#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
MUC4	4585	genome.wustl.edu	37	3	195506606	195506606	+	Missense_Mutation	SNP	C	C	G	rs374077908		TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr3:195506606C>G	ENST00000463781.3	-	2	12304	c.11845G>C	c.(11845-11847)Gac>Cac	p.D3949H	MUC4_ENST00000475231.1_Missense_Mutation_p.D3949H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3949H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTCACCTGTGGAT	0.587																																							0											1	Substitution - Missense(1)	kidney(1)											14.0	12.0	13.0					3																	195506606		627	1396	2023	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11845G>C	3.37:g.195506606C>G	ENSP00000417498:p.Asp3949His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D3949H	ENST00000463781.3	37	c.11845	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	0.124	-1.122003	0.01785	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.44;1.42	.	.	.	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.19575	N	0.999964	B	0.10296	0.003	B	0.01281	0.0	T	0.30909	-0.9962	7	.	.	.	.	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	3821	E7ESK3	.	H	3949	ENSP00000417498:D3949H;ENSP00000420243:D3949H	.	D	-	1	0	MUC4	196991385	0.007000	0.16637	0.016000	0.15963	0.013000	0.08279	-2.051000	0.01402	0.064000	0.16427	0.064000	0.15345	GAC	0	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	29	20	3.33	0.00	1	0	C	NM_018406	rs374077908	C->G		195506606	-1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	38	13	19.15	13.33	9	2	SNP	0.777	G
GFPT2	9945	genome.wustl.edu	37	5	179731776	179731776	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr5:179731776C>T	ENST00000253778.8	-	17	2007	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	613	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCTCACCTGGCGGGCCGTGAC	0.582																																							0											0													125.0	141.0	136.0					5																	179731776		2054	4194	6248	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1838G>A	5.37:g.179731776C>T	ENSP00000253778:p.Arg613His		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.R613H	ENST00000253778.8	37	c.1838	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456809	0.84317	.	.	ENSG00000131459	ENST00000253778	T	0.69040	-0.37	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	H	0.98833	4.345	0.80722	D	1	B	0.30361	0.277	B	0.33042	0.157	D	0.85438	0.1153	9	.	.	.	-27.1396	19.9421	0.97168	0.0:1.0:0.0:0.0	.	613	O94808	GFPT2_HUMAN	H	613	ENSP00000253778:R613H	.	R	-	2	0	GFPT2	179664382	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	CGC	0	pfam_SIS,tigrfam_GlmS_trans		0.582	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	protein_coding	OTTHUMT00000373444.4	28	132	0	0.00	0	0	C	NM_005110	0	0		179731776	-1	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	36	93	10	7.92	4	8	SNP	1	T
LRRC27	80313	genome.wustl.edu	37	10	134169314	134169314	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr10:134169314A>G	ENST00000368614.3	+	8	1199	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	LRRC27_ENST00000432555.2_Missense_Mutation_p.E238G|LRRC27_ENST00000368610.3_Missense_Mutation_p.E303G|LRRC27_ENST00000368612.1_Missense_Mutation_p.E303G|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.E365G	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	365										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCACTGCAGGAGTGGAGAGAG	0.567																																							0											0													86.0	72.0	77.0					10																	134169314		2171	4247	6418	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1094A>G	10.37:g.134169314A>G	ENSP00000357603:p.Glu365Gly		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E365G	ENST00000368614.3	37	c.1094	CCDS31316.1	10	.	.	.	.	.	.	.	.	.	.	A	8.173	0.792073	0.16258	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T	0.50548	2.3;2.3;4.09;4.09;0.74	3.71	2.54	0.30619	.	0.225650	0.26542	N	0.023795	T	0.39911	0.1096	L	0.48642	1.525	0.30567	N	0.763918	D;B;B	0.53312	0.959;0.008;0.005	P;B;B	0.45506	0.483;0.01;0.005	T	0.39860	-0.9593	10	0.33940	T	0.23	-11.5899	7.5177	0.27610	0.7806:0.2194:0.0:0.0	.	238;303;365	B4DW88;Q9C0I9-2;Q9C0I9	.;.;LRC27_HUMAN	G	365;365;303;303;238	ENSP00000357603:E365G;ENSP00000357602:E365G;ENSP00000357601:E303G;ENSP00000357599:E303G;ENSP00000407949:E238G	ENSP00000357599:E303G	E	+	2	0	LRRC27	134019304	0.883000	0.30277	0.971000	0.41717	0.010000	0.07245	0.486000	0.22340	0.555000	0.29079	-0.291000	0.09656	GAG	0	NULL		0.567	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	protein_coding	OTTHUMT00000051058.2	17	86	0	0.00	0	0	A	XM_290462	0	0		134169314	1	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	30	75	14.29	6.25	5	5	SNP	0.998	G
NOP9	161424	genome.wustl.edu	37	14	24769880	24769880	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr14:24769880A>G	ENST00000267425.3	+	2	607	c.514A>G	c.(514-516)Aag>Gag	p.K172E	NOP9_ENST00000396802.3_Missense_Mutation_p.K172E|DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	172							poly(A) RNA binding (GO:0044822)										ggaggaTGGAAAGGATGGTCC	0.562																																							0											0													149.0	127.0	134.0					14																	24769880		2203	4300	6503	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.514A>G	14.37:g.24769880A>G	ENSP00000267425:p.Lys172Glu		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.K172E	ENST00000267425.3	37	c.514	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	A	3.247	-0.154076	0.06585	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.28895	1.62;1.59	4.92	-1.46	0.08800	Armadillo-like helical (1);Armadillo-type fold (1);	0.974614	0.08433	N	0.946618	T	0.11879	0.0289	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33111	-0.9881	10	0.02654	T	1	-14.847	10.8715	0.46885	0.4395:0.0:0.5605:0.0	.	172	Q86U38	CN021_HUMAN	E	172	ENSP00000267425:K172E;ENSP00000380020:K172E	ENSP00000267425:K172E	K	+	1	0	C14orf21	23839720	0.007000	0.16637	0.002000	0.10522	0.894000	0.52154	0.038000	0.13862	-0.162000	0.10964	0.533000	0.62120	AAG	0	superfamily_ARM-type_fold		0.562	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	protein_coding	OTTHUMT00000073186.2	28	76	0	1.30	0	1	A		0	0		24769880	1	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	49	73	9.26	6.41	5	5	SNP	0.014	G
OR4F17	81099	genome.wustl.edu	37	19	111016	111016	+	Missense_Mutation	SNP	T	T	G	rs200336441		TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr19:111016T>G	ENST00000585993.1	+	2	477	c.338T>G	c.(337-339)tTt>tGt	p.F113C	OR4F17_ENST00000318050.3_Missense_Mutation_p.F113C			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATGGGCTTTGACAGATAT	0.463																																							0											0													1.0	1.0	1.0					19																	111016		76	150	226	SO:0001583	missense	0			AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.338T>G	19.37:g.111016T>G	ENSP00000467301:p.Phe113Cys		B2RNE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F113C	ENST00000585993.1	37	c.338	CCDS32854.1	19	.	.	.	.	.	.	.	.	.	.	.	9.777	1.174271	0.21704	.	.	ENSG00000176695	ENST00000442916;ENST00000318050	T	0.00520	6.85	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.156294	0.30193	N	0.010181	T	0.01189	0.0039	M	0.75884	2.315	0.31291	N	0.689393	D	0.76494	0.999	D	0.74674	0.984	T	0.24154	-1.0168	10	0.72032	D	0.01	.	4.9478	0.13999	0.2703:0.0:0.0:0.7297	.	113	Q8NGA8	O4F17_HUMAN	C	161;113	ENSP00000315047:F113C	ENSP00000315047:F113C	F	+	2	0	OR4F17	62016	0.698000	0.27777	1.000000	0.80357	0.325000	0.28411	0.344000	0.19962	1.410000	0.46936	0.346000	0.21813	TTT	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F17	protein_coding	OTTHUMT00000451410.1	11	1	0	0.00	0	0	T		rs200336441	T->G		111016	1	no_errors	ENST00000318050	ensembl	human	known	74_37	missense	10	0	47.37	100.00	9	4	SNP	0.999	G
LOC101927209	101927209	genome.wustl.edu	37	1	142690865	142690865	+	lincRNA	SNP	C	C	G	rs375934109		TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr1:142690865C>G	ENST00000610091.1	-	0	3560																											TCTTTCCAGCCACCCTCCAGG	0.562																																							0											0																																												0																															1.37:g.142690865C>G				RNA	SNP	0	NULL	ENST00000610091.1	37	NULL		1																																																																																			0	0		0.562	RP11-417J8.6-001	KNOWN	basic	lincRNA	LOC101927209	lincRNA	OTTHUMT00000037265.2	9	0	0	0.00	0	0	C		rs375934109	C->A,G		142690865	1	no_errors	ENST00000446205	ensembl	human	known	74_37	rna	13	0	43.48	0.00	10	0	SNP	0.037	G
MUC20	200958	genome.wustl.edu	37	3	195452575	195452575	+	Silent	SNP	C	C	T	rs371281295		TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr3:195452575C>T	ENST00000447234.2	+	2	1227	c.1101C>T	c.(1099-1101)agC>agT	p.S367S	MUC20_ENST00000436408.1_Silent_p.S367S|MUC20_ENST00000445522.2_Silent_p.S332S|MUC20_ENST00000320736.6_Silent_p.S196S	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	367	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGAGAGCAGCGCCTCTTCCG	0.672																																							0											0																																										SO:0001819	synonymous_variant	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1101C>T	3.37:g.195452575C>T			Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	NULL	p.S367	ENST00000447234.2	37	c.1101		3																																																																																			0	NULL		0.672	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	protein_coding	OTTHUMT00000341835.1	52	0	1.89	0.00	1	0	C	NM_152673	rs371281295	C->T		195452575	1	no_errors	ENST00000447234	ensembl	human	known	74_37	silent	38	0	17.39	0.00	8	0	SNP	0.019	T
DNM1P47	100216544	genome.wustl.edu	37	15	102304383	102304383	+	RNA	SNP	C	C	A			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr15:102304383C>A	ENST00000561463.1	+	0	12429									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.582																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304383C>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.582	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	41	8	2.38	0.00	1	0	C	NG_009149	0	0		102304383	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	24	8	17.24	0.00	5	0	SNP	0.995	A
TNFSF15	9966	genome.wustl.edu	37	9	117554505	117554514	+	Intron	DEL	ACACACACAC	ACACACACAC	-	rs112858578|rs142936750|rs370583345|rs113508621		TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	ACACACACAC	ACACACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr9:117554505_117554514delACACACACAC	ENST00000374045.4	-	3	415				AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_5'Flank	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						ataTGTGTGTacacacacacacacacacac	0.376																																							0											0																																										SO:0001627	intron_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.301+172GTGTGTGTGT>-	9.37:g.117554515_117554524delACACACACAC			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	RNA	DEL	0	NULL	ENST00000374045.4	37	NULL	CCDS6809.1	9																																																																																			0	0		0.376	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221734	protein_coding	OTTHUMT00000055424.2	12	0	0	0.00	0	0	ACACACACAC	NM_005118	rs142936750	TACACACACAC->T		117554514	1	no_errors	ENST00000408807	ensembl	human	novel	74_37	rna	13	0	23.53	0.00	4	0	DEL	0.007:0.007:0.010:0.012:0.014:0.015:0.016:0.016:0.016:0.014	0
