#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
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_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000388957.3_Silent_p.A153A|OTOA_ENST00000388958.3_Silent_p.A477A			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																																						ENST00000388958.3																			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		otoancorin							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						OTOA_ENST00000388957.3_Silent_p.A153A|OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000286149.4_Silent_p.A491A	p.A477A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	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	0.013537	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_ENST00000421182.1_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_ENST00000345488.5_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|FN1_ENST00000357009.2_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																																						ENST00000354785.4																		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		fibronectin 1	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					FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000359671.1_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000357009.2_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P	p.R534P			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)	11	1970	-		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	0.005443	0	23	46				
SLC43A2	124935	broad.mit.edu	37	17	1479938	1479938	+	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.chr17:1479938G>A	ENST00000301335.5	-	13	1589	c.1501C>T	c.(1501-1503)Ccg>Tcg	p.P501S	SLC43A2_ENST00000382147.4_Missense_Mutation_p.P505S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P364S|SLC43A2_ENST00000571650.1_Missense_Mutation_p.P505S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	501					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGAAACAGCGGCTGCTGCAGA	0.642																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1513-1515)Ccg>Tcg		solute carrier family 43 (amino acid system L transporter), member 2							40.0	40.0	40.0					17																	1479938		2203	4299	6502	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1479938G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1501C>T	17.37:g.1479938G>A	ENSP00000301335:p.Pro501Ser					SLC43A2_ENST00000382147.4_Missense_Mutation_p.P505S|SLC43A2_ENST00000301335.4_Missense_Mutation_p.P501S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P364S	p.P505S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	14	1819	-			501					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1513C>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274700	0.95459	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.80824	-1.42;-1.42;-1.42	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	M	0.88310	2.945	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.959;0.99	D	0.91130	0.4937	10	0.45353	T	0.12	-0.1248	19.6581	0.95851	0.0:0.0:1.0:0.0	.	501;505	Q8N370;Q8N370-3	LAT4_HUMAN;.	S	501;505;364	ENSP00000301335:P501S;ENSP00000371582:P505S;ENSP00000408284:P364S	ENSP00000301335:P501S	P	-	1	0	SLC43A2	1426688	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.170000	0.94795	2.735000	0.93741	0.655000	0.94253	CCG		0.642	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		3	59	0	0	0	0.009096	0	3	59				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		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.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	79	0	0	0	0.009096	0	4	79				
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																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(424-426)Ttg>Gtg		SERTA domain containing 3							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					SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V	p.L142V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	920	-			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	0.010818	0	27	44				
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																																						ENST00000219315.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(118-120)gtG>gtA		SET domain containing 6							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						SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron|SETD6_ENST00000418480.1_Intron	p.V40V			Q8TBK2	SETD6_HUMAN			2	170	+			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	0.009096	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_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C	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																																						ENST00000377577.5																			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		DnaJ (Hsp40) homolog, subfamily C, member 11							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					DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C	p.Y529C	NM_018198.3	NP_060668.2	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)	15	1709	-	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	0.016522	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_ENST00000529318.1_Missense_Mutation_p.K202T|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	202										breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(604-606)aAg>aCg		serum amyloid A-like 1							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					SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T|SAAL1_ENST00000533851.1_5'UTR	p.K202T			Q96ER3	SAAL1_HUMAN			7	654	-			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	0.010729	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_ENST00000287647.3_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383806.1_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																													ENST00000287647.3			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	Fanconi anemia, complementation group D2							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					FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000419585.1_Missense_Mutation_p.V670A	p.V670A	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2102	+			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	0.014410	0	28	68				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	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.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	21	0	0	0	0.004672	0	3	21				
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)																												ENST00000369535.4	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(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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		neuroblastoma RAS viral (v-ras) oncogene homolog							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	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|Ras protein signal transduction	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)					p.Q61R	NM_002524.4	NP_002515.1	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)	3	435	-	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	0.014410	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_ENST00000429918.2_Splice_Site|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000457859.2_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Splice_Site|RP11-106M3.2_ENST00000379915.4_RNA	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					ENST00000268097.5																			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		hexosaminidase A (alpha polypeptide)		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						HEXA_ENST00000429918.2_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site|HEXA_ENST00000566304.1_Splice_Site		NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			9	1577	-								B4DKE7|E7ENH7|Q53HS8|Q6AI32	Splice_Site	SNP	ENST00000268097.5	37		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	0.006214	0	8	22				
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_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000304449.5_Silent_p.N462N	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																																						ENST00000371527.1																			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.(1384-1386)aaC>aaT		NFKB repressing factor							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						NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.N462N	p.N462N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2038	-			462					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1386C>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	0.004672	0	3	32				
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_ENST00000536982.1_Missense_Mutation_p.P25L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L	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)																										ENST00000301873.5																			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		latent transforming growth factor beta binding protein 3							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		OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L	p.P399L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			7	1464	-			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	0.014410	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																																						ENST00000282701.2																			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		bone morphogenetic protein 3							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							p.P52P	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			1	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	0.014758	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																																						ENST00000369219.1																			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)tfs		neuroblastoma breakpoint family, member 14																																				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						p.Y466fs			Q5TI25	NBPFE_HUMAN			12	1413_1414	-	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	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121410314	121410316	+	In_Frame_Del	DEL	CTA	CTA	-			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.chr3:121410314_121410316delCTA	ENST00000340645.5	-	14	8005_8007	c.7880_7882delTAG	c.(7879-7884)ttagga>tga	p.2627_2628LG>*	GOLGB1_ENST00000393667.3_In_Frame_Del_p.2632_2633LG>*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2627					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)		TGATAGAGTCCTAAAGTACCTTC	0.369																																						ENST00000393667.3																			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.(7894-7899)tga>t		golgin B1																																				SO:0001651	inframe_deletion	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410314_121410316delCTA	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.7880_7882delTAG	3.37:g.121410314_121410316delCTA	ENSP00000341848:p.Leu2627_Gly2628delins*					GOLGB1_ENST00000340645.5_In_Frame_Del_p.LG2627del	p.LG2632del	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8005_8007	-			2627					B2ZZ91|D3DN92|E7EP74|Q14398	In_Frame_Del	DEL	ENST00000340645.5	37	c.7895_7897delTAG	CCDS3004.1																																																																																				0.369	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		9	25						9	25	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A	rs552593852|rs199627800		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.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGTATCTCTGGAAAAAAAAATA	0.332																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743846_102743847insA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743855_102743855dupA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.332	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		2	4						2	4	---	---	---	---
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-	rs151075597	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.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739														302	0.0603035	0.0719	0.1254	5008	,	,		10517	0.001		0.0924	False		,,,				2504	0.0266					ENST00000354300.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-99)gac>g		PTC7 protein phosphatase homolog (S. cerevisiae)				149,1205		60,29,588						4.1	1.0		dbSNP_126	4	388,2704		139,110,1297	no	coding	PPTC7	NM_139283.1		199,139,1885	A1A1,A1R,RR		12.5485,11.0044,12.0783				537,3909				SO:0001651	inframe_deletion	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:111020740_111020742delCGC	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.95_97delGCG	12.37:g.111020749_111020751delCGC	ENSP00000346255:p.Gly32del						p.GD32del	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN			1	383_385	-			32			Gly-rich.		B3KWC5|Q68DZ7|Q6UY82	In_Frame_Del	DEL	ENST00000354300.3	37	c.95_97delGCG	CCDS9149.1																																																																																				0.739	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		3	6						3	6	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			9	382						9	382	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55593835	55593836	+	Frame_Shift_Ins	INS	-	-	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.chr19:55593835_55593836insG	ENST00000201647.6	+	12	1135_1136	c.1079_1080insG	c.(1078-1083)tcggggfs	p.SG360fs	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.SG233fs|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Ins_p.SG342fs|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.SG296fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	360					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGAACACGTCGGGGGGGCCGG	0.663																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1078-1080)tggfs		EPS8-like 1																																				SO:0001589	frameshift_variant	54869					cytoplasm		g.chr19:55593835_55593836insG	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1086dupG	19.37:g.55593842_55593842dupG	ENSP00000201647:p.Ser360fs					EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.W233fs|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Ins_p.W342fs|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.W296fs	p.W360fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1135_1136	+			360					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Ins	INS	ENST00000201647.6	37	c.1079_1080insG	CCDS12914.1																																																																																				0.663	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		7	181						7	181	---	---	---	---
