#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
OR2B2	81697	broad.mit.edu	37	6	27879286	27879286	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr6:27879286C>T	ENST00000303324.2	-	1	888	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACCATCTTTCCCCGGTCTTT	0.443																																						uc011dkw.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(811-813)gGa>gAa		Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.							83.0	79.0	80.0					6																	27879286		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879286C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.812G>A	6.37:g.27879286C>T	ENSP00000304419:p.Gly271Glu						p.G271E	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			0	889	-			271					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.812G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505405	0.26949	.	.	ENSG00000168131	ENST00000303324	T	0.00058	8.79	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001569	T	0.00144	0.0004	L	0.46885	1.475	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.19095	-1.0316	10	0.87932	D	0	.	9.0305	0.36256	0.0:0.8951:0.0:0.1049	.	271	Q9GZK3	OR2B2_HUMAN	E	271	ENSP00000304419:G271E	ENSP00000304419:G271E	G	-	2	0	OR2B2	27987265	0.000000	0.05858	0.990000	0.47175	0.255000	0.26057	-0.005000	0.12855	2.371000	0.80710	0.563000	0.77884	GGA		0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	84	0	0	0	1	0	5	84				
FXR2	9513	broad.mit.edu	37	17	7495766	7495766	+	Intron	SNP	G	G	A			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr17:7495766G>A	ENST00000250113.7	-	15	2160				SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Silent_p.V179V|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACAGGGGTGAGCATCCCAT	0.532																																						uc010vuc.1																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(535-537)gtG>gtA		Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA.																																				SO:0001627	intron_variant	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7495766G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1825+55C>T	17.37:g.7495766G>A						SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank|FXR2_uc002gia.2_Intron	p.V179V			O75352	MPU1_HUMAN			5	753	+			0			PQ-loop 2.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.537G>A	CCDS45604.1																																																																																				0.532	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			15	108	0	0	0	1	0	15	108				
CCDC144CP	348254	broad.mit.edu	37	17	18483593	18483593	+	IGR	SNP	C	C	T	rs548099183	byFrequency	TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr17:18483593C>T								CTD-2303H24.2 (38359 upstream) : CCDC144B (7999 downstream)																							CAGTCTACAACGGTATGATTC	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22838	0.001		0.0	False		,,,				2504	0.0					uc002gua.4																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36								Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.																																				SO:0001628	intergenic_variant	284047							g.chr17:18483593C>T																													17.37:g.18483593C>T														11		-									RNA	SNP		37	c.2918G>A																																																																																				0	0.413									5	40	0	0	0	1	0	5	40				
ERMP1	79956	broad.mit.edu	37	9	5812998	5812998	+	Silent	SNP	T	T	C			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:5812998T>C	ENST00000339450.5	-	5	1001	c.912A>G	c.(910-912)tcA>tcG	p.S304S	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S80S|ERMP1_ENST00000543230.1_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	304						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTAGCTGCTGAAACATAAG	0.388																																						uc003zjm.1																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(910-912)tcA>tcG		Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.							108.0	99.0	102.0					9																	5812998		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812998T>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.912A>G	9.37:g.5812998T>C						ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Silent_p.S304S	p.S304S	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	4	966	-		Acute lymphoblastic leukemia(23;0.158)	304					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.912A>G	CCDS34983.1																																																																																				0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		37	51	0	0	0	1	0	37	51				
OR1N1	138883	broad.mit.edu	37	9	125288964	125288964	+	Silent	SNP	G	G	A			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:125288964G>A	ENST00000304880.2	-	1	608	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGATGAGTACGGTGCCTCCCA	0.507																																						uc004bmn.1																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)acC>acT		Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.							85.0	76.0	79.0					9																	125288964		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288964G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.609C>T	9.37:g.125288964G>A							p.T203T	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			0	609	-			203					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.609C>T	CCDS6844.1																																																																																				0.507	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			7	41	0	0	0	1	0	7	41				
RBM15B	29890	broad.mit.edu	37	3	51429678	51429678	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr3:51429678C>T	ENST00000323686.4	+	1	948	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	283					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cgtcacgccgccgcagccttc	0.746																																						uc003dbd.3																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(847-849)gCc>gTc		Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.							8.0	9.0	9.0					3																	51429678		2124	4175	6299	SO:0001583	missense	29890				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding	g.chr3:51429678C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.848C>T	3.37:g.51429678C>T	ENSP00000313890:p.Ala283Val						p.A283V	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	0	980	+			283					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.848C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656182	0.47467	.	.	ENSG00000179837	ENST00000323686	T	0.16073	2.37	4.65	4.65	0.58169	.	.	.	.	.	T	0.14184	0.0343	N	0.20986	0.625	0.40999	D	0.984917	B	0.18461	0.028	B	0.13407	0.009	T	0.07083	-1.0791	9	0.36615	T	0.2	.	17.9111	0.88934	0.0:1.0:0.0:0.0	.	283	Q8NDT2	RB15B_HUMAN	V	283	ENSP00000313890:A283V	ENSP00000313890:A283V	A	+	2	0	RBM15B	51404718	0.841000	0.29509	0.782000	0.31804	0.672000	0.39443	3.404000	0.52623	2.302000	0.77476	0.561000	0.74099	GCC		0.746	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	12	0	0	0	1	0	4	12				
SLC25A45	283130	broad.mit.edu	37	11	65144052	65144052	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:65144052C>T	ENST00000527174.1	-	6	748	c.693G>A	c.(691-693)atG>atA	p.M231I	SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I|SLC25A45_ENST00000417511.2_Missense_Mutation_p.M189I			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCAGTCCATCCATCTGCATCC	0.617																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(691-693)atG>atA		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							98.0	103.0	102.0					11																	65144052		2163	4260	6423	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144052C>T	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.693G>A	11.37:g.65144052C>T	ENSP00000435489:p.Met231Ile					SLC25A45_uc009yqi.1_Missense_Mutation_p.M169I|SLC25A45_uc001odq.1_Missense_Mutation_p.M207I|SLC25A45_uc001ods.1_Missense_Mutation_p.M189I|SLC25A45_uc001odt.1_Missense_Mutation_p.M189I	p.M231I	NM_182556	NP_001070709	Q8N413	S2545_HUMAN			6	897	-			231					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.693G>A	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191043	0.78902	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.58	4.58	0.56647	Mitochondrial carrier domain (2);	.	.	.	.	T	0.78400	0.4277	N	0.16478	0.41	0.45690	D	0.998603	D;P;P	0.69078	0.997;0.767;0.885	D;P;P	0.79108	0.992;0.561;0.688	T	0.77101	-0.2712	9	0.31617	T	0.26	5.0032	15.256	0.73585	0.0:1.0:0.0:0.0	.	169;207;231	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	I	231;207;231;207;127;189;189;169	ENSP00000435489:M231I;ENSP00000431769:M207I;ENSP00000381782:M231I;ENSP00000353879:M207I;ENSP00000366357:M127I;ENSP00000294187:M189I;ENSP00000407530:M189I;ENSP00000435547:M169I	ENSP00000294187:M189I	M	-	3	0	SLC25A45	64900628	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.347000	0.52200	2.550000	0.86006	0.561000	0.74099	ATG		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		33	67	0	0	0	1	0	33	67				
