#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
OR4N5	390437	broad.mit.edu	37	14	20612596	20612596	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:20612596C>A	ENST00000333629.1	+	1	702	c.702C>A	c.(700-702)agC>agA	p.S234R	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	234			S -> T (in dbSNP:rs10140908).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGAAAGAGCAAGGCTATTT	0.502																																						uc010tla.2																			0		p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(700-702)agC>agA		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							152.0	152.0	152.0					14																	20612596		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612596C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.702C>A	14.37:g.20612596C>A	ENSP00000332110:p.Ser234Arg						p.S234R	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	702	+	all_cancers(95;0.00108)		234		S -> T (in dbSNP:rs10140908).			Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.702C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.159617	0.00321	.	.	ENSG00000184394	ENST00000333629	T	0.00099	8.73	3.88	-0.575	0.11734	GPCR, rhodopsin-like superfamily (1);	0.997836	0.08112	N	0.996023	T	0.00073	0.0002	N	0.03304	-0.355	0.20563	N	0.999885	B	0.20368	0.044	B	0.29353	0.101	T	0.32134	-0.9918	10	0.02654	T	1	.	0.558	0.00674	0.1767:0.3307:0.1725:0.32	.	234	Q8IXE1	OR4N5_HUMAN	R	234	ENSP00000332110:S234R	ENSP00000332110:S234R	S	+	3	2	OR4N5	19682436	0.000000	0.05858	0.406000	0.26421	0.530000	0.34684	-2.319000	0.01120	0.070000	0.16634	0.655000	0.94253	AGC		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			60	164	0	0	0	1	0	60	164				
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.							262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg						p.K265R	NM_006292	NP_006283	Q99816	TS101_HUMAN			7	934	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		6	392	0	0	0	1	0	6	392				
MACF1	23499	broad.mit.edu	37	1	39847746	39847746	+	Silent	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:39847746G>A	ENST00000372915.3	+	55	13872	c.13785G>A	c.(13783-13785)gaG>gaA	p.E4595E	MACF1_ENST00000545844.1_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000564288.1_Silent_p.E4590E|MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000567887.1_Silent_p.E4627E|MACF1_ENST00000289893.4_Silent_p.E3030E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4595					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGATGGAGAAAGAACTGA	0.532																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(9088-9090)gaG>gaA		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							56.0	59.0	58.0					1																	39847746		2203	4300	6503	SO:0001819	synonymous_variant	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39847746G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13785G>A	1.37:g.39847746G>A						MACF1_uc021ols.1_Silent_p.E2528E|MACF1_uc001cdc.2_Silent_p.E2507E|MACF1_uc021olt.1_Silent_p.E2528E|MACF1_uc001cda.1_Silent_p.E2415E	p.E3030E	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		19	9090	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4595					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.9090G>A		.	.	.	.	.	.	.	.	.	.	G	9.218	1.032666	0.19590	.	.	ENSG00000127603	ENST00000372925	T	0.41065	1.01	5.95	4.07	0.47477	.	0.000000	0.64402	D	0.000017	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40534	-0.9558	7	0.33141	T	0.24	.	13.1435	0.59448	0.1278:0.0:0.8722:0.0	.	.	.	.	K	1641	ENSP00000362016:E1641K	ENSP00000362016:E1641K	E	+	1	0	MACF1	39620333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.907000	0.63300	0.839000	0.34971	0.650000	0.86243	GAA		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	64	0	0	0	1	0	3	64				
ERC1	23085	broad.mit.edu	37	12	1225197	1225197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:1225197G>T	ENST00000397203.2	+	7	1973	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	523					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTGCAGACTGAGGTAGAAAC	0.428																																						uc001qjb.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1567-1569)Gag>Tag		Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.							92.0	92.0	92.0					12																	1225197		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1225197G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1567G>T	12.37:g.1225197G>T	ENSP00000380386:p.Glu523*					ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Nonsense_Mutation_p.E495*|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Nonsense_Mutation_p.E523*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E271*|ERC1_uc009zdp.3_Nonsense_Mutation_p.E163*	p.E523*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		6	1808	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		523					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1567G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	39	7.428208	0.98279	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.14	5.14	0.70334	.	0.102180	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.3138	19.4902	0.95047	0.0:0.0:1.0:0.0	.	.	.	.	X	495;523;495;495;495;495;523;523;523;495;271;163	.	ENSP00000340054:E495X	E	+	1	0	ERC1	1095458	1.000000	0.71417	0.935000	0.37517	0.059000	0.15707	9.737000	0.98831	2.780000	0.95670	0.585000	0.79938	GAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		47	115	0	0	0	1	0	47	115				
ARSI	340075	broad.mit.edu	37	5	149676882	149676882	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr5:149676882C>A	ENST00000328668.7	-	2	2184	c.1605G>T	c.(1603-1605)agG>agT	p.R535S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	535					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCGAGCCCTCCCTTCCT	0.552																																						uc003lrv.2																			0		p.G534W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1603-1605)agG>agT		Homo sapiens arylsulfatase family, member I (ARSI), mRNA.							105.0	116.0	112.0					5																	149676882		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676882C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1605G>T	5.37:g.149676882C>A	ENSP00000333395:p.Arg535Ser						p.R535S	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2194	-			535					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1605G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937748	0.00484	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97016	-4.21;-3.32	4.56	1.7	0.24286	.	0.581829	0.18755	N	0.132057	D	0.87935	0.6303	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73789	-0.3872	10	0.09084	T	0.74	.	2.2815	0.04115	0.1346:0.4932:0.132:0.2401	.	535	Q5FYB1	ARSI_HUMAN	S	535;392	ENSP00000333395:R535S;ENSP00000426879:R392S	ENSP00000333395:R535S	R	-	3	2	ARSI	149657075	0.003000	0.15002	0.506000	0.27664	0.168000	0.22595	0.237000	0.17985	0.520000	0.28426	0.643000	0.83706	AGG		0.552	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		109	161	0	0	0	1	0	109	161				
NAA40	79829	broad.mit.edu	37	11	63720256	63720256	+	Missense_Mutation	SNP	C	C	T	rs536599515		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:63720256C>T	ENST00000377793.4	+	6	540	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	NAA40_ENST00000542163.1_Missense_Mutation_p.R126W|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	147	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCAAGGTGCGGCGGAAAGG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21611	0.0		0.0	False		,,,				2504	0.0					uc009yoz.3																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(439-441)Cgg>Tgg		Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.							93.0	82.0	85.0					11																	63720256		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720256C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.439C>T	11.37:g.63720256C>T	ENSP00000367024:p.Arg147Trp					NAA40_uc010rmw.2_Missense_Mutation_p.R107W|NAA40_uc010rmx.2_Missense_Mutation_p.R126W|NAA40_uc010rmy.2_Non-coding_Transcript	p.R147W	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN			5	566	+			147			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.439C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333728	0.81801	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.61742	0.08;0.08;0.08	5.94	5.02	0.67125	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.80190	-0.1485	10	0.87932	D	0	-10.5196	13.6677	0.62405	0.2807:0.7193:0.0:0.0	.	107;147	B4DU10;Q86UY6	.;NAA40_HUMAN	W	147;107;126	ENSP00000367024:R147W;ENSP00000407578:R107W;ENSP00000442055:R126W	ENSP00000367024:R147W	R	+	1	2	NAA40	63476832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.797000	0.26999	1.487000	0.48415	0.650000	0.86243	CGG		0.542	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		4	118	0	0	0	1	0	4	118				
LTBP2	4053	broad.mit.edu	37	14	74975354	74975354	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:74975354A>G	ENST00000261978.4	-	24	3991	c.3605T>C	c.(3604-3606)cTg>cCg	p.L1202P	LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1202	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCGCGCACAGACAGAAGAA	0.627																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)cTg>cCg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							45.0	55.0	51.0					14																	74975354		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975354A>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3605T>C	14.37:g.74975354A>G	ENSP00000261978:p.Leu1202Pro						p.L1202P	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	23	3992	-			1202			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3605T>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835711	0.71373	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92495	-3.05;-3.05	5.2	5.2	0.72013	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37348	N	0.002128	D	0.92325	0.7565	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.90635	0.4570	10	0.25751	T	0.34	.	13.7931	0.63155	1.0:0.0:0.0:0.0	.	1202	Q14767	LTBP2_HUMAN	P	1202	ENSP00000261978:L1202P;ENSP00000451477:L1202P	ENSP00000261978:L1202P	L	-	2	0	LTBP2	74045107	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.645000	0.74343	2.183000	0.69458	0.379000	0.24179	CTG		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	81	0	0	0	1	0	4	81				
TG	7038	broad.mit.edu	37	8	133920500	133920500	+	Missense_Mutation	SNP	G	G	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:133920500G>C	ENST00000220616.4	+	18	3957	c.3917G>C	c.(3916-3918)tGc>tCc	p.C1306S	TG_ENST00000377869.1_Missense_Mutation_p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1306					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAAGATGTGCAGTGCTGAC	0.597																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3916-3918)tGc>tCc		Homo sapiens thyroglobulin (TG), mRNA.							72.0	66.0	68.0					8																	133920500		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920500G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3917G>C	8.37:g.133920500G>C	ENSP00000220616:p.Cys1306Ser					TG_uc010mdw.3_Missense_Mutation_p.C65S	p.C1306S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	17	3958	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1306					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3917G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324658	0.60634	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.72394	-0.65;-0.57	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.70159	0.3192	M	0.71581	2.175	0.41655	D	0.989156	P	0.39480	0.675	B	0.37091	0.241	T	0.76044	-0.3103	10	0.87932	D	0	.	14.8675	0.70427	0.0:0.0:1.0:0.0	.	1306	P01266	THYG_HUMAN	S	1306;112;1306	ENSP00000367100:C1306S;ENSP00000220616:C1306S	ENSP00000220616:C1306S	C	+	2	0	TG	133989682	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.889000	0.69766	2.567000	0.86603	0.650000	0.86243	TGC		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	72	0	0	0	1	0	47	72				
OR56B4	196335	broad.mit.edu	37	11	6129771	6129771	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:6129771C>A	ENST00000316529.3	+	1	858	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTCATCCTCTTCCACAC	0.478																																						uc010qzx.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(763-765)Ctc>Atc		Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.							142.0	129.0	134.0					11																	6129771		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129771C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.763C>A	11.37:g.6129771C>A	ENSP00000321196:p.Leu255Ile						p.L255I	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	763	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	255					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.763C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716505	0.48622	.	.	ENSG00000180919	ENST00000316529	T	0.00256	8.42	4.06	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33401	U	0.004951	T	0.00356	0.0011	M	0.76433	2.335	0.09310	N	1	P	0.49559	0.925	P	0.59012	0.85	T	0.43147	-0.9409	10	0.66056	D	0.02	.	5.1562	0.15036	0.1688:0.6291:0.0:0.2021	.	255	Q8NH76	O56B4_HUMAN	I	255	ENSP00000321196:L255I	ENSP00000321196:L255I	L	+	1	0	OR56B4	6086347	0.001000	0.12720	0.808000	0.32385	0.873000	0.50193	0.468000	0.22051	0.432000	0.26286	0.556000	0.70494	CTC		0.478	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		4	83	0	0	0	1	0	4	83				
ADAMTS8	11095	broad.mit.edu	37	11	130275958	130275958	+	Missense_Mutation	SNP	C	C	T	rs367590895		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:130275958C>T	ENST00000257359.6	-	9	2871	c.2165G>A	c.(2164-2166)aGc>aAc	p.S722N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	722	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCCGGGTGGCTCCGCTGCTT	0.542																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2164-2166)aGc>aAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.		C	ASN/SER	0,4212		0,0,2106	78.0	81.0	80.0		2165	4.4	1.0	11		80	1,8435		0,1,4217	no	missense	ADAMTS8	NM_007037.4	46	0,1,6323	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	722/890	130275958	1,12647	2106	4218	6324	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275958C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2165G>A	11.37:g.130275958C>T	ENSP00000257359:p.Ser722Asn					ADAMTS8_uc001qgf.3_Missense_Mutation_p.S203N	p.S722N	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	8	2523	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	722			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2165G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433160	0.43224	0.0	1.19E-4	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50813	0.73	5.35	4.43	0.53597	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.60455	1.87	0.51233	D	0.999919	P;B	0.46706	0.883;0.363	P;B	0.55222	0.771;0.267	T	0.52139	-0.8615	10	0.09590	T	0.72	.	15.3481	0.74359	0.1409:0.8591:0.0:0.0	.	722;203	Q9UP79;B3KVX9	ATS8_HUMAN;.	N	120;722;751	ENSP00000257359:S722N	ENSP00000257359:S722N	S	-	2	0	ADAMTS8	129781168	1.000000	0.71417	0.988000	0.46212	0.536000	0.34869	4.689000	0.61723	1.218000	0.43458	0.467000	0.42956	AGC		0.542	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		92	132	0	0	0	1	0	92	132				
GOLGB1	2804	broad.mit.edu	37	3	121409980	121409980	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr3:121409980G>A	ENST00000340645.5	-	14	8341	c.8216C>T	c.(8215-8217)tCt>tTt	p.S2739F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2744F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2739					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAACTCATAGACCTTCCAAA	0.398																																						uc010hrc.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8230-8232)tCt>tTt		Homo sapiens golgin B1 (GOLGB1), mRNA.							190.0	189.0	189.0					3																	121409980		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409980G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8216C>T	3.37:g.121409980G>A	ENSP00000341848:p.Ser2739Phe					GOLGB1_uc003eei.4_Missense_Mutation_p.S2739F|GOLGB1_uc003eej.4_Missense_Mutation_p.S2705F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S2664F	p.S2744F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	8357	-			2739					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8231C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525122	0.44969	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.47451	0.1446	M	0.70595	2.14	0.53005	D	0.999961	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.987;0.991	T	0.42224	-0.9464	10	0.66056	D	0.02	.	17.1545	0.86787	0.0:0.0:1.0:0.0	.	2744;2744;2739	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2739;2744	ENSP00000341848:S2739F;ENSP00000377275:S2744F	ENSP00000341848:S2739F	S	-	2	0	GOLGB1	122892670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.269000	0.95684	2.642000	0.89623	0.655000	0.94253	TCT		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	176	0	0	0	1	0	6	176				
DNAH8	1769	broad.mit.edu	37	6	38775405	38775405	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr6:38775405C>G	ENST00000359357.3	+	22	2773	c.2519C>G	c.(2518-2520)gCt>gGt	p.A840G	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G|DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	840					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGTCTTTGCTTTTTTCTCT	0.343																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3169-3171)gCt>gGt		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							100.0	101.0	101.0					6																	38775405		2202	4296	6498	SO:0001583	missense	1769							g.chr6:38775405C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2519C>G	6.37:g.38775405C>G	ENSP00000352312:p.Ala840Gly					DNAH8_uc003ooe.2_Missense_Mutation_p.A840G	p.A1057G	NM_001206927	NP_001193856					23	3279	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3170C>G		.	.	.	.	.	.	.	.	.	.	C	12.81	2.050553	0.36181	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.8;1.79;1.77	6.07	5.2	0.72013	.	0.205021	0.42682	D	0.000666	T	0.11281	0.0275	L	0.51422	1.61	0.39791	D	0.972436	B	0.06786	0.001	B	0.08055	0.003	T	0.06789	-1.0807	10	0.21014	T	0.42	.	12.6766	0.56897	0.0:0.9231:0.0:0.0769	.	840	Q96JB1	DYH8_HUMAN	G	1045;1045;840;840	ENSP00000333363:A1045G;ENSP00000352312:A840G;ENSP00000402294:A840G	ENSP00000333363:A1045G	A	+	2	0	DNAH8	38883383	0.961000	0.32948	0.991000	0.47740	0.994000	0.84299	1.700000	0.37815	1.591000	0.50007	0.650000	0.86243	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		28	65	0	0	0	1	0	28	65				
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						uc001fsw.1																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.							149.0	140.0	143.0					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			0	931	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	135	0	0	0	1	0	3	135				
NOX5	79400	broad.mit.edu	37	15	69331268	69331268	+	Silent	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:69331268C>A	ENST00000388866.3	+	9	1484	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000530406.2_Silent_p.I453I|NOX5_ENST00000455873.3_Silent_p.I446I|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Silent_p.I463I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	481	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGAACATCCCCACCATTG	0.507																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1441-1443)atC>atA		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							241.0	224.0	230.0					15																	69331268		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69331268C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1443C>A	15.37:g.69331268C>A						MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I435I|NOX5_uc002arp.2_Silent_p.I463I|NOX5_uc010bid.2_Silent_p.I446I|NOX5_uc010bie.2_Silent_p.I281I|NOX5_uc002arr.2_Silent_p.I453I|NOX5_uc010bif.2_Intron	p.I481I	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			8	1484	+			481			C-terminal catalytic region.|FAD-binding FR-type.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1443C>A	CCDS32276.2																																																																																				0.507	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		100	210	0	0	0	1	0	100	210				
