#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
IL1RAP	3556	genome.wustl.edu	37	3	190321985	190321985	+	Missense_Mutation	SNP	A	A	G			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr3:190321985A>G	ENST00000412504.2	+	3	385	c.133A>G	c.(133-135)Atc>Gtc	p.I45V	IL1RAP_ENST00000072516.3_Missense_Mutation_p.I45V|IL1RAP_ENST00000422485.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.I45V|IL1RAP_ENST00000422940.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.I45V|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000443369.2_Missense_Mutation_p.I45V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	45	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCAGCTCGCATCAAGTGCCC	0.483																																																	0													109.0	99.0	102.0					3																	190321985		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.133A>G	3.37:g.190321985A>G	ENSP00000412053:p.Ile45Val		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I45V	ENST00000412504.2	37	c.133	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357439	0.24598	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.61	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.066644	0.64402	D	0.000007	T	0.74481	0.3722	N	0.25286	0.73	0.43588	D	0.995939	B;B;P	0.52316	0.12;0.006;0.952	B;B;P	0.59115	0.035;0.017;0.852	T	0.68614	-0.5362	10	0.15499	T	0.54	.	11.1778	0.48610	0.9277:0.0:0.0723:0.0	.	45;45;45	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	V	45	ENSP00000072516:I45V;ENSP00000408893:I45V;ENSP00000412053:I45V;ENSP00000401132:I45V;ENSP00000390541:I45V;ENSP00000389149:I45V;ENSP00000409352:I45V;ENSP00000387371:I45V;ENSP00000314807:I45V;ENSP00000412008:I45V	ENSP00000072516:I45V	I	+	1	0	IL1RAP	191804679	0.984000	0.35163	1.000000	0.80357	0.978000	0.69477	1.645000	0.37238	1.065000	0.40693	-0.274000	0.10170	ATC	IL1RAP	-	smart_Ig_sub,prints_IL1_rcpt_I/II		0.483	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	A			190321985	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	0.998	G
OR4D5	219875	genome.wustl.edu	37	11	123811257	123811257	+	Missense_Mutation	SNP	C	C	G			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr11:123811257C>G	ENST00000307033.2	+	1	1008	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TATTGGTCCCCTGGAGCACAG	0.498																																																	0													59.0	61.0	60.0					11																	123811257		2202	4299	6501	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.934C>G	11.37:g.123811257C>G	ENSP00000305970:p.Leu312Val		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L312V	ENST00000307033.2	37	c.934	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	C	3.816	-0.038688	0.07497	.	.	ENSG00000171014	ENST00000307033	T	0.00296	8.24	4.36	0.0165	0.14108	.	3.470970	0.01374	U	0.012663	T	0.00144	0.0004	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38265	-0.9669	10	0.15952	T	0.53	4.887	3.746	0.08548	0.1694:0.5285:0.0:0.3021	.	312	Q8NGN0	OR4D5_HUMAN	V	312	ENSP00000305970:L312V	ENSP00000305970:L312V	L	+	1	2	OR4D5	123316467	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.106000	0.15354	0.109000	0.17891	0.655000	0.94253	CTG	OR4D5	-	NULL		0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	C	NM_001001965		123811257	+1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.000	G
OR4D5	219875	genome.wustl.edu	37	11	123811269	123811269	+	Missense_Mutation	SNP	C	C	A			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr11:123811269C>A	ENST00000307033.2	+	1	1020	c.946C>A	c.(946-948)Ccc>Acc	p.P316T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGCACAGACCCTTACATTA	0.483																																																	0													54.0	55.0	55.0					11																	123811269		2201	4299	6500	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.946C>A	11.37:g.123811269C>A	ENSP00000305970:p.Pro316Thr		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P316T	ENST00000307033.2	37	c.946	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845274	0.32606	.	.	ENSG00000171014	ENST00000307033	T	0.00293	8.26	3.45	-0.00343	0.14025	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	9	0.02654	T	1	.	2.1759	0.03862	0.1845:0.3339:0.3624:0.1192	.	316	Q8NGN0	OR4D5_HUMAN	T	316	ENSP00000305970:P316T	ENSP00000305970:P316T	P	+	1	0	OR4D5	123316479	0.000000	0.05858	0.017000	0.16124	0.051000	0.14879	-0.037000	0.12164	0.231000	0.21079	0.655000	0.94253	CCC	OR4D5	-	NULL		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	C	NM_001001965		123811269	+1	no_errors	ENST00000307033	ensembl	human	known	70_37	missense	SNP	0.001	A
PRDM2	7799	genome.wustl.edu	37	1	14107417	14107417	+	Missense_Mutation	SNP	G	G	T			TCGA-HM-A6W2-01A-21D-A33O-09	TCGA-HM-A6W2-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	77da5f5d-4036-48c1-8992-651b8c0ed331	cd89b294-bf23-495d-a809-4ba324acc1ec	g.chr1:14107417G>T	ENST00000235372.7	+	8	3983	c.3127G>T	c.(3127-3129)Gcc>Tcc	p.A1043S	PRDM2_ENST00000343137.4_Missense_Mutation_p.A842S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A1043S|PRDM2_ENST00000413440.1_Missense_Mutation_p.A842S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1043	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTGATGTCTGCCGCCTCACC	0.562																																																	0													75.0	65.0	68.0					1																	14107417		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3127G>T	1.37:g.14107417G>T	ENSP00000235372:p.Ala1043Ser		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.A1043S	ENST00000235372.7	37	c.3127	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211355	0.09757	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01548	4.9;4.78;4.79;4.79	5.97	5.97	0.96955	.	0.451157	0.24937	N	0.034419	T	0.03390	0.0098	L	0.39898	1.24	0.42899	D	0.994223	P;P;P	0.37370	0.457;0.457;0.592	B;B;B	0.42771	0.223;0.223;0.397	T	0.65504	-0.6152	10	0.21540	T	0.41	.	17.9218	0.88969	0.0:0.0:1.0:0.0	.	901;1043;1043	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1043;1043;1043;842;842	ENSP00000235372:A1043S;ENSP00000312352:A1043S;ENSP00000411103:A842S;ENSP00000341621:A842S	ENSP00000235372:A1043S	A	+	1	0	PRDM2	13980004	1.000000	0.71417	0.997000	0.53966	0.127000	0.20565	5.336000	0.65935	2.837000	0.97791	0.655000	0.94253	GCC	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.562	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14107417	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	1.000	T
