#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
ABCA3	21	broad.mit.edu	37	16	2358593	2358593	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:2358593G>A	ENST00000301732.5	-	11	1843	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	381					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGAAGAAGTAGAGGAAGCCTC	0.602																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1141-1143)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 3							106.0	90.0	96.0					16																	2358593		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2358593G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1143C>T	16.37:g.2358593G>A						ABCA3_ENST00000382381.3_Intron	p.L381L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			11	1843	-		Ovarian(90;0.17)	381					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1143C>T	CCDS10466.1																																																																																				0.602	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	67	0	0	0	0.007413	0	17	67				
B3GNT5	84002	broad.mit.edu	37	3	182988119	182988119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:182988119G>A	ENST00000326505.3	+	2	1063	c.533G>A	c.(532-534)tGg>tAg	p.W178*	B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	178					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTCAGTTGGGCAAATACC	0.343																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(532-534)tGg>tAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							82.0	81.0	81.0					3																	182988119		2203	4300	6503	SO:0001587	stop_gained	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988119G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.533G>A	3.37:g.182988119G>A	ENSP00000316173:p.Trp178*					B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron	p.W178*	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1063	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		178					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	ENST00000326505.3	37	c.533G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	43	10.122265	0.99342	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000316173:W178X	W	+	2	0	B3GNT5	184470813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.736000	0.93811	0.557000	0.71058	TGG		0.343	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		32	95	0	0	0	0.001786	0	32	95				
MYOCD	93649	broad.mit.edu	37	17	12656261	12656261	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr17:12656261G>A	ENST00000343344.4	+	10	1656	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	AC005358.1_ENST00000609971.1_Silent_p.Q456Q|MYOCD_ENST00000425538.1_Silent_p.Q552Q|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	552					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAGAAGCAGAAAAGGAATA	0.522																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1654-1656)caG>caA		myocardin							37.0	39.0	38.0					17																	12656261		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656261G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1656G>A	17.37:g.12656261G>A						MYOCD_ENST00000343344.4_Silent_p.Q552Q|MYOCD_ENST00000395988.1_Silent_p.Q456Q	p.Q552Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1856	+			552					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1656G>A	CCDS11163.1																																																																																				0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	51	0	0	0	0.003080	0	7	51				
SMARCC2	6601	broad.mit.edu	37	12	56571852	56571852	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:56571852G>C	ENST00000267064.4	-	15	1422	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|SMARCC2_ENST00000394023.3_Missense_Mutation_p.L446V	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	446	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCGGGGAGAGCCCTCCGC	0.512																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1336-1338)Ctc>Gtc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							130.0	121.0	124.0					12																	56571852		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571852G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1336C>G	12.37:g.56571852G>C	ENSP00000267064:p.Leu446Val					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|SMARCC2_ENST00000267064.4_Missense_Mutation_p.L446V	p.L446V	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		15	1441	-			446			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1336C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194055	0.78902	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.59502	0.26;0.27;0.28	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.075949	0.50627	D	0.000111	T	0.71986	0.3405	M	0.75884	2.315	0.48762	D	0.9997	D;D;D;D;D	0.69078	0.997;0.974;0.979;0.997;0.974	D;D;D;D;D	0.76071	0.987;0.953;0.973;0.987;0.953	T	0.73668	-0.3910	10	0.62326	D	0.03	-13.438	9.8703	0.41170	0.0974:0.0:0.9026:0.0	.	335;446;451;446;446	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	446	ENSP00000449396:L446V;ENSP00000302919:L446V;ENSP00000267064:L446V	ENSP00000267064:L446V	L	-	1	0	SMARCC2	54858119	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.298000	0.65710	2.582000	0.87167	0.655000	0.94253	CTC		0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	30	0	0	0	0.003080	0	7	30				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	275	0	0	0	0.000248	0	4	275				
TMTC2	160335	broad.mit.edu	37	12	83289743	83289743	+	Silent	SNP	C	C	T	rs143764076		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:83289743C>T	ENST00000321196.3	+	3	1508	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TMTC2_ENST00000549919.1_Silent_p.L261L|TMTC2_ENST00000548305.1_Silent_p.L267L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	267					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACAGCCTCCTCACCCGCACTC	0.532																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(781-783)ctC>ctT		transmembrane and tetratricopeptide repeat containing 2							140.0	130.0	133.0					12																	83289743		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289743C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.801C>T	12.37:g.83289743C>T						TMTC2_ENST00000548305.1_Silent_p.L267L|TMTC2_ENST00000321196.3_Silent_p.L267L	p.L261L			Q8N394	TMTC2_HUMAN			4	2588	+			267					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.783C>T	CCDS9025.1																																																																																				0.532	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		35	160	0	0	0	0.004878	0	35	160				
ANKRD44	91526	broad.mit.edu	37	2	197975514	197975514	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:197975514G>A	ENST00000328737.2	-	9	962	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	321										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTGTGACCGTGTGAACCTT	0.428																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(886-888)Cgg>Tgg		ankyrin repeat domain 44							223.0	210.0	214.0					2																	197975514		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197975514G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.886C>T	2.37:g.197975514G>A	ENSP00000331516:p.Arg296Trp					ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W	p.R296W			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		9	962	-			321					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.247132	0.80024	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T;T	0.64260	2.4;2.41;-0.09;-0.09;-0.09;-0.09;2.4;-0.09;-0.09	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.43152	1.355	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75391	-0.3334	10	0.72032	D	0.01	.	16.31	0.82865	0.0:0.0:1.0:0.0	.	249;321;321	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	W	118;313;296;296;296;19;321;249;321	ENSP00000403415:R118W;ENSP00000282272:R313W;ENSP00000331516:R296W;ENSP00000402420:R296W;ENSP00000338794:R296W;ENSP00000416319:R19W;ENSP00000387141:R321W;ENSP00000437825:R249W;ENSP00000387233:R321W	ENSP00000282272:R313W	R	-	1	2	ANKRD44	197683759	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.155000	0.58131	2.600000	0.87896	0.563000	0.77884	CGG		0.428	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		5	210	0	0	0	0.001168	0	5	210				
FZD1	8321	broad.mit.edu	37	7	90894813	90894813	+	Silent	SNP	C	C	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr7:90894813C>A	ENST00000287934.2	+	1	1031	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	206	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACAAGTTCGGCTTCCAGTGGC	0.701																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(616-618)ggC>ggA		frizzled family receptor 1							46.0	51.0	49.0					7																	90894813		2203	4299	6502	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894813C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.618C>A	7.37:g.90894813C>A							p.G206G	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1031	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		206			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.618C>A	CCDS5620.1																																																																																				0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		16	56	1	0	1.15088e-07	0.004007	2.30175e-07	16	56				
EHD1	10938	broad.mit.edu	37	11	64622296	64622296	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:64622296G>C	ENST00000320631.3	-	5	1368	c.1114C>G	c.(1114-1116)Cag>Gag	p.Q372E	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	372					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCGCCTGGAACTTGCTG	0.642																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1114-1116)Cag>Gag		EH-domain containing 1							182.0	177.0	179.0					11																	64622296		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622296G>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1114C>G	11.37:g.64622296G>C	ENSP00000320516:p.Gln372Glu					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E	p.Q372E	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1368	-			372					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1114C>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	6.616	0.482159	0.12581	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510	T;T;T	0.41400	2.32;2.32;1.0	4.32	4.32	0.51571	.	0.251404	0.40064	N	0.001199	T	0.26882	0.0658	N	0.25825	0.765	0.42629	D	0.993376	B;B	0.17268	0.021;0.021	B;B	0.17098	0.017;0.017	T	0.08411	-1.0723	10	0.02654	T	1	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	372;372	B2R5U3;Q9H4M9	.;EHD1_HUMAN	E	372;372;348;386;236	ENSP00000320516:Q372E;ENSP00000352354:Q372E;ENSP00000391429:Q236E	ENSP00000320516:Q372E	Q	-	1	0	EHD1	64378872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.230000	0.58632	2.263000	0.75096	0.561000	0.74099	CAG		0.642	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		57	209	0	0	0	0.003610	0	57	209				
PAN3	255967	broad.mit.edu	37	13	28851441	28851441	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:28851441A>G	ENST00000380958.3	+	15	2269	c.2117A>G	c.(2116-2118)cAg>cGg	p.Q706R	PAN3_ENST00000399613.1_Missense_Mutation_p.Q506R|PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCAGGAATTCAGCGAGAGAAT	0.338																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1516-1518)cAg>cGg		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							109.0	113.0	112.0					13																	28851441		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28851441A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2117A>G	13.37:g.28851441A>G	ENSP00000370345:p.Gln706Arg					PAN3_ENST00000380958.3_Missense_Mutation_p.Q706R|PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R	p.Q506R			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	14	1580	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	706			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1517A>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289647	0.80914	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.40225	1.04;1.04;1.04	5.81	5.81	0.92471	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.56124	1.755	0.80722	D	1	D;D;D	0.71674	0.997;0.989;0.998	D;D;D	0.80764	0.99;0.979;0.994	T	0.54091	-0.8345	10	0.27785	T	0.31	-7.7026	16.1699	0.81801	1.0:0.0:0.0:0.0	.	706;394;652	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	R	706;506;394	ENSP00000370345:Q706R;ENSP00000382522:Q506R;ENSP00000282391:Q394R	ENSP00000282391:Q394R	Q	+	2	0	PAN3	27749441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.217000	0.71921	0.533000	0.62120	CAG		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		3	109	0	0	0	0.000248	0	3	109				
ITGB1	3688	broad.mit.edu	37	10	33200886	33200886	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:33200886C>T	ENST00000396033.2	-	12	1771	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	546	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GAATAAATTTCATTTGTATTA	0.403																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1636-1638)Gaa>Aaa		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							141.0	132.0	135.0					10																	33200886		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200886C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1636G>A	10.37:g.33200886C>T	ENSP00000379350:p.Glu546Lys					ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K	p.E546K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			12	1771	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	546			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1636G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737797	0.69304	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.07	6.07	0.98685	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.991;1.0	D;D;D;P;D	0.91635	0.999;0.997;0.999;0.785;0.999	D	0.85695	0.1309	10	0.16896	T	0.51	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	546;546;546;546;546	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	546	ENSP00000379350:E546K;ENSP00000388694:E546K;ENSP00000303351:E546K;ENSP00000364094:E546K	ENSP00000303351:E546K	E	-	1	0	ITGB1	33240892	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.743000	0.85020	2.885000	0.99019	0.655000	0.94253	GAA		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		21	106	0	0	0	0.001523	0	21	106				
ZNF236	7776	broad.mit.edu	37	18	74625777	74625777	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr18:74625777A>G	ENST00000253159.8	+	18	3176	c.2978A>G	c.(2977-2979)aAg>aGg	p.K993R	ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	993					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACCGGGGAAAAGCCCTACAAG	0.517																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2977-2979)aAg>aGg		zinc finger protein 236							96.0	103.0	101.0					18																	74625777		1979	4170	6149	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625777A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2978A>G	18.37:g.74625777A>G	ENSP00000253159:p.Lys993Arg					ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R	p.K993R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3176	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	993					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2978A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160992	0.57368	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24908	1.83;1.83	4.98	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.059365	0.64402	D	0.000005	T	0.15176	0.0366	N	0.12443	0.215	0.51233	D	0.999918	B	0.29162	0.235	B	0.29524	0.103	T	0.07121	-1.0789	10	0.72032	D	0.01	.	10.5053	0.44830	0.9237:0.0:0.0763:0.0	.	993	Q9UL36	ZN236_HUMAN	R	993	ENSP00000253159:K993R;ENSP00000444524:K993R	ENSP00000253159:K993R	K	+	2	0	ZNF236	72754765	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.191000	0.77763	0.763000	0.33175	-0.464000	0.05259	AAG		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			3	111	0	0	0	0.004672	0	3	111				
CNTRL	11064	broad.mit.edu	37	9	123927267	123927267	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr9:123927267T>A	ENST00000373855.1	+	35	5730	c.5470T>A	c.(5470-5472)Tta>Ata	p.L1824I	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I			Q7Z7A1	CNTRL_HUMAN	centriolin	1824					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAATCAAACTTAGAAAAGTT	0.398																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5470-5472)Tta>Ata		centriolin							84.0	77.0	80.0					9																	123927267		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927267T>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5470T>A	9.37:g.123927267T>A	ENSP00000362962:p.Leu1824Ile					CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I|CNTRL_ENST00000373845.2_3'UTR	p.L1824I			Q7Z7A1	CNTRL_HUMAN			35	5730	+			1824					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5470T>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873184	0.72180	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.22;1.22;0.95	6.04	2.29	0.28610	.	.	.	.	.	T	0.35537	0.0935	L	0.59436	1.845	0.23616	N	0.997285	P	0.49185	0.92	B	0.44108	0.441	T	0.24333	-1.0163	9	0.37606	T	0.19	.	1.6738	0.02817	0.1208:0.1602:0.3088:0.4103	.	1824	Q7Z7A1	CNTRL_HUMAN	I	1824;1824;1824;580;6;1272;506	ENSP00000362962:L1824I;ENSP00000238341:L1824I;ENSP00000362956:L1272I	ENSP00000238341:L1824I	L	+	1	2	CNTRL	122967088	0.902000	0.30710	1.000000	0.80357	0.993000	0.82548	0.023000	0.13533	0.539000	0.28788	0.460000	0.39030	TTA		0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	76	0	0	0	0.000248	0	4	76				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	80	0	0	0	0.004672	0	3	80				
GPC5	2262	broad.mit.edu	37	13	92345516	92345516	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:92345516C>T	ENST00000377067.3	+	3	773	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	134					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGAACATGGCCTTGGAGGCT	0.403																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(400-402)gCc>gTc		glypican 5							119.0	123.0	121.0					13																	92345516		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345516C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.401C>T	13.37:g.92345516C>T	ENSP00000366267:p.Ala134Val						p.A134V	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	773	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	134					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.401C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360843	0.82353	.	.	ENSG00000179399	ENST00000377067	T	0.47177	0.85	5.07	5.07	0.68467	.	0.115012	0.64402	D	0.000015	T	0.67040	0.2851	M	0.79258	2.445	0.43018	D	0.994563	P	0.46952	0.887	P	0.57548	0.823	T	0.72200	-0.4362	10	0.72032	D	0.01	.	17.4374	0.87555	0.0:1.0:0.0:0.0	.	134	P78333	GPC5_HUMAN	V	134	ENSP00000366267:A134V	ENSP00000366267:A134V	A	+	2	0	GPC5	91143517	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	5.920000	0.70017	2.351000	0.79841	0.467000	0.42956	GCC		0.403	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		20	84	0	0	0	0.001523	0	20	84				
TNFSF4	7292	broad.mit.edu	37	1	173155920	173155920	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:173155920T>C	ENST00000281834.3	-	3	423	c.287A>G	c.(286-288)aAc>aGc	p.N96S	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	96					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCCATCACAGTTGATGATGAC	0.458																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(286-288)aAc>aGc		tumor necrosis factor (ligand) superfamily, member 4							115.0	118.0	117.0					1																	173155920		2203	4300	6503	SO:0001583	missense	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155920T>C	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.287A>G	1.37:g.173155920T>C	ENSP00000281834:p.Asn96Ser					TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S	p.N96S	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN			3	423	-			96					Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.287A>G	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	T	9.580	1.123243	0.20959	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	D;D	0.94613	-3.47;-3.47	5.76	-8.73	0.00841	Tumour necrosis factor (2);Tumour necrosis factor-like (1);Tumour necrosis factor, conserved site (1);	1.693150	0.02418	N	0.082257	D	0.82365	0.5021	L	0.54323	1.7	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.73563	-0.3943	10	0.20046	T	0.44	0.119	9.1863	0.37172	0.0:0.457:0.3483:0.1948	.	96;46	P23510;Q8IV74	TNFL4_HUMAN;.	S	46;96;46	ENSP00000356691:N46S;ENSP00000281834:N96S	ENSP00000281834:N96S	N	-	2	0	TNFSF4	171422543	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	-1.701000	0.01903	-1.157000	0.02815	-0.250000	0.11733	AAC		0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			21	69	0	0	0	0.001882	0	21	69				
ARSK	153642	broad.mit.edu	37	5	94918766	94918766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr5:94918766G>A	ENST00000380009.4	+	4	768	c.563G>A	c.(562-564)aGa>aAa	p.R188K		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	188					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AACTGGTTAAGAAAGGAAGCA	0.388																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(562-564)aGa>aAa		arylsulfatase family, member K							132.0	128.0	129.0					5																	94918766		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918766G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.563G>A	5.37:g.94918766G>A	ENSP00000369346:p.Arg188Lys						p.R188K	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	4	768	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	188					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.563G>A	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107340	0.37145	.	.	ENSG00000164291	ENST00000380009	D	0.99885	-7.51	6.02	3.31	0.37934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.273372	0.40818	N	0.001014	D	0.99086	0.9686	L	0.28458	0.855	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	D	0.99986	1.3294	10	0.19590	T	0.45	-17.4236	9.0933	0.36623	0.359:0.0:0.641:0.0	.	188	Q6UWY0	ARSK_HUMAN	K	188	ENSP00000369346:R188K	ENSP00000369346:R188K	R	+	2	0	ARSK	94944522	1.000000	0.71417	0.998000	0.56505	0.619000	0.37552	2.021000	0.41020	0.447000	0.26695	-0.157000	0.13467	AGA		0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		24	64	0	0	0	0.003330	0	24	64				
CSGALNACT2	55454	broad.mit.edu	37	10	43651086	43651086	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:43651086C>T	ENST00000374466.3	+	2	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_ENST00000374464.1_Silent_p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(487-489)ctC>ctT		chondroitin sulfate N-acetylgalactosaminyltransferase 2							95.0	95.0	95.0					10																	43651086		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43651086C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.489C>T	10.37:g.43651086C>T						CSGALNACT2_ENST00000374464.1_Silent_p.L163L	p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	824	+			163					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.489C>T	CCDS7201.1																																																																																				0.413	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		14	65	0	0	0	0.003163	0	14	65				
OR4D9	390199	broad.mit.edu	37	11	59283197	59283197	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:59283197T>A	ENST00000329328.3	+	1	812	c.812T>A	c.(811-813)aTc>aAc	p.I271N		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GACACTGCCATCTCTGTCACC	0.532																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(811-813)aTc>aAc		olfactory receptor, family 4, subfamily D, member 9							203.0	187.0	193.0					11																	59283197		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283197T>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.812T>A	11.37:g.59283197T>A	ENSP00000328563:p.Ile271Asn						p.I271N	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	812	+			271					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.812T>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454887	0.43634	.	.	ENSG00000172742	ENST00000329328	T	0.42513	0.97	4.26	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.352642	0.20367	U	0.093737	T	0.62466	0.2430	M	0.84433	2.695	0.22412	N	0.999127	D	0.56521	0.976	P	0.62089	0.898	T	0.56080	-0.8038	10	0.87932	D	0	-10.5019	10.0764	0.42362	0.0:0.0:0.1694:0.8306	.	271	Q8NGE8	OR4D9_HUMAN	N	271	ENSP00000328563:I271N	ENSP00000328563:I271N	I	+	2	0	OR4D9	59039773	0.000000	0.05858	0.530000	0.27963	0.770000	0.43624	0.373000	0.20484	0.576000	0.29452	0.460000	0.39030	ATC		0.532	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		45	207	0	0	0	0.002222	0	45	207				
STAR	6770	broad.mit.edu	37	8	38005733	38005733	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr8:38005733C>T	ENST00000276449.4	-	3	737	c.291G>A	c.(289-291)aaG>aaA	p.K97K	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	97	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GACTCTCCTTCTTCCAGCCCT	0.557																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(289-291)aaG>aaA		steroidogenic acute regulatory protein							106.0	70.0	82.0					8																	38005733		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005733C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.291G>A	8.37:g.38005733C>T							p.K97K	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	737	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	97			START.		Q16396	Silent	SNP	ENST00000276449.4	37	c.291G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900516	0.17686	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	T	0.62636	0.2444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61098	-0.7131	4	.	.	.	-35.5742	11.1751	0.48595	0.0:0.8527:0.0:0.1473	.	.	.	.	K	76	.	.	R	-	2	0	STAR	38124890	0.958000	0.32768	1.000000	0.80357	0.878000	0.50629	0.472000	0.22116	1.427000	0.47276	0.491000	0.48974	AGA		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		9	33	0	0	0	0.006214	0	9	33				
MB21D1	115004	broad.mit.edu	37	6	74161389	74161389	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:74161389C>T	ENST00000370315.3	-	1	610	c.516G>A	c.(514-516)ttG>ttA	p.L172L	MB21D1_ENST00000370318.1_Silent_p.L172L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	172					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GGCTGAGCTTCAACTTCTCCA	0.667																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(514-516)ttG>ttA		Mab-21 domain containing 1							26.0	27.0	26.0					6																	74161389		2203	4299	6502	SO:0001819	synonymous_variant	115004							g.chr6:74161389C>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.516G>A	6.37:g.74161389C>T						MB21D1_ENST00000370318.1_Silent_p.L172L	p.L172L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			1	610	-			172					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.516G>A	CCDS4978.1																																																																																				0.667	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		5	26	0	0	0	0.001168	0	5	26				
KIF15	56992	broad.mit.edu	37	3	44839336	44839336	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:44839336G>A	ENST00000326047.4	+	10	1135	c.986G>A	c.(985-987)gGa>gAa	p.G329E	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	329	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GATTCCCTTGGAGGTAATGCC	0.403																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(985-987)gGa>gAa		kinesin family member 15							100.0	97.0	98.0					3																	44839336		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44839336G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.986G>A	3.37:g.44839336G>A	ENSP00000324020:p.Gly329Glu						p.G329E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	10	1135	+			329					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.986G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788122	0.90367	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.76448	-1.02;-1.02	5.37	5.37	0.77165	Kinesin, motor domain (4);	0.000000	0.50627	D	0.000107	D	0.91253	0.7243	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93106	0.6512	10	0.87932	D	0	.	19.1155	0.93336	0.0:0.0:1.0:0.0	.	329	Q9NS87	KIF15_HUMAN	E	329;101;328	ENSP00000324020:G329E;ENSP00000425499:G101E	ENSP00000324020:G329E	G	+	2	0	KIF15	44814340	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.476000	0.97823	2.519000	0.84933	0.462000	0.41574	GGA		0.403	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			27	74	0	0	0	0.005443	0	27	74				
VWA7	80737	broad.mit.edu	37	6	31741165	31741165	+	Silent	SNP	C	C	T	rs201850397	byFrequency	TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:31741165C>T	ENST00000375688.4	-	6	971	c.771G>A	c.(769-771)ccG>ccA	p.P257P	VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000375686.3_Silent_p.P257P|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	257						extracellular region (GO:0005576)											TGCCTCCCCTCGGTGGCTGGG	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0					ENST00000375686.3																			0											c.(769-771)ccG>ccA		von Willebrand factor A domain containing 7							57.0	56.0	56.0					6																	31741165		2203	4299	6502	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31741165C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.771G>A	6.37:g.31741165C>T						VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Silent_p.P257P	p.P257P	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			6	1008	-			257					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.771G>A	CCDS4721.2																																																																																				0.602	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		5	20	0	0	0	0.000602	0	5	20				
BFSP2	8419	broad.mit.edu	37	3	133185795	133185795	+	Missense_Mutation	SNP	C	C	T	rs200573601		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:133185795C>T	ENST00000302334.2	+	5	1104	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	339	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGAATCCTTACGTGCCCTGGT	0.517																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1015-1017)Cgt>Tgt		beaded filament structural protein 2, phakinin							65.0	63.0	64.0					3																	133185795		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133185795C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1015C>T	3.37:g.133185795C>T	ENSP00000304987:p.Arg339Cys					BFSP2_ENST00000511434.1_3'UTR	p.R339C	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			5	1104	+			339			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.1015C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010621	0.75046	.	.	ENSG00000170819	ENST00000302334	D	0.89875	-2.58	5.92	2.87	0.33458	Filament (1);	0.204715	0.33534	N	0.004801	D	0.94381	0.8193	M	0.88310	2.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.67382	0.951	D	0.94571	0.7771	10	0.56958	D	0.05	-18.2126	13.8519	0.63501	0.6735:0.3265:0.0:0.0	.	339	Q13515	BFSP2_HUMAN	C	339	ENSP00000304987:R339C	ENSP00000304987:R339C	R	+	1	0	BFSP2	134668485	0.998000	0.40836	0.703000	0.30354	0.983000	0.72400	2.255000	0.43222	0.826000	0.34661	0.561000	0.74099	CGT		0.517	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			16	54	0	0	0	0.004990	0	16	54				
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																						ENST00000368148.3																			6	Substitution - Missense(6)	p.A2011V(6)	lung(4)|urinary_tract(1)|prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V	p.A2011V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6212	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	487	0	0	0	0.004482	0	8	487				
MAP4K4	9448	broad.mit.edu	37	2	102450904	102450904	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:102450904G>C	ENST00000347699.4	+	8	673	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.E225Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGCCATTGAGATGGCAGA	0.408																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(673-675)Gag>Cag		mitogen-activated protein kinase kinase kinase kinase 4							159.0	144.0	149.0					2																	102450904		1884	4125	6009	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102450904G>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.673G>C	2.37:g.102450904G>C	ENSP00000314363:p.Glu225Gln					MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000302217.5_Intron	p.E225Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			8	728	+			225			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.673G>C	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479370	0.84747	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.70045	1.25;1.25;1.25;1.25;1.25;1.25;-0.45	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.983;0.997;0.993;0.983;0.971;0.996;0.996;0.943;0.993;0.993	D	0.86528	0.1820	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	205;225;225;205;225;225;225;225;225;225	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Q	225;225;225;225;225;187;205	ENSP00000392830:E225Q;ENSP00000313644:E225Q;ENSP00000281111:E225Q;ENSP00000389752:E225Q;ENSP00000314363:E225Q;ENSP00000409720:E187Q;ENSP00000343658:E205Q	ENSP00000313644:E225Q	E	+	1	0	MAP4K4	101817336	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	GAG		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	21	0	0	0	0.000248	0	4	21				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	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.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	50	0	0	0	0.000248	0	3	50				
TRIML1	339976	broad.mit.edu	37	4	189060832	189060832	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr4:189060832C>T	ENST00000332517.3	+	1	260	c.120C>T	c.(118-120)ctC>ctT	p.L40L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	40					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGTGTGTCTCCTCAGGAGCT	0.547																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(118-120)ctC>ctT		tripartite motif family-like 1							181.0	180.0	180.0					4																	189060832		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060832C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.120C>T	4.37:g.189060832C>T							p.L40L	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	260	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	40					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.120C>T	CCDS3851.1																																																																																				0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		67	234	0	0	0	0.003610	0	67	234				
GOPC	57120	broad.mit.edu	37	6	117900212	117900212	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:117900212G>A	ENST00000368498.2	-	2	376	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	GOPC_ENST00000052569.6_Silent_p.L101L|GOPC_ENST00000535237.1_Silent_p.L101L	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	101					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCAGATTTCAGATCCACCAAC	0.348			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(301-303)Ctg>Ttg		golgi-associated PDZ and coiled-coil motif containing							85.0	80.0	82.0					6																	117900212		2203	4299	6502	SO:0001819	synonymous_variant	57120							g.chr6:117900212G>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.301C>T	6.37:g.117900212G>A						GOPC_ENST00000368498.2_Silent_p.L101L|GOPC_ENST00000052569.6_Silent_p.L101L	p.L101L						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	2	530	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.301C>T	CCDS5117.1																																																																																				0.348	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		13	41	0	0	0	0.001855	0	13	41				
LINC00969	440993	broad.mit.edu	37	3	195400822	195400822	+	lincRNA	SNP	G	G	A	rs56170658		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418									long intergenic non-protein coding RNA 969																		GTCTGGTCAGGCATGTGCCCT	0.572																																						ENST00000445430.1																			0																																																			0							g.chr3:195400822G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400822G>A														0	1418	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	55	0	0	0	0.000248	0	4	55				
NUBP1	4682	broad.mit.edu	37	16	10855244	10855244	+	Silent	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:10855244G>C	ENST00000283027.5	+	8	649	c.630G>C	c.(628-630)cgG>cgC	p.R210R	TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGGATGTCCGGAAAGAAATCA	0.537																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(628-630)cgG>cgC		nucleotide binding protein 1							108.0	94.0	99.0					16																	10855244		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855244G>C	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.630G>C	16.37:g.10855244G>C						TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R	p.R210R	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			8	649	+			210						Silent	SNP	ENST00000283027.5	37	c.630G>C	CCDS10543.1																																																																																				0.537	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		19	47	0	0	0	0.007413	0	19	47				
NIPAL3	57185	broad.mit.edu	37	1	24785395	24785395	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:24785395C>T	ENST00000374399.4	+	9	1159	c.791C>T	c.(790-792)tCa>tTa	p.S264L	NIPAL3_ENST00000003912.3_Missense_Mutation_p.S182L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	264						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGCCTCACAGATGTAC	0.468																																						ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(544-546)tCa>tTa		NIPA-like domain containing 3							216.0	177.0	190.0					1																	24785395		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24785395C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.791C>T	1.37:g.24785395C>T	ENSP00000363520:p.Ser264Leu					NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L|NIPAL3_ENST00000374399.4_Missense_Mutation_p.S264L	p.S182L			Q6P499	NPAL3_HUMAN			10	1260	+			264					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.545C>T	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438032|1.438032	0.25900|0.25900	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.86694	.|-2.16;-2.16;-2.16	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.179348	.|0.52532	.|N	.|0.000080	T|T	0.73760|0.73760	0.3628|0.3628	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34103	.|0.193;0.437	.|B;B	.|0.34452	.|0.089;0.183	T|T	0.73817|0.73817	-0.3863|-0.3863	5|10	.|0.02654	.|T	.|1	-15.9078|-15.9078	19.1524|19.1524	0.93495|0.93495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264;264	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	Y|L	76|264;182;264	.|ENSP00000363520:S264L;ENSP00000003912:S182L;ENSP00000343549:S264L	.|ENSP00000003912:S182L	H|S	+|+	1|2	0|0	NIPAL3|NIPAL3	24657982|24657982	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.434000|3.434000	0.52841|0.52841	2.775000|2.775000	0.95449|0.95449	0.563000|0.563000	0.77884|0.77884	CAC|TCA		0.468	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		17	58	0	0	0	0.004990	0	17	58				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			6	5						6	5	---	---	---	---
NIFK-AS1	254128	broad.mit.edu	37	2	122415991	122415992	+	RNA	INS	-	-	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:122415991_122415992insT	ENST00000419902.1	+	0	497					NR_037857.1																						caaactaTTTCTTTTTTTTCCA	0.342																																						ENST00000419902.1																			0																																																			0							g.chr2:122415991_122415992insT																													2.37:g.122415999_122415999dupT								NR_037857.1						0	497	+									RNA	INS	ENST00000419902.1	37																																																																																						0.342	AC018737.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000330755.2			2	4						2	4	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			3	2						3	2	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	3						3	3	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51478657	51478657	+	IGR	DEL	T	T	-	rs71185783	byFrequency	TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr19:51478657delT	ENST00000391807.1	-	0	1927				CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7						epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		gaggggctggtggggggggtt	0.687																																						ENST00000594512.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:51478657delT	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862			19.37:g.51478657delT														0	297	+								A8K0U5|Q8N5N9|Q8NFV7	RNA	DEL	ENST00000391807.1	37		CCDS12812.1																																																																																				0.687	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		3	4						3	4	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	8						6	8	---	---	---	---
