#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_CAF	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_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_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
XPO1	7514	genome.wustl.edu	37	2	61706054	61706054	+	Silent	SNP	T	T	C			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr2:61706054T>C	ENST00000401558.2	-	25	3844	c.3117A>G	c.(3115-3117)gaA>gaG	p.E1039E	XPO1_ENST00000404992.2_Silent_p.E1039E|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Silent_p.E1039E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1039					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GTAGGGCTATTTCTCTCTCTT	0.383			Mis		CLL																																		0	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													122.0	122.0	122.0					2																	61706054		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3117A>G	2.37:g.61706054T>C			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E1039	ENST00000401558.2	37	c.3117	CCDS33205.1	2																																																																																			0	superfamily_ARM-type_fold		0.383	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	protein_coding	OTTHUMT00000325872.3	46	269	0	0.00	0	0	T	NM_003400	0	0		61706054	-1	no_errors	ENST00000401558	ensembl	human	known	74_37	silent	23	222	58.93	38.84	33	141	SNP	1	C
GLI2	2736	genome.wustl.edu	37	2	121745912	121745912	+	Missense_Mutation	SNP	A	A	G			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr2:121745912A>G	ENST00000452319.1	+	14	2482	c.2422A>G	c.(2422-2424)Agc>Ggc	p.S808G	GLI2_ENST00000314490.11_Missense_Mutation_p.S480G|GLI2_ENST00000361492.4_Missense_Mutation_p.S808G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGCCGCGACAGCTCCACCAG	0.741																																							0											0													7.0	9.0	9.0					2																	121745912		2150	4223	6373	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2422A>G	2.37:g.121745912A>G	ENSP00000390436:p.Ser808Gly			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S808G	ENST00000452319.1	37	c.2422	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958395	0.92726	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.93366	-3.21;-3.21;-3.21	4.58	4.58	0.56647	.	0.084746	0.85682	D	0.000000	D	0.96941	0.9001	M	0.88704	2.975	0.53688	D	0.999973	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.994;0.997;1.0;0.994	D	0.97730	1.0202	10	0.87932	D	0	.	14.1388	0.65306	1.0:0.0:0.0:0.0	.	808;463;463;480	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	G	808;808;480	ENSP00000390436:S808G;ENSP00000354586:S808G;ENSP00000312694:S480G	ENSP00000312694:S480G	S	+	1	0	GLI2	121462382	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.835000	0.92100	1.918000	0.55548	0.459000	0.35465	AGC	0	NULL		0.741	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	16	14	0	0.00	0	0	A	NM_005270	0	0		121745912	1	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	7	9	56.25	30.77	9	4	SNP	1	G
TSSK1B	83942	genome.wustl.edu	37	5	112770143	112770143	+	Missense_Mutation	SNP	C	C	T	rs556130601		TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr5:112770143C>T	ENST00000390666.3	-	1	585	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CGGTGGACGACGTCCAGGTCG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													85.0	82.0	83.0					5																	112770143		2202	4300	6502	SO:0001583	missense	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.394G>A	5.37:g.112770143C>T	ENSP00000375081:p.Val132Ile		B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V132I	ENST00000390666.3	37	c.394	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160328	0.01686	.	.	ENSG00000212122	ENST00000390666	T	0.61392	0.11	1.24	0.193	0.15139	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268702	0.18780	N	0.131369	T	0.18383	0.0441	N	0.01482	-0.84	0.23876	N	0.996598	B	0.11235	0.004	B	0.16289	0.015	T	0.23084	-1.0198	10	0.02654	T	1	.	2.0638	0.03598	0.3075:0.4722:0.0:0.2202	.	132	Q9BXA7	TSSK1_HUMAN	I	132	ENSP00000375081:V132I	ENSP00000375081:V132I	V	-	1	0	TSSK1B	112798042	0.074000	0.21230	0.857000	0.33713	0.098000	0.18820	-0.284000	0.08422	-0.435000	0.07264	-0.823000	0.03104	GTC	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.557	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	protein_coding	OTTHUMT00000250774.2	38	80	0	0.00	0	0	C	NM_032028	rs556130601	C->T		112770143	-1	no_errors	ENST00000390666	ensembl	human	known	74_37	missense	31	93	40.38	44.64	21	75	SNP	0.982	T
PI16	221476	genome.wustl.edu	37	6	36930927	36930927	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr6:36930927C>T	ENST00000373674.3	+	5	1137	c.809C>T	c.(808-810)aCg>aTg	p.T270M	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	270					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTTAGCAACGAAAGACCCG	0.582																																							0											0													94.0	85.0	88.0					6																	36930927		2203	4300	6503	SO:0001583	missense	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.809C>T	6.37:g.36930927C>T	ENSP00000362778:p.Thr270Met		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T270M	ENST00000373674.3	37	c.809	CCDS34440.1	6	.	.	.	.	.	.	.	.	.	.	C	6.961	0.547294	0.13312	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.09073	3.02	5.27	3.49	0.39957	.	0.305751	0.27673	N	0.018340	T	0.03220	0.0094	L	0.57536	1.79	0.80722	D	1	P	0.47677	0.899	B	0.32090	0.14	T	0.38457	-0.9660	10	0.87932	D	0	.	9.9511	0.41638	0.0:0.8336:0.0:0.1664	.	270	Q6UXB8	PI16_HUMAN	M	270;122	ENSP00000362778:T270M	ENSP00000362778:T270M	T	+	2	0	PI16	37038905	0.115000	0.22152	0.134000	0.22075	0.060000	0.15804	0.811000	0.27198	0.799000	0.34018	-0.140000	0.14226	ACG	0	NULL		0.582	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	protein_coding	OTTHUMT00000040380.1	43	208	0	0.00	0	0	C	NM_153370	0	0		36930927	1	no_errors	ENST00000373674	ensembl	human	known	74_37	missense	6	35	79.31	74.26	23	101	SNP	0.836	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97937592	97937592	+	Intron	SNP	G	G	A			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr7:97937592G>A	ENST00000005260.8	-	10	1171				RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAGGCTAGGGCCACAGTTC	0.527																																							0											0																																										SO:0001627	intron_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.956-384C>T	7.37:g.97937592G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	RNA	SNP	0	NULL	ENST00000005260.8	37	NULL	CCDS34687.1	7																																																																																			0	0		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272782	protein_coding	OTTHUMT00000334681.1	27	257	0	0.00	0	0	G	NM_018842	0	0		97937592	1	no_errors	ENST00000609873	ensembl	human	known	74_37	rna	33	233	10.81	9.34	4	24	SNP	0.005	A
KCNV2	169522	genome.wustl.edu	37	9	2717989	2717989	+	Missense_Mutation	SNP	G	G	A	rs375827258		TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr9:2717989G>A	ENST00000382082.3	+	1	488	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	84					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGTCACCACCGCCAAGCCCGA	0.642																																							0											0													88.0	62.0	71.0					9																	2717989		2203	4300	6503	SO:0001583	missense	0			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.250G>A	9.37:g.2717989G>A	ENSP00000371514:p.Ala84Thr		Q5T6X0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.A84T	ENST00000382082.3	37	c.250	CCDS6447.1	9	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209032	0.09757	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96802	-4.13	5.18	-1.44	0.08856	.	3.158730	0.01155	N	0.006508	D	0.89185	0.6643	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.80747	-0.1244	10	0.40728	T	0.16	.	2.0054	0.03476	0.2594:0.2173:0.4118:0.1115	.	84	Q8TDN2	KCNV2_HUMAN	T	84	ENSP00000371514:A84T	ENSP00000371514:A84T	A	+	1	0	KCNV2	2707989	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.859000	0.04277	-0.643000	0.05473	0.467000	0.42956	GCC	0	NULL		0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	protein_coding	OTTHUMT00000051528.1	29	90	0	0.00	0	0	G	NM_133497	0	0		2717989	1	no_errors	ENST00000382082	ensembl	human	known	74_37	missense	14	42	54.84	42.47	17	31	SNP	0	A
NR2F2	7026	genome.wustl.edu	37	15	96875650	96875650	+	Missense_Mutation	SNP	A	A	C			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr15:96875650A>C	ENST00000394166.3	+	1	1705	c.316A>C	c.(316-318)Agc>Cgc	p.S106R	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	106					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTTCAAGCGCAGCGTGCGGAG	0.612																																							0											0													73.0	60.0	64.0					15																	96875650		2197	4298	6495	SO:0001583	missense	0			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.316A>C	15.37:g.96875650A>C	ENSP00000377721:p.Ser106Arg		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S106R	ENST00000394166.3	37	c.316	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961724	0.74016	.	.	ENSG00000185551	ENST00000394166	D	0.97924	-4.61	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.317042	0.31312	N	0.007865	D	0.97885	0.9305	M	0.93898	3.47	0.80722	D	1	B	0.31625	0.332	B	0.35813	0.211	D	0.98676	1.0690	10	0.87932	D	0	.	12.8472	0.57837	1.0:0.0:0.0:0.0	.	106	P24468	COT2_HUMAN	R	106	ENSP00000377721:S106R	ENSP00000377721:S106R	S	+	1	0	NR2F2	94676654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.279000	0.95777	1.705000	0.51264	0.379000	0.24179	AGC	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	protein_coding	OTTHUMT00000313534.1	29	83	0	0.00	0	0	A		0	0		96875650	1	no_errors	ENST00000394166	ensembl	human	known	74_37	missense	19	64	38.71	34.02	12	33	SNP	1	C
RLIM	51132	genome.wustl.edu	37	X	73815642	73815647	+	Splice_Site	DEL	ACCTGG	ACCTGG	-			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	ACCTGG	ACCTGG	ACCTGG	-	ACCTGG	ACCTGG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chrX:73815642_73815647delACCTGG	ENST00000332687.6	-	2	384_388	c.166_170delCCAGGT	c.(166-171)ccaggt>t	p.PG56del	RLIM_ENST00000349225.2_Splice_Site_p.PG56del	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	56					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTAAGCATACCTGGGGTGCCTAGC	0.33																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)		0											0																																										SO:0001630	splice_region_variant	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.169+1CCAGGT>-	X.37:g.73815642_73815647delACCTGG			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Splice_Site	DEL	0	e2-1	ENST00000332687.6	37	c.169+5_169+1	CCDS14427.1	X																																																																																			0	0		0.330	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	157	313	0	0.00	0	0	ACCTGG	NM_016120	0	0	In_Frame_Del	73815647	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	splice_site_del	78	199	12.36	11.16	11	25	DEL	1.000:1.000:1.000:1.000:1.000:1.000	0
ANKRD17	26057	genome.wustl.edu	37	4	74124012	74124017	+	In_Frame_Del	DEL	TCGTCG	TCGTCG	-			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	TCGTCG	TCGTCG	TCGTCG	-	TCGTCG	TCGTCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr4:74124012_74124017delTCGTCG	ENST00000358602.4	-	1	485_490	c.369_374delCGACGA	c.(367-375)gacgacgag>gag	p.DD123del	ANKRD17_ENST00000330838.6_In_Frame_Del_p.DD123del|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	123					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCCTCTTCCTCGTCGTCGTCGTCCT	0.641																																							0											0																																										SO:0001651	inframe_deletion	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.369_374delCGACGA	4.37:g.74124018_74124023delTCGTCG	ENSP00000351416:p.Asp123_Asp124del		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Del	DEL	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.DD123in_frame_del	ENST00000358602.4	37	c.374_369	CCDS34004.1	4																																																																																			0	NULL		0.641	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	59	139	0	0.00	0	0	TCGTCG	NM_032217	0	0		74124017	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	in_frame_del	27	111	40	22.38	18	32	DEL	1.000:1.000:1.000:1.000:1.000:1.000	0
POU3F2	5454	genome.wustl.edu	37	6	99283173	99283175	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr6:99283173_99283175delCAG	ENST00000328345.5	+	1	594_596	c.424_426delCAG	c.(424-426)cagdel	p.Q149del		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	149	Poly-Gln.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		acagcagcaacagcagcagcagc	0.714																																							0											0																																										SO:0001651	inframe_deletion	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.424_426delCAG	6.37:g.99283182_99283184delCAG	ENSP00000329170:p.Gln149del		Q14960|Q86V54|Q9UJL0	In_Frame_Del	DEL	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q145in_frame_del	ENST00000328345.5	37	c.424_426	CCDS5040.1	6																																																																																			0	pirsf_Transcription_factor_POU		0.714	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	protein_coding	OTTHUMT00000041586.2	21	7	0	0.00	0	0	CAG		0	0		99283175	1	no_errors	ENST00000328345	ensembl	human	known	74_37	in_frame_del	12	2	20	0.00	3	0	DEL	1.000:1.000:1.000	0
