#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
OTOA	146183	broad.mit.edu	37	16	21726416	21726416	+	Silent	SNP	C	C	T			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:21726416C>T	ENST00000286149.4	+	13	1474	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	OTOA_ENST00000388958.3_Silent_p.A477A|OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000388957.3_Silent_p.A153A			Q7RTW8	OTOAN_HUMAN	otoancorin	491					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGAGAAGTGCCGTCTCCCAGT	0.577																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1429-1431)gcC>gcT		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							233.0	211.0	218.0					16																	21726416		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726416C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1473C>T	16.37:g.21726416C>T			Somatic				LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.A398A|OTOA_uc002dji.3_Silent_p.A153A|OTOA_uc010vbk.2_Silent_p.A125A	p.A477A	NM_144672	NP_653273	WXS	Illumina GAIIx	Phase_I	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1432	+			491					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1431C>T																																																																																					0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	355	0	0	0	1	0	8	355				
FN1	2335	broad.mit.edu	37	2	216285470	216285470	+	Missense_Mutation	SNP	C	C	G	rs142165052	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr2:216285470C>G	ENST00000359671.1	-	11	1866	c.1601G>C	c.(1600-1602)cGt>cCt	p.R534P	FN1_ENST00000357009.2_Missense_Mutation_p.R534P|FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000354785.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P			P02751	FINC_HUMAN	fibronectin 1	534	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCTTCATGACGCTTGTGGAA	0.478																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1600-1602)cGt>cCt		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						192.0	150.0	164.0					2																	216285470		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285470C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1601G>C	2.37:g.216285470C>G	ENSP00000352696:p.Arg534Pro		Somatic				FN1_uc002vfc.3_Missense_Mutation_p.R534P|FN1_uc002vfe.3_Missense_Mutation_p.R534P|FN1_uc002vff.3_Missense_Mutation_p.R534P|FN1_uc002vfg.3_Missense_Mutation_p.R534P|FN1_uc002vfh.3_Missense_Mutation_p.R534P|FN1_uc002vfi.3_Missense_Mutation_p.R534P|FN1_uc002vfj.3_Missense_Mutation_p.R534P|FN1_uc002vfb.3_Missense_Mutation_p.R534P|FN1_uc002vfl.3_Missense_Mutation_p.R534P	p.R534P	NM_212482	NP_997647	WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1867	-		Renal(323;0.127)	534			Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1601G>C		.	.	.	.	.	.	.	.	.	.	C	35	5.415201	0.96092	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.59824	0.2222	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.999;0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.99;0.999;0.99;0.952;1.0;1.0;0.995;0.999;1.0;1.0;0.999	T	0.60042	-0.7340	10	0.87932	D	0	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	534;534;534;534;534;534;534;534;534;534;534	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	534	ENSP00000394423:R534P;ENSP00000323534:R534P;ENSP00000338200:R534P;ENSP00000350534:R534P;ENSP00000346839:R534P;ENSP00000352696:R534P;ENSP00000265312:R534P;ENSP00000273049:R534P;ENSP00000349509:R534P;ENSP00000410422:R534P;ENSP00000415018:R534P;ENSP00000399538:R534P;ENSP00000348285:R534P;ENSP00000398907:R534P	ENSP00000265313:R534P	R	-	2	0	FN1	215993715	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	CGT		0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		23	46	0	0	0	1	0	23	46				
NKRF	55922	broad.mit.edu	37	X	118724002	118724002	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chrX:118724002G>A	ENST00000371527.1	-	2	2038	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000304449.5_Silent_p.N462N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	462					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTGTCATTCGGTTAAACTGAG	0.433																																						uc022cdk.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1429-1431)aaC>aaT		Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.							105.0	98.0	100.0					X																	118724002		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724002G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1386C>T	X.37:g.118724002G>A			Somatic				NKRF_uc004erq.3_Silent_p.N462N|NKRF_uc004err.3_Silent_p.N462N	p.N477N	NM_001173487	NP_060014	WXS	Illumina GAIIx	Phase_I	O15226	NKRF_HUMAN			3	1653	-			462					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1431C>T	CCDS35375.1																																																																																				0.433	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		3	32	0	0	0	1	0	3	32				
SETD6	79918	broad.mit.edu	37	16	58549787	58549787	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:58549787G>A	ENST00000219315.4	+	2	170	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SETD6_ENST00000418480.1_Intron|SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	40					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GTCCCAAGGTGAGCGAGCGAg	0.756																																						uc002ens.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(118-120)gtG>gtA		Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.							4.0	6.0	5.0					16																	58549787		2001	3990	5991	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58549787G>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.120G>A	16.37:g.58549787G>A			Somatic				SETD6_uc010cdl.2_Silent_p.V40V|SETD6_uc021tjh.1_Intron|SETD6_uc002enr.3_Intron|SETD6_uc010cdm.3_Intron|SETD6_uc010vij.1_Intron	p.V40V	NM_001160305	NP_001153777	WXS	Illumina GAIIx	Phase_I	Q8TBK2	SETD6_HUMAN			1	179	+			40			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.120G>A	CCDS54013.1																																																																																				0.756	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		4	13	0	0	0	1	0	4	13				
DNAJC11	55735	broad.mit.edu	37	1	6696245	6696245	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:6696245T>C	ENST00000377577.5	-	15	1709	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	529						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGAACTGATAGAGCACTTT	0.547																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1585-1587)tAt>tGt		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							89.0	78.0	82.0					1																	6696245		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696245T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1586A>G	1.37:g.6696245T>C	ENSP00000366800:p.Tyr529Cys		Somatic				DNAJC11_uc001aog.2_Missense_Mutation_p.Y477C|DNAJC11_uc010nzu.1_Missense_Mutation_p.Y439C	p.Y529C	NM_018198	NP_060668	WXS	Illumina GAIIx	Phase_I	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1692	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	529					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1586A>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401009	0.83120	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.70869	0.2;0.2;-0.04;-0.52	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91921	0.5547	10	0.87932	D	0	-18.2713	14.8449	0.70254	0.0:0.0:0.0:1.0	.	439;477;529	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	C	529;477;491;439	ENSP00000366800:Y529C;ENSP00000294401:Y477C;ENSP00000444020:Y491C;ENSP00000366796:Y439C	ENSP00000294401:Y477C	Y	-	2	0	DNAJC11	6618832	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.502000	0.81614	2.095000	0.63458	0.533000	0.62120	TAT		0.547	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		22	55	0	0	0	1	0	22	55				
SAAL1	113174	broad.mit.edu	37	11	18111042	18111042	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:18111042T>G	ENST00000524803.1	-	7	654	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T|SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	202										breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418																																						uc001mnq.3																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(604-606)aAg>aCg		Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.							68.0	64.0	66.0					11																	18111042		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18111042T>G	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.605A>C	11.37:g.18111042T>G	ENSP00000432487:p.Lys202Thr		Somatic				SAAL1_uc001mnr.3_Missense_Mutation_p.K202T	p.K202T	NM_138421	NP_612430	WXS	Illumina GAIIx	Phase_I	Q96ER3	SAAL1_HUMAN			6	655	-			202					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.605A>C	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945256	0.73672	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.109289	0.64402	D	0.000005	T	0.54271	0.1848	M	0.66939	2.045	0.41074	D	0.985476	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.60236	0.871;0.871;0.871	T	0.57100	-0.7869	10	0.52906	T	0.07	-17.9516	14.3138	0.66434	0.0:0.0:0.0:1.0	.	202;202;202	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	T	202;202;39;91;202;191	ENSP00000432487:K202T;ENSP00000300013:K202T;ENSP00000432044:K39T;ENSP00000436031:K91T;ENSP00000432216:K202T;ENSP00000431489:K191T	ENSP00000300013:K202T	K	-	2	0	SAAL1	18067618	1.000000	0.71417	0.967000	0.41034	0.923000	0.55619	6.648000	0.74359	2.114000	0.64651	0.533000	0.62120	AAG		0.418	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	29	0	0	0	1	0	11	29				
FANCD2	2177	broad.mit.edu	37	3	10106101	10106101	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr3:10106101T>C	ENST00000419585.1	+	22	2170	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000287647.3_Missense_Mutation_p.V670A			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	670					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACTCCTGTGTTGTTCCGGAA	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2008-2010)gTt>gCt	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							257.0	236.0	243.0					3																	10106101		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106101T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2009T>C	3.37:g.10106101T>C	ENSP00000398754:p.Val670Ala		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.V670A|FANCD2_uc003buy.1_Missense_Mutation_p.V670A|FANCD2_uc010hcw.1_Non-coding_Transcript	p.V670A	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	21	2087	+			670					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2009T>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	4.641	0.119185	0.08881	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.58	-11.2	0.00127	.	0.581511	0.19588	N	0.110684	T	0.13415	0.0325	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.18808	-1.0325	10	0.09590	T	0.72	.	14.2209	0.65826	0.2175:0.7014:0.0:0.0811	.	670;670	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	A	670	ENSP00000287647:V670A;ENSP00000373318:V670A;ENSP00000373317:V670A;ENSP00000398754:V670A	ENSP00000287647:V670A	V	+	2	0	FANCD2	10081101	0.000000	0.05858	0.000000	0.03702	0.742000	0.42306	-1.757000	0.01811	-2.571000	0.00468	0.477000	0.44152	GTT		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	68	0	0	0	1	0	28	68				
SERTAD3	29946	broad.mit.edu	37	19	40947564	40947564	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr19:40947564A>C	ENST00000322354.3	-	2	920	c.424T>G	c.(424-426)Ttg>Gtg	p.L142V	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	142					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCCCCAAGTACCGGGAG	0.572																																						uc002onu.4																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(424-426)Ttg>Gtg		Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.							71.0	76.0	74.0					19																	40947564		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947564A>C	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.424T>G	19.37:g.40947564A>C	ENSP00000325414:p.Leu142Val		Somatic				SERTAD3_uc002onv.4_Missense_Mutation_p.L142V|SERTAD3_uc021uut.1_Missense_Mutation_p.L142V	p.L142V	NM_013368	NP_976219	WXS	Illumina GAIIx	Phase_I	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	702	-			142					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.424T>G	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016010	0.35606	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	-1.94	0.07571	.	0.000000	0.34628	N	0.003814	T	0.11110	0.0271	N	0.08118	0	0.25122	N	0.99064	P	0.43094	0.799	B	0.33339	0.162	T	0.32161	-0.9917	9	0.44086	T	0.13	0.2269	10.3001	0.43648	0.4986:0.0:0.5014:0.0	.	142	Q9UJW9	SRTD3_HUMAN	V	142	.	ENSP00000325414:L142V	L	-	1	2	SERTAD3	45639404	0.993000	0.37304	0.910000	0.35882	0.722000	0.41435	0.767000	0.26575	-0.102000	0.12197	-0.256000	0.11100	TTG		0.572	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		27	44	0	0	0	1	0	27	44				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	78	0	0	0	1	0	62	78				
HEXA	3073	broad.mit.edu	37	15	72640388	72640388	+	Splice_Site	SNP	C	C	T	rs76173977	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr15:72640388C>T	ENST00000268097.5	-	9	1577		c.e9+1		HEXA_ENST00000566304.1_Splice_Site|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000429918.2_Splice_Site	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTTCCTCACGTCTGGATGT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		12621	0.0		0.002	False		,,,				2504	0.0					uc010ukn.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24	GRCh37	CS910444	HEXA	S	rs76173977	c.e9+1		Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.		C		0,4398		0,0,2199	60.0	60.0	60.0			5.6	1.0	15	dbSNP_132	60	4,8590	3.7+/-12.6	0,4,4293	yes	splice-5	HEXA	NM_000520.4		0,4,6492	TT,TC,CC		0.0465,0.0,0.0308			72640388	4,12988	2199	4297	6496	SO:0001630	splice_region_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72640388C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1073+1G>A	15.37:g.72640388C>T			Somatic				BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc002aun.4_Splice_Site_p.T358_splice|HEXA_uc010bix.3_Splice_Site_p.T358_splice|HEXA_uc010biy.2_Splice_Site_p.T221_splice|HEXA_uc010uko.1_Splice_Site_p.T184_splice	p.T369_splice	NM_000520	NP_000511	WXS	Illumina GAIIx	Phase_I	P06865	HEXA_HUMAN			9	1313	-			358					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Splice_Site	SNP	ENST00000268097.5	37	c.1106_splice	CCDS10243.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	27.0	4.795659	0.90453	0.0	4.65E-4	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6854	0.88255	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEXA	70427442	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.258000	0.78371	2.594000	0.87642	0.655000	0.94253	.		0.577	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Intron	8	22	0	0	0	1	0	8	22				
LTBP3	4054	broad.mit.edu	37	11	65319868	65319868	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:65319868G>A	ENST00000301873.5	-	7	1464	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	399					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCTCCTCCGGTTTGTCTGC	0.667											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oej.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1195-1197)cCg>cTg		Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.							51.0	59.0	56.0					11																	65319868		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319868G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1196C>T	11.37:g.65319868G>A	ENSP00000301873:p.Pro399Leu		Somatic	OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc010roi.2_Missense_Mutation_p.P282L|LTBP3_uc001oei.3_Missense_Mutation_p.P399L|LTBP3_uc010roj.2_Missense_Mutation_p.P100L|LTBP3_uc010rok.1_Missense_Mutation_p.P310L|U7_uc021qll.1_5'Flank	p.P399L	NM_001130144	NP_001123616	WXS	Illumina GAIIx	Phase_I	Q9NS15	LTBP3_HUMAN			6	1465	-			399					O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1196C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210295	0.79240	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866;ENST00000530426	D;D;D;T;T	0.93547	-3.24;-1.5;-3.24;-1.42;2.11	3.99	3.99	0.46301	Matrix fibril-associated (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	N	0.17278	0.47	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.99;0.996;0.99;0.987;0.999	P;P;B;B;P	0.59643	0.482;0.742;0.409;0.401;0.861	D	0.89448	0.3728	10	0.25106	T	0.35	.	13.6128	0.62091	0.0:0.0:1.0:0.0	.	310;25;282;399;399	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2	.;.;.;LTBP3_HUMAN;.	L	399;399;25;310;79	ENSP00000326647:P399L;ENSP00000301873:P399L;ENSP00000441912:P25L;ENSP00000435276:P310L;ENSP00000432476:P79L	ENSP00000301873:P399L	P	-	2	0	LTBP3	65076444	0.995000	0.38212	0.992000	0.48379	0.898000	0.52572	3.734000	0.55037	2.064000	0.61679	0.407000	0.27541	CCG		0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		43	68	0	0	0	1	0	43	68				
BMP3	651	broad.mit.edu	37	4	81952594	81952594	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr4:81952594G>A	ENST00000282701.2	+	1	476	c.156G>A	c.(154-156)ccG>ccA	p.P52P		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	52					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCTGCAGCCGCAAGACAAGG	0.672																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(154-156)ccG>ccA		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							29.0	32.0	31.0					4																	81952594		2203	4298	6501	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952594G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.156G>A	4.37:g.81952594G>A			Somatic					p.P52P	NM_001201	NP_001192	WXS	Illumina GAIIx	Phase_I	P12645	BMP3_HUMAN			0	476	+			52					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.156G>A	CCDS3588.1																																																																																				0.672	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			3	44	0	0	0	1	0	3	44				
NBPF14	25832	broad.mit.edu	37	1	148012561	148012562	+	Frame_Shift_Del	DEL	AT	AT	-	rs587658653	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:148012561_148012562delAT	ENST00000369219.1	-	12	1413_1414	c.1397_1398delAT	c.(1396-1398)tatfs	p.Y466fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	466	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGGAACTTCCATAGGGCTGGCA	0.47																																						uc001eqq.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1396-1398)tatfs		Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.																																				SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012561_148012562delAT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1397_1398delAT	1.37:g.148012561_148012562delAT	ENSP00000358221:p.Tyr466fs		Somatic				NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc021owc.1_Frame_Shift_Del_p.Y133fs|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Frame_Shift_Del_p.Y621fs|NBPF14_uc021owh.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	p.Y466fs	NM_015383	NP_056198	WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			11	1429_1430	-	all_hematologic(923;0.032)		466			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1397_1398delAT																																																																																					0.470	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		2	4						2	4	---	---	---	---
