#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SBF1	6305	broad.mit.edu	37	22	50898528	50898528	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr22:50898528C>T	ENST00000390679.3	-	26	3528	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H|SBF1_ENST00000380817.3_Missense_Mutation_p.R1115H			O95248	MTMR5_HUMAN	SET binding factor 1	1115					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGTCATGCGGTCGGAGGG	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3343-3345)cGc>cAc		SET binding factor 1							41.0	50.0	47.0					22																	50898528		2201	4299	6500	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898528C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3344G>A	22.37:g.50898528C>T	ENSP00000375097:p.Arg1115His					SBF1_ENST00000390679.3_Missense_Mutation_p.R1115H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H	p.R1115H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3527	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1115					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3344G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.171091	0.78452	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.10288	2.89;2.89;2.89	4.28	4.28	0.50868	.	0.075299	0.48767	D	0.000173	T	0.15176	0.0366	L	0.34521	1.04	0.42982	D	0.994465	D;D	0.76494	0.989;0.999	P;P	0.62014	0.715;0.897	T	0.03060	-1.1077	10	0.35671	T	0.21	.	5.5037	0.16842	0.0:0.744:0.0:0.256	.	1115;1115	O95248;O95248-4	MTMR5_HUMAN;.	H	1115;1116;1125;1115	ENSP00000370196:R1115H;ENSP00000252027:R1116H;ENSP00000375097:R1115H	ENSP00000336522:R1125H	R	-	2	0	SBF1	49245394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.595000	0.46197	2.196000	0.70406	0.561000	0.74099	CGC		0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	43	0	0	0	1	0	4	43				
OBP2A	29991	broad.mit.edu	37	9	138440527	138440527	+	Intron	SNP	T	T	C	rs2590501	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr9:138440527T>C	ENST00000539850.1	+	5	414				OBP2A_ENST00000340780.3_Missense_Mutation_p.W143R|OBP2A_ENST00000342114.4_Missense_Mutation_p.L98S|OBP2A_ENST00000371776.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GTCCCCACCTTGGCTCACCTG	0.597													.|||	2437	0.486621	0.2579	0.5778	5008	,	,		15516	0.6974		0.4274	False		,,,				2504	0.5746					ENST00000340780.3																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(427-429)Tgg>Cgg		odorant binding protein 2A		T		922,3484		159,604,1440	53.0	46.0	49.0			-2.5	0.0	9	dbSNP_100	49	3053,5547		799,1455,2046	no	intron	OBP2A	NM_014582.2		958,2059,3486	CC,CT,TT		35.5,20.926,30.5628			138440527	3975,9031	2203	4300	6503	SO:0001627	intron_variant	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138440527T>C	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.389-27T>C	9.37:g.138440527T>C						OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Missense_Mutation_p.L98S	p.W143R			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	5	469	+			0					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.427T>C	CCDS6992.1	967|967	0.44276556776556775|0.44276556776556775	123|123	0.25|0.25	181|181	0.5|0.5	378|378	0.6608391608391608|0.6608391608391608	285|285	0.3759894459102902|0.3759894459102902	t|t	0|0	-2.751831|-2.751831	0.00085|0.00085	0.20926|0.20926	0.355|0.355	ENSG00000122136|ENSG00000122136	ENST00000342114|ENST00000340780	T|T	0.25579|0.33438	1.79|1.41	1.27|1.27	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41324|0.41324	-0.9515|-0.9515	7|7	0.39692|0.41790	T|T	0.17|0.15	.|.	0.5218|0.5218	0.00613|0.00613	0.2448:0.3283:0.242:0.1849|0.2448:0.3283:0.242:0.1849	rs2590501;rs3827834|rs2590501;rs3827834	98|143	Q5T8A4|Q5T8A5	.|.	S|R	98|143	ENSP00000340950:L98S|ENSP00000342097:W143R	ENSP00000340950:L98S|ENSP00000342097:W143R	L|W	+|+	2|1	0|0	OBP2A|OBP2A	137580348|137580348	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.340000|0.340000	0.28889|0.28889	-2.631000|-2.631000	0.00871|0.00871	-0.799000|-0.799000	0.04439|0.04439	-3.752000|-3.752000	0.00022|0.00022	TTG|TGG		0.597	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		4	40	0	0	0	1	0	4	40				
TGM3	7053	broad.mit.edu	37	20	2290333	2290333	+	Missense_Mutation	SNP	C	C	A	rs214803	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr20:2290333C>A	ENST00000381458.5	+	2	101	c.38C>A	c.(37-39)aCg>aAg	p.T13K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	13			T -> K (in dbSNP:rs214803). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8099584, ECO:0000269|Ref.3, ECO:0000269|Ref.5, ECO:0000269|Ref.7}.		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.T13M(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACTGGCAGACGGCCTTCAAC	0.522													C|||	3719	0.742612	0.41	0.8329	5008	,	,		21352	0.9246		0.838	False		,,,				2504	0.8425					ENST00000381458.5																			1	Substitution - Missense(1)	p.T13M(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(37-39)aCg>aAg		transglutaminase 3	L-Glutamine(DB00130)	C	LYS/THR	2137,2269	580.0+/-385.0	504,1129,570	126.0	112.0	117.0		38	-1.1	0.0	20	dbSNP_79	117	7058,1542	746.8+/-407.3	2900,1258,142	yes	missense	TGM3	NM_003245.3	78	3404,2387,712	AA,AC,CC		17.9302,48.502,29.3019	benign	13/694	2290333	9195,3811	2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290333C>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.38C>A	20.37:g.2290333C>A	ENSP00000370867:p.Thr13Lys						p.T13K	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			2	101	+			13		T -> K (in dbSNP:rs214803).			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.38C>A	CCDS33435.1	1675	0.766941391941392	211	0.42886178861788615	293	0.8093922651933702	539	0.9423076923076923	632	0.8337730870712401	C	9.284	1.048874	0.19827	0.48502	0.820698	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.84223	-1.82	5.53	-1.08	0.09936	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.443610	0.03527	N	0.221885	T	0.00012	0.0000	N	0.04880	-0.145	0.80722	P	0.0	P	0.40681	0.727	B	0.24269	0.052	T	0.48375	-0.9041	9	0.28530	T	0.3	-12.1737	2.9077	0.05726	0.3045:0.2675:0.0:0.428	rs214803;rs3844903;rs52815802;rs60904394;rs214803	13	Q08188	TGM3_HUMAN	K	13	ENSP00000370867:T13K	ENSP00000370867:T13K	T	+	2	0	TGM3	2238333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.742000	0.01835	-0.157000	0.11059	-0.367000	0.07326	ACG		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		7	152	1	0	0.00198382	1	0.00205729	7	152				
SDHAP1	255812	broad.mit.edu	37	3	195690192	195690192	+	RNA	SNP	C	C	T	rs112207499	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr3:195690192C>T	ENST00000427841.1	-	0	2303					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTGTCATCACCGCATCTTGTC	0.438													c|||	821	0.163938	0.2284	0.1657	5008	,	,		21866	0.1329		0.1312	False		,,,				2504	0.1411				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690192C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690192C>T								NR_003264.2						0	2303	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.438	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	15	0	0	0	1	0	5	15				
WBP11P1	441818	broad.mit.edu	37	18	30092418	30092418	+	RNA	SNP	C	C	A	rs76638541	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr18:30092418C>A	ENST00000567636.1	+	0	793					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TTGGCCCTCCCCCTGGTCCAC	0.552													C|||	5	0.000998403	0.0	0.0	5008	,	,		19727	0.0		0.005	False		,,,				2504	0.0					ENST00000567636.1																			0																																																			0							g.chr18:30092418C>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092418C>A								NR_003558.1						0	793	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.552	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			5	84	1	0	3.59834e-05	1	3.87513e-05	5	84				
FUNDC2P2	388965	broad.mit.edu	37	2	84518438	84518438	+	RNA	SNP	T	T	C	rs1968722	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr2:84518438T>C	ENST00000331369.5	+	0	632									FUN14 domain containing 2 pseudogene 2																		TTTTTTCCAGTCAGCAGCCTC	0.478													C|||	3183	0.635583	0.2617	0.6931	5008	,	,		20551	0.878		0.7863	False		,,,				2504	0.6953					ENST00000331369.5																			0																																																			0							g.chr2:84518438T>C			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518438T>C														0	632	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.478	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		4	60	0	0	0	1	0	4	60				
OBP2A	29991	broad.mit.edu	37	9	138440525	138440525	+	Intron	SNP	C	C	G	rs2590500	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr9:138440525C>G	ENST00000539850.1	+	5	414				OBP2A_ENST00000340780.3_Missense_Mutation_p.P142R|OBP2A_ENST00000342114.4_Silent_p.T97T|OBP2A_ENST00000371776.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGTCCCCACCTTGGCTCACC	0.597													.|||	2437	0.486621	0.2579	0.5778	5008	,	,		15450	0.6974		0.4274	False		,,,				2504	0.5746					ENST00000340780.3																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(424-426)cCt>cGt		odorant binding protein 2A		C		931,3475		158,615,1430	54.0	46.0	49.0			0.8	0.0	9	dbSNP_100	49	3075,5523		801,1473,2025	no	intron	OBP2A	NM_014582.2		959,2088,3455	GG,GC,CC		35.7641,21.1303,30.8059			138440525	4006,8998	2203	4299	6502	SO:0001627	intron_variant	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138440525C>G	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.389-29C>G	9.37:g.138440525C>G						OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Silent_p.T97T	p.P142R			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	5	467	+			0					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.425C>G	CCDS6992.1	964	0.4413919413919414	120	0.24390243902439024	181	0.5	378	0.6608391608391608	285	0.3759894459102902	c	12.86	2.063603	0.36373	0.211303	0.357641	ENSG00000122136	ENST00000340780	T	0.28069	1.63	1.77	0.816	0.18768	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	D	0.64830	0.994	D	0.65684	0.937	T	0.39840	-0.9594	7	0.16420	T	0.52	.	5.4203	0.16396	0.3299:0.6701:0.0:0.0	rs2590500;rs3827833	142	Q5T8A5	.	R	142	ENSP00000342097:P142R	ENSP00000342097:P142R	P	+	2	0	OBP2A	137580346	0.000000	0.05858	0.002000	0.10522	0.364000	0.29643	0.186000	0.16978	0.295000	0.22570	0.425000	0.28330	CCT		0.597	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		4	38	0	0	0	1	0	4	38				
TRGV5	6978	broad.mit.edu	37	7	38389455	38389455	+	RNA	SNP	G	G	C	rs376956425	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr7:38389455G>C	ENST00000390344.2	-	0	168									T cell receptor gamma variable 5																		TGGAAGGAAAGGGACCAGATG	0.562													G|||	10	0.00199681	0.0038	0.0	5008	,	,		15926	0.0		0.001	False		,,,				2504	0.0041					ENST00000390344.2																			0																				50.0	49.0	49.0					7																	38389455		1892	4122	6014			0							g.chr7:38389455G>C	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389455G>C														0	168	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.562	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		4	35	0	0	0	1	0	4	35				
CCDC114	93233	broad.mit.edu	37	19	48807367	48807367	+	Silent	SNP	C	C	A	rs28582401	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43.0	43.0	43.0		585	-0.5	1.0	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	55	1	0	5.9392e-07	1	6.6519e-07	5	55				
EN1	2019	broad.mit.edu	37	2	119604526	119604528	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr2:119604526_119604528delTGC	ENST00000295206.6	-	1	726_728	c.216_218delGCA	c.(214-219)ccgcac>ccc	p.H73del	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	73					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						tggggggaggtgcgggtggtggg	0.773																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(214-219)ccc>cc		engrailed homeobox 1																																				SO:0001651	inframe_deletion	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604526_119604528delTGC	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.216_218delGCA	2.37:g.119604526_119604528delTGC	ENSP00000295206:p.His73del						p.PH72del	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	726_728	-			72					Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	c.216_218delGCA	CCDS2123.1																																																																																				0.773	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			2	4						2	4	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		3	3						3	3	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		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		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040|rs563910	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418																																						ENST00000412436.1																			0																																																			0							g.chrX:154578865delG																													X.37:g.154578865delG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			3	3						3	3	---	---	---	---
