3835	16.6795	0.85288	0.0:0.0:1.0:0.0	.	168;164;205	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	K	164;206;126;168;219	ENSP00000381178:E164K;ENSP00000345392:E206K;ENSP00000406017:E126K;ENSP00000295210:E168K;ENSP00000411051:E219K	ENSP00000295210:E168K	E	+	1	0	ZNF2	95210916	0.334000	0.24739	0.953000	0.39169	0.232000	0.25224	1.176000	0.31957	2.813000	0.96785	0.655000	0.94253	GAG	ZNF2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.567	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	G	NM_021088		95847189	+1	no_errors	ENST00000340539	ensembl	human	known	70_37	missense	SNP	0.733	A
