#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
TSC2	7249	broad.mit.edu	37	16	2126130	2126130	+	Missense_Mutation	SNP	C	C	T	rs397515098		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2126130C>T	ENST00000219476.3	+	24	3331	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TSC2_ENST00000350773.4_Missense_Mutation_p.R901C|TSC2_ENST00000568454.1_Missense_Mutation_p.R912C|TSC2_ENST00000439673.2_Missense_Mutation_p.R864C|TSC2_ENST00000382538.6_Missense_Mutation_p.R852C|TSC2_ENST00000401874.2_Missense_Mutation_p.R901C|TSC2_ENST00000353929.4_Missense_Mutation_p.R901C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	901					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCAGGTGCCGCCTGCCCTT	0.567			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2701-2703)Cgc>Tgc		tuberous sclerosis 2							126.0	101.0	110.0					16																	2126130		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2126130C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2701C>T	16.37:g.2126130C>T	ENSP00000219476:p.Arg901Cys					TSC2_ENST00000401874.2_Missense_Mutation_p.R901C|TSC2_ENST00000353929.4_Missense_Mutation_p.R901C|TSC2_ENST00000350773.4_Missense_Mutation_p.R901C|TSC2_ENST00000568454.1_Missense_Mutation_p.R912C|TSC2_ENST00000439673.2_Missense_Mutation_p.R864C|TSC2_ENST00000382538.6_Missense_Mutation_p.R852C	p.R901C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			24	3331	+		Hepatocellular(780;0.0202)	901					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2701C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991222	0.74703	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.09	5.09	0.68999	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.996;0.999;0.999;0.997	D	0.94188	0.7438	10	0.87932	D	0	-29.9173	13.4793	0.61326	0.1563:0.8437:0.0:0.0	.	852;864;901;901;901;901	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	C	901;901;901;864;852;901	ENSP00000219476:R901C;ENSP00000384468:R901C;ENSP00000248099:R901C;ENSP00000399232:R864C;ENSP00000371978:R852C;ENSP00000344383:R901C	ENSP00000219476:R901C	R	+	1	0	TSC2	2066131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.983000	0.49345	2.367000	0.80283	0.561000	0.74099	CGC		0.567	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		34	58	0	0	0	0.840704	0	34	58				
UNC45B	146862	broad.mit.edu	37	17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	472					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCTACAAGACCACCAAAAAT	0.567																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1414-1416)aCc>aAc		unc-45 homolog B (C. elegans)							108.0	87.0	94.0					17																	33495343		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495343C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1415C>A	17.37:g.33495343C>A	ENSP00000268876:p.Thr472Asn					UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N	p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1512	+		Ovarian(249;0.17)	472					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1415C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312794	0.40895	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.64438	1.03;3.69;1.03;-0.1	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.046141	0.85682	D	0.000000	T	0.37265	0.0997	N	0.03608	-0.345	0.23743	N	0.996966	B;B;B	0.22080	0.064;0.056;0.001	B;B;B	0.28305	0.088;0.066;0.009	T	0.17930	-1.0353	10	0.15952	T	0.53	-37.4787	11.3634	0.49657	0.2766:0.7234:0.0:0.0	.	472;472;472	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	472	ENSP00000378071:T472N;ENSP00000268876:T472N;ENSP00000412840:T472N;ENSP00000367710:T472N	ENSP00000268876:T472N	T	+	2	0	UNC45B	30519456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.471000	0.66762	2.767000	0.95098	0.655000	0.94253	ACC		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		5	68	1	0	0.00116845	0.217242	0.00131867	5	68				
SULT1A1	6817	broad.mit.edu	37	16	28631396	28631396	+	5'UTR	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28631396C>T	ENST00000395609.1	-	0	481				SULT1A1_ENST00000350842.4_Nonsense_Mutation_p.W42*			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TATAGGTGTTCCAGAATTTCT	0.328																																						ENST00000350842.4																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(124-126)tgG>tgA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							107.0	104.0	105.0					16																	28631396		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631396C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-278G>A	16.37:g.28631396C>T						SULT1A1_ENST00000395609.1_5'UTR	p.W42*	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN			2	514	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Nonsense_Mutation	SNP	ENST00000395609.1	37	c.126G>A	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.030445	0.54790	.	.	ENSG00000196502	ENST00000350842	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.4053	0.16318	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000329399:W42X	W	-	3	0	SULT1A1	28538897	1.000000	0.71417	0.937000	0.37676	0.418000	0.31294	1.341000	0.33907	0.511000	0.28236	0.089000	0.15464	TGG		0.328	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		4	48	0	0	0	0.217242	0	4	48				
NGEF	25791	broad.mit.edu	37	2	233785159	233785159	+	Silent	SNP	C	C	T	rs533719625	byFrequency	TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:233785159C>T	ENST00000264051.3	-	5	941	c.663G>A	c.(661-663)gaG>gaA	p.E221E	NGEF_ENST00000373552.4_Silent_p.E129E|NGEF_ENST00000409079.1_Silent_p.E129E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	221	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E221E(3)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		cctcctcctcctcttcttctt	0.572																																						ENST00000264051.3																			3	Substitution - coding silent(3)	p.E221E(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(661-663)gaG>gaA		neuronal guanine nucleotide exchange factor							68.0	72.0	71.0					2																	233785159		2203	4300	6503	SO:0001819	synonymous_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785159C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.663G>A	2.37:g.233785159C>T						NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E	p.E221E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	941	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	221			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	c.663G>A	CCDS2500.1																																																																																				0.572	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		3	54	0	0	0	0.115264	0	3	54				
PRRC2C	23215	broad.mit.edu	37	1	171560757	171560757	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:171560757C>T	ENST00000338920.4	+	34	8462	c.8225C>T	c.(8224-8226)aCg>aTg	p.T2742M	PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2823M|PRRC2C_ENST00000367742.3_Missense_Mutation_p.T2744M|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2677M	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2821					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTTCAGTCCACGCAACGGTTC	0.438																																						ENST00000367742.3																			0											c.(8230-8232)aCg>aTg		proline-rich coiled-coil 2C							82.0	78.0	79.0					1																	171560757		1929	4141	6070	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171560757C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8225C>T	1.37:g.171560757C>T	ENSP00000343629:p.Thr2742Met					PRRC2C_ENST00000338920.4_Missense_Mutation_p.T2742M|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2677M|PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2823M	p.T2744M			Q9Y520	PRC2C_HUMAN			34	8473	+			330					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.8231C>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278691|3.278691	0.59758|0.59758	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.03468	.|3.92;4.11;4.09;4.09	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.19112|0.19112	0.55|0.55	0.44254|0.44254	D|D	0.997104|0.997104	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.49799|0.49799	-0.8901|-0.8901	5|9	.|0.72032	.|D	.|0.01	.|.	20.3495|20.3495	0.98807|0.98807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2677;2742	.|B7WNZ6;Q9Y520-4	.|.;.	C|M	1225|2823;2775;2677;2744;2742;2578	.|ENSP00000375928:T2823M;ENSP00000410219:T2677M;ENSP00000356716:T2744M;ENSP00000343629:T2742M	.|ENSP00000343629:T2742M	R|T	+|+	1|2	0|0	PRRC2C|PRRC2C	169827380|169827380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.188000|7.188000	0.77739|0.77739	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	CGC|ACG		0.438	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		21	34	0	0	0	0.608945	0	21	34				
SLC16A7	9194	broad.mit.edu	37	12	60168467	60168467	+	Missense_Mutation	SNP	G	G	A	rs543596862		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:60168467G>A	ENST00000261187.4	+	4	555	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	SLC16A7_ENST00000547379.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A32T|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000552024.1_Missense_Mutation_p.A131T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	131					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCTGCAACCCGCCTTAACCAT	0.413																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(391-393)Gcc>Acc		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						79.0	72.0	75.0					12																	60168467		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168467G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.391G>A	12.37:g.60168467G>A	ENSP00000261187:p.Ala131Thr					SLC16A7_ENST00000552432.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000552024.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A32T|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A131T	p.A131T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	555	+			131					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.391G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846192	0.91277	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051043	0.85682	D	0.000000	T	0.43344	0.1243	L	0.51422	1.61	0.80722	D	1	P	0.40534	0.72	P	0.47118	0.538	T	0.07635	-1.0762	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	131	O60669	MOT2_HUMAN	T	131;131;131;131;131;32;16	ENSP00000449547:A131T;ENSP00000448071:A131T;ENSP00000448742:A131T;ENSP00000446722:A131T;ENSP00000261187:A131T;ENSP00000443731:A32T;ENSP00000447814:A16T	.	A	+	1	0	SLC16A7	58454734	1.000000	0.71417	0.967000	0.41034	0.926000	0.56050	6.528000	0.73807	2.880000	0.98712	0.650000	0.86243	GCC		0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		8	56	0	0	0	0.361761	0	8	56				
VGLL3	389136	broad.mit.edu	37	3	87018023	87018023	+	Silent	SNP	G	G	A	rs368628256		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:87018023G>A	ENST00000398399.2	-	3	1017	c.654C>T	c.(652-654)tcC>tcT	p.S218S	VGLL3_ENST00000383698.3_Silent_p.S218S	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TATGGCTGTAGGATGGGCTCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.001		0.0	False		,,,				2504	0.0					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(652-654)tcC>tcT		vestigial like 3 (Drosophila)							86.0	90.0	88.0					3																	87018023		2166	4274	6440	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018023G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.654C>T	3.37:g.87018023G>A						VGLL3_ENST00000383698.3_Silent_p.S218S	p.S218S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1017	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	218						Silent	SNP	ENST00000398399.2	37	c.654C>T	CCDS43110.1																																																																																				0.607	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		34	95	0	0	0	0.840704	0	34	95				
P4HA3	283208	broad.mit.edu	37	11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:74015374C>A	ENST00000331597.4	-	2	329	c.284G>T	c.(283-285)cGc>cTc	p.R95L	P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	95						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGACTGCAGGCGTTTGATGAG	0.478																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(283-285)cGc>cTc		prolyl 4-hydroxylase, alpha polypeptide III							173.0	173.0	173.0					11																	74015374		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74015374C>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.284G>T	11.37:g.74015374C>A	ENSP00000332170:p.Arg95Leu					P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			2	329	-	Breast(11;2.31e-05)		95					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.284G>T	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142749	0.57044	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.73789	-0.51;-0.78	5.79	4.87	0.63330	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.86740	2.835	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89765	0.3950	10	0.87932	D	0	-10.5484	14.6605	0.68868	0.0:0.8536:0.1464:0.0	.	95;95	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	L	95	ENSP00000332170:R95L;ENSP00000401749:R95L	ENSP00000332170:R95L	R	-	2	0	P4HA3	73693022	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.830000	0.75319	1.415000	0.47037	-0.176000	0.13171	CGC		0.478	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		7	196	1	0	3.09899e-07	0.307466	3.70939e-07	7	196				
TBC1D19	55296	broad.mit.edu	37	4	26750104	26750104	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:26750104T>C	ENST00000264866.4	+	19	1669	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.L399S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	464	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCTTGCTTTTATGGGATAGA	0.358																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1390-1392)tTa>tCa		TBC1 domain family, member 19							141.0	142.0	142.0					4																	26750104		2203	4300	6503	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26750104T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1391T>C	4.37:g.26750104T>C	ENSP00000264866:p.Leu464Ser					TBC1D19_ENST00000511789.1_Missense_Mutation_p.L399S	p.L464S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			19	1669	+		Breast(46;0.0503)	464			Rab-GAP TBC.		B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.1391T>C	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.521879	0.85600	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.35048	1.33;1.33	5.83	5.83	0.93111	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.995;0.995	T	0.70121	-0.4959	10	0.87932	D	0	-8.9731	16.1894	0.81975	0.0:0.0:0.0:1.0	.	399;464;464	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	S	464;399	ENSP00000264866:L464S;ENSP00000425569:L399S	ENSP00000264866:L464S	L	+	2	0	TBC1D19	26359202	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.499000	0.81566	2.222000	0.72286	0.477000	0.44152	TTA		0.358	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		3	122	0	0	0	0.184627	0	3	122				
AMDHD2	51005	broad.mit.edu	37	16	2579489	2579489	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2579489C>T	ENST00000293971.6	+	11	1249	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_Silent_p.L415L|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L415L	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1243-1245)ctC>ctT		amidohydrolase domain containing 2							129.0	103.0	112.0					16																	2579489		2198	4300	6498	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2579489C>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1155C>T	16.37:g.2579489C>T						AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L415L|CEMP1_ENST00000382350.1_Intron	p.L415L			Q9Y303	NAGA_HUMAN			10	1339	+			385					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.1245C>T																																																																																					0.657	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		59	122	0	0	0	0.870114	0	59	122				
MCMBP	79892	broad.mit.edu	37	10	121598206	121598206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:121598206G>A	ENST00000360003.3	-	12	1424	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	MCMBP_ENST00000369077.3_Missense_Mutation_p.R417C|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	419					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATCTGCAGACGAAAAGACTGC	0.378																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1255-1257)Cgt>Tgt		minichromosome maintenance complex binding protein							51.0	52.0	52.0					10																	121598206		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121598206G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1255C>T	10.37:g.121598206G>A	ENSP00000353098:p.Arg419Cys					MCMBP_ENST00000369077.3_Missense_Mutation_p.R417C|MCMBP_ENST00000466047.1_5'UTR	p.R419C	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			12	1424	-			419					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1255C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837067	0.71373	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.52	4.56	0.56223	.	0.308948	0.36932	N	0.002335	T	0.48295	0.1492	L	0.36672	1.1	0.41655	D	0.989155	D	0.71674	0.998	P	0.51229	0.663	T	0.42378	-0.9455	9	0.40728	T	0.16	-7.7909	8.6855	0.34234	0.0753:0.0:0.7727:0.152	.	419	Q9BTE3	MCMBP_HUMAN	C	419;417	.	ENSP00000353098:R419C	R	-	1	0	MCMBP	121588196	1.000000	0.71417	0.621000	0.29145	0.993000	0.82548	5.495000	0.66912	2.586000	0.87340	0.655000	0.94253	CGT		0.378	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		3	43	0	0	0	0.150653	0	3	43				
PHF8	23133	broad.mit.edu	37	X	54029074	54029074	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:54029074A>C	ENST00000357988.5	-	9	1454	c.1096T>G	c.(1096-1098)Ttt>Gtt	p.F366V	PHF8_ENST00000322659.8_Missense_Mutation_p.F330V|PHF8_ENST00000338154.6_Missense_Mutation_p.F330V|PHF8_ENST00000338946.6_Missense_Mutation_p.F330V	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	366	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCCCTCCAAAGGCAAGGCAG	0.488																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(988-990)Ttt>Gtt		PHD finger protein 8							153.0	102.0	119.0					X																	54029074		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54029074A>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1096T>G	X.37:g.54029074A>C	ENSP00000350676:p.Phe366Val					PHF8_ENST00000357988.5_Missense_Mutation_p.F366V|PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V	p.F330V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			9	1492	-			366			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.988T>G	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.685487|4.685487	0.88639|0.88639	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69663|0.69663	0.3136|0.3136	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.67145|.	0.681;0.996;0.995;0.856|.	P;D;D;P|.	0.72075|.	0.614;0.976;0.96;0.694|.	T|T	0.68561|0.68561	-0.5376|-0.5376	10|5	0.54805|.	T|.	0.06|.	-12.4409|-12.4409	14.0193|14.0193	0.64543|0.64543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	330;330;366;366|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	V|R	366;330;330;360;330|93	ENSP00000350676:F366V;ENSP00000338868:F330V;ENSP00000340051:F330V;ENSP00000319473:F330V|.	ENSP00000319473:F330V|.	F|L	-|-	1|2	0|0	PHF8|PHF8	54045799|54045799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.976000|8.976000	0.93442|0.93442	1.956000|1.956000	0.56807|0.56807	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.488	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		3	26	0	0	0	0.184627	0	3	26				
HSPA8	3312	broad.mit.edu	37	11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:122928986T>C	ENST00000532636.1	-	8	1848	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000534624.1_Missense_Mutation_p.I577V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000453788.2_Intron|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	577					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTTGATAATTTCATTACAC	0.393																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1729-1731)Att>Gtt		heat shock 70kDa protein 8							95.0	100.0	98.0					11																	122928986		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928986T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1729A>G	11.37:g.122928986T>C	ENSP00000437125:p.Ile577Val					HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V	p.I577V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	2005	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	577					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1729A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	4.152	0.026677	0.08054	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.79	4.79	0.61399	.	0.082207	0.56097	D	0.000026	T	0.04092	0.0114	N	0.01771	-0.73	0.43678	D	0.996114	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.27434	-1.0074	10	0.02654	T	1	-18.3607	9.2189	0.37364	0.0:0.0819:0.0:0.9181	.	577;577	Q53GZ6;P11142	.;HSP7C_HUMAN	V	577;431;577;577;341;558;168;129	ENSP00000437125:I577V;ENSP00000437189:I431V;ENSP00000432083:I577V;ENSP00000227378:I577V;ENSP00000433316:I341V;ENSP00000433584:I558V;ENSP00000435908:I168V;ENSP00000435019:I129V	ENSP00000227378:I577V	I	-	1	0	HSPA8	122434196	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.768000	0.47645	1.923000	0.55706	0.459000	0.35465	ATT		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			24	50	0	0	0	0.681144	0	24	50				
NPVF	64111	broad.mit.edu	37	7	25264785	25264785	+	Silent	SNP	G	G	A	rs572195157		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:25264785G>A	ENST00000222674.2	-	3	593	c.547C>T	c.(547-549)Cta>Tta	p.L183L		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	183					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTCTTGAATAGCAGTCTCCTA	0.378																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(547-549)Cta>Tta		neuropeptide VF precursor							184.0	175.0	178.0					7																	25264785		2203	4300	6503	SO:0001819	synonymous_variant	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25264785G>A	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.547C>T	7.37:g.25264785G>A							p.L183L	NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN			3	593	-			183					A4D164|Q7LE27|Q96PI9	Silent	SNP	ENST00000222674.2	37	c.547C>T	CCDS5395.1																																																																																				0.378	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		14	46	0	0	0	0.520397	0	14	46				
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		101	Substitution - Missense(101)	p.Q546K(89)|p.Q546E(12)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)Cag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936094C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1793	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1636C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	62	1	0	0.0215528	0.217242	0.0233242	4	62				
CPPED1	55313	broad.mit.edu	37	16	12798662	12798662	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798662C>A	ENST00000381774.4	-	3	774	c.534G>T	c.(532-534)aaG>aaT	p.K178N	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	178	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGAGCCTGCTTCAGGCTGG	0.612																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(532-534)aaG>aaT		calcineurin-like phosphoesterase domain containing 1							58.0	62.0	61.0					16																	12798662		2056	4210	6266	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798662C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.534G>T	16.37:g.12798662C>A	ENSP00000371193:p.Lys178Asn					CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.K178N	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	774	-			178					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.534G>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385126	0.42308	.	.	ENSG00000103381	ENST00000381774	T	0.69306	-0.39	5.32	3.16	0.36331	Metallophosphoesterase domain (1);	0.181806	0.56097	D	0.000021	T	0.73885	0.3644	M	0.83953	2.67	0.80722	D	1	P	0.50819	0.939	P	0.58620	0.842	T	0.71241	-0.4651	10	0.22109	T	0.4	-28.1016	4.7944	0.13265	0.0:0.6261:0.0:0.3739	.	178	Q9BRF8	CPPED_HUMAN	N	178	ENSP00000371193:K178N	ENSP00000371193:K178N	K	-	3	2	CPPED1	12706163	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.343000	0.44001	1.249000	0.43950	-0.142000	0.14014	AAG		0.612	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		20	55	1	0	1.50039e-11	0.608945	1.85204e-11	20	55				
GRM5	2915	broad.mit.edu	37	11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:88780467C>A	ENST00000305447.4	-	1	723	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000418177.2_Missense_Mutation_p.V192L|GRM5_ENST00000455756.2_Missense_Mutation_p.V192L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	192					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGAAGGCACAACCCTCATG	0.463																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(574-576)Gtg>Ttg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						93.0	80.0	85.0					11																	88780467		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780467C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.574G>T	11.37:g.88780467C>A	ENSP00000306138:p.Val192Leu					GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L	p.V192L			P41594	GRM5_HUMAN			2	941	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	192					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.574G>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649607|4.649607	0.87958|0.87958	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.83250	.|-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92414|0.92414	0.7592|0.7592	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.998;0.998	.|D;D;D	.|0.77004	.|0.93;0.986;0.989	D|D	0.92856|0.92856	0.6301|0.6301	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|192;192;192	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	F|L	24|192	.|ENSP00000402912:V192L;ENSP00000405690:V192L;ENSP00000305905:V192L;ENSP00000306138:V192L;ENSP00000376975:V192L;ENSP00000376972:V192L	.|.	L|V	-|-	3|1	2|0	GRM5|GRM5	88420115|88420115	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.975000|0.975000	0.68041|0.68041	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	TTG|GTG		0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		12	93	1	0	4.3838e-07	0.435327	5.16896e-07	12	93				
PCDHA11	56138	broad.mit.edu	37	5	140250251	140250251	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1561-1563)ccG>ccA									61.0	68.0	65.0					5																	140250251		2196	4281	6477	SO:0001819	synonymous_variant	0							g.chr5:140250251G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1563G>A	5.37:g.140250251G>A						PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	p.P521P	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1563	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1563G>A	CCDS47284.1																																																																																				0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		18	169	0	0	0	0.608945	0	18	169				
C3orf62	375341	broad.mit.edu	37	3	49313859	49313859	+	Splice_Site	SNP	C	C	A	rs368106088		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:49313859C>A	ENST00000343010.3	-	1	1483		c.e1+1		MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62											breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTAGAATCACCTTAAATTTT	0.383																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.e1+1		chromosome 3 open reading frame 62		C		1,4405	2.1+/-5.4	0,1,2202	83.0	79.0	81.0			4.8	1.0	3		81	0,8600		0,0,4300	no	splice-5	C3orf62	NM_198562.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077			49313859	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	375341							g.chr3:49313859C>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.446+1G>T	3.37:g.49313859C>A								NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1483	-								Q6P7E9|Q7Z3X6	Splice_Site	SNP	ENST00000343010.3	37		CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428154	0.62844	2.27E-4	0.0	ENSG00000188315	ENST00000343010;ENST00000436325	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2104	0.59821	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3orf62	49288863	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.939000	0.56591	2.490000	0.84030	0.650000	0.86243	.		0.383	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562	Intron	5	64	1	0	0.014758	0.184627	0.0161928	5	64				
CPPED1	55313	broad.mit.edu	37	16	12798661	12798661	+	Nonsense_Mutation	SNP	G	G	A	rs202146873		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798661G>A	ENST00000381774.4	-	3	775	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	179	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCCTGAGCCTGCTTCAGGCTG	0.612																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(535-537)Cag>Tag		calcineurin-like phosphoesterase domain containing 1		G	,stop/GLN	1,4113		0,1,2056	58.0	62.0	61.0		,535	4.3	1.0	16		61	1,8419		0,1,4209	yes	intron,stop-gained	CPPED1	NM_001099455.1,NM_018340.2	,	0,2,6265	AA,AG,GG		0.0119,0.0243,0.016	,	,179/315	12798661	2,12532	2057	4210	6267	SO:0001587	stop_gained	55313						hydrolase activity|metal ion binding	g.chr16:12798661G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.535C>T	16.37:g.12798661G>A	ENSP00000371193:p.Gln179*					CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.Q179*	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	775	-			179					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Nonsense_Mutation	SNP	ENST00000381774.4	37	c.535C>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147224	0.94603	2.43E-4	1.19E-4	ENSG00000103381	ENST00000381774	.	.	.	5.32	4.35	0.52113	.	0.280889	0.39834	N	0.001253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-13.9025	12.3926	0.55366	0.0:0.3256:0.6744:0.0	.	.	.	.	X	179	.	ENSP00000371193:Q179X	Q	-	1	0	CPPED1	12706162	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.042000	0.49815	1.218000	0.43458	0.650000	0.86243	CAG		0.612	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		21	55	0	0	0	0.624587	0	21	55				
SHROOM3	57619	broad.mit.edu	37	4	77476913	77476913	+	Missense_Mutation	SNP	G	G	A	rs149028713		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:77476913G>A	ENST00000296043.6	+	2	1273	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	107	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTGGTAGTGCGCAGGTAGGTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16585	0.001		0.0	False		,,,				2504	0.0					ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(319-321)cGc>cAc		shroom family member 3		G	HIS/ARG	0,4406		0,0,2203	97.0	83.0	87.0		320	4.4	1.0	4	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHROOM3	NM_020859.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	107/1997	77476913	2,13004	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476913G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.320G>A	4.37:g.77476913G>A	ENSP00000296043:p.Arg107His						p.R107H	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1273	+			107			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.320G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393602	0.42410	0.0	2.33E-4	ENSG00000138771	ENST00000296043	T	0.24538	1.85	4.44	4.44	0.53790	PDZ/DHR/GLGF (3);	0.662303	0.12377	N	0.474244	T	0.59224	0.2178	M	0.88704	2.975	0.29204	N	0.875015	D	0.89917	1.0	D	0.79784	0.993	T	0.58498	-0.7626	10	0.72032	D	0.01	-5.2315	16.1327	0.81454	0.0:0.0:1.0:0.0	.	107	Q8TF72	SHRM3_HUMAN	H	107	ENSP00000296043:R107H	ENSP00000296043:R107H	R	+	2	0	SHROOM3	77695937	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.974000	0.63771	2.398000	0.81561	0.467000	0.42956	CGC		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	40	0	0	0	0.150653	0	4	40				
TCEB3B	51224	broad.mit.edu	37	18	44561616	44561616	+	Missense_Mutation	SNP	G	G	T	rs572647337		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr18:44561616G>T	ENST00000332567.4	-	1	372	c.20C>A	c.(19-21)aCg>aAg	p.T7K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	7	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCGTGCAGCGTAGTGGACCC	0.612																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(19-21)aCg>aAg		transcription elongation factor B polypeptide 3B (elongin A2)							49.0	48.0	48.0					18																	44561616		2202	4300	6502	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561616G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.20C>A	18.37:g.44561616G>T	ENSP00000331302:p.Thr7Lys					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.T7K	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	372	-			7			TFIIS N-terminal.		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.20C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277261	0.40294	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.35	-2.81	0.05805	Transcription factor IIS, N-terminal (3);	0.527792	0.13064	U	0.416631	T	0.07188	0.0182	N	0.22421	0.69	0.09310	N	1	D	0.59357	0.985	P	0.57679	0.825	T	0.11446	-1.0587	10	0.06625	T	0.88	-1.1467	4.6872	0.12764	0.5595:0.2127:0.2278:0.0	.	7	Q8IYF1	ELOA2_HUMAN	K	7	ENSP00000331302:T7K	ENSP00000331302:T7K	T	-	2	0	TCEB3B	42815614	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.328000	0.19681	-0.769000	0.04620	0.558000	0.71614	ACG		0.612	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	60	1	0	0.00116845	0.217242	0.00131867	5	60				
CHL1	10752	broad.mit.edu	37	3	432831	432831	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:432831C>T	ENST00000256509.2	+	22	3422	c.2780C>T	c.(2779-2781)aCa>aTa	p.T927I	CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTCAAACACCAGAAGGA	0.408																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2779-2781)aCa>aTa		cell adhesion molecule L1-like							69.0	73.0	71.0					3																	432831		2201	4298	6499	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432831C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2780C>T	3.37:g.432831C>T	ENSP00000256509:p.Thr927Ile					CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	p.T927I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	22	3422	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	911			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2780C>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755880|4.755880	0.89843|0.89843	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.64803	.|-0.12;-0.12	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84092|0.84092	0.5396|0.5396	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.997	.|D;D;D	.|0.83275	.|0.996;0.996;0.983	D|D	0.86599|0.86599	0.1865|0.1865	5|10	.|0.87932	.|D	.|0	.|.	19.9244|19.9244	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|911;911;927	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	Y|I	114|927;911	.|ENSP00000256509:T927I;ENSP00000380628:T911I	.|ENSP00000256509:T927I	H|T	+|+	1|2	0|0	CHL1|CHL1	407831|407831	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.955000|0.955000	0.61496|0.61496	7.087000|7.087000	0.76893|0.76893	2.712000|2.712000	0.92718|0.92718	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	60	0	0	0	0.307466	0	7	60				
TYW1B	441250	broad.mit.edu	37	7	72081822	72081822	+	RNA	SNP	G	G	A	rs368018822		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:72081822G>A	ENST00000435769.2	-	0	1743				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGTAGGTAACGCCCTGTGGAA	0.502																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)		G	,	0,1384		0,0,692	158.0	121.0	132.0		1621,1135	2.2	1.0	7		132	1,3181		0,1,1590	no	coding-synonymous,coding-notMod3	TYW1B	NM_001145440.1,NM_001145441.1	,	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	,	540/669,	72081822	1,4565	692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081822G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081822G>A										Q6NUM6	TYW1B_HUMAN			0	1233	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.502	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		25	55	0	0	0	0.681144	0	25	55				
DMBT1	1755	broad.mit.edu	37	10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:124392786C>A	ENST00000338354.3	+	49	6196	c.6090C>A	c.(6088-6090)aaC>aaA	p.N2030K	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2030	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATCCAAACAATGCCAAGT	0.498																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6088-6090)aaC>aaA		deleted in malignant brain tumors 1							150.0	146.0	147.0					10																	124392786		1957	4154	6111	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392786C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6090C>A	10.37:g.124392786C>A	ENSP00000342210:p.Asn2030Lys					DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K	p.N2030K			Q9UGM3	DMBT1_HUMAN			49	6196	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2030			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6090C>A		.	.	.	.	.	.	.	.	.	.	C	15.47	2.841916	0.51057	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.28	2.35	0.29111	CUB (5);	1.310530	0.05553	U	0.567956	T	0.38639	0.1048	M	0.68728	2.09	0.33186	D	0.550168	P;B;B;B;B;P;P	0.52316	0.952;0.082;0.379;0.313;0.379;0.552;0.606	P;B;B;B;B;B;B	0.51582	0.674;0.058;0.091;0.219;0.091;0.255;0.372	T	0.45469	-0.9259	10	0.11182	T	0.66	.	5.179	0.15150	0.1679:0.6495:0.0:0.1826	.	750;2010;1279;2159;1402;2020;2030	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	2030;2159;2030;2030;2030;2029;1402;2020;1402;1402;2030;2020;1402;176;750	ENSP00000342210:N2030K;ENSP00000343175:N2020K;ENSP00000327747:N1402K;ENSP00000357905:N2030K;ENSP00000357951:N2020K;ENSP00000357952:N1402K;ENSP00000352593:N750K	ENSP00000331522:N1402K	N	+	3	2	DMBT1	124382776	0.951000	0.32395	0.958000	0.39756	0.529000	0.34654	0.825000	0.27393	0.577000	0.29470	-0.311000	0.09066	AAC		0.498	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	113	1	0	0.000157383	0.278610	0.000182842	6	113				
NCAN	1463	broad.mit.edu	37	19	19337625	19337625	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:19337625C>T	ENST00000252575.6	+	7	1502	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	468					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGTTCACACACGGAGGTGGCC	0.642																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1402-1404)aCg>aTg		neurocan							32.0	32.0	32.0					19																	19337625		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337625C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1403C>T	19.37:g.19337625C>T	ENSP00000252575:p.Thr468Met						p.T468M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1446	+			468					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1403C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598606	0.28445	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.87334	-2.24	4.38	-0.438	0.12268	.	0.822875	0.10265	N	0.695438	T	0.80105	0.4562	N	0.24115	0.695	0.09310	N	1	D;P	0.54601	0.967;0.458	P;B	0.50192	0.634;0.025	T	0.68988	-0.5264	10	0.42905	T	0.14	.	4.104	0.10028	0.0:0.5245:0.173:0.3025	.	482;468	Q4LE67;O14594	.;NCAN_HUMAN	M	482;468	ENSP00000252575:T468M	ENSP00000252575:T468M	T	+	2	0	NCAN	19198625	0.102000	0.21896	0.001000	0.08648	0.006000	0.05464	0.709000	0.25734	-0.123000	0.11745	-0.339000	0.08088	ACG		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		10	30	0	0	0	0.387290	0	10	30				
IQCB1	9657	broad.mit.edu	37	3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:121500652G>C	ENST00000310864.6	-	13	1562	c.1348C>G	c.(1348-1350)Ctc>Gtc	p.L450V	IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	450					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCATCAGTGAGTTCTTGGAGT	0.403																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1348-1350)Ctc>Gtc		IQ motif containing B1							155.0	145.0	148.0					3																	121500652		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121500652G>C	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1348C>G	3.37:g.121500652G>C	ENSP00000311505:p.Leu450Val					IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	p.L450V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	13	1562	-			450					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1348C>G	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577730	0.45902	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79247	-1.25;-1.25	4.61	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.66939	2.045	0.44780	D	0.997786	P;D	0.63880	0.956;0.993	D;P	0.65010	0.931;0.826	T	0.83277	-0.0040	10	0.54805	T	0.06	-1.1316	8.9681	0.35890	0.1015:0.0:0.8985:0.0	.	450;317	Q15051;Q15051-2	IQCB1_HUMAN;.	V	450;317	ENSP00000311505:L450V;ENSP00000323756:L317V	ENSP00000311505:L450V	L	-	1	0	IQCB1	122983342	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	3.513000	0.53414	1.293000	0.44690	0.591000	0.81541	CTC		0.403	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		3	67	0	0	0	0.150653	0	3	67				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	100	0	0	0	0.184627	0	3	100				
ERICH6	131831	broad.mit.edu	37	3	150421360	150421360	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:150421360G>A	ENST00000295910.6	-	1	378	c.326C>T	c.(325-327)aCg>aTg	p.T109M	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCACGAACGTAGAGGTCAG	0.637																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(325-327)aCg>aTg		family with sequence similarity 194, member A							87.0	77.0	80.0					3																	150421360		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150421360G>A																												ENST00000295910.6:c.326C>T	3.37:g.150421360G>A	ENSP00000295910:p.Thr109Met					FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	p.T109M	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			1	378	-			109						Missense_Mutation	SNP	ENST00000295910.6	37	c.326C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286760	0.40494	.	.	ENSG00000163645	ENST00000295910;ENST00000313811;ENST00000474463;ENST00000498386	T;T;T	0.49139	2.54;0.79;0.79	3.41	2.51	0.30379	.	0.374785	0.19731	N	0.107347	T	0.37865	0.1019	L	0.29908	0.895	0.24027	N	0.996125	D	0.61080	0.989	P	0.48454	0.578	T	0.12528	-1.0544	10	0.41790	T	0.15	-4.9093	7.1697	0.25712	0.1251:0.0:0.8749:0.0	.	109	Q7L0X2	F194A_HUMAN	M	109;67;83;69	ENSP00000295910:T109M;ENSP00000419304:T83M;ENSP00000417780:T69M	ENSP00000295910:T109M	T	-	2	0	FAM194A	151904050	0.004000	0.15560	0.009000	0.14445	0.007000	0.05969	0.569000	0.23638	0.983000	0.38602	0.561000	0.74099	ACG		0.637	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	46	0	0	0	0.150653	0	3	46				
FOXC2	2303	broad.mit.edu	37	16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:86602380C>G	ENST00000320354.4	+	1	1524	c.1439C>G	c.(1438-1440)cCc>cGc	p.P480R	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TGCCAGCTGCCCTACAGATCC	0.647									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1438-1440)cCc>cGc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							32.0	30.0	31.0					16																	86602380		2175	4264	6439	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602380C>G	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1439C>G	16.37:g.86602380C>G	ENSP00000326371:p.Pro480Arg						p.P480R	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1524	+			480					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.1439C>G	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491736	0.44249	.	.	ENSG00000176692	ENST00000320354	T	0.76060	-0.99	4.35	4.35	0.52113	.	1.847060	0.03063	U	0.156132	T	0.77922	0.4203	L	0.27053	0.805	0.52501	D	0.999959	D	0.59357	0.985	P	0.53360	0.724	T	0.67492	-0.5657	10	0.72032	D	0.01	.	15.5954	0.76574	0.0:1.0:0.0:0.0	.	480	Q99958	FOXC2_HUMAN	R	480	ENSP00000326371:P480R	ENSP00000326371:P480R	P	+	2	0	FOXC2	85159881	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	5.216000	0.65246	2.223000	0.72356	0.462000	0.41574	CCC		0.647	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		3	82	0	0	0	0.150653	0	3	82				
OR6Y1	391112	broad.mit.edu	37	1	158517227	158517227	+	Silent	SNP	G	G	A	rs537972026		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(667-669)taC>taT		olfactory receptor, family 6, subfamily Y, member 1							115.0	109.0	111.0					1																	158517227		2202	4300	6502	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517227G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.669C>T	1.37:g.158517227G>A							p.Y223Y	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	668	-	all_hematologic(112;0.0378)		223					Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.669C>T	CCDS30899.1																																																																																				0.537	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		6	69	0	0	0	0.217242	0	6	69				
E2F7	144455	broad.mit.edu	37	12	77419608	77419608	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:77419608C>T	ENST00000322886.7	-	12	2530	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	765					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAACCGGGCCCGGCATTGCAG	0.562																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2293-2295)ccG>ccA		E2F transcription factor 7							42.0	45.0	44.0					12																	77419608		2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419608C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2295G>A	12.37:g.77419608C>T						E2F7_ENST00000416496.2_Intron	p.P765P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			12	2530	-			765					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.2295G>A	CCDS9016.1																																																																																				0.562	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		10	13	0	0	0	0.387290	0	10	13				
LAMA5	3911	broad.mit.edu	37	20	60884512	60884512	+	Silent	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr20:60884512G>C	ENST00000252999.3	-	80	11034	c.10968C>G	c.(10966-10968)ccC>ccG	p.P3656P	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3656	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGGGGGCCAGGGCTGCACGG	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10966-10968)ccC>ccG		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						7.0	9.0	8.0					20																	60884512		1939	3920	5859	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884512G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10968C>G	20.37:g.60884512G>C							p.P3656P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		80	11034	-	Breast(26;1.57e-08)		3656			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10968C>G	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	8	0	0	0	0.150653	0	3	8				
ZNF626	199777	broad.mit.edu	37	19	20807184	20807184	+	Missense_Mutation	SNP	T	T	C	rs71332197		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:20807184T>C	ENST00000601440.1	-	4	1645	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	500			E -> K (in dbSNP:rs10408597).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGATTCTCTCATGTGTAGT	0.398																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1498-1500)gAg>gGg		zinc finger protein 626							53.0	25.0	34.0					19																	20807184		1933	3831	5764	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807184T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1499A>G	19.37:g.20807184T>C	ENSP00000469958:p.Glu500Gly					CTC-513N18.7_ENST00000595094.1_lincRNA	p.E500G	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1645	-			500		E -> K (in dbSNP:rs10408597).			Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1499A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.105	0.777547	0.16120	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.477	0.12097	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06625	-1.0816	8	0.87932	D	0	.	3.9033	0.09171	0.0:0.6461:0.0:0.3539	.	500	Q68DY1	ZN626_HUMAN	G	500;424	.	ENSP00000376118:E500G	E	-	2	0	ZNF626	20599024	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.097000	0.11042	0.148000	0.19059	0.147000	0.16070	GAG		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		3	69	0	0	0	0.115264	0	3	69				
FOXRED2	80020	broad.mit.edu	37	22	36897391	36897391	+	Silent	SNP	G	G	A	rs144879175		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr22:36897391G>A	ENST00000397224.4	-	5	1206	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	FOXRED2_ENST00000366463.3_5'Flank|FOXRED2_ENST00000397223.4_Silent_p.Y371Y|FOXRED2_ENST00000216187.6_Silent_p.Y371Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	371					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTGGATTCGTAGCTAGCTC	0.527																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1111-1113)taC>taT		FAD-dependent oxidoreductase domain containing 2		G	,	0,4406		0,0,2203	79.0	78.0	78.0		1113,1113	-5.4	0.9	22	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FOXRED2	NM_001102371.1,NM_024955.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	371/685,371/685	36897391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36897391G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1113C>T	22.37:g.36897391G>A						FOXRED2_ENST00000397223.4_Silent_p.Y371Y|FOXRED2_ENST00000216187.6_Silent_p.Y371Y	p.Y371Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			5	1206	-			371					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.1113C>T	CCDS13929.1																																																																																				0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		17	39	0	0	0	0.575678	0	17	39				
ANK1	286	broad.mit.edu	37	8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr8:41552776C>T	ENST00000347528.4	-	27	3117	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1012	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTTTTCGCTCCTCAGA	0.617																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3034-3036)Gaa>Aaa		ankyrin 1, erythrocytic							109.0	101.0	103.0					8																	41552776		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552776C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3034G>A	8.37:g.41552776C>T	ENSP00000339620:p.Glu1012Lys					ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K	p.E1012K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		27	3117	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1012			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3034G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.096248|5.096248	0.94197|0.94197	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.09|5.09	5.09|5.09	0.68999|0.68999	ZU5 (3);|.	0.052887|.	0.64402|.	D|.	0.000001|.	T|T	0.73265|0.73265	0.3565|0.3565	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P;D;P;D;P;D|.	0.71674|.	0.898;0.961;0.893;0.998;0.832;0.998|.	P;B;P;P;P;D|.	0.70016|.	0.465;0.437;0.496;0.75;0.465;0.967|.	T|T	0.72137|0.72137	-0.4381|-0.4381	10|5	0.87932|.	D|.	0|.	.|.	18.4955|18.4955	0.90864|0.90864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1053;1012;1012;1012;1012;328|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1012;1012;1012;1012;1012;1012;1053;1012|333	ENSP00000339620:E1012K;ENSP00000289734:E1012K;ENSP00000369082:E1012K;ENSP00000380149:E1012K;ENSP00000380147:E1012K;ENSP00000309131:E1012K;ENSP00000265709:E1053K|.	ENSP00000265709:E1053K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41671933|41671933	1.000000|1.000000	0.71417|0.71417	0.224000|0.224000	0.23877|0.23877	0.726000|0.726000	0.41606|0.41606	7.818000|7.818000	0.86416|0.86416	2.350000|2.350000	0.79820|0.79820	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	75	0	0	0	0.387290	0	11	75				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	19	0	0	0	0.115264	0	3	19				
COL27A1	85301	broad.mit.edu	37	9	117014898	117014898	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:117014898C>A	ENST00000356083.3	+	26	3450	c.3059C>A	c.(3058-3060)cCa>cAa	p.P1020Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1020	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATGGGACCCCCAGGCGTGCCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3058-3060)cCa>cAa		collagen, type XXVII, alpha 1							149.0	138.0	142.0					9																	117014898		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014898C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3059C>A	9.37:g.117014898C>A	ENSP00000348385:p.Pro1020Gln						p.P1020Q	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			26	3450	+			1020			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3059C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794262	0.50102	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93307	-3.2	5.24	5.24	0.73138	.	.	.	.	.	D	0.93706	0.7989	L	0.38953	1.18	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	D	0.90228	0.4277	9	0.12766	T	0.61	.	14.2119	0.65771	0.0:1.0:0.0:0.0	.	1020	Q8IZC6	CORA1_HUMAN	Q	1020	ENSP00000348385:P1020Q	ENSP00000348385:P1020Q	P	+	2	0	COL27A1	116054719	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.185000	0.65076	2.724000	0.93272	0.561000	0.74099	CCA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	157	1	0	0.217242	0.217242	0.231921	4	157				
SIM1	6492	broad.mit.edu	37	6	100841376	100841376	+	Silent	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:100841376G>T	ENST00000369208.3	-	11	2339	c.1557C>A	c.(1555-1557)gtC>gtA	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1555-1557)gtC>gtA		single-minded family bHLH transcription factor 1							110.0	104.0	106.0					6																	100841376		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841376G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1557C>A	6.37:g.100841376G>T						SIM1_ENST00000262901.4_Silent_p.V519V	p.V519V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2339	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	519			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1557C>A	CCDS5045.1																																																																																				0.552	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		10	94	1	0	4.36969e-10	0.435327	5.31085e-10	10	94				
WDR49	151790	broad.mit.edu	37	3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T	rs201698456		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:167319938G>T	ENST00000308378.3	-	3	534	c.229C>A	c.(229-231)Ctt>Att	p.L77I	WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	77										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGCTGAAAAGTTGTTTTCTT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.0		0.001	False		,,,				2504	0.0					ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(229-231)Ctt>Att		WD repeat domain 49		G	ILE/LEU	0,4406		0,0,2203	90.0	91.0	90.0		229	5.3	1.0	3		90	6,8594	5.0+/-18.6	0,6,4294	yes	missense	WDR49	NM_178824.3	5	0,6,6497	TT,TG,GG		0.0698,0.0,0.0461	probably-damaging	77/698	167319938	6,13000	2203	4300	6503	SO:0001583	missense	151790							g.chr3:167319938G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.229C>A	3.37:g.167319938G>T	ENSP00000311343:p.Leu77Ile					WDR49_ENST00000453925.2_Missense_Mutation_p.L130I|WDR49_ENST00000479765.1_Missense_Mutation_p.L418I	p.L77I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			3	534	-			77					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.229C>A	CCDS3201.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	14.34|14.34	2.504858|2.504858	0.44558|0.44558	0.0|0.0	6.98E-4|6.98E-4	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925|ENST00000472600	T;T;T|.	0.65549|.	-0.16;1.21;-0.16|.	5.34|5.34	5.34|5.34	0.76211|0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.133347|.	0.49916|.	D|.	0.000122|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.33293|0.33293	1|1	0.35249|0.35249	D|D	0.778475|0.778475	D;D;D|.	0.69078|.	0.957;0.981;0.997|.	P;P;P|.	0.62649|.	0.71;0.8;0.905|.	T|T	0.63492|0.63492	-0.6625|-0.6625	10|5	0.17832|.	T|.	0.49|.	.|.	17.8251|17.8251	0.88662|0.88662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;418;77|.	E7EQK3;E9PDB0;Q8IV35|.	.;.;WDR49_HUMAN|.	I|K	77;418;130|141	ENSP00000311343:L77I;ENSP00000419749:L418I;ENSP00000410863:L130I|.	ENSP00000311343:L77I|.	L|N	-|-	1|3	0|2	WDR49|WDR49	168802632|168802632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.916000|6.916000	0.75776|0.75776	2.484000|2.484000	0.83849|0.83849	0.557000|0.557000	0.71058|0.71058	CTT|AAC		0.408	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		26	83	1	0	5.60225e-13	0.740014	7.02504e-13	26	83				
TMEM2	23670	broad.mit.edu	37	9	74349890	74349890	+	Missense_Mutation	SNP	G	G	A	rs151327312		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:74349890G>A	ENST00000377044.4	-	6	1764	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	409					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCTCTACCCGGAATCCTGAA	0.373																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1225-1227)Cgg>Tgg		transmembrane protein 2		G	,TRP/ARG	0,4406		0,0,2203	130.0	126.0	128.0		,1225	3.2	1.0	9	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TMEM2	NM_001135820.1,NM_013390.2	,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,409/1384	74349890	1,13005	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74349890G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1225C>T	9.37:g.74349890G>A	ENSP00000366243:p.Arg409Trp					TMEM2_ENST00000377066.5_Intron	p.R409W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	6	1764	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	409					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1225C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259776	0.59321	0.0	1.16E-4	ENSG00000135048	ENST00000377044	T	0.73789	-0.78	6.08	3.23	0.37069	.	0.232716	0.44688	N	0.000434	T	0.61451	0.2348	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.55617	-0.8113	10	0.62326	D	0.03	.	10.0758	0.42360	0.0936:0.0:0.7872:0.1192	.	409	Q9UHN6	TMEM2_HUMAN	W	409	ENSP00000366243:R409W	ENSP00000366243:R409W	R	-	1	2	TMEM2	73539710	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.731000	0.55013	0.441000	0.26529	0.655000	0.94253	CGG		0.373	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		3	79	0	0	0	0.115264	0	3	79				
ZCCHC4	29063	broad.mit.edu	37	4	25314478	25314478	+	Missense_Mutation	SNP	G	G	A	rs201763036	byFrequency	TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:25314478G>A	ENST00000302874.4	+	1	71	c.47G>A	c.(46-48)aGc>aAc	p.S16N	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	16							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GCAGAGGGCAGCGCAGGGTGC	0.642											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(46-48)aGc>aAc		zinc finger, CCHC domain containing 4							70.0	89.0	83.0					4																	25314478		2050	4194	6244	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314478G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.47G>A	4.37:g.25314478G>A	ENSP00000303468:p.Ser16Asn		OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778	ZCCHC4_ENST00000505451.1_3'UTR	p.S16N	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			1	71	+		Breast(46;0.0503)	16					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.47G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905596	0.33628	.	.	ENSG00000168228	ENST00000302874	T	0.30981	1.51	5.18	-5.71	0.02413	.	1.862370	0.01786	N	0.032033	T	0.13114	0.0318	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12116	-1.0560	10	0.17369	T	0.5	-5.9509	1.3284	0.02130	0.2451:0.1002:0.2206:0.4341	.	16	Q9H5U6	ZCHC4_HUMAN	N	16	ENSP00000303468:S16N	ENSP00000303468:S16N	S	+	2	0	ZCCHC4	24923576	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.725000	0.01863	-1.763000	0.01307	0.655000	0.94253	AGC		0.642	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			4	128	0	0	0	0.150653	0	4	128				
DCAF12L1	139170	broad.mit.edu	37	X	125685920	125685920	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642																																						ENST00000371126.1																			1	Substitution - coding silent(1)	p.P224P(1)	endometrium(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(670-672)ccG>ccA		DDB1 and CUL4 associated factor 12-like 1							34.0	36.0	35.0					X																	125685920		2202	4297	6499	SO:0001819	synonymous_variant	139170							g.chrX:125685920C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.672G>A	X.37:g.125685920C>T							p.P224P	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	914	-			224					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.672G>A	CCDS14610.1																																																																																				0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		25	14	0	0	0	0.729181	0	25	14				
MYH4	4622	broad.mit.edu	37	17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	859					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTCAAATTCTTCCTTCA	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2575-2577)gaA>gaC		myosin, heavy chain 4, skeletal muscle							205.0	179.0	187.0					17																	10357986		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357986T>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2577A>C	17.37:g.10357986T>G	ENSP00000255381:p.Glu859Asp					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E859D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			22	2687	-			859						Missense_Mutation	SNP	ENST00000255381.2	37	c.2577A>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447361	0.25987	.	.	ENSG00000141048	ENST00000255381	D	0.85258	-1.96	5.17	-10.3	0.00346	.	0.191444	0.24438	N	0.038524	T	0.71048	0.3294	L	0.55213	1.73	0.30149	N	0.803252	B	0.09022	0.002	B	0.12837	0.008	T	0.49234	-0.8961	10	0.48119	T	0.1	.	3.053	0.06175	0.3477:0.3733:0.1665:0.1125	.	859	Q9Y623	MYH4_HUMAN	D	859	ENSP00000255381:E859D	ENSP00000255381:E859D	E	-	3	2	MYH4	10298711	0.000000	0.05858	0.619000	0.29118	0.603000	0.37013	-4.714000	0.00195	-2.650000	0.00424	-1.645000	0.00762	GAA		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	102	0	0	0	0.217242	0	4	102				
KAT6B	23522	broad.mit.edu	37	10	76788961	76788961	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:76788961T>G	ENST00000287239.4	+	18	4868	c.4379T>G	c.(4378-4380)tTa>tGa	p.L1460*	KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1460					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGACTTTTTTAGACCTTAAT	0.507																																						ENST00000287239.4																			0											c.(4378-4380)tTa>tGa		K(lysine) acetyltransferase 6B							68.0	75.0	73.0					10																	76788961		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788961T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4379T>G	10.37:g.76788961T>G	ENSP00000287239:p.Leu1460*					KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*	p.L1460*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4868	+			1460					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.4379T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	40	8.525424	0.98848	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	4.81	4.81	0.61882	.	0.000000	0.39407	N	0.001363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1057	14.3656	0.66803	0.0:0.0:0.0:1.0	.	.	.	.	X	1168;1168;1460;1168;1277	.	ENSP00000287239:L1460X	L	+	2	0	KAT6B	76458967	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	3.946000	0.56644	1.804000	0.52760	0.533000	0.62120	TTA		0.507	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	51	0	0	0	0.217242	0	3	51				
GRM4	2914	broad.mit.edu	37	6	34003799	34003799	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:34003799G>A	ENST00000538487.2	-	9	2531	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P|GRM4_ENST00000374177.3_Silent_p.P580P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	696					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A697fs*126(2)|p.A581fs*126(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGTGAGGCGGGGCTGATGA	0.617																																						ENST00000374181.3																			3	Deletion - Frameshift(3)	p.A697fs*126(2)|p.A581fs*126(1)	large_intestine(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2086-2088)ccC>ccT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						110.0	121.0	117.0					6																	34003799		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003799G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2088C>T	6.37:g.34003799G>A						GRM4_ENST00000544773.1_Silent_p.P527P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000538487.1_Silent_p.P696P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000545715.1_Silent_p.P388P	p.P696P	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2257	-			696					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2088C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			6	133	0	0	0	0.217242	0	6	133				
IRF2BP1	26145	broad.mit.edu	37	19	46388640	46388640	+	Silent	SNP	A	A	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:46388640A>G	ENST00000302165.3	-	1	736	c.393T>C	c.(391-393)acT>acC	p.T131T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGACCCCAGAGTGTACTCCA	0.721																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(391-393)acT>acC		interferon regulatory factor 2 binding protein 1							10.0	12.0	11.0					19																	46388640		2129	4196	6325	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388640A>G	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.393T>C	19.37:g.46388640A>G							p.T131T	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	736	-		all_neural(266;0.113)|Ovarian(192;0.127)	131					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.393T>C	CCDS12678.1																																																																																				0.721	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		3	33	0	0	0	0.184627	0	3	33				
ZBTB11	27107	broad.mit.edu	37	3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:101383903G>A	ENST00000312938.4	-	4	2108	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACAGAACGTTGTCGAAGC	0.428																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1528-1530)Cgt>Tgt		zinc finger and BTB domain containing 11							199.0	185.0	189.0					3																	101383903		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383903G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1528C>T	3.37:g.101383903G>A	ENSP00000326200:p.Arg510Cys						p.R510C	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2108	-			510					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1528C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537879	0.45176	.	.	ENSG00000066422	ENST00000312938	T	0.14266	2.52	6.03	6.03	0.97812	.	0.052424	0.85682	D	0.000000	T	0.12135	0.0295	L	0.34521	1.04	0.80722	D	1	B	0.27068	0.167	B	0.17433	0.018	T	0.02683	-1.1124	10	0.66056	D	0.02	-18.8379	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	510	O95625	ZBT11_HUMAN	C	510	ENSP00000326200:R510C	ENSP00000326200:R510C	R	-	1	0	ZBTB11	102866593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.489000	0.66875	2.861000	0.98227	0.655000	0.94253	CGT		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		9	119	0	0	0	0.387290	0	9	119				
HLF	3131	broad.mit.edu	37	17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:53392674G>C	ENST00000226067.5	+	3	1011	c.538G>C	c.(538-540)Gca>Cca	p.A180P	HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	180	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						GCCAGACCCAGCAGATCTTGC	0.527			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(538-540)Gca>Cca		hepatic leukemia factor							119.0	106.0	110.0					17																	53392674		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53392674G>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.538G>C	17.37:g.53392674G>C	ENSP00000226067:p.Ala180Pro					HLF_ENST00000430986.2_Missense_Mutation_p.A95P|HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P	p.A180P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			3	1011	+			180			Pro-rich (proline/acidic region (PAR)).		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.538G>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819165	0.90873	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.79926	2.475	0.80722	D	1	B;D	0.89917	0.204;1.0	B;D	0.69307	0.099;0.963	T	0.79897	-0.1609	9	0.44086	T	0.13	.	18.6178	0.91310	0.0:0.0:1.0:0.0	.	128;180	B4DIQ5;Q16534	.;HLF_HUMAN	P	180;95	.	ENSP00000226067:A180P	A	+	1	0	HLF	50747673	1.000000	0.71417	0.959000	0.39883	0.948000	0.59901	4.767000	0.62286	2.644000	0.89710	0.655000	0.94253	GCA		0.527	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		27	78	0	0	0	0.740014	0	27	78				
KRTAP12-1	353332	broad.mit.edu	37	21	46101933	46101933	+	Missense_Mutation	SNP	C	C	T	rs139816004		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr21:46101933C>T	ENST00000391617.1	-	1	145	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	36	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CTCACGGGCACGCACACGGAG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		17145	0.001		0.0	False		,,,				2504	0.0					ENST00000391617.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(106-108)Gtg>Atg		keratin associated protein 12-1		C	,MET/VAL	2,4376		0,2,2187	59.0	69.0	66.0		,106	-0.3	0.0	21	dbSNP_134	66	11,8533		0,11,4261	yes	intron,missense	TSPEAR,KRTAP12-1	NM_144991.2,NM_181686.1	,21	0,13,6448	TT,TC,CC		0.1287,0.0457,0.1006	,possibly-damaging	,36/97	46101933	13,12909	2189	4272	6461	SO:0001583	missense	353332					keratin filament		g.chr21:46101933C>T	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"""Keratin associated proteins"""	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.106G>A	21.37:g.46101933C>T	ENSP00000375475:p.Val36Met					TSPEAR_ENST00000323084.4_Intron	p.V36M	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN			1	145	-			36			14 X 5 AA approximate repeats.		Q0VAS3	Missense_Mutation	SNP	ENST00000391617.1	37	c.106G>A	CCDS42966.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	7.868	0.727626	0.15439	4.57E-4	0.001287	ENSG00000187175	ENST00000391617	T	0.01430	4.9	2.88	-0.287	0.12858	.	1.157790	0.06996	U	0.822521	T	0.01092	0.0036	.	.	.	0.09310	N	1	B	0.29766	0.256	B	0.19946	0.027	T	0.47699	-0.9097	9	0.42905	T	0.14	.	2.6165	0.04905	0.1871:0.5146:0.1824:0.1159	.	36	P59990	KR121_HUMAN	M	36	ENSP00000375475:V36M	ENSP00000375475:V36M	V	-	1	0	KRTAP12-1	44926361	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	0.248000	0.18198	-0.215000	0.10063	-0.693000	0.03709	GTG		0.687	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		5	119	0	0	0	0.184627	0	5	119				
CAMK2B	816	broad.mit.edu	37	7	44259781	44259781	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:44259781G>A	ENST00000395749.2	-	23	1957	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	CAMK2B_ENST00000347193.4_Silent_p.D453D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000350811.3_Silent_p.D503D|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000457475.1_Silent_p.D479D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	627					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGCCCTGCCCGTCAATGTACT	0.657																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1879-1881)gaC>gaT		calcium/calmodulin-dependent protein kinase II beta							63.0	43.0	50.0					7																	44259781		2202	4300	6502	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44259781G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1881C>T	7.37:g.44259781G>A						CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000347193.4_Silent_p.D453D|CAMK2B_ENST00000350811.3_Silent_p.D503D|CAMK2B_ENST00000457475.1_Silent_p.D479D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000502837.2_3'UTR	p.D627D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			23	1957	-			627					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.1881C>T	CCDS5483.1																																																																																				0.657	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		5	35	0	0	0	0.217242	0	5	35				
RNF181	51255	broad.mit.edu	37	2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:85822908C>T	ENST00000306368.4	+	1	52	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RNF181_ENST00000441634.1_Missense_Mutation_p.H8Y	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	8					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TTTCGATGAACACGACTGCGA	0.632																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(22-24)Cac>Tac		ring finger protein 181							41.0	36.0	37.0					2																	85822908		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85822908C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.22C>T	2.37:g.85822908C>T	ENSP00000306906:p.His8Tyr					RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y	p.H8Y			Q9P0P0	RN181_HUMAN			1	61	+			8					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.22C>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134418	0.77662	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.90069	-2.61;-2.61	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.72118	2.19	0.58432	D	0.999999	P	0.39282	0.666	B	0.35039	0.194	D	0.83996	0.0340	10	0.02654	T	1	.	16.7735	0.85545	0.0:1.0:0.0:0.0	.	8	Q9P0P0	RN181_HUMAN	Y	8	ENSP00000412025:H8Y;ENSP00000306906:H8Y	ENSP00000306906:H8Y	H	+	1	0	RNF181	85676419	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.232000	0.72313	2.573000	0.86826	0.561000	0.74099	CAC		0.632	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		3	32	0	0	0	0.150653	0	3	32				
JAK1	3716	broad.mit.edu	37	1	65309872	65309872	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:65309872C>T	ENST00000342505.4	-	17	2526	c.2278G>A	c.(2278-2280)Gct>Act	p.A760T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	760	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CACTCAGGAGCAATCCATGGG	0.502			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2278-2280)Gct>Act		Janus kinase 1							165.0	163.0	163.0					1																	65309872		2047	4198	6245	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309872C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2278G>A	1.37:g.65309872C>T	ENSP00000343204:p.Ala760Thr					JAK1_ENST00000465376.1_5'UTR	p.A760T	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2526	-			760			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2278G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475635	0.84640	.	.	ENSG00000162434	ENST00000342505	T	0.59906	0.23	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.82250	0.4996	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86638	0.1890	9	0.72032	D	0.01	-3.8222	19.3012	0.94144	0.0:1.0:0.0:0.0	.	760	P23458	JAK1_HUMAN	T	760	ENSP00000343204:A760T	ENSP00000343204:A760T	A	-	1	0	JAK1	65082460	1.000000	0.71417	0.797000	0.32132	0.254000	0.26022	7.228000	0.78079	2.786000	0.95864	0.561000	0.74099	GCT		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	123	0	0	0	0.217242	0	4	123				
STX3	6809	broad.mit.edu	37	11	59559664	59559664	+	Silent	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:59559664C>A	ENST00000337979.4	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000535361.1_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000529177.1_Silent_p.R148R	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	148					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGCAAAGGGCGAATCCAGCG	0.512																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(442-444)Cga>Aga		syntaxin 3							121.0	102.0	108.0					11																	59559664		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59559664C>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.442C>A	11.37:g.59559664C>A						STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000529177.1_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000337979.4_Silent_p.R148R	p.R148R			Q13277	STX3_HUMAN			6	989	+			148					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.442C>A	CCDS7975.1																																																																																				0.512	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		3	52	1	0	0.00909568	0.150653	0.0101205	3	52				
MYH8	4626	broad.mit.edu	37	17	10296220	10296220	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1797					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAGACGATGCTGCAGGTCCT	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5389-5391)caG>caA		myosin, heavy chain 8, skeletal muscle, perinatal							131.0	130.0	131.0					17																	10296220		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296220C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5391G>A	17.37:g.10296220C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.Q1797Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5485	-			1797					Q14910	Silent	SNP	ENST00000403437.2	37	c.5391G>A	CCDS11153.1																																																																																				0.577	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	131	0	0	0	0.307466	0	8	131				
C2orf57	165100	broad.mit.edu	37	2	232458456	232458456	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:232458456C>T	ENST00000313965.2	+	1	882	c.794C>T	c.(793-795)aCg>aTg	p.T265M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	265								p.T265M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGCCTGTACACGGCCAGTGAG	0.657																																						ENST00000313965.2																			1	Substitution - Missense(1)	p.T265M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(793-795)aCg>aTg		chromosome 2 open reading frame 57							80.0	84.0	83.0					2																	232458456		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458456C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.794C>T	2.37:g.232458456C>T	ENSP00000315557:p.Thr265Met						p.T265M	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	882	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	265					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.794C>T	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	t	11.17	1.560260	0.27827	.	.	ENSG00000177673	ENST00000313965	T	0.17213	2.29	4.83	-4.99	0.03010	.	.	.	.	.	T	0.05960	0.0155	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	9	0.48119	T	0.1	.	3.6068	0.08045	0.1053:0.249:0.4621:0.1836	.	265	Q53QW1	CB057_HUMAN	M	265	ENSP00000315557:T265M	ENSP00000315557:T265M	T	+	2	0	C2orf57	232166700	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-2.877000	0.00717	-1.309000	0.02315	-0.360000	0.07572	ACG		0.657	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		4	104	0	0	0	0.184627	0	4	104				
FOXK2	3607	broad.mit.edu	37	17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:80521333G>A	ENST00000335255.5	+	2	697	c.523G>A	c.(523-525)Gta>Ata	p.V175I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	175					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(523-525)Gta>Ata		forkhead box K2							155.0	100.0	119.0					17																	80521333		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80521333G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.523G>A	17.37:g.80521333G>A	ENSP00000335677:p.Val175Ile						p.V175I	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		2	697	+	Breast(20;0.00106)|all_neural(118;0.0952)		175					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.523G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730801	0.69074	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000526383	D;D	0.95001	-3.24;-3.58	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	L	0.47716	1.5	0.50467	D	0.999871	P;D;D	0.63046	0.744;0.977;0.992	B;P;P	0.51324	0.179;0.465;0.666	D	0.93190	0.6582	10	0.34782	T	0.22	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	175;175;175	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	I	171;175;175;55	ENSP00000335677:V175I;ENSP00000432663:V55I	ENSP00000334321:V175I	V	+	1	0	FOXK2	78114622	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	GTA		0.582	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		19	47	0	0	0	0.608945	0	19	47				
DDN	23109	broad.mit.edu	37	12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	332						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCTTGGGGATGGCTGTCGCTA	0.662																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(994-996)Cat>Tat		dendrin							47.0	55.0	52.0					12																	49391665		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391665G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.994C>T	12.37:g.49391665G>A	ENSP00000390590:p.His332Tyr						p.H332Y	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1015	-			332						Missense_Mutation	SNP	ENST00000421952.2	37	c.994C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622943	0.66901	.	.	ENSG00000181418	ENST00000421952	T	0.45668	0.89	3.88	2.06	0.26882	.	0.693465	0.12674	N	0.448508	T	0.26593	0.0650	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21008	-1.0258	10	0.66056	D	0.02	0.0188	5.8189	0.18516	0.3275:0.0:0.6725:0.0	.	332	O94850	DEND_HUMAN	Y	332	ENSP00000390590:H332Y	ENSP00000390590:H332Y	H	-	1	0	DDN	47677932	0.007000	0.16637	0.002000	0.10522	0.814000	0.46013	1.729000	0.38115	0.621000	0.30232	0.561000	0.74099	CAT		0.662	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			33	118	0	0	0	0.859065	0	33	118				
EIF3CL	728689	broad.mit.edu	37	16	28403157	28403157	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28403157G>C	ENST00000398943.3	-	10	1095	c.959C>G	c.(958-960)gCc>gGc	p.A320G	EIF3CL_ENST00000398944.3_Missense_Mutation_p.A320G|EIF3CL_ENST00000380876.4_Missense_Mutation_p.A320G			B5ME19	EIFCL_HUMAN	eukaryotic translation initiation factor 3, subunit C-like	320					formation of translation preinitiation complex (GO:0001731)|regulation of translational initiation (GO:0006446)	eukaryotic 43S preinitiation complex (GO:0016282)|eukaryotic 48S preinitiation complex (GO:0033290)|eukaryotic translation initiation factor 3 complex (GO:0005852)	translation initiation factor activity (GO:0003743)										AGTTCCCTTGGCAAACATTTT	0.488																																						ENST00000398943.3																			0											c.(958-960)gCc>gGc		eukaryotic translation initiation factor 3, subunit C-like							213.0	183.0	193.0					16																	28403157		2151	4025	6176	SO:0001583	missense	728689							g.chr16:28403157G>C		CCDS42136.1	16p11.2	2008-10-28			ENSG00000205609	ENSG00000205609			26347	protein-coding gene	gene with protein product							Standard	NM_001099661		Approved			B5ME19	OTTHUMG00000097025	ENST00000398943.3:c.959C>G	16.37:g.28403157G>C	ENSP00000381916:p.Ala320Gly					EIF3CL_ENST00000398944.3_Missense_Mutation_p.A320G|EIF3CL_ENST00000380876.4_Missense_Mutation_p.A320G	p.A320G							10	1095	-									Missense_Mutation	SNP	ENST00000398943.3	37	c.959C>G	CCDS42136.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.981859	0.34942	.	.	ENSG00000205609	ENST00000398944;ENST00000380876;ENST00000398943;ENST00000543862;ENST00000444473	.	.	.	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.43152	1.355	0.58432	D	0.999995	D;B;B	0.65815	0.995;0.048;0.009	D;B;B	0.64506	0.926;0.048;0.042	T	0.65323	-0.6196	9	0.42905	T	0.14	.	13.0499	0.58948	0.0:0.0:1.0:0.0	.	319;320;191	A1KYQ7;B5ME19;F5GZ22	.;.;.	G	320;320;320;305;168	.	ENSP00000370258:A320G	A	-	2	0	EIF3CL	28310658	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	8.396000	0.90190	1.633000	0.50488	0.430000	0.28490	GCC		0.488	EIF3CL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214116.1			6	230	0	0	0	0.307466	0	6	230				
LRRC32	2615	broad.mit.edu	37	11	76371902	76371902	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:76371902G>A	ENST00000407242.2	-	3	977	c.735C>T	c.(733-735)ctC>ctT	p.L245L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	245					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGCCAGGTGAGCTGGAACT	0.612																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(733-735)ctC>ctT		leucine rich repeat containing 32							48.0	52.0	51.0					11																	76371902		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371902G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.735C>T	11.37:g.76371902G>A						LRRC32_ENST00000260061.5_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L245L	p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	977	-			245					Q86V06	Silent	SNP	ENST00000407242.2	37	c.735C>T	CCDS8245.1																																																																																				0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		34	49	0	0	0	0.827153	0	34	49				
IMPG2	50939	broad.mit.edu	37	3	100964785	100964785	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:100964785C>T	ENST00000193391.7	-	12	1591	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	468					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGCCCATCTTCGAGGGAAAGG	0.517																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1402-1404)tcG>tcA		interphotoreceptor matrix proteoglycan 2							103.0	106.0	105.0					3																	100964785		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964785C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1404G>A	3.37:g.100964785C>T							p.S468S	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			12	1591	-			468					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.1404G>A	CCDS2940.1																																																																																				0.517	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			9	79	0	0	0	0.335167	0	9	79				
KIAA1549L	25758	broad.mit.edu	37	11	33689641	33689641	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:33689641C>T	ENST00000321505.4	+	20	5671	c.5491C>T	c.(5491-5493)Cgg>Tgg	p.R1831W	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1837W|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1831						integral component of membrane (GO:0016021)											GAAGGCCATCCGGGAGGAGGT	0.607																																						ENST00000321505.4																			0											c.(5491-5493)Cgg>Tgg		KIAA1549-like							42.0	49.0	47.0					11																	33689641		1990	4180	6170	SO:0001583	missense	25758							g.chr11:33689641C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5491C>T	11.37:g.33689641C>T	ENSP00000315295:p.Arg1831Trp					RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1837W	p.R1831W							20	5671	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5491C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152817	0.78001	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	3.61	0.41365	.	0.000000	0.64402	D	0.000015	T	0.63954	0.2555	L	0.27053	0.805	0.40880	D	0.983982	D	0.89917	1.0	D	0.91635	0.999	T	0.69316	-0.5177	9	0.87932	D	0	-13.2425	15.072	0.72046	0.2167:0.7833:0.0:0.0	.	1837	E9PAT2	.	W	1831;1837;1670	.	ENSP00000315295:R1831W	R	+	1	2	C11orf41	33646217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.597000	0.36729	2.686000	0.91538	0.561000	0.74099	CGG		0.607	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	29	0	0	0	0.150653	0	3	29				
ZNF347	84671	broad.mit.edu	37	19	53644695	53644695	+	Silent	SNP	G	G	A	rs201067829		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:53644695G>A	ENST00000334197.7	-	5	1454	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	ZNF347_ENST00000601469.2_Silent_p.C463C|ZNF347_ENST00000452676.2_Silent_p.C463C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGACCTTGCCGCATTCATGAC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		23441	0.001		0.0	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1387-1389)tgC>tgT		zinc finger protein 347							146.0	144.0	145.0					19																	53644695		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644695G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1386C>T	19.37:g.53644695G>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.C462C|ZNF347_ENST00000601469.2_Silent_p.C463C	p.C463C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1815	-			462					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1389C>T	CCDS33097.1																																																																																				0.433	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		4	159	0	0	0	0.150653	0	4	159				
HK3	3101	broad.mit.edu	37	5	176316502	176316502	+	Missense_Mutation	SNP	C	C	T	rs372314303		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:176316502C>T	ENST00000292432.5	-	8	885	c.794G>A	c.(793-795)cGg>cAg	p.R265Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	265	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGCGGCCCCGGTCTTCGTC	0.642																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(793-795)cGg>cAg		hexokinase 3 (white cell)		C	GLN/ARG	0,4406		0,0,2203	96.0	80.0	85.0		794	2.1	0.8	5		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK3	NM_002115.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	265/924	176316502	1,13005	2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316502C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.794G>A	5.37:g.176316502C>T	ENSP00000292432:p.Arg265Gln						p.R265Q	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	885	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	265			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.794G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908822	0.33721	0.0	1.16E-4	ENSG00000160883	ENST00000292432	D	0.96200	-3.94	5.34	2.11	0.27256	Hexokinase, C-terminal (1);	0.280488	0.25909	N	0.027516	D	0.87877	0.6288	N	0.11064	0.09	0.24844	N	0.992441	B	0.22604	0.072	B	0.27076	0.076	T	0.80446	-0.1379	10	0.54805	T	0.06	-26.7919	6.7623	0.23548	0.1324:0.6416:0.0:0.226	.	265	P52790	HXK3_HUMAN	Q	265	ENSP00000292432:R265Q	ENSP00000292432:R265Q	R	-	2	0	HK3	176249108	0.032000	0.19561	0.814000	0.32528	0.043000	0.13939	0.607000	0.24209	0.630000	0.30394	0.491000	0.48974	CGG		0.642	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			4	50	0	0	0	0.150653	0	4	50				
CASZ1	54897	broad.mit.edu	37	1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:10706334delG	ENST00000377022.3	-	17	3864	c.3547delC	c.(3547-3549)cacfs	p.H1183fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1183					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGAGACAGTGGAAGTGGAAC	0.547																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3547-3549)acfs		castor zinc finger 1							167.0	186.0	180.0					1																	10706334		2138	4231	6369	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10706334delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3547delC	1.37:g.10706334delG	ENSP00000366221:p.His1183fs					RP4-734G22.3_ENST00000606802.1_RNA	p.H1183fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	17	3864	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1183					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.3547delC	CCDS41246.1																																																																																				0.547	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		28	49						28	49	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:150923074_150923075insA	ENST00000271640.5	+	13	1911_1912	c.1721_1722insA	c.(1720-1725)ttacctfs	p.P575fs	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	575					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTTCTACTTACCTCATGTCT	0.579																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1720-1722)tccfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923074_150923075insA	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1722dupA	1.37:g.150923075_150923075dupA	ENSP00000271640:p.Pro575fs					SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.S574fs|SETDB1_ENST00000459773.1_Intron	p.S574fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1911_1912	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		574					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1721_1722insA	CCDS44217.1																																																																																				0.579	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			43	114						43	114	---	---	---	---
FAM177A1P1	728710	broad.mit.edu	37	4	99877411	99877413	+	RNA	DEL	GAG	GAG	-			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:99877411_99877413delGAG	ENST00000583654.1	+	0	237																											ATTACCAACAgaggaggaggagg	0.478																																						ENST00000583654.1																			0																																																			0							g.chr4:99877411_99877413delGAG																													4.37:g.99877420_99877422delGAG														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.478	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			2	4						2	4	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	5						4	5	---	---	---	---
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cgagga>cga	p.G152del	NANOS3_ENST00000339133.5_In_Frame_Del_p.G171del|MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645																																						ENST00000397555.2																			1	Deletion - In frame(1)	p.G171delG(1)	prostate(1)	breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(439-444)cga>c		nanos homolog 3 (Drosophila)				244,68,82,2948		50,1,2,141,16,0,35,6,68,1352						1.2	0.5		dbSNP_134	7	6,2,199,6931		1,0,0,4,0,0,2,8,183,3371	no	codingComplex	NANOS3	NM_001098622.2		51,1,2,145,16,0,37,14,251,4723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.9,11.7893,5.7347				250,70,281,9879				SO:0001651	inframe_deletion	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988559_13988561delGAG	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440_442delGAG	19.37:g.13988568_13988570delGAG	ENSP00000380687:p.Gly152del					NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del	p.RG147del	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	440_442	+			147					Q495E5	In_Frame_Del	DEL	ENST00000397555.2	37	c.440_442delGAG																																																																																					0.645	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		2	4						2	4	---	---	---	---
