#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
ZNF19	7567	broad.mit.edu	37	16	71509834	71509834	+	Missense_Mutation	SNP	G	G	A	rs199884411		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:71509834G>A	ENST00000288177.5	-	6	871	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R164W|ZNF19_ENST00000564230.1_Missense_Mutation_p.R206W|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.R136W	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CTCTGGTGCCGAATTAACGAA	0.443																																						ENST00000288177.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(616-618)Cgg>Tgg		zinc finger protein 19							67.0	72.0	71.0					16																	71509834		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509834G>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.616C>T	16.37:g.71509834G>A	ENSP00000288177:p.Arg206Trp					ZNF19_ENST00000565100.2_Missense_Mutation_p.R136W|ZNF19_ENST00000565637.1_Missense_Mutation_p.R164W|ZNF19_ENST00000564230.1_Missense_Mutation_p.R206W|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	p.R206W	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	871	-		Ovarian(137;0.00965)	206					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.616C>T	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692830	0.48202	.	.	ENSG00000157429	ENST00000288177	T	0.26660	1.72	3.49	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34725	N	0.003727	T	0.22360	0.0539	M	0.75085	2.285	0.09310	N	1	B	0.25441	0.126	B	0.22601	0.04	T	0.21655	-1.0239	10	0.87932	D	0	.	3.6228	0.08103	0.2073:0.0:0.2942:0.4984	.	206	P17023	ZNF19_HUMAN	W	206	ENSP00000288177:R206W	ENSP00000288177:R206W	R	-	1	2	ZNF19	70067335	0.000000	0.05858	0.006000	0.13384	0.995000	0.86356	-1.105000	0.03323	-0.140000	0.11394	0.655000	0.94253	CGG		0.443	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		46	41	0	0	0	0.870114	0	46	41				
WDR1	9948	broad.mit.edu	37	4	10083023	10083023	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:10083023G>A	ENST00000499869.2	-	11	1435	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	WDR1_ENST00000502702.1_Silent_p.A274A|WDR1_ENST00000382451.2_Silent_p.A274A|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_Silent_p.A414A			O75083	WDR1_HUMAN	WD repeat domain 1	414					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGGGGCCGACGGCTACGCACT	0.572																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1240-1242)gcC>gcT		WD repeat domain 1							83.0	91.0	88.0					4																	10083023		2033	4181	6214	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10083023G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1242C>T	4.37:g.10083023G>A						WDR1_ENST00000382451.2_Silent_p.A274A|WDR1_ENST00000499869.2_Silent_p.A414A|WDR1_ENST00000502702.1_Silent_p.A274A|WDR1_ENST00000515743.1_5'UTR	p.A414A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1524	-			414					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1242C>T	CCDS54740.1																																																																																				0.572	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			3	70	0	0	0	0.150653	0	3	70				
MYZAP	100820829	broad.mit.edu	37	15	57925871	57925871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:57925871G>T	ENST00000267853.5	+	8	959	c.865G>T	c.(865-867)Gag>Tag	p.E289*	GCOM1_ENST00000572390.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.E289*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.E258*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.E289*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.E258*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.E220*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	289					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GCAAGCAGCAGAGATCAGCCT	0.473																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(865-867)Gag>Tag									127.0	126.0	127.0					15																	57925871		2192	4292	6484	SO:0001587	stop_gained	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57925871G>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.865G>T	15.37:g.57925871G>T	ENSP00000267853:p.Glu289*					MYZAP_ENST00000380565.4_Nonsense_Mutation_p.E289*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.E289*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.E220*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.E258*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.E289*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.E258*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.E289*	p.E289*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			8	984	+			289					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	ENST00000267853.5	37	c.865G>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	39	7.785055	0.98489	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-34.0747	18.5497	0.91058	0.0:0.0:1.0:0.0	.	.	.	.	X	289;258;258;220;289;289;289;4	.	ENSP00000267853:E289X	E	+	1	0	GCOM1	55713163	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	7.777000	0.85628	2.676000	0.91093	0.563000	0.77884	GAG		0.473	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		5	139	1	0	0.000157383	0.278610	0.000172676	5	139				
FASTKD5	60493	broad.mit.edu	37	20	3128841	3128841	+	Silent	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:3128841A>C	ENST00000380266.3	-	2	1197	c.876T>G	c.(874-876)cgT>cgG	p.R292R	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	292					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGGATACCTGACGATTTTCAC	0.343																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(874-876)cgT>cgG		FAST kinase domains 5							72.0	75.0	74.0					20																	3128841		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128841A>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.876T>G	20.37:g.3128841A>C						UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	p.R292R	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1197	-			292					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.876T>G	CCDS13048.1																																																																																				0.343	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		14	150	0	0	0	0.457914	0	14	150				
CARD11	84433	broad.mit.edu	37	7	2956977	2956977	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:2956977G>A	ENST00000396946.4	-	20	3053	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	884					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCTGACCCGGGGGTCGCTT	0.547			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2650-2652)Cgg>Tgg		caspase recruitment domain family, member 11							37.0	51.0	46.0					7																	2956977		2203	4299	6502	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2956977G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2650C>T	7.37:g.2956977G>A	ENSP00000380150:p.Arg884Trp						p.R884W	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	20	3053	-		Ovarian(82;0.0115)	884					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2650C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439260	0.63067	.	.	ENSG00000198286	ENST00000396946	T	0.33438	1.41	4.99	4.11	0.48088	.	0.070233	0.53938	D	0.000057	T	0.22898	0.0553	N	0.08118	0	0.39643	D	0.97034	D	0.71674	0.998	P	0.50192	0.634	T	0.13845	-1.0494	10	0.62326	D	0.03	-21.1728	11.468	0.50249	0.0:0.0:0.596:0.404	.	884	Q9BXL7	CAR11_HUMAN	W	884	ENSP00000380150:R884W	ENSP00000380150:R884W	R	-	1	2	CARD11	2923503	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.282000	0.51693	1.108000	0.41662	-0.218000	0.12543	CGG		0.547	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		11	63	0	0	0	0.387290	0	11	63				
SEC61B	10952	broad.mit.edu	37	9	101992659	101992659	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:101992659G>C	ENST00000223641.4	+	4	307	c.244G>C	c.(244-246)Gct>Cct	p.A82P	SEC61B_ENST00000498603.1_Missense_Mutation_p.A28P	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	82					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCTGTTCATCGCTTCTGTATT	0.373																																						ENST00000498603.1																			0				kidney(1)|large_intestine(1)	2						c.(82-84)Gct>Cct		Sec61 beta subunit							295.0	272.0	280.0					9																	101992659		2203	4300	6503	SO:0001583	missense	10952				ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding	g.chr9:101992659G>C	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.244G>C	9.37:g.101992659G>C	ENSP00000223641:p.Ala82Pro					SEC61B_ENST00000223641.4_Missense_Mutation_p.A82P	p.A28P			P60468	SC61B_HUMAN			4	349	+		Acute lymphoblastic leukemia(62;0.0559)	82					P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	c.82G>C	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361699	0.95877	.	.	ENSG00000106803	ENST00000223641	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82882	-0.0237	8	0.52906	T	0.07	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	82	P60468	SC61B_HUMAN	P	82	.	ENSP00000223641:A82P	A	+	1	0	SEC61B	101032480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.242000	0.95408	2.767000	0.95098	0.650000	0.86243	GCT		0.373	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		8	401	0	0	0	0.307466	0	8	401				
BTN3A2	11118	broad.mit.edu	37	6	26370583	26370583	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:26370583G>T	ENST00000356386.2	+	5	655	c.467G>T	c.(466-468)gGt>gTt	p.G156V	BTN3A2_ENST00000527422.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G114V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G156V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G133V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G156V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	156					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAGTGAAGGGTTATGAGGAT	0.517																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(466-468)gGt>gTt		butyrophilin, subfamily 3, member A2							108.0	96.0	100.0					6																	26370583		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370583G>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.467G>T	6.37:g.26370583G>T	ENSP00000348751:p.Gly156Val					BTN3A2_ENST00000377708.2_Missense_Mutation_p.G156V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G114V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G133V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G156V	p.G156V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	655	+			156					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.467G>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312317	0.23908	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.11712	2.75;3.13;3.48;3.48;3.48;3.48;3.48;3.48	2.84	-2.15	0.07102	Immunoglobulin-like fold (1);	.	.	.	.	T	0.10465	0.0256	M	0.69185	2.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.11179	-1.0598	9	0.31617	T	0.26	.	4.261	0.10740	0.1312:0.0:0.3059:0.5629	.	133;156	F8W6E0;P78410	.;BT3A2_HUMAN	V	114;114;156;156;156;133;156;156;114	ENSP00000435952:G114V;ENSP00000434102:G114V;ENSP00000432138:G156V;ENSP00000348751:G156V;ENSP00000380140:G133V;ENSP00000366937:G156V;ENSP00000380152:G156V;ENSP00000442687:G114V	ENSP00000348751:G156V	G	+	2	0	BTN3A2	26478562	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.413000	0.02473	-0.327000	0.08551	0.405000	0.27470	GGT		0.517	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			7	146	1	0	2.7689e-08	0.248553	3.26248e-08	7	146				
TTN	7273	broad.mit.edu	37	2	179436612	179436612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:179436612C>T	ENST00000591111.1	-	276	69548	c.69324G>A	c.(69322-69324)tgG>tgA	p.W23108*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W15809*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W15876*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W24749*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W22181*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W15684*			Q8WZ42	TITIN_HUMAN	titin	23108	Ig-like 118.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTTATGCCAGGTTACAG	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(74245-74247)tgG>tgA		titin							72.0	76.0	74.0					2																	179436612		1910	4132	6042	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436612C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69324G>A	2.37:g.179436612C>T	ENSP00000465570:p.Trp23108*					TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W23108*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W15684*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W15876*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W15809*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W22181*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA	p.W24749*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74471	-			23108			Fibronectin type-III 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.74247G>A		.	.	.	.	.	.	.	.	.	.	C	63	74.208959	0.99992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	22181;15684;15876;15809;15682	.	ENSP00000340554:W15876X	W	-	3	0	TTN	179144858	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.770000	0.85390	2.890000	0.99128	0.650000	0.86243	TGG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	155	0	0	0	0.150653	0	4	155				
TARS	6897	broad.mit.edu	37	5	33455798	33455798	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:33455798G>A	ENST00000265112.3	+	6	993	c.682G>A	c.(682-684)Gca>Aca	p.A228T	TARS_ENST00000455217.2_Missense_Mutation_p.A261T|TARS_ENST00000541634.1_Missense_Mutation_p.A124T|TARS_ENST00000414361.2_Missense_Mutation_p.A107T|TARS_ENST00000502553.1_Missense_Mutation_p.A228T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	228					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.A228S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AACTTTACTGGCAATGTTTAA	0.373																																						ENST00000265112.3																			1	Substitution - Missense(1)	p.A228S(1)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(682-684)Gca>Aca		threonyl-tRNA synthetase	L-Threonine(DB00156)						63.0	66.0	65.0					5																	33455798		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33455798G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.682G>A	5.37:g.33455798G>A	ENSP00000265112:p.Ala228Thr					TARS_ENST00000541634.1_Missense_Mutation_p.A124T|TARS_ENST00000502553.1_Missense_Mutation_p.A228T|TARS_ENST00000455217.2_Missense_Mutation_p.A261T|TARS_ENST00000414361.2_Missense_Mutation_p.A107T	p.A228T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			6	993	+			228					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.682G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219108	0.58560	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	5.35	4.46	0.54185	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.090083	0.85682	D	0.000000	T	0.09379	0.0231	L	0.39020	1.185	0.29192	N	0.875795	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.001;0.002;0.001	T	0.06499	-1.0823	10	0.59425	D	0.04	-27.0648	15.9754	0.80060	0.0:0.1353:0.8647:0.0	.	107;261;124;228	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	T	228;228;124;261;107	ENSP00000424387:A228T;ENSP00000265112:A228T;ENSP00000438469:A124T;ENSP00000387710:A261T;ENSP00000394291:A107T	ENSP00000265112:A228T	A	+	1	0	TARS	33491555	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	6.725000	0.74752	1.251000	0.43983	-0.301000	0.09380	GCA		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		16	195	0	0	0	0.500413	0	16	195				
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A	rs202189737		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403																																						ENST00000390673.2																			1	Substitution - Missense(1)	p.R210W(1)	lung(1)	breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(628-630)Cgg>Tgg		taste receptor, type 2, member 19							146.0	144.0	144.0					12																	11174543		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174543G>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.628C>T	12.37:g.11174543G>A	ENSP00000375091:p.Arg210Trp					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.R210W	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	676	-			210					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.628C>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664227	0.29604	.	.	ENSG00000212124	ENST00000390673	T	0.00873	5.59	2.69	0.739	0.18324	.	2.120730	0.03861	U	0.273979	T	0.03390	0.0098	L	0.58101	1.795	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.36065	-0.9763	10	0.87932	D	0	.	3.8416	0.08917	0.2604:0.1987:0.5409:0.0	.	210	P59542	T2R19_HUMAN	W	210	ENSP00000375091:R210W	ENSP00000375091:R210W	R	-	1	2	TAS2R19	11065810	0.012000	0.17670	0.002000	0.10522	0.028000	0.11728	1.761000	0.38440	-0.004000	0.14419	-1.111000	0.02071	CGG		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		7	250	0	0	0	0.248553	0	7	250				
RRAGC	64121	broad.mit.edu	37	1	39322630	39322630	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:39322630A>C	ENST00000373001.3	-	2	538	c.362T>G	c.(361-363)aTg>aGg	p.M121R		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAAAAGTCCATTTGCCCAGG	0.398																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(361-363)aTg>aGg		Ras-related GTP binding C							140.0	141.0	141.0					1																	39322630		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39322630A>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.362T>G	1.37:g.39322630A>C	ENSP00000362092:p.Met121Arg						p.M121R	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			2	538	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	121						Missense_Mutation	SNP	ENST00000373001.3	37	c.362T>G	CCDS430.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412960	0.62511	.	.	ENSG00000116954	ENST00000373001	T	0.79749	-1.3	5.78	5.78	0.91487	.	0.046813	0.85682	D	0.000000	T	0.69251	0.3090	N	0.12182	0.205	0.58432	D	0.999999	B;B;B	0.26975	0.165;0.039;0.081	B;B;B	0.32805	0.075;0.153;0.034	T	0.66236	-0.5974	10	0.28530	T	0.3	-20.016	16.1027	0.81194	1.0:0.0:0.0:0.0	.	87;55;121	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	R	121	ENSP00000362092:M121R	ENSP00000362092:M121R	M	-	2	0	RRAGC	39095217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.198000	0.70561	0.455000	0.32223	ATG		0.398	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		62	177	0	0	0	0.870114	0	62	177				
ZFHX4	79776	broad.mit.edu	37	8	77768487	77768487	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:77768487C>T	ENST00000521891.2	+	10	9778	c.9330C>T	c.(9328-9330)ccC>ccT	p.P3110P	ZFHX4_ENST00000518282.1_Silent_p.P3084P|ZFHX4_ENST00000050961.6_Silent_p.P3065P|ZFHX4_ENST00000455469.2_Silent_p.P3065P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3065	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3094P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTTCTCCCCGGAATGAACG	0.527										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - coding silent(1)	p.P3094P(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9328-9330)ccC>ccT		zinc finger homeobox 4							43.0	44.0	43.0					8																	77768487		1944	4145	6089	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768487C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9330C>T	8.37:g.77768487C>T		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.P3084P|ZFHX4_ENST00000050961.6_Silent_p.P3065P|ZFHX4_ENST00000455469.2_Silent_p.P3065P	p.P3110P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9778	+			3065			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9330C>T	CCDS47878.2																																																																																				0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	97	0	0	0	0.361761	0	10	97				
SIL1	64374	broad.mit.edu	37	5	138356974	138356974	+	Missense_Mutation	SNP	T	T	C	rs150156151		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:138356974T>C	ENST00000394817.2	-	7	792	c.653A>G	c.(652-654)aAt>aGt	p.N218S	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.N218S|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.N225S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	218	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCTGCGCATTGTCCATCTG	0.502									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(652-654)aAt>aGt		SIL1 nucleotide exchange factor		T	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	94.0	68.0	77.0		653,653	5.6	1.0	5	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense	SIL1	NM_001037633.1,NM_022464.4	46,46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	218/462,218/462	138356974	1,13005	2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138356974T>C	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.653A>G	5.37:g.138356974T>C	ENSP00000378294:p.Asn218Ser					SIL1_ENST00000265195.5_Missense_Mutation_p.N218S|CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.N225S	p.N218S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	792	-			218			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.653A>G	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445541	0.84101	2.27E-4	0.0	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	M	0.87097	2.86	0.52099	D	0.999946	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.971;1.0;0.997	T	0.74688	-0.3581	10	0.23891	T	0.37	-19.5109	15.7472	0.77955	0.0:0.0:0.0:1.0	.	24;225;218	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	218;218;133;225;24	ENSP00000378294:N218S;ENSP00000265195:N218S;ENSP00000426858:N225S;ENSP00000425136:N24S	ENSP00000265195:N218S	N	-	2	0	SIL1	138384873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.440000	0.73435	2.248000	0.74166	0.460000	0.39030	AAT		0.502	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		20	35	0	0	0	0.575678	0	20	35				
FABP3	2170	broad.mit.edu	37	1	31840248	31840248	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:31840248G>A	ENST00000373713.2	-	3	401	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	114					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ACCAGGATGAGTTTTCCATCA	0.478																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(340-342)Ctc>Ttc		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)							236.0	224.0	228.0					1																	31840248		2203	4300	6503	SO:0001583	missense	2170				negative regulation of cell proliferation			g.chr1:31840248G>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.340C>T	1.37:g.31840248G>A	ENSP00000362817:p.Leu114Phe					FABP3_ENST00000497275.1_5'UTR	p.L114F	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	3	401	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	114					B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	c.340C>T	CCDS342.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699670	0.68501	.	.	ENSG00000121769	ENST00000373713	T	0.13196	2.61	5.03	5.03	0.67393	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.84219	2.685	0.80722	D	1	D	0.62365	0.991	D	0.70935	0.971	T	0.21793	-1.0235	10	0.87932	D	0	.	13.258	0.60089	0.0787:0.0:0.9213:0.0	.	114	P05413	FABPH_HUMAN	F	114	ENSP00000362817:L114F	ENSP00000362817:L114F	L	-	1	0	FABP3	31612835	0.977000	0.34250	1.000000	0.80357	0.577000	0.36160	1.660000	0.37397	2.771000	0.95319	0.563000	0.77884	CTC		0.478	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		101	265	0	0	0	0.870114	0	101	265				
DENND4C	55667	broad.mit.edu	37	9	19300201	19300201	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:19300201A>T	ENST00000380432.2	+	5	508	c.475A>T	c.(475-477)Acc>Tcc	p.T159S	DENND4C_ENST00000434457.2_Missense_Mutation_p.T395S|DENND4C_ENST00000602925.1_Missense_Mutation_p.T395S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	159	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAACTTTAGCACCTTGCTAAT	0.368																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(475-477)Acc>Tcc		DENN/MADD domain containing 4C							166.0	148.0	154.0					9																	19300201		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19300201A>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.475A>T	9.37:g.19300201A>T	ENSP00000369797:p.Thr159Ser					DENND4C_ENST00000434457.2_Missense_Mutation_p.T395S|DENND4C_ENST00000602925.1_Missense_Mutation_p.T395S|DENND4C_ENST00000307015.9_5'UTR	p.T159S	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			5	508	+			159			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.475A>T		.	.	.	.	.	.	.	.	.	.	A	15.68	2.905047	0.52333	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.31	4.15	0.48705	DENN (3);	0.046925	0.85682	N	0.000000	T	0.41003	0.1140	N	0.13168	0.305	0.80722	D	1	B	0.23442	0.085	B	0.29176	0.099	T	0.21861	-1.0233	9	0.36615	T	0.2	-7.9452	11.3175	0.49401	0.8596:0.0:0.0:0.1404	.	159	Q5VZ89	DEN4C_HUMAN	S	159	.	ENSP00000369802:T159S	T	+	1	0	DENND4C	19290201	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.241000	0.78201	0.994000	0.38892	0.397000	0.26171	ACC		0.368	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		13	187	0	0	0	0.457914	0	13	187				
E2F5	1875	broad.mit.edu	37	8	86127184	86127184	+	IGR	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:86127184T>A	ENST00000416274.2	+	0	1728				E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000417663.2_Missense_Mutation_p.K66I|C8orf59_ENST00000421308.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518091.1_Missense_Mutation_p.K66I|C8orf59_ENST00000524353.1_Missense_Mutation_p.K66I|C8orf59_ENST00000458398.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000431163.2_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGAAATGCTTTTTGCGAAATG	0.294																																						ENST00000417663.2																			0											c.(196-198)aAa>aTa		chromosome 8 open reading frame 59							49.0	49.0	49.0					8																	86127184		1809	4067	5876	SO:0001628	intergenic_variant	401466							g.chr8:86127184T>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127184T>A						E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000458398.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518091.1_Missense_Mutation_p.K66I|C8orf59_ENST00000421308.2_Missense_Mutation_p.K66I|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000524353.1_Missense_Mutation_p.K66I	p.K66I	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			3	268	-			66					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.197A>T	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.645012	0.47258	.	.	ENSG00000176731	ENST00000417663;ENST00000421308;ENST00000524353;ENST00000518091;ENST00000458398	.	.	.	5.75	-6.57	0.01842	.	.	.	.	.	T	0.40645	0.1125	M	0.64997	1.995	0.19300	N	0.999978	P	0.46512	0.879	P	0.46253	0.509	T	0.48468	-0.9033	8	0.87932	D	0	-4.6862	9.2685	0.37657	0.0:0.4189:0.1044:0.4766	.	66	E5RFW5	.	I	66	.	ENSP00000416245:K66I	K	-	2	0	C8orf59	86314436	0.903000	0.30736	0.000000	0.03702	0.369000	0.29798	0.233000	0.17911	-1.597000	0.01609	0.533000	0.62120	AAA		0.294	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		9	31	0	0	0	0.361761	0	9	31				
ZNF417	147687	broad.mit.edu	37	19	58420413	58420413	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:58420413C>T	ENST00000312026.5	-	3	1397	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ZNF417_ENST00000595559.1_Silent_p.K410K|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.K212K	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCCACATTCCTTGCACTCAT	0.453																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1231-1233)aaG>aaA		zinc finger protein 417							106.0	98.0	101.0					19																	58420413		2203	4298	6501	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420413C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1233G>A	19.37:g.58420413C>T						ZNF417_ENST00000595559.1_Silent_p.K410K|ZNF417_ENST00000536263.1_Silent_p.K212K|CTD-2583A14.9_ENST00000602124.1_Intron	p.K411K	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1397	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	411					B4DEU1	Silent	SNP	ENST00000312026.5	37	c.1233G>A	CCDS12965.1																																																																																				0.453	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		6	177	0	0	0	0.248553	0	6	177				
RNF213	57674	broad.mit.edu	37	17	78338338	78338338	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338338C>T	ENST00000582970.1	+	42	11999	c.11856C>T	c.(11854-11856)gtC>gtT	p.V3952V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V4001V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2025V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3952					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGAGCACGTCTTCTTACTAG	0.577																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11854-11856)gtC>gtT		ring finger protein 213							71.0	67.0	69.0					17																	78338338		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78338338C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11856C>T	17.37:g.78338338C>T						CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2025V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.V4001V	p.V3952V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		42	11999	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11856C>T	CCDS58606.1																																																																																				0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	63	0	0	0	0.435327	0	13	63				
RPRD2	23248	broad.mit.edu	37	1	150443141	150443141	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:150443141A>G	ENST00000369068.4	+	11	1721	c.1717A>G	c.(1717-1719)Ata>Gta	p.I573V	RPRD2_ENST00000539519.1_Missense_Mutation_p.I547V|RPRD2_ENST00000401000.4_Missense_Mutation_p.I547V|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	573	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTCTCTACCATAAAGGGAAG	0.478																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1639-1641)Ata>Gta		regulation of nuclear pre-mRNA domain containing 2							67.0	62.0	64.0					1																	150443141		1903	4127	6030	SO:0001583	missense	23248						protein binding	g.chr1:150443141A>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1717A>G	1.37:g.150443141A>G	ENSP00000358064:p.Ile573Val					RPRD2_ENST00000369068.4_Missense_Mutation_p.I573V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.I547V	p.I547V			Q5VT52	RPRD2_HUMAN			10	1704	+			573			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1639A>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	2.731	-0.264429	0.05754	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.39406	1.08;1.1;1.08	4.86	-7.17	0.01511	.	0.807531	0.11120	N	0.597516	T	0.03564	0.0102	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38908	-0.9639	10	0.06625	T	0.88	1.8925	8.7017	0.34329	0.2711:0.0918:0.5467:0.0904	.	547;573;547	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	V	547;547;573	ENSP00000383785:I547V;ENSP00000445482:I547V;ENSP00000358064:I573V	ENSP00000358064:I573V	I	+	1	0	RPRD2	148709765	0.000000	0.05858	0.018000	0.16275	0.840000	0.47671	-2.876000	0.00717	-1.364000	0.02161	0.383000	0.25322	ATA		0.478	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		4	65	0	0	0	0.150653	0	4	65				
TSR1	55720	broad.mit.edu	37	17	2234293	2234293	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:2234293G>C	ENST00000301364.5	-	9	2686	c.1607C>G	c.(1606-1608)aCt>aGt	p.T536S	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	536					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCTTTTCCTAGTGTTAGTAAA	0.393																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1606-1608)aCt>aGt		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							136.0	125.0	128.0					17																	2234293		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2234293G>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1607C>G	17.37:g.2234293G>C	ENSP00000301364:p.Thr536Ser						p.T536S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			9	2686	-			536					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.1607C>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048276	0.75846	.	.	ENSG00000167721	ENST00000301364	T	0.18174	2.23	4.96	3.99	0.46301	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.048207	0.85682	D	0.000000	T	0.30324	0.0761	L	0.51853	1.615	0.58432	D	0.999998	D	0.54601	0.967	P	0.58391	0.838	T	0.01508	-1.1337	10	0.36615	T	0.2	-12.205	14.521	0.67851	0.0:0.1474:0.8526:0.0	.	536	Q2NL82	TSR1_HUMAN	S	536	ENSP00000301364:T536S	ENSP00000301364:T536S	T	-	2	0	TSR1	2181043	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.541000	0.67212	1.077000	0.40990	-0.271000	0.10264	ACT		0.393	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		14	130	0	0	0	0.435327	0	14	130				
SUGCT	79783	broad.mit.edu	37	7	40498705	40498705	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:40498705G>T	ENST00000335693.4	+	11	938	c.915G>T	c.(913-915)ttG>ttT	p.L305F	C7orf10_ENST00000401647.2_Missense_Mutation_p.L257F|C7orf10_ENST00000309930.5_Missense_Mutation_p.L305F	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		305					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTTAGATCTTGGATTTGCCTG	0.348																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(913-915)ttG>ttT		chromosome 7 open reading frame 10							44.0	43.0	43.0					7																	40498705		1803	4067	5870	SO:0001583	missense	79783						transferase activity	g.chr7:40498705G>T																												ENST00000335693.4:c.915G>T	7.37:g.40498705G>T	ENSP00000338475:p.Leu305Phe					C7orf10_ENST00000335693.4_Missense_Mutation_p.L305F|C7orf10_ENST00000401647.2_Missense_Mutation_p.L257F	p.L305F	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			11	939	+			305					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.915G>T	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.27|16.27	3.077247|3.077247	0.55753|0.55753	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.88201|.	-2.35;0.32;0.32|.	5.27|5.27	3.46|3.46	0.39613|0.39613	CoA-transferase family III domain (2);|.	0.160562|.	0.42420|.	D|.	0.000709|.	T|T	0.72162|0.72162	0.3426|0.3426	M|M	0.82433|0.82433	2.59|2.59	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.994;0.997;0.998|.	D;D;D|.	0.72625|.	0.951;0.951;0.978|.	T|T	0.70883|0.70883	-0.4751|-0.4751	10|5	0.54805|.	T|.	0.06|.	-6.027|-6.027	8.4333|8.4333	0.32771|0.32771	0.1827:0.0:0.8173:0.0|0.1827:0.0:0.8173:0.0	.|.	257;305;268|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	F|L	305;257;305|300	ENSP00000312054:L305F;ENSP00000385222:L257F;ENSP00000338475:L305F|.	ENSP00000312054:L305F|.	L|W	+|+	3|2	2|0	C7orf10|C7orf10	40465230|40465230	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	2.197000|2.197000	0.42696|0.42696	0.717000|0.717000	0.32145|0.32145	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.348	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			35	99	1	0	9.17885e-22	0.779181	1.14104e-21	35	99				
TRPV5	56302	broad.mit.edu	37	7	142630518	142630518	+	Missense_Mutation	SNP	G	G	T	rs372922914		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:142630518G>T	ENST00000265310.1	-	1	387	c.39C>A	c.(37-39)agC>agA	p.S13R	TRPV5_ENST00000442623.1_Missense_Mutation_p.S13R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	13					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTGGAGTTGGCTCCCGGGCC	0.517																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(37-39)agC>agA		transient receptor potential cation channel, subfamily V, member 5							113.0	117.0	116.0					7																	142630518		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142630518G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.39C>A	7.37:g.142630518G>T	ENSP00000265310:p.Ser13Arg					TRPV5_ENST00000442623.1_Missense_Mutation_p.S13R	p.S13R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			1	387	-	Melanoma(164;0.059)		13					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.39C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.163011	0.09287	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.79141	-1.24;-1.24;-0.83	4.44	1.3	0.21679	.	2.864360	0.01891	N	0.038584	T	0.59238	0.2179	N	0.14661	0.345	0.09310	N	1	B;B	0.30686	0.073;0.29	B;B	0.25987	0.065;0.06	T	0.50874	-0.8776	10	0.24483	T	0.36	-8.4582	2.7878	0.05379	0.2484:0.0:0.5085:0.2431	.	13;13	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	R	13;7;13	ENSP00000265310:S13R;ENSP00000406361:S7R;ENSP00000406572:S13R	ENSP00000265310:S13R	S	-	3	2	TRPV5	142340640	0.059000	0.20769	0.048000	0.18961	0.021000	0.10359	0.356000	0.20181	0.471000	0.27319	0.462000	0.41574	AGC		0.517	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	160	1	0	3.86212e-05	0.361761	4.32494e-05	10	160				
KCNV2	169522	broad.mit.edu	37	9	2719000	2719000	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:2719000G>A	ENST00000382082.3	+	1	1499	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	421					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATCGCCATGGGCATCTTCAC	0.637																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1261-1263)Ggc>Agc		potassium channel, subfamily V, member 2							76.0	65.0	69.0					9																	2719000		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2719000G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1261G>A	9.37:g.2719000G>A	ENSP00000371514:p.Gly421Ser						p.G421S	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1499	+			421					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.1261G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785721	0.70337	.	.	ENSG00000168263	ENST00000382082	D	0.98455	-4.94	5.22	5.22	0.72569	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.75615	2.305	0.80722	D	1	D	0.65815	0.995	P	0.61397	0.888	D	0.99831	1.1054	10	0.72032	D	0.01	.	18.8074	0.92043	0.0:0.0:1.0:0.0	.	421	Q8TDN2	KCNV2_HUMAN	S	421	ENSP00000371514:G421S	ENSP00000371514:G421S	G	+	1	0	KCNV2	2709000	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.434000	0.82447	0.563000	0.77884	GGC		0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		11	75	0	0	0	0.361761	0	11	75				
NCOA4	8031	broad.mit.edu	37	10	51584772	51584772	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:51584772C>G	ENST00000443446.1	+	8	1100	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	NCOA4_ENST00000430396.2_Missense_Mutation_p.Q191E|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q307E|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q291E|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q291E|NCOA4_ENST00000414907.2_Missense_Mutation_p.Q125E|NCOA4_ENST00000374082.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000452682.1_Missense_Mutation_p.Q307E	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	291					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGTTGGAGATCAAGAGCTTCC	0.438			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(919-921)Caa>Gaa		nuclear receptor coactivator 4							90.0	91.0	91.0					10																	51584772		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584772C>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.871C>G	10.37:g.51584772C>G	ENSP00000390713:p.Gln291Glu					NCOA4_ENST00000414907.2_Missense_Mutation_p.Q125E|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q307E|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q291E|NCOA4_ENST00000443446.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q291E|NCOA4_ENST00000374082.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000430396.2_Missense_Mutation_p.Q191E	p.Q307E	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1171	+			291					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.919C>G	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.138|1.138	-0.650306|-0.650306	0.03506|0.03506	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.29917|.	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55|.	6.03|6.03	-6.54|-6.54	0.01860|0.01860	.|.	1.401150|.	0.04397|.	N|.	0.363556|.	T|.	0.08223|.	0.0205|.	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.0|.	T|.	0.32161|.	-0.9917|.	10|.	0.15952|.	T|.	0.53|.	-30.1272|-30.1272	5.6528|5.6528	0.17627|0.17627	0.2343:0.1822:0.4724:0.1111|0.2343:0.1822:0.4724:0.1111	.|.	191;307;307;291|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	E|X	307;307;191;291;125;291;291;291|206	ENSP00000405146:Q307E;ENSP00000395465:Q307E;ENSP00000393053:Q191E;ENSP00000363200:Q291E;ENSP00000411018:Q125E;ENSP00000344552:Q291E;ENSP00000363195:Q291E;ENSP00000390713:Q291E|.	ENSP00000344552:Q291E|.	Q|S	+|+	1|2	0|0	NCOA4|NCOA4	51254778|51254778	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.109000|0.109000	0.19521|0.19521	-1.915000|-1.915000	0.01578|0.01578	-1.781000|-1.781000	0.01277|0.01277	-0.867000|-0.867000	0.03001|0.03001	CAA|TCA		0.438	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		4	162	0	0	0	0.150653	0	4	162				
HGD	3081	broad.mit.edu	37	3	120365175	120365175	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:120365175G>A	ENST00000283871.5	-	9	1047	c.588C>T	c.(586-588)acC>acT	p.T196T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	196					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGTAGCCCCTGGTCTCCTCAA	0.463																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25	GRCh37	CD002908	HGD	D		c.(586-588)acC>acT		homogentisate 1,2-dioxygenase							125.0	116.0	119.0					3																	120365175		2203	4300	6503	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365175G>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.588C>T	3.37:g.120365175G>A							p.T196T	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1047	-			196					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.588C>T	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266795	0.23136	.	.	ENSG00000113924	ENST00000475447;ENST00000494453	.	.	.	5.73	2.97	0.34412	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48364	-0.9042	4	.	.	.	-4.6812	7.5585	0.27837	0.1521:0.1368:0.7111:0.0	.	.	.	.	L	40;3	.	.	P	-	2	0	HGD	121847865	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.769000	0.38522	0.350000	0.24002	-0.176000	0.13171	CCA		0.463	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			94	65	0	0	0	0.870114	0	94	65				
C1QTNF9B	387911	broad.mit.edu	37	13	24470966	24470966	+	Missense_Mutation	SNP	C	C	T	rs573182698	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:24470966C>T	ENST00000382140.2	-	3	220	c.160G>A	c.(160-162)Gat>Aat	p.D54N	C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.D54N|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	54	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTACCTGCATCGCCTTTGTCA	0.552													C|||	3	0.000599042	0.0023	0.0	5008	,	,		24373	0.0		0.0	False		,,,				2504	0.0					ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(160-162)Gat>Aat		C1q and tumor necrosis factor related protein 9B							119.0	109.0	112.0					13																	24470966		2203	4300	6503	SO:0001583	missense	387911					collagen		g.chr13:24470966C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.160G>A	13.37:g.24470966C>T	ENSP00000371575:p.Asp54Asn					C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.D54N|C1QTNF9B-AS1_ENST00000417034.1_RNA	p.D54N	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			1	228	-			54			Collagen-like 1.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.160G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.777246	0.49786	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	T;D;D;T	0.94232	2.33;-3.38;-3.38;2.33	3.99	3.14	0.36123	.	0.115281	0.56097	N	0.000024	D	0.92420	0.7594	L	0.41824	1.3	0.39521	D	0.968516	D;B	0.61697	0.99;0.056	P;B	0.55055	0.767;0.029	D	0.91178	0.4974	10	0.45353	T	0.12	.	11.4738	0.50286	0.0:0.9105:0.0:0.0894	.	54;54	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	N	54	ENSP00000371580:D54N;ENSP00000371572:D54N;ENSP00000371575:D54N;ENSP00000371489:D54N	ENSP00000371489:D54N	D	-	1	0	C1QTNF9B	23368966	0.997000	0.39634	0.783000	0.31826	0.208000	0.24298	3.738000	0.55067	0.684000	0.31448	0.298000	0.19748	GAT		0.552	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		6	132	0	0	0	0.248553	0	6	132				
OR2M4	26245	broad.mit.edu	37	1	248402903	248402903	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:248402903G>A	ENST00000306687.1	+	1	673	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	225					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTCGAGCCGTCATCCACAT	0.473																																						ENST00000306687.1																			1	Substitution - Missense(1)	p.V225I(1)	endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(673-675)Gtc>Atc		olfactory receptor, family 2, subfamily M, member 4							92.0	87.0	89.0					1																	248402903		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402903G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.673G>A	1.37:g.248402903G>A	ENSP00000306688:p.Val225Ile						p.V225I	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	673	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		225					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.673G>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	7.574	0.667423	0.14710	.	.	ENSG00000171180	ENST00000306687	T	0.00224	8.51	3.34	-0.856	0.10697	GPCR, rhodopsin-like superfamily (1);	0.196433	0.24676	N	0.036517	T	0.00109	0.0003	N	0.25647	0.755	0.09310	N	1	P	0.40970	0.734	B	0.40199	0.322	T	0.43343	-0.9397	10	0.33940	T	0.23	.	7.9729	0.30138	0.5189:0.0:0.4811:0.0	.	225	Q96R27	OR2M4_HUMAN	I	225	ENSP00000306688:V225I	ENSP00000306688:V225I	V	+	1	0	OR2M4	246469526	0.000000	0.05858	0.014000	0.15608	0.008000	0.06430	0.875000	0.28079	-0.048000	0.13401	-0.324000	0.08512	GTC		0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		7	70	0	0	0	0.248553	0	7	70				
XIRP2	129446	broad.mit.edu	37	2	168106123	168106123	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168106123C>A	ENST00000409195.1	+	9	8310	c.8221C>A	c.(8221-8223)Caa>Aaa	p.Q2741K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2566					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTGATGTTCAAACCTTTAC	0.338																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8221-8223)Caa>Aaa		xin actin-binding repeat containing 2							65.0	62.0	63.0					2																	168106123		1858	4087	5945	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106123C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8221C>A	2.37:g.168106123C>A	ENSP00000386840:p.Gln2741Lys					XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519K	p.Q2741K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8310	+			2566					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8221C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068635	0.36470	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02709	4.19;4.19;4.19	5.98	5.98	0.97165	.	0.602886	0.17429	N	0.174536	T	0.10508	0.0257	M	0.67953	2.075	0.28586	N	0.909891	P;P;P	0.52316	0.919;0.952;0.952	P;P;P	0.51701	0.477;0.677;0.677	T	0.01149	-1.1436	10	0.44086	T	0.13	-8.6361	19.2148	0.93772	0.0:1.0:0.0:0.0	.	2566;2566;2519	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2741;2741;2519;155	ENSP00000386840:Q2741K;ENSP00000295237:Q2741K;ENSP00000387255:Q2519K	ENSP00000295237:Q2741K	Q	+	1	0	XIRP2	167814369	0.996000	0.38824	0.218000	0.23776	0.078000	0.17371	4.492000	0.60334	2.838000	0.97847	0.655000	0.94253	CAA		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	130	1	0	1.58986e-06	0.361761	1.83342e-06	11	130				
ZNF75D	7626	broad.mit.edu	37	X	134427679	134427679	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:134427679C>G	ENST00000370766.3	-	3	3097	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E130Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	130	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCATCAGGCTCCCTCTGCAAG	0.453																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(388-390)Gag>Cag		zinc finger protein 75D							93.0	92.0	92.0					X																	134427679		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427679C>G	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.388G>C	X.37:g.134427679C>G	ENSP00000359802:p.Glu130Gln					ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E130Q	p.E130Q	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			3	3097	-			130			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.388G>C	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974055	0.18736	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.04551	3.6;3.6	3.52	-6.48	0.01896	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.04543	0.0124	L	0.56396	1.775	0.09310	N	1	B;B	0.23442	0.085;0.025	B;B	0.22152	0.038;0.038	T	0.41142	-0.9525	9	0.17832	T	0.49	.	7.3301	0.26577	0.1231:0.5894:0.0:0.2874	.	130;130	P51815;A6NK62	ZN75D_HUMAN;.	Q	130	ENSP00000359802:E130Q;ENSP00000359800:E130Q	ENSP00000359800:E130Q	E	-	1	0	ZNF75D	134255345	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	-0.225000	0.09151	-1.336000	0.02238	-0.513000	0.04457	GAG		0.453	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		56	34	0	0	0	0.870114	0	56	34				
VPS13B	157680	broad.mit.edu	37	8	100155309	100155309	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:100155309G>C	ENST00000358544.2	+	13	1870	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	VPS13B_ENST00000355155.1_Missense_Mutation_p.D587H|VPS13B_ENST00000357162.2_Missense_Mutation_p.D587H|VPS13B_ENST00000395996.1_Missense_Mutation_p.D587H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	587					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTCGTTTGGATAGCAGTGC	0.388																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1759-1761)Gat>Cat		vacuolar protein sorting 13 homolog B (yeast)							146.0	144.0	145.0					8																	100155309		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100155309G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1759G>C	8.37:g.100155309G>C	ENSP00000351346:p.Asp587His					VPS13B_ENST00000357162.2_Missense_Mutation_p.D587H|VPS13B_ENST00000358544.2_Missense_Mutation_p.D587H|VPS13B_ENST00000355155.1_Missense_Mutation_p.D587H	p.D587H			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		13	1870	+	Breast(36;3.73e-07)		587					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1759G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	8.117	0.780178	0.16120	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.77358	-1.09;-0.38;-0.38;-0.09	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.67552	0.2905	N	0.17082	0.46	0.49687	D	0.999815	B;B;B;B;B	0.25390	0.125;0.125;0.076;0.047;0.047	B;B;B;B;B	0.26202	0.067;0.067;0.03;0.039;0.039	T	0.63161	-0.6699	10	0.37606	T	0.19	.	19.2399	0.93877	0.0:0.0:1.0:0.0	.	587;587;587;587;587	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	H	587	ENSP00000347281:D587H;ENSP00000349685:D587H;ENSP00000351346:D587H;ENSP00000379318:D587H	ENSP00000347281:D587H	D	+	1	0	VPS13B	100224485	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.562000	0.67346	2.531000	0.85337	0.591000	0.81541	GAT		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	266	0	0	0	0.361761	0	10	266				
ASH1L	55870	broad.mit.edu	37	1	155450127	155450127	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:155450127C>T	ENST00000368346.3	-	3	3173	c.2534G>A	c.(2533-2535)aGg>aAg	p.R845K	ASH1L_ENST00000392403.3_Missense_Mutation_p.R845K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	845					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTAAAGTCCTTTTAGGTGG	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2533-2535)aGg>aAg		ash1 (absent, small, or homeotic)-like (Drosophila)							89.0	97.0	94.0					1																	155450127		2202	4300	6502	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450127C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2534G>A	1.37:g.155450127C>T	ENSP00000357330:p.Arg845Lys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R845K	p.R845K			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3173	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		845					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2534G>A		.	.	.	.	.	.	.	.	.	.	C	16.11	3.030314	0.54790	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88431	-2.38;-2.38	5.52	5.52	0.82312	.	0.054756	0.85682	D	0.000000	T	0.71467	0.3343	N	0.08118	0	0.80722	D	1	P;P	0.40834	0.61;0.73	B;P	0.44394	0.262;0.448	T	0.76372	-0.2983	10	0.02654	T	1	.	19.2288	0.93829	0.0:1.0:0.0:0.0	.	845;845	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	845	ENSP00000357330:R845K;ENSP00000376204:R845K	ENSP00000357330:R845K	R	-	2	0	ASH1L	153716751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.635000	0.61332	2.878000	0.98634	0.650000	0.86243	AGG		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	269	0	0	0	0.278610	0	8	269				
ADAMTSL3	57188	broad.mit.edu	37	15	84651068	84651068	+	Silent	SNP	G	G	T	rs139222116		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:84651068G>T	ENST00000286744.5	+	21	2912	c.2688G>T	c.(2686-2688)ccG>ccT	p.P896P	ADAMTSL3_ENST00000567476.1_Silent_p.P896P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	896	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P896P(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAGGGTCCGCAGATCCTCA	0.403																																						ENST00000286744.5																			1	Substitution - coding silent(1)	p.P896P(1)	breast(1)	NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2686-2688)ccG>ccT		ADAMTS-like 3							108.0	98.0	102.0					15																	84651068		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651068G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2688G>T	15.37:g.84651068G>T						ADAMTSL3_ENST00000567476.1_Silent_p.P896P	p.P896P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	2912	+			896			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2688G>T	CCDS10326.1																																																																																				0.403	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		9	97	1	0	1.12685e-05	0.307466	1.2724e-05	9	97				
NDUFA12	55967	broad.mit.edu	37	12	95365236	95365236	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95365236G>A	ENST00000327772.2	-	4	507	c.418C>T	c.(418-420)Cct>Tct	p.P140S	NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547986.1_3'UTR|NDUFA12_ENST00000547157.1_Missense_Mutation_p.T43I	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	140					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						GGTGTTGAAGGTGGGATCCAC	0.358																																						ENST00000327772.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(418-420)Cct>Tct		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	NADH(DB00157)						157.0	147.0	150.0					12																	95365236		2203	4300	6503	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95365236G>A	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.418C>T	12.37:g.95365236G>A	ENSP00000330737:p.Pro140Ser					NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547157.1_Missense_Mutation_p.T43I|NDUFA12_ENST00000547986.1_3'UTR	p.P140S	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN			4	507	-			140					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.418C>T	CCDS9050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.945079|2.945079	0.53079|0.53079	.|.	.|.	ENSG00000184752|ENSG00000184752	ENST00000327772|ENST00000547157	T|.	0.41400|.	1.0|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74405|0.74405	0.3712|0.3712	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	D|.	0.63381|.	0.914|.	T|T	0.76432|0.76432	-0.2961|-0.2961	10|6	0.26408|0.87932	T|D	0.33|0	-21.3561|-21.3561	19.3015|19.3015	0.94145|0.94145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	140|.	Q9UI09|.	NDUAC_HUMAN|.	S|I	140|43	ENSP00000330737:P140S|.	ENSP00000330737:P140S|ENSP00000448846:T43I	P|T	-|-	1|2	0|0	NDUFA12|NDUFA12	93889367|93889367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.432000|8.432000	0.90288|0.90288	2.552000|2.552000	0.86080|0.86080	0.561000|0.561000	0.74099|0.74099	CCT|ACC		0.358	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		15	148	0	0	0	0.557998	0	15	148				
CACNA1S	779	broad.mit.edu	37	1	201013550	201013550	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201013550G>T	ENST00000362061.3	-	39	4929	c.4703C>A	c.(4702-4704)cCc>cAc	p.P1568H	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1568					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGATCTCGGGGGCTGCCTC	0.602																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4702-4704)cCc>cAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						68.0	62.0	64.0					1																	201013550		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201013550G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4703C>A	1.37:g.201013550G>T	ENSP00000355192:p.Pro1568His					CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549H	p.P1568H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			39	4929	-			1568					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4703C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.250403	0.80024	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97620	-4.46;-4.37	4.89	4.89	0.63831	.	23.960200	0.00166	N	0.000010	D	0.98658	0.9550	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	D	0.92040	0.5640	10	0.72032	D	0.01	.	18.0493	0.89343	0.0:0.0:1.0:0.0	.	1568	Q13698	CAC1S_HUMAN	H	1568;1549	ENSP00000355192:P1568H;ENSP00000356307:P1549H	ENSP00000355192:P1568H	P	-	2	0	CACNA1S	199280173	1.000000	0.71417	0.963000	0.40424	0.721000	0.41392	9.417000	0.97391	2.256000	0.74724	0.555000	0.69702	CCC		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	117	1	0	8.12818e-05	0.248553	8.99077e-05	5	117				
MALAT1	378938	broad.mit.edu	37	11	65271029	65271029	+	lincRNA	SNP	A	A	G	rs374397871		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:65271029A>G	ENST00000534336.1	+	0	5797					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAAAATTTACATGTTGTGATG	0.289																																						ENST00000534336.1																			0																				124.0	126.0	125.0					11																	65271029		874	1988	2862			378938							g.chr11:65271029A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271029A>G								NR_002819.2						0	5797	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.289	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		40	150	0	0	0	0.834066	0	40	150				
ADAM21P1	145241	broad.mit.edu	37	14	70712774	70712774	+	RNA	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:70712774G>C	ENST00000530196.1	-	0	1744					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GTTTCCCTGAGAGTTGATTTC	0.383																																						ENST00000530196.1																			0																																																			145241							g.chr14:70712774G>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712774G>C								NR_003951.1						0	1744	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.383	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		124	328	0	0	0	0.870114	0	124	328				
BRF1	2972	broad.mit.edu	37	14	105686450	105686450	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:105686450C>T	ENST00000546474.1	-	12	16292	c.1333G>A	c.(1333-1335)Ggt>Agt	p.G445S	BRF1_ENST00000446501.2_Missense_Mutation_p.G207S|BRF1_ENST00000440513.3_Missense_Mutation_p.G330S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.G330S|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.G418S|BRF1_ENST00000392557.4_Missense_Mutation_p.G241S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	445					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCAGCTCACCGTCTCCTGAA	0.627																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1333-1335)Ggt>Agt		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							163.0	112.0	129.0					14																	105686450		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105686450C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1333G>A	14.37:g.105686450C>T	ENSP00000448323:p.Gly445Ser					BRF1_ENST00000446501.2_Missense_Mutation_p.G207S|BRF1_ENST00000379937.2_Missense_Mutation_p.G418S|BRF1_ENST00000327359.3_Missense_Mutation_p.G330S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.G241S|BRF1_ENST00000440513.3_Missense_Mutation_p.G330S|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron	p.G445S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	12	16292	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	445					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1333G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022549	0.93462	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562	.	.	.	5.6	5.6	0.85130	.	0.048447	0.85682	D	0.000000	T	0.77955	0.4208	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.68483	0.958;0.935;0.91	T	0.74365	-0.3689	9	0.23302	T	0.38	.	17.0928	0.86627	0.0:1.0:0.0:0.0	.	330;418;445	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	S	241;418;445;207;330;330;165	.	ENSP00000329029:G330S	G	-	1	0	BRF1	104757495	0.999000	0.42202	0.154000	0.22540	0.067000	0.16453	6.893000	0.75649	2.639000	0.89480	0.561000	0.74099	GGT		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		8	120	0	0	0	0.335167	0	8	120				
ABCC9	10060	broad.mit.edu	37	12	22063175	22063175	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:22063175C>G	ENST00000261201.4	-	8	1235	c.1236G>C	c.(1234-1236)caG>caC	p.Q412H	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q412H|ABCC9_ENST00000261200.4_Missense_Mutation_p.Q412H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	412	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTTGTTGATCTGCCCCAGAG	0.378																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1234-1236)caG>caC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	120.0	120.0					12																	22063175		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063175C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1236G>C	12.37:g.22063175C>G	ENSP00000261201:p.Gln412His					ABCC9_ENST00000345162.2_Missense_Mutation_p.Q412H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q412H	p.Q412H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			8	1235	-			412			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1236G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521054	0.64747	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.8	4.73	0.59995	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.66506	2.035	0.53005	D	0.999961	D;D	0.64830	0.994;0.989	D;P	0.67382	0.951;0.843	D	0.96074	0.9048	10	0.87932	D	0	-14.8839	13.4818	0.61340	0.0:0.8832:0.0:0.1168	.	412;412	O60706;O60706-2	ABCC9_HUMAN;.	H	412;75;412;412	ENSP00000261200:Q412H;ENSP00000440521:Q75H;ENSP00000261201:Q412H;ENSP00000261202:Q412H	ENSP00000261200:Q412H	Q	-	3	2	ABCC9	21954442	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.712000	0.37940	2.751000	0.94390	0.650000	0.86243	CAG		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	176	0	0	0	0.248553	0	7	176				
NCBP1	4686	broad.mit.edu	37	9	100433449	100433449	+	Missense_Mutation	SNP	G	G	A	rs377264051		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:100433449G>A	ENST00000375147.3	+	23	2597	c.2341G>A	c.(2341-2343)Gtg>Atg	p.V781M		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	781					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TATCTTGGCCGTGTTCCAGCA	0.423																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2341-2343)Gtg>Atg		nuclear cap binding protein subunit 1, 80kDa		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	149.0	131.0	137.0		2341	5.3	1.0	9		137	0,8600		0,0,4300	no	missense	NCBP1	NM_002486.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	781/791	100433449	1,13005	2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433449G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2341G>A	9.37:g.100433449G>A	ENSP00000364289:p.Val781Met						p.V781M	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			23	2597	+		Acute lymphoblastic leukemia(62;0.158)	781					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.2341G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325131	0.81580	2.27E-4	0.0	ENSG00000136937	ENST00000375147	.	.	.	5.33	5.33	0.75918	Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76305	-0.3008	9	0.51188	T	0.08	-15.2818	18.1706	0.89744	0.0:0.0:1.0:0.0	.	781	Q09161	NCBP1_HUMAN	M	781	.	ENSP00000364289:V781M	V	+	1	0	NCBP1	99473270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.583000	0.82559	2.663000	0.90544	0.655000	0.94253	GTG		0.423	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		24	120	0	0	0	0.667858	0	24	120				
PCDHA11	56138	broad.mit.edu	37	5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:140250178G>A	ENST00000398640.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	497	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)	p.R497Q(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672																																						ENST00000398640.2																			1	Substitution - Missense(1)	p.R497Q(1)	lung(1)	breast(1)|lung(1)	2						c.(1489-1491)cGg>cAg									68.0	74.0	72.0					5																	140250178		2203	4298	6501	SO:0001583	missense	56138							g.chr5:140250178G>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.1490G>A	5.37:g.140250178G>A	ENSP00000381636:p.Arg497Gln					PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.R497Q	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1490	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1490G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306356	0.40795	.	.	ENSG00000249158	ENST00000398640	T	0.51325	0.71	5.33	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14830	0.0358	N	0.01618	-0.8	0.09310	N	1	P;P	0.44260	0.714;0.83	B;B	0.33254	0.091;0.16	T	0.00706	-1.1601	9	0.35671	T	0.21	.	3.9458	0.09347	0.0898:0.1588:0.5874:0.164	.	497;497	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Q	497	ENSP00000381636:R497Q	ENSP00000381636:R497Q	R	+	2	0	PCDHA11	140230362	0.000000	0.05858	0.995000	0.50966	0.918000	0.54935	0.387000	0.20718	2.501000	0.84356	0.556000	0.70494	CGG		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		16	119	0	0	0	0.479597	0	16	119				
SASH1	23328	broad.mit.edu	37	6	148865297	148865297	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:148865297C>T	ENST00000367467.3	+	18	3166	c.2691C>T	c.(2689-2691)agC>agT	p.S897S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	897					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGACCCAAAGCAAGAGATTTT	0.537																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2689-2691)agC>agT		SAM and SH3 domain containing 1							119.0	135.0	130.0					6																	148865297		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148865297C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2691C>T	6.37:g.148865297C>T							p.S897S	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3166	+		Ovarian(120;0.0169)	897					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.2691C>T	CCDS5212.1																																																																																				0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		9	271	0	0	0	0.361761	0	9	271				
DCAF12L2	340578	broad.mit.edu	37	X	125298830	125298830	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298830G>T	ENST00000360028.2	-	1	1104	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.Q360K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATGATGTGCTGGTAGAAGCTC	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1078-1080)Cag>Aag		DDB1 and CUL4 associated factor 12-like 2							51.0	55.0	53.0					X																	125298830		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298830G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1078C>A	X.37:g.125298830G>T	ENSP00000353128:p.Gln360Lys					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360K	p.Q360K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1158	-			360					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1078C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	1.525	-0.545763	0.04024	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62788	0.0;0.0	4.05	3.18	0.36537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.481134	0.15650	N	0.251462	T	0.48241	0.1489	L	0.36672	1.1	0.28916	N	0.892408	B	0.24483	0.104	B	0.15870	0.014	T	0.39820	-0.9595	10	0.30854	T	0.27	.	9.6042	0.39624	0.0:0.4103:0.5897:0.0	.	360	Q5VW00	DC122_HUMAN	K	360	ENSP00000441489:Q360K;ENSP00000353128:Q360K	ENSP00000353128:Q360K	Q	-	1	0	DCAF12L2	125126511	1.000000	0.71417	0.782000	0.31804	0.146000	0.21551	3.224000	0.51238	1.047000	0.40274	0.544000	0.68410	CAG		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		12	83	1	0	3.07112e-06	0.387290	3.5117e-06	12	83				
MYO16	23026	broad.mit.edu	37	13	109817248	109817248	+	Splice_Site	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:109817248G>C	ENST00000357550.2	+	32	5139		c.e32-1		MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Splice_Site	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTATTTTAGGTTTTGAAAC	0.284																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.e33-1		myosin XVI							30.0	31.0	31.0					13																	109817248		2200	4298	6498	SO:0001630	splice_region_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109817248G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5099-1G>C	13.37:g.109817248G>C						MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Splice_Site		NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		33	5224	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)								Splice_Site	SNP	ENST00000357550.2	37		CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587118	0.66105	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8261	0.78709	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO16	108615249	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.387000	0.66243	2.579000	0.87056	0.557000	0.71058	.		0.284	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	Intron	25	55	0	0	0	0.639603	0	25	55				
DNAH3	55567	broad.mit.edu	37	16	21014470	21014470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:21014470G>A	ENST00000261383.3	-	42	6081	c.6082C>T	c.(6082-6084)Cag>Tag	p.Q2028*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2028					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGATATACTGTGTCCACGTT	0.388																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6082-6084)Cag>Tag		dynein, axonemal, heavy chain 3							192.0	170.0	177.0					16																	21014470		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21014470G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6082C>T	16.37:g.21014470G>A	ENSP00000261383:p.Gln2028*					DNAH3_ENST00000415178.1_3'UTR	p.Q2028*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	42	6081	-			2028					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.6082C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	44	11.169614	0.99525	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.79	4.83	0.62350	.	0.278041	0.33610	N	0.004739	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	16.6131	0.84899	0.0:0.8675:0.1325:0.0	.	.	.	.	X	2028	.	ENSP00000261383:Q2028X	Q	-	1	0	DNAH3	20921971	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	4.553000	0.60753	1.443000	0.47586	-0.147000	0.13772	CAG		0.388	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		64	202	0	0	0	0.870114	0	64	202				
POU2F1	5451	broad.mit.edu	37	1	167384851	167384851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:167384851C>T	ENST00000541643.3	+	17	2198	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.P702L|POU2F1_ENST00000429375.2_Missense_Mutation_p.P639L|POU2F1_ENST00000367862.5_Missense_Mutation_p.P691L|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	679					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCCTGAACCCTCAGAACCTC	0.572																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2071-2073)cCt>cTt		POU class 2 homeobox 1							154.0	140.0	145.0					1																	167384851		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384851C>T	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2036C>T	1.37:g.167384851C>T	ENSP00000441285:p.Pro679Leu					POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.P702L|POU2F1_ENST00000541643.3_Missense_Mutation_p.P679L|POU2F1_ENST00000429375.2_Missense_Mutation_p.P639L|POU2F1_ENST00000367865.1_3'UTR	p.P691L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2307	+			679					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2072C>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.276504	0.80580	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86956	-2.19;-2.15;-2.18;-2.17;-2.18	5.29	5.29	0.74685	.	0.284770	0.35555	N	0.003124	D	0.90662	0.7071	L	0.47716	1.5	0.42369	D	0.992447	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.83275	0.99;0.994;0.996;0.987	D	0.91156	0.4957	9	0.87932	D	0	.	19.126	0.93384	0.0:1.0:0.0:0.0	.	639;691;677;679	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	L	702;639;677;679;691	ENSP00000356840:P702L;ENSP00000401217:P639L;ENSP00000356839:P677L;ENSP00000441285:P679L;ENSP00000356836:P691L	ENSP00000356836:P691L	P	+	2	0	POU2F1	165651475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.181000	0.77682	2.746000	0.94184	0.591000	0.81541	CCT		0.572	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		16	205	0	0	0	0.539581	0	16	205				
EMILIN3	90187	broad.mit.edu	37	20	39990016	39990016	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:39990016C>T	ENST00000332312.3	-	4	2385	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	731						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCGTACGATTCAGCTGGTCCA	0.687																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(2191-2193)ctG>ctA		elastin microfibril interfacer 3							44.0	37.0	40.0					20																	39990016		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990016C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2193G>A	20.37:g.39990016C>T							p.L731L	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	2385	-		Myeloproliferative disorder(115;0.00425)	731					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.2193G>A	CCDS13316.1																																																																																				0.687	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		26	34	0	0	0	0.654019	0	26	34				
XIRP2	129446	broad.mit.edu	37	2	168100963	168100963	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168100963T>G	ENST00000409195.1	+	9	3150	c.3061T>G	c.(3061-3063)Ttt>Gtt	p.F1021V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F799V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1021V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	846					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGGTGGCTTTTTGAAACAAG	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3061-3063)Ttt>Gtt		xin actin-binding repeat containing 2							65.0	61.0	62.0					2																	168100963		1857	4096	5953	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100963T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3061T>G	2.37:g.168100963T>G	ENSP00000386840:p.Phe1021Val					XIRP2_ENST00000295237.9_Missense_Mutation_p.F1021V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F799V	p.F1021V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3150	+			846					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3061T>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572907	0.65765	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	D;D;D	0.85411	-1.98;-1.98;-1.98	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93611	0.6939	10	0.87932	D	0	-18.284	15.6264	0.76863	0.0:0.0:0.0:1.0	.	846;846;799	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1021;1021;799	ENSP00000386840:F1021V;ENSP00000295237:F1021V;ENSP00000387255:F799V	ENSP00000295237:F1021V	F	+	1	0	XIRP2	167809209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	TTT		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	93	0	0	0	0.217242	0	6	93				
RERE	473	broad.mit.edu	37	1	8616534	8616534	+	Splice_Site	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:8616534C>G	ENST00000337907.3	-	7	1359	c.725G>C	c.(724-726)aGa>aCa	p.R242T	RERE_ENST00000400908.2_Splice_Site_p.R242T|RERE_ENST00000400907.2_Splice_Site_p.R242T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	242	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTACTTACCTAAGGGCAGC	0.443																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.e7+1		arginine-glutamic acid dipeptide (RE) repeats							228.0	222.0	224.0					1																	8616534		2203	4300	6503	SO:0001630	splice_region_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8616534C>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.725+1G>C	1.37:g.8616534C>G						RERE_ENST00000400907.2_Splice_Site_p.R242_splice|RERE_ENST00000400908.2_Splice_Site_p.R242_splice	p.R242_splice	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	7	1359	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	242			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Splice_Site	SNP	ENST00000337907.3	37	c.725_splice	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852359	0.71719	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.87179	-2.22;-2.22;-2.22	5.32	5.32	0.75619	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.93103	0.7804	M	0.74881	2.28	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.92632	0.6117	8	.	.	.	-9.6877	17.9096	0.88930	0.0:1.0:0.0:0.0	.	242	Q9P2R6	RERE_HUMAN	T	242	ENSP00000338629:R242T;ENSP00000383699:R242T;ENSP00000383700:R242T	.	R	-	2	0	RERE	8539121	1.000000	0.71417	0.993000	0.49108	0.463000	0.32649	7.319000	0.79040	2.641000	0.89580	0.591000	0.81541	AGA		0.443	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		Missense_Mutation	45	320	0	0	0	0.870114	0	45	320				
EP300	2033	broad.mit.edu	37	22	41545804	41545804	+	Missense_Mutation	SNP	A	A	G	rs201054979		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:41545804A>G	ENST00000263253.7	+	14	3638	c.2419A>G	c.(2419-2421)Ata>Gta	p.I807V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	807					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAACTCTCCTATAATGCCTCC	0.458			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				A|||	1	0.000199681	0.0008	0.0	5008	,	,		19400	0.0		0.0	False		,,,				2504	0.0					ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(2419-2421)Ata>Gta		E1A binding protein p300		A	VAL/ILE	0,4406		0,0,2203	61.0	53.0	55.0		2419	2.5	1.0	22		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	EP300	NM_001429.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	807/2415	41545804	1,13005	2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41545804A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2419A>G	22.37:g.41545804A>G	ENSP00000263253:p.Ile807Val						p.I807V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			14	3638	+			807					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2419A>G	CCDS14010.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.63	1.995343	0.35226	0.0	1.16E-4	ENSG00000100393	ENST00000263253	D	0.82803	-1.65	6.08	2.55	0.30701	.	0.286229	0.24988	N	0.034008	T	0.58963	0.2159	N	0.08118	0	0.26967	N	0.965686	B	0.17465	0.022	B	0.21546	0.035	T	0.40776	-0.9545	10	0.12103	T	0.63	-5.9049	2.2786	0.04109	0.3866:0.0:0.371:0.2424	.	807	Q09472	EP300_HUMAN	V	807	ENSP00000263253:I807V	ENSP00000263253:I807V	I	+	1	0	EP300	39875750	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.712000	0.37940	0.513000	0.28278	0.482000	0.46254	ATA		0.458	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		21	50	0	0	0	0.575678	0	21	50				
EFCAB6	64800	broad.mit.edu	37	22	44064784	44064784	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:44064784T>A	ENST00000262726.7	-	16	2035	c.1782A>T	c.(1780-1782)aaA>aaT	p.K594N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K442N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTGTTCATCTTTTTGTAAAT	0.383																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1780-1782)aaA>aaT		EF-hand calcium binding domain 6							123.0	115.0	118.0					22																	44064784		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44064784T>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1782A>T	22.37:g.44064784T>A	ENSP00000262726:p.Lys594Asn					EFCAB6_ENST00000396231.2_Missense_Mutation_p.K442N	p.K594N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			16	2035	-		Ovarian(80;0.0247)|all_neural(38;0.025)	594					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1782A>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359957	0.24598	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13901	2.55;2.55	4.69	-1.45	0.08828	EF-hand-like domain (1);	0.797247	0.10970	N	0.614016	T	0.09818	0.0241	L	0.57536	1.79	0.09310	N	1	B	0.27229	0.172	B	0.20577	0.03	T	0.36432	-0.9748	10	0.23891	T	0.37	-6.0599	1.0546	0.01587	0.1485:0.2739:0.153:0.4246	.	594	Q5THR3	EFCB6_HUMAN	N	442;594	ENSP00000379533:K442N;ENSP00000262726:K594N	ENSP00000262726:K594N	K	-	3	2	EFCAB6	42396117	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.139000	0.16036	-0.243000	0.09653	0.454000	0.30748	AAA		0.383	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		5	143	0	0	0	0.184627	0	5	143				
ZPR1	8882	broad.mit.edu	37	11	116653688	116653688	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:116653688G>A	ENST00000227322.3	-	11	1098	c.1039C>T	c.(1039-1041)Ctc>Ttc	p.L347F		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		347					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGCCCCCGAGGACTGCCATT	0.478																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1039-1041)Ctc>Ttc		zinc finger protein 259							104.0	90.0	95.0					11																	116653688		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116653688G>A																												ENST00000227322.3:c.1039C>T	11.37:g.116653688G>A	ENSP00000227322:p.Leu347Phe						p.L347F	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	11	1098	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	347					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.1039C>T	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390020|3.390020	0.61956|0.61956	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	T|.	0.46819|.	0.86|.	6.17|6.17	5.27|5.27	0.74061|0.74061	Zinc finger, ZPR1-type (3);|.	0.177545|.	0.50627|.	N|.	0.000109|.	D|D	0.85890|0.85890	0.5802|0.5802	M|M	0.94101|0.94101	3.495|3.495	0.80722|0.80722	D|D	1|1	B;B|.	0.17268|.	0.015;0.021|.	B;B|.	0.24541|.	0.015;0.054|.	D|D	0.89850|0.89850	0.4009|0.4009	10|5	0.87932|.	D|.	0|.	-10.0713|-10.0713	15.5968|15.5968	0.76590|0.76590	0.0655:0.0:0.9345:0.0|0.0655:0.0:0.9345:0.0	.|.	296;347|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	F|L	347|273	ENSP00000227322:L347F|.	ENSP00000227322:L347F|.	L|P	-|-	1|2	0|0	ZNF259|ZNF259	116158898|116158898	0.994000|0.994000	0.37717|0.37717	0.971000|0.971000	0.41717|0.41717	0.921000|0.921000	0.55340|0.55340	2.142000|2.142000	0.42177|0.42177	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.478	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			118	43	0	0	0	0.870114	0	118	43				
TNPO1	3842	broad.mit.edu	37	5	72187641	72187641	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:72187641A>G	ENST00000337273.5	+	15	2132	c.1706A>G	c.(1705-1707)tAt>tGt	p.Y569C	TNPO1_ENST00000523768.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000506351.2_Missense_Mutation_p.Y561C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y519C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	569					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAATAGGAATATATTCAGATG	0.328																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1705-1707)tAt>tGt		transportin 1							105.0	108.0	107.0					5																	72187641		2203	4298	6501	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72187641A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1706A>G	5.37:g.72187641A>G	ENSP00000336712:p.Tyr569Cys					TNPO1_ENST00000506351.2_Missense_Mutation_p.Y561C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y519C	p.Y569C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	15	2132	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	569					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1706A>G	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934686	0.73442	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.978;0.98	T	0.78046	-0.2357	10	0.87932	D	0	-15.2004	15.3148	0.74065	1.0:0.0:0.0:0.0	.	519;569	Q92973-3;Q92973	.;TNPO1_HUMAN	C	569;519;519;561;80	ENSP00000336712:Y569C;ENSP00000398524:Y519C;ENSP00000428899:Y519C;ENSP00000425118:Y561C	ENSP00000336712:Y569C	Y	+	2	0	TNPO1	72223397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.875000	0.92372	2.086000	0.62901	0.528000	0.53228	TAT		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		48	114	0	0	0	0.870114	0	48	114				
OR8H1	219469	broad.mit.edu	37	11	56058044	56058044	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:56058044C>A	ENST00000313022.2	-	1	522	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165L(3)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CGCAGAAATGCAGTCTGCTCA	0.433																																						ENST00000313022.2																			3	Substitution - coding silent(3)	p.L165L(3)	prostate(2)|kidney(1)	NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(493-495)ctG>ctT		olfactory receptor, family 8, subfamily H, member 1							98.0	89.0	92.0					11																	56058044		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058044C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.495G>T	11.37:g.56058044C>A							p.L165L	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	522	-	Esophageal squamous(21;0.00448)		165					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.495G>T	CCDS31526.1																																																																																				0.433	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		4	141	1	0	0.150653	0.150653	0.153485	4	141				
DFNB31	25861	broad.mit.edu	37	9	117187304	117187304	+	Splice_Site	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:117187304C>A	ENST00000362057.3	-	5	1335	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	DFNB31_ENST00000374059.3_Missense_Mutation_p.R38S|DFNB31_ENST00000265134.6_Splice_Site_p.G6G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	389					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCAAGAAACCTGTGGGGAA	0.517																																						ENST00000374059.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(112-114)agG>agT		deafness, autosomal recessive 31							194.0	174.0	181.0					9																	117187304		2203	4300	6503	SO:0001630	splice_region_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117187304C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1167-1G>T	9.37:g.117187304C>A						DFNB31_ENST00000362057.3_Splice_Site_p.G389_splice|DFNB31_ENST00000265134.6_Splice_Site_p.G6_splice	p.R38S			Q9P202	WHRN_HUMAN			1	1047	-			389					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.114G>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	3.668	-0.068123	0.07228	.	.	ENSG00000095397	ENST00000374059	T	0.03065	4.06	4.76	3.86	0.44501	.	.	.	.	.	T	0.04452	0.0122	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37150	-0.9718	8	0.49607	T	0.09	.	13.3752	0.60734	0.0:0.8419:0.1581:0.0	.	38	Q9P202-4	.	S	38	ENSP00000363172:R38S	ENSP00000363172:R38S	R	-	3	2	DFNB31	116227125	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	0.782000	0.26788	1.135000	0.42183	0.561000	0.74099	AGG		0.517	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	Silent	8	206	1	0	0.000157383	0.278610	0.000172676	8	206				
PSD3	23362	broad.mit.edu	37	8	18430163	18430163	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:18430163C>T	ENST00000327040.8	-	14	2761	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	PSD3_ENST00000428502.2_Missense_Mutation_p.G216R|PSD3_ENST00000523619.1_Missense_Mutation_p.G822R|PSD3_ENST00000286485.8_Missense_Mutation_p.G353R|PSD3_ENST00000440756.2_Missense_Mutation_p.G889R	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	888	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTATCCACCCTTGCATTTCC	0.428																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2665-2667)Ggg>Agg		pleckstrin and Sec7 domain containing 3							158.0	165.0	162.0					8																	18430163		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18430163C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2659G>A	8.37:g.18430163C>T	ENSP00000324127:p.Gly887Arg					PSD3_ENST00000428502.2_Missense_Mutation_p.G216R|PSD3_ENST00000523619.1_Missense_Mutation_p.G822R|PSD3_ENST00000286485.8_Missense_Mutation_p.G353R|PSD3_ENST00000327040.8_Missense_Mutation_p.G887R	p.G889R			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	14	2767	-			888			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2665G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005175	0.74932	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.532223	0.13079	U	0.415421	T	0.72326	0.3446	N	0.17082	0.46	0.43195	D	0.995031	B;B;B;P	0.34864	0.082;0.082;0.006;0.473	B;B;B;P	0.44422	0.166;0.166;0.015;0.449	T	0.70687	-0.4803	10	0.56958	D	0.05	.	12.6378	0.56692	0.1652:0.8348:0.0:0.0	.	887;888;353;216	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	R	887;889;353;216;822	ENSP00000324127:G887R;ENSP00000401704:G889R;ENSP00000286485:G353R;ENSP00000393228:G216R;ENSP00000430640:G822R	ENSP00000286485:G353R	G	-	1	0	PSD3	18474443	0.990000	0.36364	0.933000	0.37362	0.949000	0.60115	3.388000	0.52509	2.861000	0.98227	0.650000	0.86243	GGG		0.428	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		18	279	0	0	0	0.608945	0	18	279				
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:21971209T>A	ENST00000304494.5	-	2	421		c.e2-2		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(277)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(52)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS014762	CDKN2A	S		c.e2-2		cyclin-dependent kinase inhibitor 2A							8.0	9.0	8.0					9																	21971209		2066	4135	6201	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971209T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-2A>T	9.37:g.21971209T>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site				P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	486	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37		CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762210	0.49468	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.022	0.71637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961209	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	7.014000	0.76380	2.181000	0.69327	0.454000	0.30748	.		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	3	4	0	0	0	0.307466	0	3	4				
ZNF493	284443	broad.mit.edu	37	19	21607117	21607117	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:21607117A>T	ENST00000355504.4	+	2	1538	c.1272A>T	c.(1270-1272)aaA>aaT	p.K424N	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K552N	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATGTGGCAAAGCTTTTAATC	0.363																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1654-1656)aaA>aaT		zinc finger protein 493							45.0	46.0	46.0					19																	21607117		2202	4297	6499	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607117A>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1272A>T	19.37:g.21607117A>T	ENSP00000347691:p.Lys424Asn					ZNF493_ENST00000355504.4_Missense_Mutation_p.K424N|CTD-2561J22.3_ENST00000600810.1_Intron	p.K552N	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1765	+			424					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1656A>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	12.06	1.823768	0.32237	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.27890	1.64;1.64	1.06	-0.0912	0.13661	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56455	0.1986	M	0.92412	3.305	0.46011	D	0.998817	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.57688	-0.7768	9	0.87932	D	0	.	5.1194	0.14852	0.7843:0.0:0.2157:0.0	.	424;552	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	N	552;424	ENSP00000376110:K552N;ENSP00000347691:K424N	ENSP00000347691:K424N	K	+	3	2	ZNF493	21398957	0.008000	0.16893	0.028000	0.17463	0.028000	0.11728	0.070000	0.14573	0.388000	0.25054	0.383000	0.25322	AAA		0.363	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		15	62	0	0	0	0.479597	0	15	62				
ANKRD30B	374860	broad.mit.edu	37	18	14787090	14787090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:14787090G>A	ENST00000358984.4	+	15	1905	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.W575*|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	575										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTCTTGGGATTCTGAGG	0.318																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1723-1725)tgG>tgA		ankyrin repeat domain 30B							167.0	142.0	150.0					18																	14787090		692	1585	2277	SO:0001587	stop_gained	374860							g.chr18:14787090G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1725G>A	18.37:g.14787090G>A	ENSP00000351875:p.Trp575*					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.W575*	p.W575*	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1905	+			575					B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	ENST00000358984.4	37	c.1725G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	15.47	2.842553	0.51057	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	.	.	.	1.15	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	5.7266	0.18017	0.0:0.0:1.0:0.0	.	.	.	.	X	575	.	ENSP00000351875:W575X	W	+	3	0	ANKRD30B	14777090	0.993000	0.37304	0.731000	0.30826	0.007000	0.05969	1.235000	0.32671	0.948000	0.37687	0.289000	0.19496	TGG		0.318	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	47	0	0	0	0.150653	0	3	47				
TMEM63C	57156	broad.mit.edu	37	14	77703058	77703058	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:77703058C>T	ENST00000298351.4	+	9	778	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	212					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGGGTTTGCACCCAGGAATAG	0.547																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(634-636)Ccc>Tcc		transmembrane protein 63C							98.0	101.0	100.0					14																	77703058		2034	4182	6216	SO:0001583	missense	57156					integral to membrane		g.chr14:77703058C>T		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.634C>T	14.37:g.77703058C>T	ENSP00000298351:p.Pro212Ser						p.P212S	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	9	778	+			212					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.634C>T	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	c	0.968	-0.701100	0.03255	.	.	ENSG00000165548	ENST00000298351	T	0.16324	2.35	4.11	4.11	0.48088	.	0.250924	0.41001	D	0.000969	T	0.13243	0.0321	L	0.44542	1.39	0.22541	N	0.999006	B	0.13145	0.007	B	0.16722	0.016	T	0.16305	-1.0407	10	0.19590	T	0.45	-18.1277	8.3795	0.32463	0.0:0.8507:0.0:0.1493	.	212	Q9P1W3	TM63C_HUMAN	S	212	ENSP00000298351:P212S	ENSP00000298351:P212S	P	+	1	0	TMEM63C	76772811	1.000000	0.71417	0.892000	0.35008	0.021000	0.10359	2.988000	0.49386	2.281000	0.76405	0.550000	0.68814	CCC		0.547	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			6	145	0	0	0	0.248553	0	6	145				
MAATS1	89876	broad.mit.edu	37	3	119458167	119458167	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:119458167G>A	ENST00000273390.5	+	12	1604	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	345						mitochondrion (GO:0005739)											GAGTCGTTCAGAACATGGTGT	0.428																																						ENST00000273390.5																			0											c.(1525-1527)caG>caA		MYCBP-associated, testis expressed 1							120.0	126.0	124.0					3																	119458167		2203	4300	6503	SO:0001819	synonymous_variant	89876							g.chr3:119458167G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1527G>A	3.37:g.119458167G>A							p.Q509Q	NM_033364.3	NP_203528.2					12	1604	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1527G>A	CCDS2994.1																																																																																				0.428	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		26	215	0	0	0	0.667858	0	26	215				
RIF1	55183	broad.mit.edu	37	2	152324992	152324992	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:152324992A>G	ENST00000243326.5	+	31	7235	c.6752A>G	c.(6751-6753)aAt>aGt	p.N2251S	RIF1_ENST00000430328.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.N2251S|RIF1_ENST00000453091.2_Intron			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATCTAGCATAATACCACTTCA	0.348																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6751-6753)aAt>aGt		RAP1 interacting factor homolog (yeast)							124.0	129.0	128.0					2																	152324992		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152324992A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6752A>G	2.37:g.152324992A>G	ENSP00000243326:p.Asn2251Ser					RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.N2251S	p.N2251S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	31	7235	+			2251			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6752A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469718	0.63625	.	.	ENSG00000080345	ENST00000444746;ENST00000243326	T;T	0.11604	2.76;2.76	5.5	4.33	0.51752	.	0.206175	0.49916	D	0.000127	T	0.11153	0.0272	L	0.54323	1.7	0.80722	D	1	P	0.48640	0.913	B	0.41271	0.352	T	0.16129	-1.0413	10	0.23302	T	0.38	-13.9931	10.1549	0.42816	0.6821:0.0:0.0:0.3179	.	2251	Q5UIP0	RIF1_HUMAN	S	2251	ENSP00000390181:N2251S;ENSP00000243326:N2251S	ENSP00000243326:N2251S	N	+	2	0	RIF1	152033238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.798000	0.55522	1.001000	0.39076	0.482000	0.46254	AAT		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			60	205	0	0	0	0.870114	0	60	205				
NASP	4678	broad.mit.edu	37	1	46073529	46073529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:46073529G>T	ENST00000350030.3	+	6	1033	c.946G>T	c.(946-948)Gag>Tag	p.E316*	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Nonsense_Mutation_p.E252*|NASP_ENST00000402363.3_Nonsense_Mutation_p.E318*|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	316	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CGAGCCAGAGGAGAAGGTAGT	0.527																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(946-948)Gag>Tag		nuclear autoantigenic sperm protein (histone-binding)							59.0	59.0	59.0					1																	46073529		2203	4300	6503	SO:0001587	stop_gained	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073529G>T	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.946G>T	1.37:g.46073529G>T	ENSP00000255120:p.Glu316*					NASP_ENST00000402363.3_Nonsense_Mutation_p.E318*|NASP_ENST00000537798.1_Nonsense_Mutation_p.E252*|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron	p.E316*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1033	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		316			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Nonsense_Mutation	SNP	ENST00000350030.3	37	c.946G>T	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939749	0.52972	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	.	.	.	5.67	1.52	0.23074	.	0.398320	0.25517	N	0.030133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.004	7.2804	0.26308	0.199:0.0:0.6807:0.1203	.	.	.	.	X	252;318;216;316;279	.	.	E	+	1	0	NASP	45846116	0.961000	0.32948	0.806000	0.32338	0.535000	0.34838	2.641000	0.46587	0.436000	0.26393	-0.259000	0.10710	GAG		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		5	57	1	0	0.00116845	0.217242	0.00125158	5	57				
OR5P3	120066	broad.mit.edu	37	11	7847182	7847182	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:7847182A>T	ENST00000328375.1	-	1	337	c.338T>A	c.(337-339)tTc>tAc	p.F113Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCAGCAGGAAGCACTCGGC	0.552																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(337-339)tTc>tAc		olfactory receptor, family 5, subfamily P, member 3							148.0	143.0	145.0					11																	7847182		2186	4296	6482	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847182A>T	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.338T>A	11.37:g.7847182A>T	ENSP00000332068:p.Phe113Tyr					RP11-35J10.5_ENST00000527565.1_lincRNA	p.F113Y	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	337	-			113					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.338T>A	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	8.970	0.972683	0.18736	.	.	ENSG00000182334	ENST00000328375	T	0.01347	4.99	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000215	T	0.01592	0.0051	L	0.28504	0.86	0.22171	N	0.999317	B	0.31859	0.343	B	0.33620	0.167	T	0.53107	-0.8485	10	0.18276	T	0.48	-49.8885	13.1087	0.59261	1.0:0.0:0.0:0.0	.	113	Q8WZ94	OR5P3_HUMAN	Y	113	ENSP00000332068:F113Y	ENSP00000332068:F113Y	F	-	2	0	OR5P3	7803758	0.000000	0.05858	0.974000	0.42286	0.044000	0.14063	0.922000	0.28734	2.194000	0.70268	0.524000	0.50904	TTC		0.552	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		10	184	0	0	0	0.361761	0	10	184				
SYNRG	11276	broad.mit.edu	37	17	35913812	35913812	+	Silent	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:35913812T>A	ENST00000339208.6	-	14	2153	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	SYNRG_ENST00000394378.2_Silent_p.G593G|SYNRG_ENST00000502449.2_Silent_p.G593G|SYNRG_ENST00000346661.4_Silent_p.G671G|SYNRG_ENST00000345615.4_Silent_p.G593G|SYNRG_ENST00000591288.1_Silent_p.G510G|SYNRG_ENST00000585472.1_Silent_p.G592G|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	671	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCTGAATTCTCCAAAATCAT	0.418																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2011-2013)ggA>ggT		synergin, gamma							56.0	55.0	55.0					17																	35913812		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913812T>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2013A>T	17.37:g.35913812T>A						SYNRG_ENST00000502449.2_Silent_p.G593G|SYNRG_ENST00000394378.2_Silent_p.G593G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Silent_p.G593G|SYNRG_ENST00000591288.1_Silent_p.G510G|SYNRG_ENST00000585472.1_Silent_p.G592G|SYNRG_ENST00000346661.4_Silent_p.G671G	p.G671G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2153	-			671			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.2013A>T	CCDS11321.1																																																																																				0.418	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		66	36	0	0	0	0.870114	0	66	36				
NOTCH1	4851	broad.mit.edu	37	9	139412299	139412299	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139412299C>T	ENST00000277541.6	-	8	1421	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGATCTCGCATCGGGGGCC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1345-1347)tGc>tAc		notch 1							51.0	58.0	56.0					9																	139412299		2180	4271	6451	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412299C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1346G>A	9.37:g.139412299C>T	ENSP00000277541:p.Cys449Tyr	HNSCC(8;0.001)					p.C449Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1421	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	449			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1346G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388779	0.82902	.	.	ENSG00000148400	ENST00000277541	D	0.99914	-7.98	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95827	0.8855	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	449	P46531	NOTC1_HUMAN	Y	449	ENSP00000277541:C449Y	ENSP00000277541:C449Y	C	-	2	0	NOTCH1	138532120	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	7.589000	0.82641	2.088000	0.63022	0.462000	0.41574	TGC		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		80	29	0	0	0	0.870114	0	80	29				
SYNE1	23345	broad.mit.edu	37	6	152523002	152523002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:152523002G>A	ENST00000367255.5	-	127	23703	c.23102C>T	c.(23101-23103)cCg>cTg	p.P7701L	SYNE1_ENST00000356820.4_Missense_Mutation_p.P2225L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7313L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7701L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7630L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7701					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTGATCCGGGAGAGACTG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23101-23103)cCg>cTg		spectrin repeat containing, nuclear envelope 1							110.0	114.0	113.0					6																	152523002		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152523002G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23102C>T	6.37:g.152523002G>A	ENSP00000356224:p.Pro7701Leu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2225L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7313L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7701L	p.P7701L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	127	23703	-		Ovarian(120;0.0955)	7701					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23102C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711136	0.68730	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000011	T	0.64114	0.2569	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67860	-0.5561	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	7701;7701;7630;7630	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7701;347;7630;7701;7630;7313;2225;623	ENSP00000356224:P7701L;ENSP00000356226:P347L;ENSP00000396024:P7630L;ENSP00000265368:P7701L;ENSP00000390975:P7630L;ENSP00000341887:P7313L;ENSP00000349276:P2225L;ENSP00000356220:P623L	ENSP00000265368:P7701L	P	-	2	0	SYNE1	152564695	1.000000	0.71417	0.292000	0.24919	0.095000	0.18619	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCG		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	99	0	0	0	0.387290	0	12	99				
TMEM53	79639	broad.mit.edu	37	1	45120269	45120269	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120269G>T	ENST00000372237.3	-	3	959	c.796C>A	c.(796-798)Ctc>Atc	p.L266I	TMEM53_ENST00000372235.3_Missense_Mutation_p.L236I|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	266						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					TCGACACAGAGGCTTGTGTAG	0.587																																						ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(796-798)Ctc>Atc		transmembrane protein 53							79.0	90.0	86.0					1																	45120269		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120269G>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.796C>A	1.37:g.45120269G>T	ENSP00000361311:p.Leu266Ile					TMEM53_ENST00000372235.3_Missense_Mutation_p.L236I|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	p.L266I	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	959	-	Acute lymphoblastic leukemia(166;0.155)		266					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.796C>A	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	9.744	1.165776	0.21538	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.01	4.09	0.47781	.	0.432691	0.25671	N	0.029074	T	0.27524	0.0676	L	0.27053	0.805	0.28514	N	0.913388	B	0.26809	0.16	B	0.25987	0.065	T	0.14755	-1.0461	9	0.29301	T	0.29	.	8.3332	0.32200	0.0789:0.0:0.7669:0.1542	.	266	Q6P2H8	TMM53_HUMAN	I	266;236	.	ENSP00000361309:L236I	L	-	1	0	TMEM53	44892856	1.000000	0.71417	0.995000	0.50966	0.861000	0.49209	3.982000	0.56909	1.104000	0.41587	0.462000	0.41574	CTC		0.587	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		14	87	1	0	4.7546e-09	0.500413	5.70132e-09	14	87				
LNX1	84708	broad.mit.edu	37	4	54424120	54424120	+	Intron	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:54424120G>A	ENST00000263925.7	-	2	695				FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Silent_p.L5L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCAGCAACAGAAGCGCCTTC	0.537																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(13-15)Ctg>Ttg		ligand of numb-protein X 1, E3 ubiquitin protein ligase							172.0	143.0	153.0					4																	54424120		2203	4300	6503	SO:0001627	intron_variant	84708					cytoplasm	zinc ion binding	g.chr4:54424120G>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.380+15669C>T	4.37:g.54424120G>A						LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron	p.L5L	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	264	-	all_neural(26;0.153)		101					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.13C>T	CCDS47057.1																																																																																				0.537	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			17	43	0	0	0	0.539581	0	17	43				
EXO1	9156	broad.mit.edu	37	1	242030178	242030178	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:242030178A>C	ENST00000366548.3	+	11	1681	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	EXO1_ENST00000348581.5_Missense_Mutation_p.K363T|EXO1_ENST00000518483.1_Missense_Mutation_p.K363T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	363	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACATGTCAAAAGTCAGCTAAT	0.378								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1087-1089)aAg>aCg	Editing and processing nucleases	exonuclease 1							122.0	116.0	118.0					1																	242030178		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242030178A>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1088A>C	1.37:g.242030178A>C	ENSP00000355506:p.Lys363Thr					EXO1_ENST00000518483.1_Missense_Mutation_p.K363T|EXO1_ENST00000348581.5_Missense_Mutation_p.K363T	p.K363T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		11	1681	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	363			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1088A>C	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	7.616	0.675900	0.14841	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.39787	1.12;1.12;1.06	5.75	4.63	0.57726	.	0.237834	0.39274	N	0.001417	T	0.37571	0.1008	L	0.61036	1.89	0.32554	N	0.531951	P;P;P	0.41673	0.647;0.759;0.647	B;B;B	0.37692	0.131;0.256;0.131	T	0.56481	-0.7972	10	0.48119	T	0.1	-5.3857	8.9376	0.35708	0.9155:0.0:0.0845:0.0	.	363;363;363	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	363	ENSP00000355506:K363T;ENSP00000311873:K363T;ENSP00000430251:K363T	ENSP00000311873:K363T	K	+	2	0	EXO1	240096801	0.982000	0.34865	0.253000	0.24343	0.044000	0.14063	2.603000	0.46266	2.197000	0.70478	0.533000	0.62120	AAG		0.378	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		9	168	0	0	0	0.387290	0	9	168				
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	T	rs550777059		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95645720C>T	ENST00000436874.1	+	2	146	c.41C>T	c.(40-42)tCt>tTt	p.S14F	VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18268	0.0		0.0	False		,,,				2504	0.0					ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(40-42)tCt>tTt		vezatin, adherens junctions transmembrane protein							138.0	133.0	135.0					12																	95645720		1838	4069	5907	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645720C>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.41C>T	12.37:g.95645720C>T	ENSP00000410083:p.Ser14Phe					VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_Intron	p.S14F	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	146	+			14					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.41C>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531186	0.85706	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000397796	T;T;T	0.64260	1.47;0.14;-0.09	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000001	T	0.78610	0.4310	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.79783	-0.1658	10	0.87932	D	0	-33.6395	17.7302	0.88375	0.0:1.0:0.0:0.0	.	14;14	C9J154;Q9HBM0	.;VEZA_HUMAN	F	14;14;33;14	ENSP00000410083:S14F;ENSP00000449591:S14F;ENSP00000449701:S33F	ENSP00000380898:S14F	S	+	2	0	VEZT	94169851	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.719000	0.68462	2.721000	0.93114	0.655000	0.94253	TCT		0.363	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		9	97	0	0	0	0.335167	0	9	97				
DCAF12L2	340578	broad.mit.edu	37	X	125298829	125298829	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298829T>A	ENST00000360028.2	-	1	1105	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.Q360L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GATGATGTGCTGGTAGAAGCT	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1078-1080)cAg>cTg		DDB1 and CUL4 associated factor 12-like 2							51.0	55.0	54.0					X																	125298829		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298829T>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1079A>T	X.37:g.125298829T>A	ENSP00000353128:p.Gln360Leu					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360L	p.Q360L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1159	-			360					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1079A>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	T	6.060	0.379389	0.11466	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62941	-0.01;-0.01	4.05	1.66	0.24008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.481134	0.15650	N	0.251462	T	0.44265	0.1285	L	0.36672	1.1	0.31701	N	0.640689	B	0.32245	0.361	B	0.21708	0.036	T	0.45440	-0.9261	10	0.44086	T	0.13	.	6.4391	0.21839	0.0:0.2214:0.0:0.7786	.	360	Q5VW00	DC122_HUMAN	L	360	ENSP00000441489:Q360L;ENSP00000353128:Q360L	ENSP00000353128:Q360L	Q	-	2	0	DCAF12L2	125126510	1.000000	0.71417	0.315000	0.25238	0.083000	0.17756	2.923000	0.48868	0.225000	0.20959	-0.435000	0.05868	CAG		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		12	85	0	0	0	0.387290	0	12	85				
RYR1	6261	broad.mit.edu	37	19	38960132	38960132	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:38960132C>T	ENST00000359596.3	+	27	3744	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	RYR1_ENST00000360985.3_Silent_p.P1248P|RYR1_ENST00000355481.4_Silent_p.P1248P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1248	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCCAGTGCCCCTTGAACACC	0.552																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3742-3744)ccC>ccT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						100.0	92.0	95.0					19																	38960132		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38960132C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3744C>T	19.37:g.38960132C>T						RYR1_ENST00000360985.3_Silent_p.P1248P|RYR1_ENST00000359596.3_Silent_p.P1248P	p.P1248P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	3875	+	all_cancers(60;7.91e-06)		1248			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3744C>T	CCDS33011.1																																																																																				0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	150	0	0	0	0.184627	0	5	150				
USP48	84196	broad.mit.edu	37	1	22016569	22016569	+	Silent	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:22016569A>G	ENST00000308271.9	-	24	3555	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	USP48_ENST00000400301.1_Silent_p.A917A|USP48_ENST00000374732.3_Silent_p.A455A|USP48_ENST00000529637.1_Silent_p.A981A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	969	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGTCAAAAGGAGCAACTGAAA	0.358																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2905-2907)gcT>gcC		ubiquitin specific peptidase 48							85.0	84.0	84.0					1																	22016569		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22016569A>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2907T>C	1.37:g.22016569A>G						USP48_ENST00000400301.1_Silent_p.A917A|USP48_ENST00000529637.1_Silent_p.A981A|USP48_ENST00000374732.3_Silent_p.A455A	p.A969A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	24	3555	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	969			Ubiquitin-like.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.2907T>C	CCDS30623.1																																																																																				0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		26	65	0	0	0	0.654019	0	26	65				
TMEM53	79639	broad.mit.edu	37	1	45120270	45120270	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120270G>T	ENST00000372237.3	-	3	958	c.795C>A	c.(793-795)agC>agA	p.S265R	TMEM53_ENST00000372235.3_Missense_Mutation_p.S235R|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	265						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGACACAGAGGCTTGTGTAGT	0.582																																						ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(793-795)agC>agA		transmembrane protein 53							79.0	90.0	86.0					1																	45120270		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120270G>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.795C>A	1.37:g.45120270G>T	ENSP00000361311:p.Ser265Arg					TMEM53_ENST00000372235.3_Missense_Mutation_p.S235R|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	p.S265R	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	958	-	Acute lymphoblastic leukemia(166;0.155)		265					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.795C>A	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	8.825	0.938494	0.18206	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.25	3.15	0.36227	.	0.599809	0.18842	N	0.129647	T	0.41673	0.1169	L	0.56280	1.765	0.32623	N	0.523101	B	0.14805	0.011	B	0.16722	0.016	T	0.43621	-0.9380	9	0.09590	T	0.72	.	7.9911	0.30242	0.2793:0.0:0.7207:0.0	.	265	Q6P2H8	TMM53_HUMAN	R	265;235	.	ENSP00000361309:S235R	S	-	3	2	TMEM53	44892857	0.994000	0.37717	0.976000	0.42696	0.867000	0.49689	2.154000	0.42291	0.459000	0.27016	0.462000	0.41574	AGC		0.582	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		14	88	1	0	6.31663e-08	0.479597	7.41041e-08	14	88				
LARS2	23395	broad.mit.edu	37	3	45500356	45500356	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:45500356T>G	ENST00000415258.1	+	7	869	c.728T>G	c.(727-729)aTt>aGt	p.I243S	LARS2_ENST00000265537.3_Missense_Mutation_p.I243S|LARS2_ENST00000414984.1_Missense_Mutation_p.I200S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	243					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CAATGGTTTATTAAGACAACC	0.498																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(727-729)aTt>aGt		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						127.0	117.0	120.0					3																	45500356		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45500356T>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.728T>G	3.37:g.45500356T>G	ENSP00000408576:p.Ile243Ser					LARS2_ENST00000414984.1_Missense_Mutation_p.I200S|LARS2_ENST00000265537.3_Missense_Mutation_p.I243S	p.I243S			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	7	869	+			243						Missense_Mutation	SNP	ENST00000415258.1	37	c.728T>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697569	0.88830	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.78816	-1.21;-1.21;-1.21	5.41	5.41	0.78517	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.154096	0.56097	D	0.000025	D	0.89076	0.6612	M	0.90252	3.1	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.61722	0.893;0.893	D	0.91434	0.5168	10	0.87932	D	0	-9.0626	15.7363	0.77846	0.0:0.0:0.0:1.0	.	200;243	E9PHM2;Q15031	.;SYLM_HUMAN	S	243;243;200	ENSP00000265537:I243S;ENSP00000408576:I243S;ENSP00000412893:I200S	ENSP00000265537:I243S	I	+	2	0	LARS2	45475360	1.000000	0.71417	0.927000	0.36925	0.991000	0.79684	7.655000	0.83696	2.189000	0.69895	0.460000	0.39030	ATT		0.498	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		24	45	0	0	0	0.706142	0	24	45				
KMT2D	8085	broad.mit.edu	37	12	49425941	49425941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:49425941G>A	ENST00000301067.7	-	39	12546	c.12547C>T	c.(12547-12549)Cag>Tag	p.Q4183*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4183	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3912fs(2)|p.G4182fs(2)									GGCAGACCCTGCCCAGACTGG	0.592																																						ENST00000301067.7																			4	Complex(4)	p.G3912fs(2)|p.G4182fs(2)	central_nervous_system(4)								c.(12547-12549)Cag>Tag		lysine (K)-specific methyltransferase 2D							81.0	78.0	79.0					12																	49425941		2023	4182	6205	SO:0001587	stop_gained	8085							g.chr12:49425941G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12547C>T	12.37:g.49425941G>A	ENSP00000301067:p.Gln4183*						p.Q4183*	NM_003482.3	NP_003473.3					39	12546	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.12547C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	53	20.701493	0.99933	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.89	4.89	0.63831	.	0.238747	0.21981	N	0.066313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8211	0.78644	0.0:0.0:1.0:0.0	.	.	.	.	X	4183	.	ENSP00000301067:Q4183X	Q	-	1	0	MLL2	47712208	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.389000	0.79806	2.662000	0.90505	0.655000	0.94253	CAG		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	127	0	0	0	0.248553	0	6	127				
GCC1	79571	broad.mit.edu	37	7	127222454	127222454	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:127222454C>T	ENST00000321407.2	-	2	2366	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	648					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTCATTGGCCGCTGCAAGT	0.582																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1942-1944)Gcc>Acc		GRIP and coiled-coil domain containing 1							120.0	117.0	118.0					7																	127222454		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222454C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1942G>A	7.37:g.127222454C>T	ENSP00000318821:p.Ala648Thr						p.A648T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2366	-			648					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1942G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387862	0.11581	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.49	2.54	0.30619	.	0.577345	0.19741	N	0.107107	T	0.08626	0.0214	L	0.34521	1.04	0.24510	N	0.994218	B	0.12630	0.006	B	0.14023	0.01	T	0.35475	-0.9787	10	0.16420	T	0.52	-0.3929	6.1245	0.20172	0.1376:0.6504:0.1337:0.0783	.	648	Q96CN9	GCC1_HUMAN	T	648	ENSP00000318821:A648T	ENSP00000318821:A648T	A	-	1	0	GCC1	127009690	0.160000	0.22878	0.044000	0.18714	0.014000	0.08584	0.524000	0.22940	0.792000	0.33850	0.655000	0.94253	GCC		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		4	131	0	0	0	0.217242	0	4	131				
ASIC5	51802	broad.mit.edu	37	4	156751052	156751052	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:156751052G>T	ENST00000537611.2	-	10	1520	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	492					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TGATTCTGAGGTGGAGGAGTC	0.338																																						ENST00000537611.2																			0											c.(1474-1476)Cct>Act		acid-sensing (proton-gated) ion channel family member 5							64.0	61.0	62.0					4																	156751052		2202	4300	6502	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156751052G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1474C>A	4.37:g.156751052G>T	ENSP00000442477:p.Pro492Thr						p.P492T	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			10	1520	-			492						Missense_Mutation	SNP	ENST00000537611.2	37	c.1474C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025910	0.35701	.	.	ENSG00000256394	ENST00000537611	T	0.65732	-0.17	4.66	0.385	0.16249	.	1.289460	0.05095	N	0.485925	T	0.46776	0.1410	L	0.41236	1.265	0.09310	N	1	B	0.31680	0.335	B	0.27500	0.08	T	0.33979	-0.9847	10	0.39692	T	0.17	-5.487	0.7789	0.01037	0.1824:0.2827:0.2462:0.2888	.	492	Q9NY37	ACCN5_HUMAN	T	492	ENSP00000442477:P492T	ENSP00000264432:P492T	P	-	1	0	ACCN5	156970502	0.010000	0.17322	0.000000	0.03702	0.964000	0.63967	-0.065000	0.11617	0.208000	0.20626	0.655000	0.94253	CCT		0.338	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			5	62	1	0	0.00116845	0.217242	0.00125158	5	62				
NAA20	51126	broad.mit.edu	37	20	20013236	20013236	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:20013236A>T	ENST00000334982.4	+	5	671	c.390A>T	c.(388-390)gtA>gtT	p.V130V	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Silent_p.V118V	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	130	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GCTACAGTGTATATAGGACGG	0.438																																						ENST00000398602.2																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(352-354)gtA>gtT		N(alpha)-acetyltransferase 20, NatB catalytic subunit							99.0	93.0	95.0					20																	20013236		2203	4300	6503	SO:0001819	synonymous_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20013236A>T	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.390A>T	20.37:g.20013236A>T						NAA20_ENST00000334982.4_Silent_p.V130V|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	p.V118V	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			5	989	+			130			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Silent	SNP	ENST00000334982.4	37	c.354A>T	CCDS13141.1																																																																																				0.438	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		12	62	0	0	0	0.387290	0	12	62				
ADAMTS20	80070	broad.mit.edu	37	12	43824171	43824171	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:43824171C>T	ENST00000389420.3	-	23	3364	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1122	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCACTGGGGCGACTAGCTTC	0.368																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3364-3366)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 20							145.0	124.0	131.0					12																	43824171		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43824171C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3365G>A	12.37:g.43824171C>T	ENSP00000374071:p.Arg1122His					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H	p.R1122H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	23	3364	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1122			TSP type-1 6.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3365G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	c	11.71	1.721074	0.30503	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61980	0.59;0.06;0.06;0.59	5.28	3.44	0.39384	.	0.119152	0.38005	N	0.001858	T	0.69958	0.3169	H	0.94734	3.575	0.43919	D	0.996567	P;P	0.41624	0.757;0.458	B;B	0.41135	0.348;0.066	T	0.73322	-0.4019	10	0.72032	D	0.01	.	7.215	0.25955	0.1287:0.6783:0.1243:0.0687	.	1122;276	P59510;E9PBD5	ATS20_HUMAN;.	H	1122;288;276;1122;1122	ENSP00000374071:R1122H;ENSP00000447427:R288H;ENSP00000378911:R276H;ENSP00000448341:R1122H	ENSP00000374068:R1122H	R	-	2	0	ADAMTS20	42110438	0.902000	0.30710	0.996000	0.52242	0.137000	0.21094	2.842000	0.48230	0.865000	0.35603	0.550000	0.68814	CGC		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	37	0	0	0	0.184627	0	5	37				
FAM120C	54954	broad.mit.edu	37	X	54209176	54209176	+	Silent	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:54209176C>G	ENST00000375180.2	-	1	512	c.456G>C	c.(454-456)gcG>gcC	p.A152A	FAM120C_ENST00000477084.1_Silent_p.A152A|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Silent_p.A152A	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	152							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTGGCACAGCGCTGACAAGT	0.697																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(454-456)gcG>gcC		family with sequence similarity 120C							13.0	13.0	13.0					X																	54209176		2154	4202	6356	SO:0001819	synonymous_variant	54954							g.chrX:54209176C>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.456G>C	X.37:g.54209176C>G						FAM120C_ENST00000477084.1_Silent_p.A152A|FAM120C_ENST00000328235.4_Silent_p.A152A|FAM120C_ENST00000497680.1_5'UTR	p.A152A	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	512	-			152					B2RMT7	Silent	SNP	ENST00000375180.2	37	c.456G>C	CCDS14356.1																																																																																				0.697	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		3	15	0	0	0	0.115264	0	3	15				
CTNNA2	1496	broad.mit.edu	37	2	80782853	80782853	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:80782853A>G	ENST00000402739.4	+	11	1581	c.1576A>G	c.(1576-1578)Ata>Gta	p.I526V	CTNNA2_ENST00000466387.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I560V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I205V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I526V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	526					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGTGTGTGATAGCCCTCCA	0.468																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1576-1578)Ata>Gta		catenin (cadherin-associated protein), alpha 2							73.0	73.0	73.0					2																	80782853		1883	4109	5992	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80782853A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1576A>G	2.37:g.80782853A>G	ENSP00000384638:p.Ile526Val					CTNNA2_ENST00000541047.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I526V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I560V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I205V	p.I526V			P26232	CTNA2_HUMAN			16	2300	+			526					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1576A>G		.	.	.	.	.	.	.	.	.	.	A	16.27	3.075638	0.55646	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	L	0.39245	1.2	0.58432	D	0.999997	B;B;B;B	0.15930	0.0;0.004;0.006;0.015	B;B;B;B	0.14023	0.001;0.007;0.007;0.01	T	0.04635	-1.0937	9	.	.	.	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	158;526;526;526	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	526;526;560;526;526;526;205	ENSP00000418191:I526V;ENSP00000419295:I526V;ENSP00000355398:I560V;ENSP00000384638:I526V;ENSP00000444675:I526V;ENSP00000441705:I526V;ENSP00000341500:I205V	.	I	+	1	0	CTNNA2	80636364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.221000	0.95188	2.232000	0.73038	0.528000	0.53228	ATA		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		3	143	0	0	0	0.115264	0	3	143				
SMARCC2	6601	broad.mit.edu	37	12	56566447	56566447	+	Silent	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:56566447T>C	ENST00000267064.4	-	18	1778	c.1692A>G	c.(1690-1692)aaA>aaG	p.K564K	SMARCC2_ENST00000347471.4_Silent_p.K595K|SMARCC2_ENST00000394023.3_Silent_p.K595K|SMARCC2_ENST00000550164.1_Silent_p.K595K|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	564					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTCTTTGCCTTTGTCAGGAA	0.502																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1783-1785)aaA>aaG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							205.0	186.0	192.0					12																	56566447		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566447T>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1692A>G	12.37:g.56566447T>C						RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.K595K|SMARCC2_ENST00000550164.1_Silent_p.K595K|SMARCC2_ENST00000267064.4_Silent_p.K564K	p.K595K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		19	1890	-			564					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1785A>G	CCDS8907.1																																																																																				0.502	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			61	148	0	0	0	0.870114	0	61	148				
LRIF1	55791	broad.mit.edu	37	1	111494644	111494644	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:111494644G>T	ENST00000369763.4	-	2	1252	c.862C>A	c.(862-864)Cca>Aca	p.P288T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATTTCACTGGAGCAGCTTGA	0.358																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(862-864)Cca>Aca		ligand dependent nuclear receptor interacting factor 1							141.0	134.0	136.0					1																	111494644		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494644G>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.862C>A	1.37:g.111494644G>T	ENSP00000358778:p.Pro288Thr					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	p.P288T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1252	-			288					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.862C>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258331	0.59321	.	.	ENSG00000121931	ENST00000369763	T	0.48836	0.8	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56854	-0.7910	10	0.87932	D	0	-9.0156	17.5047	0.87741	0.0:0.0:1.0:0.0	.	288	Q5T3J3	LRIF1_HUMAN	T	288	ENSP00000358778:P288T	ENSP00000358778:P288T	P	-	1	0	LRIF1	111296167	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.898000	0.69838	2.738000	0.93877	0.591000	0.81541	CCA		0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		72	114	1	0	3.19358e-47	0.870114	4.0442e-47	72	114				
URB2	9816	broad.mit.edu	37	1	229772124	229772124	+	Silent	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:229772124G>C	ENST00000258243.2	+	4	1900	c.1764G>C	c.(1762-1764)ccG>ccC	p.P588P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	588						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P588P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTTCTCCCGGACACCCCAG	0.612																																						ENST00000258243.2																			1	Substitution - coding silent(1)	p.P588P(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1762-1764)ccG>ccC		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							99.0	103.0	102.0					1																	229772124		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772124G>C	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1764G>C	1.37:g.229772124G>C							p.P588P	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1900	+			588					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1764G>C	CCDS31052.1																																																																																				0.612	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	243	0	0	0	0.248553	0	5	243				
FAR2P1	440905	broad.mit.edu	37	2	130792744	130792744	+	RNA	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:130792744G>T	ENST00000325390.3	-	0	2584					NR_026758.1																						TACAGCTAGTGGGAGATTGAC	0.488																																						ENST00000325390.3																			0																																																			440905							g.chr2:130792744G>T																													2.37:g.130792744G>T								NR_026758.1						0	2584	-									RNA	SNP	ENST00000325390.3	37																																																																																						0.488	AC018865.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331630.3			8	68	1	0	5.68852e-11	0.307466	6.9441e-11	8	68				
CYB561A3	220002	broad.mit.edu	37	11	61120500	61120500	+	Missense_Mutation	SNP	C	C	T	rs375115347		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:61120500C>T	ENST00000294072.4	-	5	1182	c.505G>A	c.(505-507)Gca>Aca	p.A169T	CYB561A3_ENST00000426130.2_Missense_Mutation_p.A186T|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169T|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169T	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	169	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.A169T(1)									ATGACGGATGCGATGGACAGA	0.522																																						ENST00000426130.2																			1	Substitution - Missense(1)	p.A169T(1)	large_intestine(1)								c.(556-558)Gca>Aca		cytochrome b561 family, member A3		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	71.0	67.0	69.0		505,556,505	5.0	0.2	11		69	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CYBASC3	NM_001161452.1,NM_001161454.1,NM_153611.4	58,58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	169/243,186/260,169/243	61120500	1,13003	2203	4299	6502	SO:0001583	missense	220002							g.chr11:61120500C>T	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.505G>A	11.37:g.61120500C>T	ENSP00000294072:p.Ala169Thr					CYB561A3_ENST00000294072.4_Missense_Mutation_p.A169T|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169T|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169T	p.A186T	NM_001161454.1	NP_001154926.1					6	1335	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.556G>A	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049213	0.55110	0.0	1.16E-4	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.88	4.96	0.65561	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.303927	0.36740	N	0.002439	T	0.51753	0.1693	M	0.83223	2.63	0.31363	N	0.681109	B;B;B	0.26876	0.162;0.077;0.055	B;B;B	0.22753	0.041;0.014;0.024	T	0.60271	-0.7296	10	0.46703	T	0.11	-12.2098	13.784	0.63099	0.0:0.9282:0.0:0.0718	.	186;169;169	B4DLN9;F5H1Q2;Q8NBI2	.;.;CYAC3_HUMAN	T	186;169;169;169;81;169;169	ENSP00000398979:A186T;ENSP00000294072:A169T;ENSP00000389745:A169T;ENSP00000437390:A169T;ENSP00000441085:A81T;ENSP00000443321:A169T;ENSP00000438725:A169T	ENSP00000294072:A169T	A	-	1	0	CYBASC3	60877076	0.759000	0.28416	0.166000	0.22797	0.443000	0.32047	1.758000	0.38410	1.472000	0.48140	0.561000	0.74099	GCA		0.522	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		16	50	0	0	0	0.592651	0	16	50				
GPR123	84435	broad.mit.edu	37	10	134942077	134942077	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:134942077G>A	ENST00000392607.3	+	7	1181	c.745G>A	c.(745-747)Gag>Aag	p.E249K	GPR123_ENST00000392606.2_Missense_Mutation_p.E152K|GPR123_ENST00000607359.1_Missense_Mutation_p.E968K	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	249					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCTGCAGAACGAGCACTCATT	0.726																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2902-2904)Gag>Aag		G protein-coupled receptor 123							9.0	11.0	10.0					10																	134942077		2180	4273	6453	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942077G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.745G>A	10.37:g.134942077G>A	ENSP00000376384:p.Glu249Lys					GPR123_ENST00000392606.2_Missense_Mutation_p.E152K|GPR123_ENST00000392607.3_Missense_Mutation_p.E249K	p.E968K			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2902	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	249					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2902G>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.361193	0.82353	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.05025	3.51	4.85	4.85	0.62838	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000012	T	0.28134	0.0694	M	0.85373	2.75	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.68483	0.903;0.958	T	0.04294	-1.0962	10	0.72032	D	0.01	-41.0369	15.8223	0.78667	0.0:0.0:1.0:0.0	.	249;968	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	K	968;249;153	ENSP00000376384:E249K	ENSP00000357566:E968K	E	+	1	0	GPR123	134792067	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	8.884000	0.92432	2.419000	0.82065	0.491000	0.48974	GAG		0.726	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			5	3	0	0	0	0.217242	0	5	3				
CYLC2	1539	broad.mit.edu	37	9	105767514	105767514	+	Missense_Mutation	SNP	G	G	C	rs146533245	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:105767514G>C	ENST00000374798.3	+	5	671	c.601G>C	c.(601-603)Gac>Cac	p.D201H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D201H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	201	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAAAGGCAAAGACTCGGCAAC	0.378																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(601-603)Gac>Cac		cylicin, basic protein of sperm head cytoskeleton 2		G	HIS/ASP	10,4396	16.8+/-37.8	0,10,2193	86.0	83.0	84.0		601	4.4	0.0	9	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYLC2	NM_001340.3	81	0,11,6492	CC,CG,GG		0.0116,0.227,0.0846	probably-damaging	201/349	105767514	11,12995	2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767514G>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.601G>C	9.37:g.105767514G>C	ENSP00000420256:p.Asp201His					CYLC2_ENST00000487798.1_Missense_Mutation_p.D201H	p.D201H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			5	671	+		all_hematologic(171;0.125)	201			3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.601G>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025192	0.35701	0.00227	1.16E-4	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16597	2.33;2.33	4.44	4.44	0.53790	.	0.743446	0.11680	N	0.539939	T	0.31606	0.0802	L	0.47190	1.495	0.09310	N	1	D	0.61697	0.99	P	0.57679	0.825	T	0.09751	-1.0660	10	0.66056	D	0.02	-2.1453	14.9639	0.71176	0.0:0.0:1.0:0.0	.	201	Q14093	CYLC2_HUMAN	H	201	ENSP00000420256:D201H;ENSP00000417674:D201H	ENSP00000420256:D201H	D	+	1	0	CYLC2	104807335	0.033000	0.19621	0.008000	0.14137	0.076000	0.17211	1.794000	0.38774	2.462000	0.83206	0.536000	0.68110	GAC		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		5	39	0	0	0	0.184627	0	5	39				
WDR89	112840	broad.mit.edu	37	14	64066011	64066011	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:64066011G>A	ENST00000394942.2	-	2	738	c.650C>T	c.(649-651)tCa>tTa	p.S217L	WDR89_ENST00000267522.3_Missense_Mutation_p.S217L|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	217										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GCTTACTGATGAAATTGAGTT	0.373																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(649-651)tCa>tTa		WD repeat domain 89							109.0	104.0	106.0					14																	64066011		2203	4300	6503	SO:0001583	missense	112840							g.chr14:64066011G>A	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.650C>T	14.37:g.64066011G>A	ENSP00000378399:p.Ser217Leu					WDR89_ENST00000267522.3_Missense_Mutation_p.S217L	p.S217L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	738	-			217						Missense_Mutation	SNP	ENST00000394942.2	37	c.650C>T	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825162	0.90955	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.67698	-0.28;-0.28;1.42	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76157	-0.3062	10	0.27082	T	0.32	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	217	Q96FK6	WDR89_HUMAN	L	217	ENSP00000378399:S217L;ENSP00000267522:S217L;ENSP00000451702:S217L	ENSP00000267522:S217L	S	-	2	0	WDR89	63135764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.048000	0.93830	2.880000	0.98712	0.650000	0.86243	TCA		0.373	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		53	274	0	0	0	0.870114	0	53	274				
FARP1	10160	broad.mit.edu	37	13	99042216	99042216	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:99042216G>A	ENST00000319562.6	+	10	1126	c.861G>A	c.(859-861)gcG>gcA	p.A287A	FARP1_ENST00000595437.1_Silent_p.A287A|FARP1_ENST00000376586.2_Silent_p.A287A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	287	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTAGAGTGCGTACCAGGATA	0.418																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(859-861)gcG>gcA		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							112.0	111.0	111.0					13																	99042216		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99042216G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.861G>A	13.37:g.99042216G>A						FARP1_ENST00000319562.6_Silent_p.A287A|FARP1_ENST00000595437.1_Silent_p.A287A	p.A287A			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1197	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		287			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.861G>A	CCDS9487.1																																																																																				0.418	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		29	272	0	0	0	0.750413	0	29	272				
GAS6	2621	broad.mit.edu	37	13	114535695	114535695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:114535695C>T	ENST00000327773.6	-	9	1011	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	GAS6_ENST00000418959.3_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.A332T|GAS6_ENST00000355761.4_Missense_Mutation_p.A235T|GAS6_ENST00000450766.1_Missense_Mutation_p.A16T	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	332					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACACTCTTGGCCACGCTGAAG	0.667																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(994-996)Gcc>Acc		growth arrest-specific 6							150.0	97.0	115.0					13																	114535695		2202	4294	6496	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535695C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.865G>A	13.37:g.114535695C>T	ENSP00000331831:p.Ala289Thr					GAS6_ENST00000450766.1_Missense_Mutation_p.A16T|GAS6_ENST00000327773.6_Missense_Mutation_p.A289T|GAS6_ENST00000355761.4_Missense_Mutation_p.A235T|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000418959.3_5'UTR|GAS6-AS1_ENST00000458001.1_RNA	p.A332T			Q14393	GAS6_HUMAN			9	1146	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	332					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.994G>A	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164646	0.38217	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000327773	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.75	3.9	0.45041	.	.	.	.	.	T	0.58764	0.2145	L	0.32530	0.975	0.80722	D	1	P;B	0.41784	0.762;0.28	B;B	0.23852	0.049;0.02	T	0.56739	-0.7929	9	0.14656	T	0.56	-43.7078	12.8489	0.57846	0.0:0.9202:0.0:0.0798	.	16;289	B3KVL4;Q14393-2	.;.	T	332;235;16;289	ENSP00000349962:A332T;ENSP00000348003:A235T;ENSP00000416498:A16T;ENSP00000331831:A289T	ENSP00000331831:A289T	A	-	1	0	GAS6	113578248	0.959000	0.32827	0.509000	0.27700	0.816000	0.46133	1.943000	0.40253	0.983000	0.38602	0.462000	0.41574	GCC		0.667	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		8	160	0	0	0	0.335167	0	8	160				
CCDC152	100129792	broad.mit.edu	37	5	42801329	42801329	+	3'UTR	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:42801329A>T	ENST00000361970.5	+	0	2298				SEPP1_ENST00000514985.1_Missense_Mutation_p.H213Q|SEPP1_ENST00000506577.1_Missense_Mutation_p.H213Q|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.M103K|SEPP1_ENST00000511224.1_Missense_Mutation_p.H213Q	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						GCTGATGTCCATGATTGTGAT	0.463																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(637-639)caT>caA		selenoprotein P, plasma, 1							176.0	176.0	176.0					5																	42801329		2142	4264	6406	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42801329A>T		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1446A>T	5.37:g.42801329A>T						SEPP1_ENST00000507920.1_Missense_Mutation_p.M103K|SEPP1_ENST00000511224.1_Missense_Mutation_p.H213Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H213Q	p.H213Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	895	-			213					B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	ENST00000361970.5	37	c.639T>A	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	G	8.825	0.938394	0.18206	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.53	-4.3	0.03710	.	0.896696	0.09362	N	0.812577	T	0.46229	0.1382	M	0.63428	1.95	0.18873	N	0.999985	.	.	.	.	.	.	T	0.50634	-0.8805	8	0.37606	T	0.19	.	8.0873	0.30780	0.4124:0.1958:0.3918:0.0	.	.	.	.	Q	213	ENSP00000420939:H213Q;ENSP00000427671:H213Q;ENSP00000425915:H213Q;ENSP00000421626:H213Q	ENSP00000425915:H213Q	H	-	3	2	SEPP1	42837086	0.000000	0.05858	0.005000	0.12908	0.137000	0.21094	-0.693000	0.05121	-0.843000	0.04189	-4.240000	0.00008	CAT		0.463	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		12	306	0	0	0	0.411799	0	12	306				
TNRC6B	23112	broad.mit.edu	37	22	40660900	40660900	+	Silent	SNP	G	G	A	rs199953986		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:40660900G>A	ENST00000454349.2	+	5	877	c.666G>A	c.(664-666)tcG>tcA	p.S222S	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Silent_p.S222S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	222	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACAGTGCCTCGAACCCTGGCT	0.498																																						ENST00000454349.2																			0				breast(1)	1						c.(664-666)tcG>tcA		trinucleotide repeat containing 6B							106.0	104.0	104.0					22																	40660900		1954	4158	6112	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40660900G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.666G>A	22.37:g.40660900G>A						TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.S222S|TNRC6B_ENST00000402203.1_Intron	p.S222S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	877	+			222					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.666G>A	CCDS54533.1																																																																																				0.498	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				55	105	0	0	0	0.870114	0	55	105				
ADAMTS13	11093	broad.mit.edu	37	9	136324143	136324143	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:136324143G>A	ENST00000371929.3	+	29	4569	c.4125G>A	c.(4123-4125)caG>caA	p.Q1375Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.Q1288Q|ADAMTS13_ENST00000355699.2_Silent_p.Q1319Q|CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000316948.4_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000371910.1_Silent_p.Q171Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1375	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGGGCAGCAGGTGCTCTACT	0.602																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4123-4125)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 13							41.0	39.0	40.0					9																	136324143		2202	4300	6502	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324143G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4125G>A	9.37:g.136324143G>A						ADAMTS13_ENST00000356589.2_Silent_p.Q1288Q|ADAMTS13_ENST00000355699.2_Silent_p.Q1319Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.Q171Q	p.Q1375Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4569	+			1375			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.4125G>A	CCDS6970.1																																																																																				0.602	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		4	70	0	0	0	0.184627	0	4	70				
SLC29A3	55315	broad.mit.edu	37	10	73082800	73082800	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:73082800T>G	ENST00000373189.5	+	2	341	c.289T>G	c.(289-291)Tca>Gca	p.S97A	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	97					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCCTGAGGGCTCAGACATCCT	0.547																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(289-291)Tca>Gca		solute carrier family 29 (equilibrative nucleoside transporter), member 3							41.0	43.0	43.0					10																	73082800		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73082800T>G	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.289T>G	10.37:g.73082800T>G	ENSP00000362285:p.Ser97Ala						p.S97A	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			2	341	+			97					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.289T>G	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.518941	0.27211	.	.	ENSG00000198246	ENST00000373189	T	0.59772	0.24	5.1	2.69	0.31865	.	0.907386	0.09232	N	0.830500	T	0.49609	0.1567	L	0.52905	1.665	0.25222	N	0.989898	B	0.12630	0.006	B	0.06405	0.002	T	0.48115	-0.9063	9	0.22109	T	0.4	-0.0973	7.6355	0.28264	0.139:0.0:0.1455:0.7155	.	97	Q9BZD2	S29A3_HUMAN	A	97	ENSP00000362285:S97A	ENSP00000362285:S97A	S	+	1	0	SLC29A3	72752806	0.775000	0.28604	0.000000	0.03702	0.519000	0.34347	2.690000	0.47001	0.339000	0.23719	0.454000	0.30748	TCA		0.547	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		3	111	0	0	0	0.150653	0	3	111				
COL5A2	1290	broad.mit.edu	37	2	189917666	189917666	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:189917666G>T	ENST00000374866.3	-	39	2906	c.2632C>A	c.(2632-2634)Caa>Aaa	p.Q878K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	878					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTAAACCTTGTGGTCCAGGA	0.463																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2632-2634)Caa>Aaa		collagen, type V, alpha 2							91.0	84.0	86.0					2																	189917666		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917666G>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2632C>A	2.37:g.189917666G>T	ENSP00000364000:p.Gln878Lys						p.Q878K	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2906	-			878					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2632C>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895926	0.72639	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93488	-3.23	5.3	5.3	0.74995	.	0.000000	0.48767	D	0.000166	D	0.93880	0.8042	N	0.20881	0.62	0.80722	D	1	P;D	0.53885	0.846;0.963	P;D	0.71414	0.727;0.973	D	0.92769	0.6230	9	.	.	.	.	19.3175	0.94220	0.0:0.0:1.0:0.0	.	518;878	Q5PR22;P05997	.;CO5A2_HUMAN	K	878;518	ENSP00000364000:Q878K	.	Q	-	1	0	COL5A2	189625911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.805000	0.99149	2.631000	0.89168	0.585000	0.79938	CAA		0.463	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		6	115	1	0	0.0215528	0.217242	0.0222084	6	115				
SRRM2	23524	broad.mit.edu	37	16	2816271	2816271	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:2816271A>T	ENST00000301740.8	+	11	6291	c.5742A>T	c.(5740-5742)agA>agT	p.R1914S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1914	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGGTCAAGAGCATCCCCAG	0.587																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5740-5742)agA>agT		serine/arginine repetitive matrix 2							88.0	89.0	88.0					16																	2816271		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816271A>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5742A>T	16.37:g.2816271A>T	ENSP00000301740:p.Arg1914Ser						p.R1914S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6291	+			1914			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5742A>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	1.984	-0.433393	0.04669	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.25579	1.79	5.46	1.96	0.26148	.	0.000000	0.64402	D	0.000001	T	0.08403	0.0209	N	0.08118	0	0.30914	N	0.728813	B	0.29862	0.259	B	0.28638	0.092	T	0.33777	-0.9855	10	0.05620	T	0.96	-12.653	3.9562	0.09391	0.6077:0.0:0.2468:0.1455	.	1914	Q9UQ35	SRRM2_HUMAN	S	1914;1914;1166	ENSP00000301740:R1914S	ENSP00000301740:R1914S	R	+	3	2	SRRM2	2756272	0.980000	0.34600	0.996000	0.52242	0.925000	0.55904	0.038000	0.13862	0.057000	0.16193	-0.263000	0.10527	AGA		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	122	0	0	0	0.150653	0	4	122				
PLOD2	5352	broad.mit.edu	37	3	145789100	145789100	+	Silent	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:145789100T>A	ENST00000360060.3	-	17	2073	c.1896A>T	c.(1894-1896)ccA>ccT	p.P632P	PLOD2_ENST00000282903.5_Silent_p.P653P|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000461497.1_Silent_p.P313P|PLOD2_ENST00000494950.1_Silent_p.P598P|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	632					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAGTGTAACTGGTGCAATGA	0.403																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1957-1959)ccA>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						123.0	107.0	112.0					3																	145789100		2203	4300	6503	SO:0001819	synonymous_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding	g.chr3:145789100T>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1896A>T	3.37:g.145789100T>A						PLOD2_ENST00000461497.1_Silent_p.P313P|PLOD2_ENST00000360060.3_Silent_p.P632P|PLOD2_ENST00000494950.1_Silent_p.P598P|RP11-274H2.2_ENST00000480247.1_RNA	p.P653P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			18	2136	-			632			Fe2OG dioxygenase.		B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	c.1959A>T	CCDS3131.1																																																																																				0.403	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		4	156	0	0	0	0.150653	0	4	156				
SI	6476	broad.mit.edu	37	3	164772993	164772993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772993C>A	ENST00000264382.3	-	13	1563	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	501	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATCCAAAGTCCATCATATTGC	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1501-1503)Gga>Tga		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						115.0	111.0	112.0					3																	164772993		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164772993C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1501G>T	3.37:g.164772993C>A	ENSP00000264382:p.Gly501*	HNSCC(35;0.089)					p.G501*	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			13	1563	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	501			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.1501G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	39	7.306199	0.98200	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.13	5.13	0.70059	.	0.056027	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5495	0.87872	0.0:1.0:0.0:0.0	.	.	.	.	X	501	.	ENSP00000264382:G501X	G	-	1	0	SI	166255687	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.048000	0.76606	2.368000	0.80403	0.585000	0.79938	GGA		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	203	1	0	0.27861	0.278610	0.280682	8	203				
NR4A3	8013	broad.mit.edu	37	9	102606941	102606941	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:102606941C>G	ENST00000395097.2	+	6	1994	c.1265C>G	c.(1264-1266)aCt>aGt	p.T422S	NR4A3_ENST00000330847.1_Missense_Mutation_p.T433S	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	422					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TACTGTCCCACTGACCAGGCT	0.498			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1297-1299)aCt>aGt		nuclear receptor subfamily 4, group A, member 3							65.0	59.0	61.0					9																	102606941		2203	4300	6503	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102606941C>G	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1265C>G	9.37:g.102606941C>G	ENSP00000378531:p.Thr422Ser					NR4A3_ENST00000395097.2_Missense_Mutation_p.T422S	p.T433S			Q92570	NR4A3_HUMAN			5	1342	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	422					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1298C>G	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	6.349	0.432543	0.12045	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.50277	0.75;0.75	6.17	4.26	0.50523	Nuclear hormone receptor, ligand-binding (2);	0.867908	0.10486	N	0.669029	T	0.30885	0.0779	N	0.22421	0.69	0.30927	N	0.727329	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.10660	-1.0620	10	0.06757	T	0.87	.	11.5884	0.50931	0.0:0.7132:0.217:0.0698	.	433;422	Q92570-3;Q92570	.;NR4A3_HUMAN	S	422;433	ENSP00000378531:T422S;ENSP00000333122:T433S	ENSP00000333122:T433S	T	+	2	0	NR4A3	101646762	0.986000	0.35501	0.998000	0.56505	0.994000	0.84299	2.955000	0.49121	2.941000	0.99782	0.655000	0.94253	ACT		0.498	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			18	77	0	0	0	0.520397	0	18	77				
XXYLT1	152002	broad.mit.edu	37	3	194790731	194790731	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:194790731C>A	ENST00000310380.6	-	4	1003	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S	XXYLT1_ENST00000437101.1_Missense_Mutation_p.A96S|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.A96S|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A153S|XXYLT1_ENST00000356740.5_Missense_Mutation_p.A93S	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	299						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										TGGCGCATGGCCTCCAGGTTC	0.706																																						ENST00000310380.6																			0											c.(895-897)Gcc>Tcc		xyloside xylosyltransferase 1							30.0	35.0	34.0					3																	194790731		1926	4124	6050	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790731C>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.895G>T	3.37:g.194790731C>A	ENSP00000309640:p.Ala299Ser					XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.A93S|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A153S|XXYLT1_ENST00000355729.4_Missense_Mutation_p.A96S|XXYLT1_ENST00000437101.1_Missense_Mutation_p.A96S	p.A299S	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1003	-			299					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.895G>T	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897682	0.52121	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.89	5.89	0.94794	.	0.218404	0.46145	D	0.000311	T	0.24736	0.0600	L	0.39397	1.21	0.40010	D	0.975272	B;B;P	0.42518	0.136;0.029;0.782	B;B;B	0.36378	0.033;0.018;0.223	T	0.02829	-1.1105	10	0.56958	D	0.05	-11.2791	19.2443	0.93896	0.0:1.0:0.0:0.0	.	299;96;93	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	S	299;96;96;153;93	ENSP00000309640:A299S;ENSP00000409865:A96S;ENSP00000347967:A96S;ENSP00000399422:A153S;ENSP00000349179:A93S	ENSP00000309640:A299S	A	-	1	0	C3orf21	196272020	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	3.781000	0.55394	2.797000	0.96272	0.563000	0.77884	GCC		0.706	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		10	119	1	0	2.17888e-05	0.335167	2.45011e-05	10	119				
LITAF	9516	broad.mit.edu	37	16	11650451	11650451	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:11650451C>T	ENST00000571688.1	-	2	366	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	LITAF_ENST00000339430.5_Missense_Mutation_p.G46R|LITAF_ENST00000413364.2_Missense_Mutation_p.G46R|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000574763.1_Missense_Mutation_p.G46R|LITAF_ENST00000570904.1_Missense_Mutation_p.G46R|LITAF_ENST00000571459.1_Missense_Mutation_p.G46R|LITAF_ENST00000381810.3_Missense_Mutation_p.G46R|LITAF_ENST00000576036.1_Missense_Mutation_p.G46R|LITAF_ENST00000571976.1_Missense_Mutation_p.G46R|LITAF_ENST00000574703.1_Missense_Mutation_p.G46R	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	46					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GTCACAAGCCCCGTAGTTGGC	0.567																																						ENST00000571688.1																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						c.(136-138)Ggg>Agg		lipopolysaccharide-induced TNF factor							81.0	75.0	77.0					16																	11650451		2197	4300	6497	SO:0001583	missense	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11650451C>T	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.136G>A	16.37:g.11650451C>T	ENSP00000459533:p.Gly46Arg					LITAF_ENST00000576036.1_Missense_Mutation_p.G46R|LITAF_ENST00000574763.1_Missense_Mutation_p.G46R|LITAF_ENST00000381810.3_Missense_Mutation_p.G46R|LITAF_ENST00000574703.1_Missense_Mutation_p.G46R|LITAF_ENST00000339430.5_Missense_Mutation_p.G46R|LITAF_ENST00000571976.1_Missense_Mutation_p.G46R|LITAF_ENST00000571459.1_Missense_Mutation_p.G46R|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Missense_Mutation_p.G46R|LITAF_ENST00000570904.1_Missense_Mutation_p.G46R	p.G46R	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN			2	366	-			46					D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	c.136G>A	CCDS32386.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134217	0.56828	.	.	ENSG00000189067	ENST00000339430;ENST00000413364;ENST00000381810	D;D;D	0.90563	-2.33;-2.68;-2.69	5.39	5.39	0.77823	.	0.179444	0.36268	N	0.002698	D	0.93284	0.7860	L	0.60455	1.87	0.37438	D	0.914295	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91766	0.5424	10	0.16896	T	0.51	-12.4532	14.6842	0.69037	0.0:1.0:0.0:0.0	.	46;46;46	Q99732-2;G5E9K0;Q99732	.;.;LITAF_HUMAN	R	46	ENSP00000340118:G46R;ENSP00000397958:G46R;ENSP00000371231:G46R	ENSP00000340118:G46R	G	-	1	0	LITAF	11557952	0.974000	0.33945	0.966000	0.40874	0.164000	0.22412	3.398000	0.52579	2.537000	0.85549	0.655000	0.94253	GGG		0.567	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		4	106	0	0	0	0.150653	0	4	106				
ZEB2	9839	broad.mit.edu	37	2	145157513	145157513	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:145157513G>T	ENST00000558170.2	-	8	2425	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ZEB2_ENST00000303660.4_Missense_Mutation_p.P414H|ZEB2_ENST00000539609.3_Missense_Mutation_p.P390H|ZEB2_ENST00000409487.3_Missense_Mutation_p.P414H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCATAAAGGGACTAGTGCC	0.448																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1240-1242)cCc>cAc		zinc finger E-box binding homeobox 2							74.0	79.0	77.0					2																	145157513		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157513G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1241C>A	2.37:g.145157513G>T	ENSP00000454157:p.Pro414His					ZEB2_ENST00000409487.3_Missense_Mutation_p.P414H|ZEB2_ENST00000303660.4_Missense_Mutation_p.P414H|ZEB2_ENST00000539609.3_Missense_Mutation_p.P390H	p.P414H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2425	-			414					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1241C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478559	0.63849	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.14766	2.49;2.48;2.48;2.63;2.63	5.64	5.64	0.86602	.	0.199531	0.53938	D	0.000050	T	0.30916	0.0780	L	0.47190	1.495	0.80722	D	1	D;P;P;D	0.61080	0.985;0.926;0.698;0.989	P;B;B;P	0.60949	0.881;0.401;0.224;0.707	T	0.00647	-1.1628	10	0.87932	D	0	-3.0158	19.7156	0.96119	0.0:0.0:1.0:0.0	.	390;279;413;414	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	H	390;414;414;414;414	ENSP00000443792:P390H;ENSP00000302501:P414H;ENSP00000386854:P414H;ENSP00000395496:P414H;ENSP00000376601:P414H	ENSP00000302501:P414H	P	-	2	0	ZEB2	144873983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.894000	0.87336	2.658000	0.90341	0.655000	0.94253	CCC		0.448	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		6	140	1	0	0.00198382	0.248553	0.00209189	6	140				
COPG2	26958	broad.mit.edu	37	7	130295823	130295823	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295823C>A	ENST00000445977.2	-	9	827	c.738G>T	c.(736-738)ggG>ggT	p.G246G				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					AAGACACTTACCCATCCTCAG	0.368																																						ENST00000445977.2																			0				large_intestine(1)	1						c.(736-738)ggG>ggT		coatomer protein complex, subunit gamma 2							132.0	123.0	126.0					7																	130295823		1851	4103	5954	SO:0001819	synonymous_variant	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130295823C>A	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.738G>T	7.37:g.130295823C>A							p.G246G			Q9UBF2	COPG2_HUMAN			9	827	-	Melanoma(18;0.0435)		246					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Silent	SNP	ENST00000445977.2	37	c.738G>T																																																																																					0.368	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		6	123	1	0	1.76689e-08	0.335167	2.09095e-08	6	123				
PAN3	255967	broad.mit.edu	37	13	28854571	28854571	+	Silent	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28854571A>C	ENST00000380958.3	+	16	2364	c.2212A>C	c.(2212-2214)Agg>Cgg	p.R738R	PAN3_ENST00000282391.5_Silent_p.R426R|PAN3_ENST00000399613.1_Silent_p.R538R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGACCAAAACAGGATGCGAAG	0.373																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1612-1614)Agg>Cgg		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							140.0	124.0	130.0					13																	28854571		2203	4300	6503	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28854571A>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2212A>C	13.37:g.28854571A>C						PAN3_ENST00000380958.3_Silent_p.R738R|PAN3_ENST00000282391.5_Silent_p.R426R	p.R538R			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	15	1675	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	738			Interaction with PAN2.|Protein kinase.			Silent	SNP	ENST00000380958.3	37	c.1612A>C	CCDS9329.2																																																																																				0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		94	85	0	0	0	0.870114	0	94	85				
PRMT3	10196	broad.mit.edu	37	11	20419170	20419170	+	Missense_Mutation	SNP	C	C	T	rs142076035		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:20419170C>T	ENST00000331079.6	+	7	825	c.608C>T	c.(607-609)tCg>tTg	p.S203L	PRMT3_ENST00000437750.2_Missense_Mutation_p.S141L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	203					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGAACCTGCTCGTCATCTACT	0.413																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(607-609)tCg>tTg		protein arginine methyltransferase 3		C	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	175.0	153.0	161.0		422,377,608	6.2	1.0	11	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PRMT3	NM_001145166.1,NM_001145167.1,NM_005788.3	145,145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	141/470,126/455,203/532	20419170	2,13004	2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20419170C>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.608C>T	11.37:g.20419170C>T	ENSP00000331879:p.Ser203Leu					PRMT3_ENST00000437750.2_Missense_Mutation_p.S141L	p.S203L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			7	825	+			203					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.608C>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936406	0.52972	0.0	2.33E-4	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.27256	1.68;1.69	6.17	6.17	0.99709	.	0.534882	0.20323	N	0.094597	T	0.24851	0.0603	L	0.40543	1.245	0.44359	D	0.997259	B;P	0.46142	0.061;0.873	B;B	0.36766	0.063;0.232	T	0.01884	-1.1254	10	0.44086	T	0.13	-2.0041	20.4745	0.99168	0.0:1.0:0.0:0.0	.	141;203	O60678-2;O60678	.;ANM3_HUMAN	L	203;203;141	ENSP00000331879:S203L;ENSP00000397766:S141L	ENSP00000331879:S203L	S	+	2	0	PRMT3	20375746	0.996000	0.38824	0.999000	0.59377	0.972000	0.66771	2.144000	0.42197	2.941000	0.99782	0.655000	0.94253	TCG		0.413	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		87	114	0	0	0	0.870114	0	87	114				
ARID5A	10865	broad.mit.edu	37	2	97218002	97218002	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:97218002C>A	ENST00000357485.3	+	7	1815	c.1737C>A	c.(1735-1737)gtC>gtA	p.V579V	ARID5A_ENST00000454558.2_Silent_p.V511V	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	579					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CACCACCAGTCACAACCTATG	0.617																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(1531-1533)gtC>gtA		AT rich interactive domain 5A (MRF1-like)							77.0	67.0	71.0					2																	97218002		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97218002C>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1737C>A	2.37:g.97218002C>A						ARID5A_ENST00000357485.3_Silent_p.V579V	p.V511V			Q03989	ARI5A_HUMAN			7	2710	+			579					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.1533C>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	6.917	0.538750	0.13250	.	.	ENSG00000196843	ENST00000359765	.	.	.	4.65	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.36013	D	0.838237	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3567	0.21404	0.0:0.4896:0.4055:0.1048	.	.	.	.	X	518	.	ENSP00000352808:S518X	S	+	2	0	ARID5A	96581729	0.029000	0.19370	0.866000	0.34008	0.990000	0.78478	0.884000	0.28214	0.648000	0.30732	0.555000	0.69702	TCA		0.617	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		36	134	1	0	1.69901e-12	0.812448	2.09287e-12	36	134				
HTR7	3363	broad.mit.edu	37	10	92509030	92509030	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:92509030G>A	ENST00000336152.3	-	2	887	c.861C>T	c.(859-861)atC>atT	p.I287I	HTR7_ENST00000277874.6_Silent_p.I287I|HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000371721.3_Silent_p.I287I	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	287					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CATTCAGGGCGATGACGCTGT	0.488																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(859-861)atC>atT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						62.0	54.0	57.0					10																	92509030		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509030G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.861C>T	10.37:g.92509030G>A						HTR7_ENST00000336152.3_Silent_p.I287I|HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000277874.6_Silent_p.I287I	p.I287I			P34969	5HT7R_HUMAN			2	1103	-			287					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.861C>T	CCDS7408.1																																																																																				0.488	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		5	61	0	0	0	0.184627	0	5	61				
CCND1	595	broad.mit.edu	37	11	69462871	69462871	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:69462871C>T	ENST00000227507.2	+	4	911	c.684C>T	c.(682-684)cgC>cgT	p.R228R	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	228					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCTACTACCGCCTCACACGCT	0.612			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(682-684)cgC>cgT		cyclin D1	Arsenic trioxide(DB01169)						115.0	99.0	104.0					11																	69462871		2200	4294	6494	SO:0001819	synonymous_variant	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69462871C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.684C>T	11.37:g.69462871C>T		Multiple Myeloma(6;0.086)				CCND1_ENST00000536559.1_3'UTR	p.R228R	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		4	911	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		228					Q6LEF0	Silent	SNP	ENST00000227507.2	37	c.684C>T	CCDS8191.1																																																																																				0.612	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		13	522	0	0	0	0.435327	0	13	522				
TP53	7157	broad.mit.edu	37	17	7577017	7577017	+	Splice_Site	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7577017A>C	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCTTGCTTACCTCGCTTAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		16	Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(2)	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e8+1	Other conserved DNA damage response genes	tumor protein p53							128.0	112.0	117.0					17																	7577017		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577017A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.919+1T>G	17.37:g.7577017A>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968007	0.18659	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7248	0.28753	0.8139:0.0:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517742	1.000000	0.71417	0.780000	0.31762	0.217000	0.24651	7.280000	0.78610	0.855000	0.35359	0.459000	0.35465	.		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	119	66	0	0	0	0.870114	0	119	66				
EGFL7	51162	broad.mit.edu	37	9	139563027	139563027	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139563027C>T	ENST00000371699.1	+	4	1010	c.99C>T	c.(97-99)gtC>gtT	p.V33V	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.V33V|EGFL7_ENST00000371698.3_Silent_p.V33V|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.V33V			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	33	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTGTGCTGTCCGGGCTCACG	0.677																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(97-99)gtC>gtT		EGF-like-domain, multiple 7							59.0	59.0	59.0					9																	139563027		2203	4295	6498	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563027C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.99C>T	9.37:g.139563027C>T						EGFL7_ENST00000308874.7_Silent_p.V33V|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.V33V|EGFL7_ENST00000406555.3_Silent_p.V33V	p.V33V			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1010	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	33			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.99C>T	CCDS7002.1																																																																																				0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		13	170	0	0	0	0.435327	0	13	170				
RBM19	9904	broad.mit.edu	37	12	114404022	114404022	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114404022A>C	ENST00000545145.2	-	1	89	c.11T>G	c.(10-12)cTg>cGg	p.L4R	RBM19_ENST00000392561.3_Missense_Mutation_p.L4R|RBM19_ENST00000261741.5_Missense_Mutation_p.L4R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	4	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTCACGATCAGTCGCGACAT	0.582											OREG0022146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(10-12)cTg>cGg		RNA binding motif protein 19							87.0	78.0	81.0					12																	114404022		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114404022A>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.11T>G	12.37:g.114404022A>C	ENSP00000442053:p.Leu4Arg		OREG0022146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1457	RBM19_ENST00000392561.3_Missense_Mutation_p.L4R|RBM19_ENST00000261741.5_Missense_Mutation_p.L4R	p.L4R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			1	89	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		4			RRM 1.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.11T>G	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	A	33	5.270995	0.95429	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	D;D;D	0.82526	-1.62;-1.62;-1.62	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	D	0.94886	0.8347	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96884	0.9648	10	0.87932	D	0	-16.1751	16.1193	0.81336	1.0:0.0:0.0:0.0	.	4	Q9Y4C8	RBM19_HUMAN	R	4	ENSP00000442053:L4R;ENSP00000376344:L4R;ENSP00000261741:L4R	ENSP00000261741:L4R	L	-	2	0	RBM19	112888405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.661000	0.83786	2.201000	0.70794	0.533000	0.62120	CTG		0.582	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		4	93	0	0	0	0.217242	0	4	93				
GLDN	342035	broad.mit.edu	37	15	51696666	51696666	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:51696666C>T	ENST00000335449.6	+	10	1427	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	GLDN_ENST00000396399.2_Silent_p.F333F	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	457	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGAGGACATTCTCAGTGGTGC	0.473																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1369-1371)ttC>ttT		gliomedin							166.0	151.0	156.0					15																	51696666		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696666C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1371C>T	15.37:g.51696666C>T						GLDN_ENST00000396399.2_Silent_p.F333F	p.F457F	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1427	+			457			Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.1371C>T	CCDS10140.2																																																																																				0.473	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		13	158	0	0	0	0.411799	0	13	158				
YIPF7	285525	broad.mit.edu	37	4	44631497	44631497	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:44631497C>T	ENST00000332990.5	-	4	437	c.421G>A	c.(421-423)Gat>Aat	p.D141N	YIPF7_ENST00000415895.4_Missense_Mutation_p.D117N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGCTGCCATCTACTGGCTTC	0.403																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(421-423)Gat>Aat		Yip1 domain family, member 7							79.0	85.0	83.0					4																	44631497		1883	4109	5992	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44631497C>T	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.421G>A	4.37:g.44631497C>T	ENSP00000332772:p.Asp141Asn						p.D141N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			4	437	-			141					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.421G>A	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.555323|5.555323	0.96514|0.96514	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.34667|.	1.35|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Yip1 domain (1);|.	0.107759|.	0.64402|.	D|.	0.000009|.	T|T	0.71745|0.71745	0.3376|0.3376	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50272|.	0.933|.	P|.	0.58391|.	0.838|.	T|T	0.68887|0.68887	-0.5290|-0.5290	10|5	0.38643|.	T|.	0.18|.	-5.3167|-5.3167	17.8311|17.8311	0.88683|0.88683	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141|.	Q8N8F6|.	YIPF7_HUMAN|.	N|K	141|117	ENSP00000332772:D141N|.	ENSP00000332772:D141N|.	D|R	-|-	1|2	0|0	YIPF7|YIPF7	44326254|44326254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.601000|7.601000	0.82783|0.82783	2.678000|2.678000	0.91216|0.91216	0.484000|0.484000	0.47621|0.47621	GAT|AGA		0.403	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		3	9	0	0	0	0.115264	0	3	9				
OR13F1	138805	broad.mit.edu	37	9	107267227	107267227	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:107267227C>A	ENST00000334726.2	+	1	773	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTGAGAATCAGCTCAGTGG	0.473																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(682-684)atC>atA		olfactory receptor, family 13, subfamily F, member 1							225.0	202.0	210.0					9																	107267227		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267227C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.684C>A	9.37:g.107267227C>A							p.I228I	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	773	+			228					Q6IF50	Silent	SNP	ENST00000334726.2	37	c.684C>A	CCDS35087.1																																																																																				0.473	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			147	168	1	0	1.35182e-49	0.870114	1.71992e-49	147	168				
ADRA1A	148	broad.mit.edu	37	8	26627907	26627907	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:26627907C>T	ENST00000519229.1	-	2	1166	c.1160G>A	c.(1159-1161)aGg>aAg	p.R387K	ADRA1A_ENST00000380586.1_Missense_Mutation_p.R387K|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	345					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTTGGAGATCCTGTAGAAGGT	0.562																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1159-1161)aGg>aAg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						125.0	121.0	122.0					8																	26627907		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627907C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1160G>A	8.37:g.26627907C>T	ENSP00000430793:p.Arg387Lys					ADRA1A_ENST00000380582.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R387K|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R387K	p.R387K			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2183	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	387	R -> G (in Ref. 9; AAK77197).				Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	C	2.701	-0.270985	0.05716	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.60548	2.18;0.25;0.23;0.18;0.19;0.19	5.96	3.6	0.41247	.	0.495381	0.19454	N	0.113871	T	0.28599	0.0708	N	0.04203	-0.255	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.07309	-1.0779	10	0.07325	T	0.83	.	8.3324	0.32195	0.0:0.2154:0.0:0.7846	.	387;387;387;387	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	K	387	ENSP00000369960:R387K;ENSP00000369956:R387K;ENSP00000430793:R387K;ENSP00000346557:R387K;ENSP00000276393:R387K;ENSP00000369947:R387K	ENSP00000276393:R387K	R	-	2	0	ADRA1A	26683824	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	1.624000	0.37018	0.510000	0.28216	-0.793000	0.03317	AGG		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		14	274	0	0	0	0.520397	0	14	274				
PSG3	5671	broad.mit.edu	37	19	43237075	43237075	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:43237075A>T	ENST00000327495.5	-	3	754	c.570T>A	c.(568-570)acT>acA	p.T190T	PSG3_ENST00000595140.1_Silent_p.T190T|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	190	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCAAGCTGTGAGTCATAGGGA	0.502																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(568-570)acT>acA		pregnancy specific beta-1-glycoprotein 3							243.0	243.0	243.0					19																	43237075		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43237075A>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.570T>A	19.37:g.43237075A>T						PSG3_ENST00000595140.1_Silent_p.T190T	p.T190T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	754	-		Prostate(69;0.00682)	190			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.570T>A	CCDS12611.1																																																																																				0.502	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		128	302	0	0	0	0.870114	0	128	302				
CNPY4	245812	broad.mit.edu	37	7	99720114	99720114	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:99720114C>A	ENST00000262932.3	+	3	388	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	86						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAGACAAGGCTGGAAGAGGC	0.537																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(256-258)Ctg>Atg		canopy FGF signaling regulator 4							120.0	129.0	126.0					7																	99720114		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720114C>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.256C>A	7.37:g.99720114C>A	ENSP00000262932:p.Leu86Met					RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	p.L86M	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			3	388	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		86					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.256C>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811041	0.70797	.	.	ENSG00000166997	ENST00000262932	T	0.56776	0.44	5.39	4.51	0.55191	.	0.000000	0.64402	D	0.000002	T	0.73613	0.3609	M	0.87038	2.855	0.49389	D	0.999789	D	0.89917	1.0	D	0.97110	1.0	T	0.77262	-0.2653	10	0.87932	D	0	-7.6548	10.2947	0.43616	0.0:0.9085:0.0:0.0915	.	86	Q8N129	CNPY4_HUMAN	M	86	ENSP00000262932:L86M	ENSP00000262932:L86M	L	+	1	2	CNPY4	99558050	0.995000	0.38212	0.997000	0.53966	0.957000	0.61999	2.505000	0.45424	1.263000	0.44181	-0.254000	0.11334	CTG		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		6	262	1	0	0.0215528	0.217242	0.0222084	6	262				
CPT1C	126129	broad.mit.edu	37	19	50210775	50210775	+	Splice_Site	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:50210775C>T	ENST00000392518.4	+	13	1716	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R	CPT1C_ENST00000354199.5_Splice_Site_p.R448R|CPT1C_ENST00000598293.1_Splice_Site_p.R448R|CPT1C_ENST00000323446.5_Splice_Site_p.R448R|CPT1C_ENST00000405931.2_Splice_Site_p.R437R	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	448					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCCTGACAGCTGGTTTGACA	0.562																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e13-1		carnitine palmitoyltransferase 1C							102.0	89.0	93.0					19																	50210775		2203	4300	6503	SO:0001630	splice_region_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50210775C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1344-1C>T	19.37:g.50210775C>T						CPT1C_ENST00000323446.5_Splice_Site_p.R448_splice|CPT1C_ENST00000354199.5_Splice_Site_p.R448_splice|CPT1C_ENST00000598293.1_Splice_Site_p.R448_splice|CPT1C_ENST00000405931.2_Splice_Site_p.R437_splice	p.R448_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	13	1716	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	448					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.1343_splice	CCDS12779.1																																																																																				0.562	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	Silent	4	56	0	0	0	0.184627	0	4	56				
ABCG8	64241	broad.mit.edu	37	2	44073294	44073294	+	Splice_Site	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:44073294G>C	ENST00000272286.2	+	3	256	c.166G>C	c.(166-168)Gtg>Ctg	p.V56L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	56	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCCCACAGGTGGACCTGGC	0.552																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.e3-1		ATP-binding cassette, sub-family G (WHITE), member 8							65.0	66.0	66.0					2																	44073294		2203	4300	6503	SO:0001630	splice_region_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44073294G>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.166-1G>C	2.37:g.44073294G>C							p.V56_splice	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			3	256	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	56			ABC transporter.		Q53QN8	Splice_Site	SNP	ENST00000272286.2	37	c.165_splice	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049785	0.36181	.	.	ENSG00000143921	ENST00000272286	D	0.87966	-2.32	5.7	3.8	0.43715	ABC transporter-like (1);	0.250573	0.39341	N	0.001395	T	0.77519	0.4142	N	0.20986	0.625	0.80722	D	1	B;B	0.25904	0.137;0.084	B;B	0.28305	0.088;0.04	T	0.70920	-0.4741	9	.	.	.	.	11.1083	0.48216	0.0694:0.1286:0.802:0.0	.	56;56	Q9H221-2;Q9H221	.;ABCG8_HUMAN	L	56	ENSP00000272286:V56L	.	V	+	1	0	ABCG8	43926798	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	5.072000	0.64389	1.414000	0.47017	0.655000	0.94253	GTG		0.552	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	Missense_Mutation	3	111	0	0	0	0.115264	0	3	111				
BST1	683	broad.mit.edu	37	4	15709251	15709251	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:15709251C>G	ENST00000265016.4	+	3	628	c.433C>G	c.(433-435)Cga>Gga	p.R145G	BST1_ENST00000382346.3_Missense_Mutation_p.R160G	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	145			R -> Q (in dbSNP:rs2302464).		humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAGCTGGTGTCGACAGAAAAA	0.438																																						ENST00000382346.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(478-480)Cga>Gga		bone marrow stromal cell antigen 1							117.0	112.0	114.0					4																	15709251		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15709251C>G	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.433C>G	4.37:g.15709251C>G	ENSP00000265016:p.Arg145Gly					BST1_ENST00000265016.4_Missense_Mutation_p.R145G	p.R160G			Q10588	BST1_HUMAN			4	527	+			145					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.478C>G	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	C	0.823	-0.747874	0.03065	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.07216	3.21;3.21	5.62	3.88	0.44766	.	0.124747	0.53938	N	0.000054	T	0.03263	0.0095	N	0.04805	-0.155	0.39981	D	0.974911	B	0.18166	0.026	B	0.15484	0.013	T	0.33854	-0.9852	10	0.02654	T	1	-4.1085	8.9909	0.36024	0.1671:0.6719:0.1609:0.0	.	145	Q10588	BST1_HUMAN	G	145;160	ENSP00000265016:R145G;ENSP00000371783:R160G	ENSP00000265016:R145G	R	+	1	2	BST1	15318349	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	0.632000	0.24583	0.715000	0.32103	0.591000	0.81541	CGA		0.438	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		54	115	0	0	0	0.870114	0	54	115				
RBM19	9904	broad.mit.edu	37	12	114358415	114358415	+	Splice_Site	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114358415C>A	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					cTTCACTTTACCTGGAGCTGC	0.517																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.e19+1		RNA binding motif protein 19							242.0	242.0	242.0					12																	114358415		2203	4300	6503	SO:0001630	splice_region_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114358415C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2385+1G>T	12.37:g.114358415C>A						RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site		NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			19	2464	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)							A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	SNP	ENST00000545145.2	37		CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334625	0.60853	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2632	0.73640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM19	112842798	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	6.086000	0.71352	2.322000	0.78497	0.462000	0.41574	.		0.517	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Intron	23	422	1	0	0.00047179	0.654019	0.000513474	23	422				
ARAP3	64411	broad.mit.edu	37	5	141041799	141041799	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141041799G>A	ENST00000239440.4	-	20	2889	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R604W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	942	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCCTTTCCGGTATACACCT	0.657																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2824-2826)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							52.0	55.0	54.0					5																	141041799		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041799G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2824C>T	5.37:g.141041799G>A	ENSP00000239440:p.Arg942Trp					ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.R604W	p.R942W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			20	2889	-			942			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2824C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151019	0.78001	.	.	ENSG00000120318	ENST00000239440;ENST00000513878	T;T	0.52754	0.65;0.65	5.27	3.39	0.38822	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	H	0.97587	4.035	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86658	0.1902	10	0.87932	D	0	.	14.1246	0.65213	0.0:0.0:0.7277:0.2723	.	604;942	B4DIT1;Q8WWN8	.;ARAP3_HUMAN	W	942;604	ENSP00000239440:R942W;ENSP00000421468:R604W	ENSP00000239440:R942W	R	-	1	2	ARAP3	141021983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.562000	0.36353	1.430000	0.47334	0.650000	0.86243	CGG		0.657	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		38	88	0	0	0	0.827153	0	38	88				
SNHG14	104472715	broad.mit.edu	37	15	25490683	25490683	+	RNA	SNP	C	C	G	rs371302809		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:25490683C>G	ENST00000453082.2	+	0	2719				SNORD115-40_ENST00000606510.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAAAATCATGCTCAATAGGAT	0.498																																						ENST00000453082.2																			0																				489.0	473.0	478.0					15																	25490683		876	1991	2867			104472715							g.chr15:25490683C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25490683C>G						SNORD115-41_ENST00000363608.1_RNA		NR_003343.1						0	2719	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.498	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			71	368	0	0	0	0.870114	0	71	368				
RNF14	9604	broad.mit.edu	37	5	141358230	141358230	+	Silent	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141358230T>C	ENST00000394520.2	+	5	978	c.669T>C	c.(667-669)tgT>tgC	p.C223C	RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000347642.3_Silent_p.C223C|RNF14_ENST00000394519.1_Silent_p.C223C|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.C97C|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000356143.1_Silent_p.C223C	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	223					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCAGTATCTGTTTCTGTGAGA	0.413																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(667-669)tgT>tgC		ring finger protein 14							138.0	136.0	136.0					5																	141358230		2203	4300	6503	SO:0001819	synonymous_variant	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141358230T>C	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.669T>C	5.37:g.141358230T>C						AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.C97C|RNF14_ENST00000356143.1_Silent_p.C223C|RNF14_ENST00000347642.3_Silent_p.C223C|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Silent_p.C223C|RNF14_ENST00000540015.1_Intron	p.C223C	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	5	978	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	223					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	c.669T>C	CCDS4270.1																																																																																				0.413	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		50	93	0	0	0	0.870114	0	50	93				
HAPLN2	60484	broad.mit.edu	37	1	156594410	156594410	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:156594410G>C	ENST00000255039.1	+	6	981	c.574G>C	c.(574-576)Gac>Cac	p.D192H	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	192	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGGTCTGGACTGGTGTAA	0.726																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(574-576)Gac>Cac		hyaluronan and proteoglycan link protein 2							15.0	17.0	16.0					1																	156594410		2199	4295	6494	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156594410G>C	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.574G>C	1.37:g.156594410G>C	ENSP00000255039:p.Asp192His					HAPLN2_ENST00000494218.1_3'UTR	p.D192H	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			6	981	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		192			Link 1.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.574G>C	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663346	0.47572	.	.	ENSG00000132702	ENST00000255039;ENST00000544775	T	0.10860	2.83	4.19	4.19	0.49359	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.02313	-1.1178	10	0.26408	T	0.33	-35.81	15.6141	0.76750	0.0:0.0:1.0:0.0	.	192	Q9GZV7	HPLN2_HUMAN	H	192;165	ENSP00000255039:D192H	ENSP00000255039:D192H	D	+	1	0	HAPLN2	154861034	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	1.617000	0.36943	2.319000	0.78375	0.563000	0.77884	GAC		0.726	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		4	34	0	0	0	0.248553	0	4	34				
FLT3	2322	broad.mit.edu	37	13	28599056	28599056	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28599056C>T	ENST00000241453.7	-	18	2313	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FLT3_ENST00000380982.4_Silent_p.Q744Q|FLT3_ENST00000537084.1_Silent_p.Q744Q	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	744	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGTGTATCTGAACTTCTC	0.308			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2230-2232)caG>caA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						114.0	122.0	119.0					13																	28599056		2202	4300	6502	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28599056C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2232G>A	13.37:g.28599056C>T						FLT3_ENST00000241453.7_Silent_p.Q744Q|FLT3_ENST00000537084.1_Silent_p.Q744Q	p.Q744Q			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	18	2313	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	744			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2232G>A	CCDS31953.1																																																																																				0.308	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			143	112	0	0	0	0.870114	0	143	112				
SLITRK5	26050	broad.mit.edu	37	13	88327784	88327784	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:88327784C>A	ENST00000325089.6	+	2	360	c.141C>A	c.(139-141)atC>atA	p.I47I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	47					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGGGAAATCTGTGACAATG	0.458																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(139-141)atC>atA		SLIT and NTRK-like family, member 5							171.0	145.0	154.0					13																	88327784		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327784C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.141C>A	13.37:g.88327784C>A						SLITRK5_ENST00000400028.3_Intron	p.I47I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	360	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		47					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.141C>A	CCDS9465.1																																																																																				0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			98	124	1	0	2.5264e-35	0.870114	3.18444e-35	98	124				
GK2	2712	broad.mit.edu	37	4	80328069	80328069	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:80328069G>T	ENST00000358842.3	-	1	1303	c.1286C>A	c.(1285-1287)aCc>aAc	p.T429N		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTTGTTGTTGGTCATTCCTCC	0.428																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1285-1287)aCc>aAc		glycerol kinase 2							129.0	122.0	125.0					4																	80328069		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328069G>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1286C>A	4.37:g.80328069G>T	ENSP00000351706:p.Thr429Asn						p.T429N	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1303	-			429					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1286C>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217223	0.39201	.	.	ENSG00000196475	ENST00000358842	D	0.85258	-1.96	4.21	4.21	0.49690	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96209	0.9151	10	0.87932	D	0	-14.1892	14.8681	0.70434	0.0:0.0:1.0:0.0	.	429	Q14410	GLPK2_HUMAN	N	429	ENSP00000351706:T429N	ENSP00000351706:T429N	T	-	2	0	GK2	80547093	1.000000	0.71417	0.737000	0.30932	0.047000	0.14425	6.915000	0.75770	2.631000	0.89168	0.585000	0.79938	ACC		0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		45	103	1	0	1.76056e-25	0.859065	2.19867e-25	45	103				
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	rs200600060		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101.0	107.0	105.0		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		5	276	0	0	0	0.217242	0	5	276				
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2182-2184)Gca>Aca		leucine-rich repeats and calponin homology (CH) domain containing 1							181.0	181.0	181.0					13																	47315978		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47315978G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2182G>A	13.37:g.47315978G>A	ENSP00000374448:p.Ala728Thr					LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	p.A728T	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2379	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	728					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.2182G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716906	0.68844	.	.	ENSG00000136141	ENST00000389798;ENST00000389797	T;T	0.56611	0.52;0.45	5.62	0.916	0.19373	.	0.366355	0.23049	N	0.052519	T	0.27967	0.0689	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.18555	-1.0333	10	0.87932	D	0	-7.3087	6.6356	0.22881	0.2679:0.1182:0.6139:0.0	.	763;728	F8W6F0;Q9Y2L9	.;LRCH1_HUMAN	T	728;763	ENSP00000374448:A728T;ENSP00000374447:A763T	ENSP00000374447:A763T	A	+	1	0	LRCH1	46213979	0.006000	0.16342	0.000000	0.03702	0.900000	0.52787	0.371000	0.20450	-0.072000	0.12864	-0.145000	0.13849	GCA		0.502	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		7	438	0	0	0	0.248553	0	7	438				
CEP170	9859	broad.mit.edu	37	1	243354341	243354341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:243354341C>A	ENST00000366542.1	-	8	1138	c.1087G>T	c.(1087-1089)Gtg>Ttg	p.V363L	CEP170_ENST00000366544.1_Missense_Mutation_p.V363L|CEP170_ENST00000366543.1_Missense_Mutation_p.V363L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	363						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCAAGTACACTGGAACATCA	0.363																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1087-1089)Gtg>Ttg		centrosomal protein 170kDa							16.0	16.0	16.0					1																	243354341		1812	4058	5870	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243354341C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1087G>T	1.37:g.243354341C>A	ENSP00000355500:p.Val363Leu					CEP170_ENST00000366543.1_Missense_Mutation_p.V363L|CEP170_ENST00000366544.1_Missense_Mutation_p.V363L	p.V363L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	1138	-	all_neural(11;0.101)	all_cancers(173;0.003)	363					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1087G>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.518322|4.518322	0.85495|0.85495	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	.|T;T;T	.|0.55760	.|0.5;0.56;0.56	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71634|0.71634	0.3363|0.3363	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.89917	.|0.996;0.537;1.0	.|D;P;D	.|0.81914	.|0.995;0.583;0.994	T|T	0.75360|0.75360	-0.3345|-0.3345	5|10	.|0.72032	.|D	.|0.01	-13.0717|-13.0717	18.1223|18.1223	0.89576|0.89576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|363;363;363	.|Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;CE170_HUMAN	H|L	264|363;363;363;261	.|ENSP00000355500:V363L;ENSP00000355502:V363L;ENSP00000355501:V363L	.|ENSP00000355500:V363L	Q|V	-|-	3|1	2|0	CEP170|CEP170	241420964|241420964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.484000|7.484000	0.81180|0.81180	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	CAG|GTG		0.363	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	23	1	0	0.00909568	0.150653	0.00944417	3	23				
TERF2	7014	broad.mit.edu	37	16	69419369	69419369	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:69419369C>T	ENST00000254942.3	-	2	416	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	TERF2_ENST00000603068.1_Missense_Mutation_p.G92R|TERF2_ENST00000567296.2_Missense_Mutation_p.G134R|TERF2_ENST00000569611.2_5'UTR	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	134	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TGCTCCTTCCCCAAGGGCCTG	0.587																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(400-402)Ggg>Agg		telomeric repeat binding factor 2							128.0	128.0	128.0					16																	69419369		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69419369C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.400G>A	16.37:g.69419369C>T	ENSP00000254942:p.Gly134Arg					TERF2_ENST00000603068.1_Missense_Mutation_p.G92R|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.G134R	p.G134R	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			2	416	-		Ovarian(137;0.101)	92			TRFH dimerization.			Missense_Mutation	SNP	ENST00000254942.3	37	c.400G>A		.	.	.	.	.	.	.	.	.	.	C	13.78	2.338435	0.41398	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.01	4.06	0.47325	Telomere repeat-binding factor, dimerisation domain (4);	0.257079	0.39341	N	0.001393	T	0.33760	0.0874	N	0.08118	0	0.32667	N	0.517365	P;D	0.56968	0.917;0.978	B;P	0.53912	0.369;0.737	T	0.48375	-0.9041	9	0.51188	T	0.08	-14.7448	10.9399	0.47268	0.0:0.9138:0.0:0.0862	.	92;92	Q15554-2;Q15554	.;TERF2_HUMAN	R	92	.	ENSP00000254942:G92R	G	-	1	0	TERF2	67976870	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	2.154000	0.42291	1.343000	0.45638	0.551000	0.68910	GGG		0.587	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			8	216	0	0	0	0.307466	0	8	216				
RAPGEFL1	51195	broad.mit.edu	37	17	38340838	38340838	+	Silent	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:38340838A>G	ENST00000456989.2	+	4	334	c.288A>G	c.(286-288)ctA>ctG	p.L96L	RAPGEFL1_ENST00000544503.1_Silent_p.L90L|RAPGEFL1_ENST00000436615.3_Silent_p.L41L|RAPGEFL1_ENST00000264644.6_Silent_p.L41L|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	247	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCCAGGATCTATACCTGCTAA	0.552																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(121-123)ctA>ctG		Rap guanine nucleotide exchange factor (GEF)-like 1							36.0	29.0	32.0					17																	38340838		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38340838A>G	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.288A>G	17.37:g.38340838A>G						RAPGEFL1_ENST00000544503.1_Silent_p.L90L|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Silent_p.L41L|RAPGEFL1_ENST00000456989.2_Silent_p.L96L	p.L41L	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			4	613	+			247			Gly-rich.			Silent	SNP	ENST00000456989.2	37	c.123A>G																																																																																					0.552	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		3	15	0	0	0	0.115264	0	3	15				
GCM2	9247	broad.mit.edu	37	6	10874289	10874289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:10874289G>A	ENST00000379491.4	-	5	1607	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	487					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGACTGCGGAGCCCAGCCC	0.522																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1459-1461)tCc>tTc		glial cells missing homolog 2 (Drosophila)							75.0	70.0	72.0					6																	10874289		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874289G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1460C>T	6.37:g.10874289G>A	ENSP00000368805:p.Ser487Phe					RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.S487F	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1607	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	487					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.1460C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320332	0.23994	.	.	ENSG00000124827	ENST00000379491	T	0.70986	-0.53	5.27	3.5	0.40072	.	0.935317	0.09165	N	0.839693	T	0.46964	0.1420	M	0.62723	1.935	0.09310	N	1	P	0.44877	0.845	B	0.36845	0.234	T	0.34825	-0.9813	10	0.46703	T	0.11	-7.5346	8.4778	0.33023	0.1532:0.1321:0.7147:0.0	.	487	O75603	GCM2_HUMAN	F	487	ENSP00000368805:S487F	ENSP00000368805:S487F	S	-	2	0	GCM2	10982275	0.000000	0.05858	0.192000	0.23308	0.205000	0.24178	0.736000	0.26130	0.327000	0.23409	-1.273000	0.01405	TCC		0.522	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			10	128	0	0	0	0.411799	0	10	128				
CNTNAP2	26047	broad.mit.edu	37	7	147259261	147259261	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:147259261A>T	ENST00000361727.3	+	12	2325	c.1809A>T	c.(1807-1809)aaA>aaT	p.K603N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	603	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGCCTACAAACACCTAGGAC	0.448										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1807-1809)aaA>aaT		contactin associated protein-like 2							111.0	106.0	108.0					7																	147259261		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259261A>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1809A>T	7.37:g.147259261A>T	ENSP00000354778:p.Lys603Asn	HNSCC(39;0.1)					p.K603N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2325	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	603			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1809A>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029975	0.75504	.	.	ENSG00000174469	ENST00000361727	T	0.14893	2.47	5.93	2.24	0.28232	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	D	0.000002	T	0.21841	0.0526	M	0.70842	2.15	0.80722	D	1	P	0.39044	0.656	B	0.42555	0.391	T	0.01252	-1.1405	10	0.52906	T	0.07	.	7.9925	0.30248	0.6505:0.0:0.3495:0.0	.	603	Q9UHC6	CNTP2_HUMAN	N	603	ENSP00000354778:K603N	ENSP00000354778:K603N	K	+	3	2	CNTNAP2	146890194	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.149000	0.31626	0.138000	0.18790	0.533000	0.62120	AAA		0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	113	0	0	0	0.520397	0	18	113				
CABIN1	23523	broad.mit.edu	37	22	24447311	24447311	+	Silent	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:24447311G>T	ENST00000398319.2	+	8	1066	c.681G>T	c.(679-681)tcG>tcT	p.S227S	CABIN1_ENST00000263119.5_Silent_p.S227S|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	227					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGATGTTTCGGTGAGTGCAG	0.463																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(679-681)tcG>tcT		calcineurin binding protein 1							121.0	109.0	113.0					22																	24447311		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24447311G>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.681G>T	22.37:g.24447311G>T						CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Silent_p.S227S	p.S227S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			8	1066	+			227					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.681G>T	CCDS13823.1																																																																																				0.463	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	106	1	0	0.115264	0.115264	0.117874	3	106				
OR6F1	343169	broad.mit.edu	37	1	247875881	247875881	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:247875881C>A	ENST00000302084.2	-	1	224	c.177G>T	c.(175-177)atG>atT	p.M59I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAGAAGTACATGGGGGTAT	0.478																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(175-177)atG>atT		olfactory receptor, family 6, subfamily F, member 1							115.0	112.0	113.0					1																	247875881		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875881C>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.177G>T	1.37:g.247875881C>A	ENSP00000305640:p.Met59Ile					RP11-634B7.4_ENST00000449298.1_RNA	p.M59I	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	224	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		59					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.177G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459412	0.26248	.	.	ENSG00000169214	ENST00000302084	T	0.09350	2.99	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.25005	0.0607	H	0.95365	3.66	0.39810	D	0.972689	B	0.30406	0.278	B	0.24155	0.051	T	0.43686	-0.9376	10	0.87932	D	0	-48.8607	15.174	0.72896	0.0:1.0:0.0:0.0	.	59	Q8NGZ6	OR6F1_HUMAN	I	59	ENSP00000305640:M59I	ENSP00000305640:M59I	M	-	3	0	OR6F1	245942504	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	4.666000	0.61554	2.209000	0.71365	0.591000	0.81541	ATG		0.478	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		8	128	1	0	1.12685e-05	0.307466	1.2724e-05	8	128				
CHD7	55636	broad.mit.edu	37	8	61778180	61778180	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:61778180C>T	ENST00000423902.2	+	38	9161	c.8682C>T	c.(8680-8682)ctC>ctT	p.L2894L	CHD7_ENST00000524602.1_Silent_p.L845L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2894					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCCTTTCCTCCTGTCCACAA	0.587																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123	GRCh37	CI075607	CHD7	I		c.(8680-8682)ctC>ctT		chromodomain helicase DNA binding protein 7							97.0	103.0	101.0					8																	61778180		2054	4201	6255	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778180C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8682C>T	8.37:g.61778180C>T						CHD7_ENST00000524602.1_Silent_p.L845L	p.L2894L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9161	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2894					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.8682C>T	CCDS47865.1																																																																																				0.587	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		26	113	0	0	0	0.706142	0	26	113				
DNAH10	196385	broad.mit.edu	37	12	124297944	124297944	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:124297944G>A	ENST00000409039.3	+	19	3049	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1008	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTATTGTGATGGAGAAATTTG	0.403																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3022-3024)atG>atA		dynein, axonemal, heavy chain 10							143.0	138.0	140.0					12																	124297944		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297944G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3024G>A	12.37:g.124297944G>A	ENSP00000386770:p.Met1008Ile						p.M1008I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3049	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1008			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3024G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646537	0.14451	.	.	ENSG00000197653	ENST00000409039	T	0.19105	2.17	5.83	5.83	0.93111	.	0.132495	0.49305	D	0.000153	T	0.16811	0.0404	L	0.41415	1.275	0.45005	D	0.998023	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.001	T	0.04678	-1.0934	10	0.05525	T	0.97	.	15.293	0.73882	0.0686:0.0:0.9314:0.0	.	1008;883;1008	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	I	1008	ENSP00000386770:M1008I	ENSP00000386770:M1008I	M	+	3	0	DNAH10	122863897	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.478000	0.60230	2.763000	0.94921	0.563000	0.77884	ATG		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			10	197	0	0	0	0.361761	0	10	197				
PKD1L1	168507	broad.mit.edu	37	7	47933651	47933651	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:47933651C>A	ENST00000289672.2	-	15	2327	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	759	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTTCAATCTGAACCTGCA	0.547																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(2275-2277)caG>caT		polycystic kidney disease 1 like 1							76.0	60.0	66.0					7																	47933651		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933651C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2277G>T	7.37:g.47933651C>A	ENSP00000289672:p.Gln759His						p.Q759H	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2327	-			759			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2277G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.121916	0.37436	.	.	ENSG00000158683	ENST00000289672	T	0.69926	-0.44	5.23	1.8	0.24995	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.48286	D	0.000183	T	0.74160	0.3680	M	0.61703	1.905	0.26689	N	0.971395	D	0.89917	1.0	D	0.81914	0.995	T	0.63902	-0.6532	10	0.62326	D	0.03	-12.6629	6.4167	0.21719	0.0:0.4051:0.0:0.5949	.	759	Q8TDX9	PK1L1_HUMAN	H	759	ENSP00000289672:Q759H	ENSP00000289672:Q759H	Q	-	3	2	PKD1L1	47900176	0.998000	0.40836	0.360000	0.25837	0.274000	0.26718	0.475000	0.22164	0.182000	0.20032	0.543000	0.68304	CAG		0.547	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		23	183	1	0	2.89027e-11	0.624587	3.54417e-11	23	183				
KMT2D	8085	broad.mit.edu	37	12	49425942	49425942	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:49425942C>A	ENST00000301067.7	-	39	12545	c.12546G>T	c.(12544-12546)ggG>ggT	p.G4182G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4182	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3912fs(2)|p.G4182fs(2)									GCAGACCCTGCCCAGACTGGA	0.592																																						ENST00000301067.7																			4	Complex(4)	p.G3912fs(2)|p.G4182fs(2)	central_nervous_system(4)								c.(12544-12546)ggG>ggT		lysine (K)-specific methyltransferase 2D							80.0	77.0	78.0					12																	49425942		2022	4182	6204	SO:0001819	synonymous_variant	8085							g.chr12:49425942C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12546G>T	12.37:g.49425942C>A							p.G4182G	NM_003482.3	NP_003473.3					39	12545	-								O14687	Silent	SNP	ENST00000301067.7	37	c.12546G>T	CCDS44873.1																																																																																				0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	127	1	0	0.248553	0.248553	0.251335	6	127				
LUC7L3	51747	broad.mit.edu	37	17	48823139	48823139	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:48823139A>T	ENST00000505658.1	+	8	941	c.752A>T	c.(751-753)aAg>aTg	p.K251M	LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	251	Arg/Ser-rich.|Glu-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAAGGAGaagcaagaaaga	0.373																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(751-753)aAg>aTg		LUC7-like 3 (S. cerevisiae)							29.0	30.0	30.0					17																	48823139		2180	4284	6464	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48823139A>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.752A>T	17.37:g.48823139A>T	ENSP00000425092:p.Lys251Met					LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251M	p.K251M			O95232	LC7L3_HUMAN			8	941	+			251			Arg/Ser-rich.|Glu-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.752A>T	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011943	0.54468	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	T;T;T;T	0.64803	1.24;-0.12;1.24;1.53	5.95	4.88	0.63580	.	0.170990	0.49916	D	0.000137	T	0.54415	0.1857	N	0.08118	0	0.53005	D	0.999962	P;P;P	0.49185	0.92;0.801;0.801	P;P;P	0.57425	0.82;0.653;0.653	T	0.59048	-0.7527	10	0.52906	T	0.07	-9.8442	8.955	0.35812	0.857:0.0:0.143:0.0	.	175;251;251	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	M	251;251;251;175	ENSP00000425092:K251M;ENSP00000376919:K251M;ENSP00000240304:K251M;ENSP00000444253:K175M	ENSP00000240304:K251M	K	+	2	0	LUC7L3	46178138	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	3.385000	0.52485	1.084000	0.41184	0.533000	0.62120	AAG		0.373	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		5	13	0	0	0	0.184627	0	5	13				
NPC1L1	29881	broad.mit.edu	37	7	44579253	44579253	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:44579253C>A	ENST00000289547.4	-	2	798	c.743G>T	c.(742-744)gGt>gTt	p.G248V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G248V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G248V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G248V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	248					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACGTCGTCACCTTGGGACTC	0.627																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(742-744)gGt>gTt		NPC1-like 1	Ezetimibe(DB00973)						67.0	63.0	64.0					7																	44579253		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579253C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.743G>T	7.37:g.44579253C>A	ENSP00000289547:p.Gly248Val					NPC1L1_ENST00000423141.1_Missense_Mutation_p.G248V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G248V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G248V	p.G248V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	798	-			248					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.743G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	8.796	0.931673	0.18131	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.46	2.62	0.31277	.	0.566257	0.19759	N	0.106712	D	0.92202	0.7527	M	0.81682	2.555	0.27805	N	0.942332	P;D;D;D	0.89917	0.756;1.0;0.976;0.994	B;D;P;P	0.74674	0.302;0.984;0.617;0.827	D	0.83726	0.0195	10	0.16420	T	0.52	-19.182	7.6964	0.28598	0.0:0.7397:0.1653:0.095	.	248;248;248;248	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	V	248	ENSP00000289547:G248V;ENSP00000370552:G248V;ENSP00000438033:G248V;ENSP00000404670:G248V	ENSP00000289547:G248V	G	-	2	0	NPC1L1	44545778	0.000000	0.05858	0.063000	0.19743	0.169000	0.22640	-0.570000	0.05895	0.328000	0.23435	0.455000	0.32223	GGT		0.627	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	194	1	0	0.248553	0.248553	0.251335	7	194				
PCLO	27445	broad.mit.edu	37	7	82584021	82584021	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:82584021G>T	ENST00000333891.9	-	5	6585	c.6248C>A	c.(6247-6249)aCc>aAc	p.T2083N	PCLO_ENST00000423517.2_Missense_Mutation_p.T2083N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCCTGGGTTGGGCTAGA	0.463																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6247-6249)aCc>aAc		piccolo presynaptic cytomatrix protein							89.0	86.0	87.0					7																	82584021		1927	4127	6054	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584021G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6248C>A	7.37:g.82584021G>T	ENSP00000334319:p.Thr2083Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.T2083N	p.T2083N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6585	-			2014						Missense_Mutation	SNP	ENST00000333891.9	37	c.6248C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631314	0.03584	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.13	5.77	1.76	0.24704	.	.	.	.	.	T	0.13841	0.0335	N	0.22421	0.69	0.26384	N	0.976689	P;P	0.45474	0.773;0.859	B;B	0.40534	0.332;0.332	T	0.11518	-1.0584	9	0.87932	D	0	.	7.6597	0.28396	0.1409:0.2542:0.6049:0.0	.	2083;2083	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2014;2083;2083	ENSP00000334319:T2083N;ENSP00000388393:T2083N	ENSP00000334319:T2083N	T	-	2	0	PCLO	82421957	0.799000	0.28903	0.000000	0.03702	0.245000	0.25701	2.770000	0.47662	0.300000	0.22699	0.655000	0.94253	ACC		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	117	1	0	0.00116845	0.217242	0.00125158	6	117				
MYO9A	4649	broad.mit.edu	37	15	72180388	72180388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:72180388T>C	ENST00000356056.5	-	27	5684	c.5212A>G	c.(5212-5214)Acc>Gcc	p.T1738A	MYO9A_ENST00000563542.1_5'Flank|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1809A|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1719A|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1738A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1738	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCCAACTTGGTAATCTCTCCT	0.333																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5212-5214)Acc>Gcc		myosin IXA							128.0	121.0	123.0					15																	72180388		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72180388T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5212A>G	15.37:g.72180388T>C	ENSP00000348349:p.Thr1738Ala					MYO9A_ENST00000564571.1_Missense_Mutation_p.T1738A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1809A|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1719A	p.T1738A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			27	5684	-			1738			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5212A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	5.021	0.189500	0.09547	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.83992	-1.78;-1.79;-1.78	5.67	3.39	0.38822	.	.	.	.	.	T	0.74989	0.3789	L	0.54323	1.7	0.25288	N	0.98938	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.58446	-0.7635	9	0.18710	T	0.47	.	5.4209	0.16400	0.0:0.3019:0.0:0.6981	.	1809;1738	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	A	1738;1809;1719	ENSP00000348349:T1738A;ENSP00000399162:T1809A;ENSP00000398250:T1719A	ENSP00000348349:T1738A	T	-	1	0	MYO9A	69967442	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.288000	0.33296	0.980000	0.38523	0.397000	0.26171	ACC		0.333	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	160	0	0	0	0.150653	0	3	160				
TGFBR3	7049	broad.mit.edu	37	1	92177866	92177866	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177866C>A	ENST00000525962.1	-	12	2161	c.2100G>T	c.(2098-2100)ctG>ctT	p.L700L	TGFBR3_ENST00000212355.4_Silent_p.L700L|TGFBR3_ENST00000370399.2_Silent_p.L699L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	700	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTAGAAAGAGCAGTGAGGTGT	0.478																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2098-2100)ctG>ctT		transforming growth factor, beta receptor III							112.0	105.0	107.0					1																	92177866		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177866C>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2100G>T	1.37:g.92177866C>A						TGFBR3_ENST00000370399.2_Silent_p.L699L|TGFBR3_ENST00000525962.1_Silent_p.L700L	p.L700L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2565	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	700			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.2100G>T	CCDS30770.1																																																																																				0.478	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		21	49	1	0	1.22574e-08	0.624587	1.46333e-08	21	49				
MUC17	140453	broad.mit.edu	37	7	100677264	100677264	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:100677264C>A	ENST00000306151.4	+	3	2631	c.2567C>A	c.(2566-2568)cCa>cAa	p.P856Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	856	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCATGCCAACCTCAACT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2566-2568)cCa>cAa		mucin 17, cell surface associated							294.0	284.0	287.0					7																	100677264		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677264C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2567C>A	7.37:g.100677264C>A	ENSP00000302716:p.Pro856Gln						p.P856Q	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2631	+	Lung NSC(181;0.136)|all_lung(186;0.182)		856			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2567C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.795	-0.478591	0.04414	.	.	ENSG00000169876	ENST00000306151	T	0.03272	3.99	1.14	-1.24	0.09435	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	P	0.50156	0.932	B	0.37989	0.262	T	0.47222	-0.9134	9	0.14252	T	0.57	.	5.4778	0.16706	0.0:0.6168:0.0:0.3832	.	856	Q685J3	MUC17_HUMAN	Q	856	ENSP00000302716:P856Q	ENSP00000302716:P856Q	P	+	2	0	MUC17	100463984	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.034000	0.13776	-0.423000	0.07394	0.196000	0.17591	CCA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	639	1	0	1.12685e-05	0.307466	1.2724e-05	8	639				
ZBTB3	79842	broad.mit.edu	37	11	62520234	62520234	+	Silent	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62520234C>G	ENST00000394807.3	-	2	1178	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	351					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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TCACCTGGACCAGCTCAGCTT	0.567																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1051-1053)ctG>ctC		zinc finger and BTB domain containing 3							51.0	50.0	50.0					11																	62520234		2202	4297	6499	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520234C>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1053G>C	11.37:g.62520234C>G							p.L351L	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1178	-			351						Silent	SNP	ENST00000394807.3	37	c.1053G>C	CCDS8034.1																																																																																				0.567	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		5	138	0	0	0	0.184627	0	5	138				
RTP2	344892	broad.mit.edu	37	3	187416695	187416695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:187416695C>T	ENST00000358241.1	-	2	697	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CTTGAAGACGCGCATGCGCAC	0.647																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(268-270)cGc>cAc		receptor (chemosensory) transporter protein 2							24.0	23.0	24.0					3																	187416695		2203	4293	6496	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416695C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.269G>A	3.37:g.187416695C>T	ENSP00000350976:p.Arg90His						p.R90H	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	697	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		90					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.269G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195940	0.78902	.	.	ENSG00000198471	ENST00000358241	T	0.26957	1.7	4.32	4.32	0.51571	.	0.108090	0.64402	D	0.000007	T	0.51041	0.1651	M	0.81341	2.54	0.36521	D	0.870179	D	0.89917	1.0	D	0.79784	0.993	T	0.62515	-0.6838	10	0.87932	D	0	-38.4169	12.6182	0.56588	0.0:1.0:0.0:0.0	.	90	Q5QGT7	RTP2_HUMAN	H	90	ENSP00000350976:R90H	ENSP00000350976:R90H	R	-	2	0	RTP2	188899389	0.992000	0.36948	1.000000	0.80357	0.859000	0.49053	1.884000	0.39668	2.701000	0.92244	0.563000	0.77884	CGC		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		21	43	0	0	0	0.592651	0	21	43				
UGT2B4	7363	broad.mit.edu	37	4	70360946	70360946	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:70360946T>C	ENST00000305107.6	-	1	680	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	UGT2B4_ENST00000512583.1_Missense_Mutation_p.K212E|UGT2B4_ENST00000381096.3_Missense_Mutation_p.K76E|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	212					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATCATATTTTTTACCCTCTCT	0.363																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(634-636)Aaa>Gaa		UDP glucuronosyltransferase 2 family, polypeptide B4							65.0	65.0	65.0					4																	70360946		2192	4300	6492	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70360946T>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.634A>G	4.37:g.70360946T>C	ENSP00000305221:p.Lys212Glu					UGT2B4_ENST00000512583.1_Missense_Mutation_p.K212E|UGT2B4_ENST00000381096.3_Missense_Mutation_p.K76E|UGT2B4_ENST00000506580.1_Intron	p.K212E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	680	-			212					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.634A>G	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	7.402	0.633009	0.14322	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.60920	0.15;0.15;3.29	2.4	1.03	0.20045	.	1.427710	0.05049	U	0.477820	T	0.49966	0.1588	L	0.33710	1.025	0.09310	N	1	B;B;B	0.30361	0.001;0.247;0.277	B;B;B	0.38562	0.008;0.248;0.276	T	0.45352	-0.9267	10	0.40728	T	0.16	.	4.7005	0.12825	0.0:0.3185:0.0:0.6815	.	76;212;212	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	E	212;212;76	ENSP00000421290:K212E;ENSP00000305221:K212E;ENSP00000370486:K76E	ENSP00000305221:K212E	K	-	1	0	UGT2B4	70395535	0.000000	0.05858	0.024000	0.17045	0.054000	0.15201	0.046000	0.14035	0.125000	0.18397	0.248000	0.18094	AAA		0.363	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		19	52	0	0	0	0.592651	0	19	52				
EGF	1950	broad.mit.edu	37	4	110890205	110890205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:110890205G>T	ENST00000265171.5	+	11	2099	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	EGF_ENST00000509793.1_Nonsense_Mutation_p.E510*|EGF_ENST00000503392.1_Nonsense_Mutation_p.E552*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	552					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GCTTATTGAGGAAGGAGTAGA	0.453																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1654-1656)Gaa>Taa		epidermal growth factor	Sulindac(DB00605)						203.0	188.0	193.0					4																	110890205		2203	4300	6503	SO:0001587	stop_gained	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110890205G>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1654G>T	4.37:g.110890205G>T	ENSP00000265171:p.Glu552*					EGF_ENST00000509793.1_Nonsense_Mutation_p.E510*|EGF_ENST00000503392.1_Nonsense_Mutation_p.E552*	p.E552*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	11	2099	+		Hepatocellular(203;0.0893)	552					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Nonsense_Mutation	SNP	ENST00000265171.5	37	c.1654G>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	38	6.802065	0.97849	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	4.87	4.87	0.63330	.	0.313169	0.36482	N	0.002574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	18.3944	0.90493	0.0:0.0:1.0:0.0	.	.	.	.	X	510;552;552	.	ENSP00000265171:E552X	E	+	1	0	EGF	111109654	1.000000	0.71417	0.360000	0.25837	0.301000	0.27625	5.120000	0.64685	2.409000	0.81822	0.650000	0.86243	GAA		0.453	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			7	105	1	0	0.00198382	0.248553	0.00209189	7	105				
CALML5	51806	broad.mit.edu	37	10	5541247	5541247	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:5541247A>T	ENST00000380332.3	-	1	286	c.155T>A	c.(154-156)cTc>cAc	p.L52H		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	52	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CTCGGAGATGAGTTTCCTTAG	0.647																																					GBM(149;1055 3356 43077)	ENST00000380332.3																			0				biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						c.(154-156)cTc>cAc		calmodulin-like 5							81.0	81.0	81.0					10																	5541247		2203	4300	6503	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5541247A>T	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.155T>A	10.37:g.5541247A>T	ENSP00000369689:p.Leu52His						p.L52H	NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN			1	286	-			52			EF-hand 2.		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.155T>A	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194625	0.78902	.	.	ENSG00000178372	ENST00000380332	T	0.74002	-0.8	4.6	4.6	0.57074	EF-hand-like domain (1);	0.525168	0.17121	N	0.186232	D	0.86806	0.6021	M	0.89030	3	0.46499	D	0.999074	D	0.76494	0.999	D	0.66716	0.946	D	0.88542	0.3110	10	0.87932	D	0	-22.4288	12.0595	0.53555	1.0:0.0:0.0:0.0	.	52	Q9NZT1	CALL5_HUMAN	H	52	ENSP00000369689:L52H	ENSP00000369689:L52H	L	-	2	0	CALML5	5531247	1.000000	0.71417	0.093000	0.20910	0.003000	0.03518	8.920000	0.92779	2.015000	0.59207	0.533000	0.62120	CTC		0.647	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		4	126	0	0	0	0.150653	0	4	126				
GPR61	83873	broad.mit.edu	37	1	110086823	110086823	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:110086823G>A	ENST00000527748.1	+	2	1862	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTCCTTCTGAGTCCTGGGTTT	0.602																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1177-1179)gaG>gaA		G protein-coupled receptor 61							37.0	40.0	39.0					1																	110086823		2203	4299	6502	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086823G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1179G>A	1.37:g.110086823G>A							p.E393E	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1862	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	393					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.1179G>A	CCDS801.1																																																																																				0.602	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			22	49	0	0	0	0.624587	0	22	49				
CENPT	80152	broad.mit.edu	37	16	67865119	67865119	+	Splice_Site	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:67865119T>A	ENST00000562787.1	-	10	1251	c.703A>T	c.(703-705)Aac>Tac	p.N235Y	CENPT_ENST00000564817.1_Splice_Site_p.N235Y|CENPT_ENST00000445712.2_Missense_Mutation_p.S132C|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Splice_Site_p.N235Y|CENPT_ENST00000219172.3_Splice_Site_p.N235Y	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	235	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CCAACCTTACTTGGAGGAGCC	0.612																																						ENST00000445712.2																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(394-396)Agt>Tgt		centromere protein T							85.0	93.0	90.0					16																	67865119		1985	4173	6158	SO:0001630	splice_region_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865119T>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.703+1A>T	16.37:g.67865119T>A						CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000562787.1_Splice_Site_p.N235_splice|CENPT_ENST00000219172.3_Splice_Site_p.N235_splice|CENPT_ENST00000440851.2_Splice_Site_p.N235_splice|CENPT_ENST00000564817.1_Splice_Site_p.N235_splice	p.S132C			Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	6	640	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	235					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.394A>T	CCDS42182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.069597|4.069597	0.76301|0.76301	.|.	.|.	ENSG00000102901|ENSG00000102901	ENST00000440851;ENST00000219172|ENST00000445712	T;T|T	0.46063|0.48836	0.88;0.88|0.8	5.23|5.23	4.24|4.24	0.50183|0.50183	.|.	0.839797|.	0.10516|.	N|.	0.665573|.	T|T	0.38852|0.38852	0.1056|0.1056	N|N	0.22421|0.22421	0.69|0.69	0.21184|0.21184	N|N	0.999767|0.999767	P;P|P	0.49447|0.50156	0.924;0.924|0.932	P;P|P	0.51135|0.47162	0.66;0.568|0.54	T|T	0.16778|0.16778	-1.0391|-1.0391	10|9	0.66056|0.66056	D|D	0.02|0.02	-4.8845|-4.8845	7.9406|7.9406	0.29957|0.29957	0.0:0.8778:0.0:0.1222|0.0:0.8778:0.0:0.1222	.|.	235;235|132	Q96BT3;B3KPB2|B4DMP9	CENPT_HUMAN;.|.	Y|C	235|132	ENSP00000400140:N235Y;ENSP00000219172:N235Y|ENSP00000411594:S132C	ENSP00000219172:N235Y|ENSP00000411594:S132C	N|S	-|-	1|1	0|0	CENPT|CENPT	66422620|66422620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.080000|2.080000	0.41586|0.41586	1.118000|1.118000	0.41863|0.41863	0.454000|0.454000	0.30748|0.30748	AAC|AGT		0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	Missense_Mutation	6	283	0	0	0	0.217242	0	6	283				
FMO4	2329	broad.mit.edu	37	1	171303578	171303578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:171303578G>T	ENST00000367749.3	+	8	1186	c.856G>T	c.(856-858)Gag>Tag	p.E286*		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	286					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTGAATGATGAGCTGCCAAA	0.373																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(856-858)Gag>Tag		flavin containing monooxygenase 4							57.0	59.0	58.0					1																	171303578		2203	4300	6503	SO:0001587	stop_gained	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303578G>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.856G>T	1.37:g.171303578G>T	ENSP00000356723:p.Glu286*						p.E286*	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			8	1186	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		286					Q53XR0	Nonsense_Mutation	SNP	ENST00000367749.3	37	c.856G>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	42	9.394732	0.99158	.	.	ENSG00000076258	ENST00000367749	.	.	.	5.66	5.66	0.87406	.	0.050240	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.0806	19.3443	0.94357	0.0:0.0:1.0:0.0	.	.	.	.	X	286	.	ENSP00000356723:E286X	E	+	1	0	FMO4	169570202	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.637000	0.98443	2.643000	0.89663	0.650000	0.86243	GAG		0.373	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		16	68	1	0	4.7546e-09	0.500413	5.70132e-09	16	68				
EDRF1	26098	broad.mit.edu	37	10	127436201	127436201	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:127436201T>G	ENST00000356792.4	+	20	3143	c.2911T>G	c.(2911-2913)Tac>Gac	p.Y971D	RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.Y937D|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		971					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCCACTACTTACTTTACTAT	0.403																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2809-2811)Tac>Gac		chromosome 10 open reading frame 137							127.0	124.0	125.0					10																	127436201		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127436201T>G																												ENST00000356792.4:c.2911T>G	10.37:g.127436201T>G	ENSP00000349244:p.Tyr971Asp					RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.Y971D	p.Y937D	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			19	2914	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	971					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2809T>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483323	0.84854	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.997	T	0.76019	-0.3112	9	0.54805	T	0.06	.	15.8114	0.78568	0.0:0.0:0.0:1.0	.	971;318;937	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	D	971;937	.	ENSP00000336727:Y937D	Y	+	1	0	C10orf137	127426191	1.000000	0.71417	0.556000	0.28293	0.993000	0.82548	7.698000	0.84413	2.119000	0.64992	0.528000	0.53228	TAC		0.403	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			60	102	0	0	0	0.870114	0	60	102				
RCBTB2	1102	broad.mit.edu	37	13	49086282	49086282	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:49086282C>A	ENST00000344532.3	-	8	968	c.545G>T	c.(544-546)gGg>gTg	p.G182V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.G187V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G158V|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	182					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCTACCTGCCCAGAGTTATT	0.408																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(544-546)gGg>gTg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							114.0	105.0	108.0					13																	49086282		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49086282C>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.545G>T	13.37:g.49086282C>A	ENSP00000345144:p.Gly182Val					RCBTB2_ENST00000544904.1_Missense_Mutation_p.G158V|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G187V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_Intron	p.G182V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	8	968	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	182					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.545G>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084562	0.94100	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	D;D;D	0.92545	-3.06;-3.06;-3.06	5.73	5.73	0.89815	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	H	0.99507	4.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.99331	1.0909	10	0.87932	D	0	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	158;187;186;182	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	182;186;187;187;158	ENSP00000345144:G182V;ENSP00000389910:G187V;ENSP00000443904:G158V	ENSP00000345144:G182V	G	-	2	0	RCBTB2	47984283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.718000	0.92993	0.585000	0.79938	GGG		0.408	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		11	232	1	0	1.58986e-06	0.361761	1.83342e-06	11	232				
CLPTM1L	81037	broad.mit.edu	37	5	1321749	1321749	+	Splice_Site	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1321749C>A	ENST00000320895.5	-	15	1674		c.e15+1		CLPTM1L_ENST00000320927.6_Splice_Site|CLPTM1L_ENST00000506641.1_Splice_Site|CLPTM1L_ENST00000507807.1_Splice_Site	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like						apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTCACACTCACCTTGTAGGTG	0.592																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e15+1		CLPTM1-like							62.0	65.0	64.0					5																	1321749		2203	4300	6503	SO:0001630	splice_region_variant	81037				apoptosis	integral to membrane		g.chr5:1321749C>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1416+1G>T	5.37:g.1321749C>A						CLPTM1L_ENST00000506641.1_Splice_Site|CLPTM1L_ENST00000320927.6_Splice_Site|CLPTM1L_ENST00000507807.1_Splice_Site		NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	15	1674	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)							D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Splice_Site	SNP	ENST00000320895.5	37		CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579892	0.28180	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2201	0.82254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLPTM1L	1374749	1.000000	0.71417	0.898000	0.35279	0.085000	0.17905	7.113000	0.77095	2.170000	0.68504	0.555000	0.69702	.		0.592	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	Intron	5	129	1	0	5.9392e-07	0.217242	6.9376e-07	5	129				
UMODL1	89766	broad.mit.edu	37	21	43529775	43529775	+	Silent	SNP	C	C	T	rs374122697		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:43529775C>T	ENST00000408910.2	+	10	1623	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	UMODL1_ENST00000408989.2_Silent_p.D541D|UMODL1_ENST00000400427.1_Silent_p.D469D|UMODL1_ENST00000400424.2_Silent_p.D469D|C21orf128_ENST00000329015.2_5'Flank	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	541	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACCAGGGACGCCACCCCCT	0.687																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1405-1407)gaC>gaT		uromodulin-like 1		C	,,,	1,4017		0,1,2008	38.0	48.0	44.0		1623,1407,1407,1623	-1.9	0.6	21		44	0,8308		0,0,4154	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,1,6162	TT,TC,CC		0.0,0.0249,0.0081	,,,	541/1319,469/1375,469/1247,541/1447	43529775	1,12325	2009	4154	6163	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529775C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1623C>T	21.37:g.43529775C>T						UMODL1_ENST00000400424.1_Silent_p.D469D|UMODL1_ENST00000408989.2_Silent_p.D541D|UMODL1_ENST00000408910.2_Silent_p.D541D	p.D469D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			10	1803	+			541			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1407C>T	CCDS42936.1																																																																																				0.687	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			4	47	0	0	0	0.217242	0	4	47				
PPP2CB	5516	broad.mit.edu	37	8	30657106	30657106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:30657106C>A	ENST00000221138.4	-	2	718	c.268G>T	c.(268-270)Gga>Tga	p.G90*	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	90					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAATAATATCCTCTGTCTACA	0.343																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(268-270)Gga>Tga		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						124.0	123.0	124.0					8																	30657106		2203	4300	6503	SO:0001587	stop_gained	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30657106C>A		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.268G>T	8.37:g.30657106C>A	ENSP00000221138:p.Gly90*					PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	p.G90*	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	2	718	-			90					D3DSV4|P11082|Q6FHK5	Nonsense_Mutation	SNP	ENST00000221138.4	37	c.268G>T	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573432	0.65765	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1582	17.0986	0.86642	0.0:1.0:0.0:0.0	.	.	.	.	X	90;90;43;25	.	ENSP00000221138:G90X	G	-	1	0	PPP2CB	30776648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.165000	0.68154	0.655000	0.94253	GGA		0.343	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		11	253	1	0	6.42651e-13	0.387290	7.95244e-13	11	253				
EGFR	1956	broad.mit.edu	37	7	55231431	55231431	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55231431C>A	ENST00000275493.2	+	14	1814	c.1637C>A	c.(1636-1638)cCa>cAa	p.P546Q	EGFR_ENST00000344576.2_Missense_Mutation_p.P546Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P493Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P501Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P546Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P546Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	546					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTCAGTGAGCCAAGGGAGTTT	0.517		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1636-1638)cCa>cAa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						135.0	129.0	131.0					7																	55231431		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55231431C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1637C>A	7.37:g.55231431C>A	ENSP00000275493:p.Pro546Gln	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.P546Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P546Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P493Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P546Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P501Q	p.P546Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	1814	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		546					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1637C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380988	0.24944	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.84	4.96	0.65561	Growth factor, receptor (1);	0.047501	0.85682	D	0.000000	T	0.57388	0.2050	M	0.83384	2.64	0.58432	D	0.999998	P;P;D;D	0.89917	0.762;0.588;1.0;1.0	B;B;D;D	0.77557	0.242;0.152;0.99;0.979	T	0.61207	-0.7109	10	0.44086	T	0.13	.	13.6504	0.62308	0.0:0.9255:0.0:0.0745	.	501;546;546;546	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	Q	501;546;416;546;546;546;493;340	ENSP00000415559:P501Q;ENSP00000342376:P546Q;ENSP00000345973:P546Q;ENSP00000275493:P546Q;ENSP00000410031:P546Q;ENSP00000395243:P493Q	ENSP00000275493:P546Q	P	+	2	0	EGFR	55198925	1.000000	0.71417	0.905000	0.35620	0.076000	0.17211	5.372000	0.66156	1.497000	0.48584	-0.136000	0.14681	CCA		0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		13	310	1	0	4.36969e-10	0.435327	5.31025e-10	13	310				
FAT3	120114	broad.mit.edu	37	11	92088408	92088408	+	Missense_Mutation	SNP	C	C	A	rs577176449		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:92088408C>A	ENST00000298047.6	+	1	3147	c.3130C>A	c.(3130-3132)Cca>Aca	p.P1044T	FAT3_ENST00000541502.1_Missense_Mutation_p.P1044T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1044T|FAT3_ENST00000525166.1_Missense_Mutation_p.P894T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1044	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCTATTTCCCAGACTTTGC	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3130-3132)Cca>Aca		FAT atypical cadherin 3							101.0	99.0	100.0					11																	92088408		1977	4152	6129	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088408C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3130C>A	11.37:g.92088408C>A	ENSP00000298047:p.Pro1044Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P1044T|FAT3_ENST00000541502.1_Missense_Mutation_p.P1044T|FAT3_ENST00000525166.1_Missense_Mutation_p.P894T	p.P1044T			Q8TDW7	FAT3_HUMAN			1	3147	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1044			Cadherin 10.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3130C>A		.	.	.	.	.	.	.	.	.	.	C	7.741	0.701261	0.15172	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60171	5.09;5.09;0.21;5.09	5.86	5.86	0.93980	.	.	.	.	.	T	0.41673	0.1169	N	0.24115	0.695	0.38828	D	0.955781	P	0.36959	0.575	B	0.36845	0.234	T	0.34900	-0.9810	9	0.14656	T	0.56	.	12.4764	0.55817	0.0:0.9243:0.0:0.0757	.	1044	Q8TDW7-3	.	T	1044;1044;1044;894	ENSP00000298047:P1044T;ENSP00000387040:P1044T;ENSP00000443786:P1044T;ENSP00000432586:P894T	ENSP00000298047:P1044T	P	+	1	0	FAT3	91728056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.998000	0.40796	2.777000	0.95525	0.655000	0.94253	CCA		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	59	1	0	0.00909568	0.150653	0.00944417	4	59				
CLDN17	26285	broad.mit.edu	37	21	31538876	31538876	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:31538876C>T	ENST00000286808.3	-	1	95	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	20					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCAAGAGTCCCCACCATGC	0.478																																						ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(58-60)ggG>ggA		claudin 17							70.0	69.0	70.0					21																	31538876		2203	4300	6503	SO:0001819	synonymous_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538876C>T	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.60G>A	21.37:g.31538876C>T							p.G20G	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	95	-			20					Q3MJB5|Q6UY37	Silent	SNP	ENST00000286808.3	37	c.60G>A	CCDS13586.1																																																																																				0.478	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		36	91	0	0	0	0.812448	0	36	91				
ZNF648	127665	broad.mit.edu	37	1	182026716	182026716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:182026716G>A	ENST00000339948.3	-	2	637	c.430C>T	c.(430-432)Cga>Tga	p.R144*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R144*(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCAGGTAGTCGGTCCCCAAGA	0.577																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			1	Substitution - Nonsense(1)	p.R144*(1)	large_intestine(1)	breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(430-432)Cga>Tga		zinc finger protein 648							80.0	76.0	78.0					1																	182026716		2203	4300	6503	SO:0001587	stop_gained	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026716G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.430C>T	1.37:g.182026716G>A	ENSP00000344129:p.Arg144*						p.R144*	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	637	-			144					B2RP16	Nonsense_Mutation	SNP	ENST00000339948.3	37	c.430C>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456694	0.63401	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.71	-1.12	0.09808	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	1.1939	0.01871	0.3112:0.3799:0.1229:0.186	.	.	.	.	X	144	.	ENSP00000344129:R144X	R	-	1	2	ZNF648	180293339	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.240000	0.02914	-0.246000	0.09611	-2.343000	0.00245	CGA		0.577	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		68	45	0	0	0	0.870114	0	68	45				
LMOD1	25802	broad.mit.edu	37	1	201868533	201868533	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201868533G>A	ENST00000367288.4	-	2	1854	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	536					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGGAGGGGGTGGTGGGG	0.577																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1606-1608)ccC>ccT		leiomodin 1 (smooth muscle)							28.0	31.0	30.0					1																	201868533		1825	4070	5895	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868533G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1608C>T	1.37:g.201868533G>A						RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	p.P536P	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1854	-			536					B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.1608C>T	CCDS53457.1																																																																																				0.577	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			3	38	0	0	0	0.115264	0	3	38				
WDR91	29062	broad.mit.edu	37	7	134889075	134889075	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:134889075G>A	ENST00000354475.4	-	6	867	c.836C>T	c.(835-837)gCt>gTt	p.A279V	WDR91_ENST00000344400.5_Missense_Mutation_p.A279V|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.A244V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	279										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGGCCCTGAGCAGGCGACAA	0.592																																						ENST00000354475.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(835-837)gCt>gTt		WD repeat domain 91							64.0	60.0	61.0					7																	134889075		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134889075G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.836C>T	7.37:g.134889075G>A	ENSP00000346466:p.Ala279Val					WDR91_ENST00000344400.5_Missense_Mutation_p.A279V|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.A244V	p.A279V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			6	867	-			279					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.836C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260205	0.39995	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.63255	1.53;-0.03;0.55	4.88	4.88	0.63580	.	0.271728	0.40385	N	0.001116	T	0.45074	0.1324	N	0.14661	0.345	0.34874	D	0.743921	B	0.27450	0.179	B	0.21546	0.035	T	0.53194	-0.8473	10	0.27785	T	0.31	-23.0248	16.3935	0.83548	0.0:0.0:1.0:0.0	.	279	A4D1P6	WDR91_HUMAN	V	279;279;244	ENSP00000340877:A279V;ENSP00000346466:A279V;ENSP00000392555:A244V	ENSP00000340877:A279V	A	-	2	0	WDR91	134539615	1.000000	0.71417	0.999000	0.59377	0.545000	0.35147	4.242000	0.58714	2.548000	0.85928	0.655000	0.94253	GCT		0.592	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		7	92	0	0	0	0.248553	0	7	92				
LOXL2	4017	broad.mit.edu	37	8	23191125	23191125	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:23191125G>A	ENST00000389131.3	-	5	1124	c.755C>T	c.(754-756)tCa>tTa	p.S252L	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	252	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTCCTCCGTGAGGCAAACAT	0.617																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(754-756)tCa>tTa		lysyl oxidase-like 2							51.0	41.0	44.0					8																	23191125		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191125G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.755C>T	8.37:g.23191125G>A	ENSP00000373783:p.Ser252Leu						p.S252L	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1124	-		Prostate(55;0.0453)|Breast(100;0.143)	252			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.755C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.256500	0.39896	.	.	ENSG00000134013	ENST00000389131	T	0.60920	0.15	5.78	4.89	0.63831	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.057590	0.07241	N	0.864222	T	0.53674	0.1811	L	0.45422	1.42	0.25218	N	0.989924	B	0.19935	0.04	B	0.22386	0.039	T	0.35301	-0.9794	10	0.23302	T	0.38	.	14.4709	0.67517	0.0:0.2059:0.7941:0.0	.	252	Q9Y4K0	LOXL2_HUMAN	L	252	ENSP00000373783:S252L	ENSP00000373783:S252L	S	-	2	0	LOXL2	23247070	0.084000	0.21492	0.232000	0.24009	0.942000	0.58702	0.981000	0.29526	2.742000	0.94016	0.645000	0.84053	TCA		0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			6	61	0	0	0	0.217242	0	6	61				
FZD1	8321	broad.mit.edu	37	7	90894572	90894572	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:90894572A>T	ENST00000287934.2	+	1	790	c.377A>T	c.(376-378)gAc>gTc	p.D126V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	126	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGCACGGACATCGCGTAC	0.632																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(376-378)gAc>gTc		frizzled family receptor 1							153.0	128.0	136.0					7																	90894572		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894572A>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.377A>T	7.37:g.90894572A>T	ENSP00000287934:p.Asp126Val						p.D126V	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	790	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		126			FZ.		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.377A>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987986	0.74589	.	.	ENSG00000157240	ENST00000287934	T	0.81163	-1.46	4.39	4.39	0.52855	Frizzled domain (5);	0.000000	0.64402	D	0.000003	D	0.90463	0.7013	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92327	0.5870	10	0.87932	D	0	.	13.7662	0.62997	1.0:0.0:0.0:0.0	.	126	Q9UP38	FZD1_HUMAN	V	126	ENSP00000287934:D126V	ENSP00000287934:D126V	D	+	2	0	FZD1	90732508	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.954000	0.93051	1.844000	0.53588	0.454000	0.30748	GAC		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		17	84	0	0	0	0.557998	0	17	84				
ESRRG	2104	broad.mit.edu	37	1	216850602	216850602	+	Silent	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216850602A>T	ENST00000408911.3	-	2	441	c.288T>A	c.(286-288)ccT>ccA	p.P96P	ESRRG_ENST00000366940.2_Silent_p.P73P|ESRRG_ENST00000391890.3_Silent_p.P73P|ESRRG_ENST00000359162.2_Silent_p.P73P|ESRRG_ENST00000366937.1_Silent_p.P101P|ESRRG_ENST00000493748.1_Silent_p.P73P|ESRRG_ENST00000361525.3_Silent_p.P73P|ESRRG_ENST00000487276.1_Silent_p.P73P|ESRRG_ENST00000361395.2_Silent_p.P73P|ESRRG_ENST00000493603.1_Silent_p.P73P|ESRRG_ENST00000360012.3_Silent_p.P73P|ESRRG_ENST00000366938.2_Silent_p.P73P|ESRRG_ENST00000463665.1_Silent_p.P73P	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	96					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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 positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTTTCCTGACAGGCCCACTAC	0.517																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(217-219)ccT>ccA		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						198.0	175.0	183.0					1																	216850602		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850602A>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.288T>A	1.37:g.216850602A>T						ESRRG_ENST00000361395.2_Silent_p.P73P|ESRRG_ENST00000359162.2_Silent_p.P73P|ESRRG_ENST00000493603.1_Silent_p.P73P|ESRRG_ENST00000487276.1_Silent_p.P73P|ESRRG_ENST00000463665.1_Silent_p.P73P|ESRRG_ENST00000366938.2_Silent_p.P73P|ESRRG_ENST00000408911.3_Silent_p.P96P|ESRRG_ENST00000493748.1_Silent_p.P73P|ESRRG_ENST00000366940.2_Silent_p.P73P|ESRRG_ENST00000361525.3_Silent_p.P73P|ESRRG_ENST00000360012.3_Silent_p.P73P|ESRRG_ENST00000366937.1_Silent_p.P101P	p.P73P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	736	-			96					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.219T>A	CCDS41468.1																																																																																				0.517	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		18	221	0	0	0	0.557998	0	18	221				
RNF213	57674	broad.mit.edu	37	17	78338337	78338337	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338337T>A	ENST00000582970.1	+	42	11998	c.11855T>A	c.(11854-11856)gTc>gAc	p.V3952D	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4001D|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2025D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3952					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCGAGCACGTCTTCTTACTA	0.577																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11854-11856)gTc>gAc		ring finger protein 213							71.0	68.0	69.0					17																	78338337		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78338337T>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11855T>A	17.37:g.78338337T>A	ENSP00000464087:p.Val3952Asp					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2025D|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4001D	p.V3952D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		42	11998	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11855T>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118451	0.37339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25250	1.81	5.4	4.32	0.51571	.	0.382612	0.27151	N	0.020687	T	0.35364	0.0929	M	0.62723	1.935	0.09310	N	1	D;P	0.57571	0.98;0.893	P;B	0.55965	0.788;0.361	T	0.31641	-0.9936	10	0.72032	D	0.01	.	3.9357	0.09305	0.0:0.2032:0.183:0.6137	.	4001;2025	C9JCP4;Q63HN8	.;RN213_HUMAN	D	3952;4001;2025	ENSP00000338218:V2025D	ENSP00000338218:V2025D	V	+	2	0	RNF213	75952932	0.048000	0.20356	0.002000	0.10522	0.013000	0.08279	1.786000	0.38694	0.894000	0.36317	0.528000	0.53228	GTC		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	62	0	0	0	0.435327	0	13	62				
COPG2	26958	broad.mit.edu	37	7	130295824	130295824	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295824C>A	ENST00000445977.2	-	9	826	c.737G>T	c.(736-738)gGg>gTg	p.G246V				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					AGACACTTACCCATCCTCAGT	0.368																																						ENST00000445977.2																			0				large_intestine(1)	1						c.(736-738)gGg>gTg		coatomer protein complex, subunit gamma 2							131.0	123.0	126.0					7																	130295824		1853	4103	5956	SO:0001583	missense	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130295824C>A	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.737G>T	7.37:g.130295824C>A	ENSP00000393912:p.Gly246Val						p.G246V			Q9UBF2	COPG2_HUMAN			9	826	-	Melanoma(18;0.0435)		246					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	ENST00000445977.2	37	c.737G>T		.	.	.	.	.	.	.	.	.	.	C	16.51	3.143021	0.57044	.	.	ENSG00000158623	ENST00000445977	.	.	.	5.31	4.43	0.53597	.	0.114925	0.64402	U	0.000017	T	0.72431	0.3459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75616	-0.3256	6	0.87932	D	0	-6.4364	12.5698	0.56331	0.0:0.9188:0.0:0.0812	.	.	.	.	V	246	.	ENSP00000393912:G246V	G	-	2	0	COPG2	129946361	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.765000	0.62271	1.239000	0.43787	0.561000	0.74099	GGG		0.368	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		6	124	1	0	1.76689e-08	0.335167	2.09095e-08	6	124				
LPCAT1	79888	broad.mit.edu	37	5	1488528	1488528	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1488528G>A	ENST00000283415.3	-	5	777	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	215					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TAATTAGGCAGGTCCTGTTTG	0.303																																						ENST00000283415.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(643-645)acC>acT		lysophosphatidylcholine acyltransferase 1							87.0	91.0	89.0					5																	1488528		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1488528G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.645C>T	5.37:g.1488528G>A							p.T215T	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	5	777	-			215					Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.645C>T	CCDS3864.1																																																																																				0.303	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		7	201	0	0	0	0.278610	0	7	201				
GIMAP6	474344	broad.mit.edu	37	7	150325305	150325305	+	Silent	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150325305G>T	ENST00000328902.5	-	3	597	c.381C>A	c.(379-381)ctC>ctA	p.L127L	GIMAP6_ENST00000493969.1_Missense_Mutation_p.P53T	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	127	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTCACCAGGAGCACGGCGT	0.627																																						ENST00000493969.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(157-159)Cct>Act		GTPase, IMAP family member 6							54.0	57.0	56.0					7																	150325305		2203	4300	6503	SO:0001819	synonymous_variant	474344						GTP binding	g.chr7:150325305G>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.381C>A	7.37:g.150325305G>T						GIMAP6_ENST00000328902.5_Silent_p.L127L	p.P53T	NM_001244071.1	NP_001231000.1	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	334	-			0					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.157C>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	4.803	0.149326	0.09185	.	.	ENSG00000133561	ENST00000493969	.	.	.	4.07	-1.62	0.08372	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.25623	N	0.986372	.	.	.	.	.	.	T	0.47886	-0.9082	5	0.87932	D	0	.	10.0085	0.41972	0.097:0.6492:0.2538:0.0	.	.	.	.	T	53	.	ENSP00000418304:P53T	P	-	1	0	GIMAP6	149956238	0.933000	0.31639	0.981000	0.43875	0.199000	0.23934	0.030000	0.13688	-0.622000	0.05626	-0.311000	0.09066	CCT		0.627	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		7	153	1	0	0.00198382	0.248553	0.00209189	7	153				
SERPINB4	6318	broad.mit.edu	37	18	61305189	61305189	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:61305189C>G	ENST00000341074.5	-	8	1052	c.937G>C	c.(937-939)Gac>Cac	p.D313H	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D261H	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	313					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCTGAGAGGTCTGCATCCCCA	0.502																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(937-939)Gac>Cac		serpin peptidase inhibitor, clade B (ovalbumin), member 4							174.0	152.0	159.0					18																	61305189		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61305189C>G	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.937G>C	18.37:g.61305189C>G	ENSP00000343445:p.Asp313His					SERPINB4_ENST00000356424.6_Missense_Mutation_p.D261H	p.D313H	NM_002974.2	NP_002965.1					8	1052	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.937G>C	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.117841|3.117841	0.56505|0.56505	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424|ENST00000413673	D;D|.	0.86432|.	-2.12;-2.12|.	4.41|4.41	0.406|0.406	0.16366|0.16366	Serpin domain (3);|.	0.321787|.	0.22241|.	N|.	0.062683|.	T|T	0.78898|0.78898	0.4356|0.4356	H|H	0.96916|0.96916	3.905|3.905	0.33137|0.33137	D|D	0.543861|0.543861	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.79108|.	0.992;0.992;0.988|.	T|T	0.82114|0.82114	-0.0617|-0.0617	10|5	0.87932|.	D|.	0|.	.|.	8.843|8.843	0.35153|0.35153	0.0:0.636:0.0:0.364|0.0:0.636:0.0:0.364	.|.	313;313;292|.	Q5K684;P48594;Q9BYF7|.	.;SPB4_HUMAN;.|.	H|H	313;261|293	ENSP00000343445:D313H;ENSP00000348795:D261H|.	ENSP00000343445:D313H|.	D|Q	-|-	1|3	0|2	SERPINB4|SERPINB4	59456169|59456169	0.001000|0.001000	0.12720|0.12720	0.245000|0.245000	0.24217|0.24217	0.219000|0.219000	0.24729|0.24729	0.340000|0.340000	0.19892|0.19892	0.172000|0.172000	0.19760|0.19760	0.609000|0.609000	0.83330|0.83330	GAC|CAG		0.502	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	73	0	0	0	0.150653	0	4	73				
NUP160	23279	broad.mit.edu	37	11	47857319	47857319	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47857319G>A	ENST00000378460.2	-	7	1031	c.985C>T	c.(985-987)Cct>Tct	p.P329S	NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.P215S|NUP160_ENST00000530326.1_Missense_Mutation_p.P215S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	329					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTTCACAGGGACATACTCC	0.453																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(985-987)Cct>Tct		nucleoporin 160kDa							168.0	147.0	154.0					11																	47857319		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47857319G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.985C>T	11.37:g.47857319G>A	ENSP00000367721:p.Pro329Ser					NUP160_ENST00000528071.1_Missense_Mutation_p.P215S|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.P215S	p.P329S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			7	1031	-			329					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.985C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087303	0.94100	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.44083	0.93;0.93;0.93	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50056	-0.8872	10	0.05620	T	0.96	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	329	Q12769	NU160_HUMAN	S	329;79;215;215	ENSP00000367721:P329S;ENSP00000433590:P215S;ENSP00000432367:P215S	ENSP00000367721:P329S	P	-	1	0	NUP160	47813895	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.661000	0.91125	2.545000	0.85829	0.591000	0.81541	CCT		0.453	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		18	178	0	0	0	0.539581	0	18	178				
TTC19	54902	broad.mit.edu	37	17	15929998	15929998	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:15929998G>A	ENST00000261647.5	+	9	1445	c.976G>A	c.(976-978)Gca>Aca	p.A326T	TTC19_ENST00000486880.2_Missense_Mutation_p.A447T|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	326					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAATCTAGCTGCAGTTTTGAT	0.428																																						ENST00000261647.5																			0				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(976-978)Gca>Aca		tetratricopeptide repeat domain 19							104.0	88.0	94.0					17																	15929998		2203	4300	6503	SO:0001583	missense	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15929998G>A	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.976G>A	17.37:g.15929998G>A	ENSP00000261647:p.Ala326Thr					TTC19_ENST00000486880.2_Missense_Mutation_p.A447T|TTC19_ENST00000497842.2_3'UTR	p.A326T	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	9	1445	+			326					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	c.976G>A	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132950	0.56828	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	T	0.63417	-0.04	6.05	6.05	0.98169	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239834	0.42821	D	0.000649	T	0.49795	0.1578	L	0.33485	1.01	0.37739	D	0.925569	P;B	0.35944	0.529;0.38	B;B	0.35859	0.212;0.091	T	0.50709	-0.8796	10	0.19590	T	0.45	-11.8127	12.8471	0.57835	0.0736:0.0:0.9264:0.0	.	326;89	Q6DKK2;B3KT23	TTC19_HUMAN;.	T	326;447;326	ENSP00000261647:A326T	ENSP00000261647:A447T	A	+	1	0	TTC19	15870723	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	6.819000	0.75262	2.866000	0.98385	0.650000	0.86243	GCA		0.428	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		16	108	0	0	0	0.500413	0	16	108				
SI	6476	broad.mit.edu	37	3	164772994	164772994	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772994A>T	ENST00000264382.3	-	13	1562	c.1500T>A	c.(1498-1500)gaT>gaA	p.D500E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	500	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCAAAGTCCATCATATTGCA	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1498-1500)gaT>gaA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						117.0	112.0	114.0					3																	164772994		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164772994A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1500T>A	3.37:g.164772994A>T	ENSP00000264382:p.Asp500Glu	HNSCC(35;0.089)					p.D500E	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			13	1562	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	500			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1500T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.128060	0.56721	.	.	ENSG00000090402	ENST00000264382	D	0.96856	-4.15	5.13	3.97	0.46021	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.89095	3.005	0.45995	D	0.998802	P	0.47910	0.902	P	0.56514	0.8	D	0.97149	0.9830	10	0.87932	D	0	.	9.9328	0.41532	0.9194:0.0:0.0806:0.0	.	500	P14410	SUIS_HUMAN	E	500	ENSP00000264382:D500E	ENSP00000264382:D500E	D	-	3	2	SI	166255688	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	2.589000	0.46145	0.793000	0.33875	-0.334000	0.08254	GAT		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	207	0	0	0	0.278610	0	8	207				
LOC645166	645166	broad.mit.edu	37	1	148933357	148933357	+	lincRNA	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:148933357T>C	ENST00000539543.1	+	0	243					NR_027355.2																						CAAGACCTCATCAACAATTAA	0.453																																						ENST00000539543.1																			0																																																			645166							g.chr1:148933357T>C																													1.37:g.148933357T>C								NR_027355.1						0	243	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.453	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				7	34	0	0	0	0.307466	0	7	34				
LBP	3929	broad.mit.edu	37	20	37002604	37002604	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:37002604C>A	ENST00000217407.2	+	14	1509	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	450					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGCTTCCCCCTTCCTCTGCT	0.483																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1348-1350)Ctt>Att		lipopolysaccharide binding protein							94.0	87.0	90.0					20																	37002604		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002604C>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1348C>A	20.37:g.37002604C>A	ENSP00000217407:p.Leu450Ile						p.L450I	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			14	1509	+		Myeloproliferative disorder(115;0.00878)	450					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1348C>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792183	0.50102	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.16897	2.31	5.01	5.01	0.66863	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000017	T	0.41328	0.1154	M	0.78344	2.41	0.41422	D	0.987806	D	0.89917	1.0	D	0.97110	1.0	T	0.09574	-1.0668	10	0.30854	T	0.27	-33.721	14.0086	0.64481	0.0:1.0:0.0:0.0	.	450	P18428	LBP_HUMAN	I	450	ENSP00000217407:L450I	ENSP00000217407:L450I	L	+	1	0	LBP	36436018	0.973000	0.33851	0.997000	0.53966	0.039000	0.13416	3.803000	0.55560	2.763000	0.94921	0.563000	0.77884	CTT		0.483	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		6	181	1	0	8.12818e-05	0.248553	8.99077e-05	6	181				
EGFR	1956	broad.mit.edu	37	7	55238145	55238145	+	Intron	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55238145C>T	ENST00000275493.2	+	16	2057				EGFR_ENST00000344576.2_Missense_Mutation_p.P676S|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTCTCTTCTGCCGTCAGAGTT	0.562		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000344576.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2026-2028)Ccg>Tcg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						131.0	105.0	114.0					7																	55238145		2203	4300	6503	SO:0001627	intron_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238145C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-723C>T	7.37:g.55238145C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000455089.1_Intron	p.P676S	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2271	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		0					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2026C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316258	0.23908	.	.	ENSG00000146648	ENST00000344576	T	0.80304	-1.36	2.98	0.422	0.16457	.	.	.	.	.	T	0.59797	0.2220	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.11329	0.006	T	0.51482	-0.8700	9	0.87932	D	0	.	4.7195	0.12912	0.0:0.4725:0.0:0.5275	.	676	P00533-3	.	S	676	ENSP00000345973:P676S	ENSP00000345973:P676S	P	+	1	0	EGFR	55205639	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.396000	0.07278	0.056000	0.16144	0.563000	0.77884	CCG		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		65	176	0	0	0	0.870114	0	65	176				
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:179579856C>T	ENST00000591111.1	-	88	25330	c.25106G>A	c.(25105-25107)gGc>gAc	p.G8369D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G8686D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12543	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7442D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTTCTTGCCGCTCCTAAG	0.443																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7442D(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26056-26058)gGc>gAc		titin							327.0	308.0	314.0					2																	179579856		1930	4126	6056	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579856C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25106G>A	2.37:g.179579856C>T	ENSP00000465570:p.Gly8369Asp					TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D	p.G8686D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26281	-			8369			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.26057G>A		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	432	0	0	0	0.278610	0	7	432				
GPR15	2838	broad.mit.edu	37	3	98251043	98251043	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:98251043G>A	ENST00000284311.3	+	1	301	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	56					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGTTCTCATGGGAGCGTTGCA	0.498																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(166-168)Gga>Aga		G protein-coupled receptor 15							82.0	78.0	79.0					3																	98251043		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251043G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.166G>A	3.37:g.98251043G>A	ENSP00000284311:p.Gly56Arg						p.G56R	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	301	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	56					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.166G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	3.601	-0.081529	0.07141	.	.	ENSG00000154165	ENST00000284311	T	0.37058	1.22	4.68	-0.976	0.10286	GPCR, rhodopsin-like superfamily (1);	2.178180	0.02110	N	0.054700	T	0.16300	0.0392	N	0.01874	-0.695	0.09310	N	1	P	0.40211	0.707	B	0.39771	0.309	T	0.06643	-1.0815	10	0.27082	T	0.32	-3.0E-4	6.7414	0.23439	0.2346:0.0:0.6276:0.1378	.	56	P49685	GPR15_HUMAN	R	56	ENSP00000284311:G56R	ENSP00000284311:G56R	G	+	1	0	GPR15	99733733	0.000000	0.05858	0.016000	0.15963	0.368000	0.29767	0.197000	0.17197	-0.302000	0.08869	0.585000	0.79938	GGA		0.498	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			9	111	0	0	0	0.307466	0	9	111				
OXER1	165140	broad.mit.edu	37	2	42991086	42991086	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:42991086G>A	ENST00000378661.2	-	1	315	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	78	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCCCTCCAGAGGACCCCCCCA	0.627																																						ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(232-234)tcC>tcT		oxoeicosanoid (OXE) receptor 1							30.0	34.0	32.0					2																	42991086		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991086G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.234C>T	2.37:g.42991086G>A							p.S78S	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	315	-			78			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.234C>T	CCDS1810.1																																																																																				0.627	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		7	53	0	0	0	0.248553	0	7	53				
MICU1	10367	broad.mit.edu	37	10	74234940	74234940	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:74234940C>T	ENST00000361114.5	-	8	947	c.851G>A	c.(850-852)gGa>gAa	p.G284E	MICU1_ENST00000398763.4_Missense_Mutation_p.G86E|MICU1_ENST00000398761.4_Missense_Mutation_p.G286E|MICU1_ENST00000401998.3_Missense_Mutation_p.G284E|MICU1_ENST00000418483.2_Missense_Mutation_p.G86E	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	284					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CAGATCAGCTCCAAAAAAGTA	0.478																																						ENST00000398761.4																			0											c.(856-858)gGa>gAa		mitochondrial calcium uptake 1							88.0	87.0	87.0					10																	74234940		1998	4175	6173	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74234940C>T	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.851G>A	10.37:g.74234940C>T	ENSP00000354415:p.Gly284Glu					MICU1_ENST00000401998.3_Missense_Mutation_p.G284E|MICU1_ENST00000418483.2_Missense_Mutation_p.G86E|MICU1_ENST00000361114.5_Missense_Mutation_p.G284E|MICU1_ENST00000398763.4_Missense_Mutation_p.G86E	p.G286E			Q9BPX6	MICU1_HUMAN			10	989	-			284					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.857G>A	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181392	0.94885	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;D;T;T;T	0.91124	1.95;-2.79;1.95;1.04;0.57	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97171	0.9844	10	0.87932	D	0	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	86;86;284	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	E	284;286;284;86;86	ENSP00000354415:G284E;ENSP00000381745:G286E;ENSP00000384068:G284E;ENSP00000402470:G86E;ENSP00000381747:G86E	ENSP00000354415:G284E	G	-	2	0	MICU1	73904946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.528000	0.85240	0.650000	0.86243	GGA		0.478	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		11	18	0	0	0	0.387290	0	11	18				
GABRG3	2567	broad.mit.edu	37	15	27772605	27772605	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:27772605A>G	ENST00000333743.6	+	8	1146	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	298					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACCATGACCACCCTGAGCAC	0.582																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(892-894)Acc>Gcc		gamma-aminobutyric acid (GABA) A receptor, gamma 3							119.0	112.0	114.0					15																	27772605		2186	4292	6478	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772605A>G		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.892A>G	15.37:g.27772605A>G	ENSP00000331912:p.Thr298Ala					RP11-100M12.3_ENST00000556642.1_RNA	p.T298A	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1146	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	298					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.892A>G	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860949	0.91433	.	.	ENSG00000182256	ENST00000333743;ENST00000554696	D;D	0.85702	-2.02;-2.02	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92178	0.5749	10	0.87932	D	0	.	14.7528	0.69540	1.0:0.0:0.0:0.0	.	298	Q99928	GBRG3_HUMAN	A	298;240	ENSP00000331912:T298A;ENSP00000451862:T240A	ENSP00000331912:T298A	T	+	1	0	GABRG3	25446200	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	8.933000	0.92911	2.072000	0.62099	0.460000	0.39030	ACC		0.582	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			11	86	0	0	0	0.411799	0	11	86				
ABCD2	225	broad.mit.edu	37	12	39947881	39947881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:39947881C>A	ENST00000308666.3	-	10	2191	c.2056G>T	c.(2056-2058)Gaa>Taa	p.E686*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	686	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCCAATTGTTCAAAGCGCCAA	0.348																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2056-2058)Gaa>Taa		ATP-binding cassette, sub-family D (ALD), member 2							101.0	98.0	99.0					12																	39947881		2203	4300	6503	SO:0001587	stop_gained	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947881C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2056G>T	12.37:g.39947881C>A	ENSP00000310688:p.Glu686*						p.E686*	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			10	2191	-			686			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Nonsense_Mutation	SNP	ENST00000308666.3	37	c.2056G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	39	7.892903	0.98548	.	.	ENSG00000173208	ENST00000308666	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.9064	18.8712	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	X	686	.	.	E	-	1	0	ABCD2	38234148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.971000	0.70440	2.535000	0.85469	0.655000	0.94253	GAA		0.348	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		7	119	1	0	1.26484e-09	0.278610	1.53024e-09	7	119				
MYH13	8735	broad.mit.edu	37	17	10233707	10233707	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:10233707C>T	ENST00000418404.3	-	20	2595	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R811K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	811	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTCACCTCCTCTCCATCAT	0.537																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2431-2433)aGg>aAg		myosin, heavy chain 13, skeletal muscle							94.0	97.0	96.0					17																	10233707		2201	4299	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233707C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2432G>A	17.37:g.10233707C>T	ENSP00000404570:p.Arg811Lys					RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R811K|MYH13_ENST00000570743.1_Missense_Mutation_p.R811K	p.R811K			Q9UKX3	MYH13_HUMAN			20	2595	-			811			IQ.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2432G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181202	0.57800	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72835	-0.69	4.1	3.04	0.35103	.	.	.	.	.	T	0.75517	0.3860	M	0.90198	3.095	0.36556	D	0.872128	B	0.02656	0.0	B	0.13407	0.009	T	0.81775	-0.0778	9	0.66056	D	0.02	.	13.7548	0.62930	0.1536:0.8464:0.0:0.0	.	811	Q9UKX3	MYH13_HUMAN	K	811;486	ENSP00000252172:R811K	ENSP00000252172:R811K	R	-	2	0	MYH13	10174432	0.318000	0.24598	1.000000	0.80357	0.681000	0.39784	4.770000	0.62309	2.283000	0.76528	0.563000	0.77884	AGG		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		3	31	0	0	0	0.150653	0	3	31				
SFRP4	6424	broad.mit.edu	37	7	37955852	37955852	+	Silent	SNP	C	C	T	rs143563677	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:37955852C>T	ENST00000436072.2	-	1	665	c.288G>A	c.(286-288)ccG>ccA	p.P96P	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	96	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCGACTTGCACGGCTTGATAG	0.632													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19105	0.0		0.0	False		,,,				2504	0.0					ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(286-288)ccG>ccA		secreted frizzled-related protein 4		C		0,4406		0,0,2203	66.0	56.0	59.0		288	-8.6	0.3	7	dbSNP_134	59	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SFRP4	NM_003014.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		96/347	37955852	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955852C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.288G>A	7.37:g.37955852C>T						EPDR1_ENST00000476620.1_Intron	p.P96P	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	665	-			96			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.288G>A	CCDS5453.1																																																																																				0.632	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		10	90	0	0	0	0.411799	0	10	90				
UBP1	7342	broad.mit.edu	37	3	33427049	33427049	+	IGR	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:33427049A>G	ENST00000283629.3	-	0	4148				FBXL2_ENST00000446237.3_Silent_p.T148T|FBXL2_ENST00000507198.1_Silent_p.T339T|FBXL2_ENST00000542085.1_Silent_p.T117T|FBXL2_ENST00000538181.1_Silent_p.T323T|FBXL2_ENST00000538892.1_Silent_p.T339T|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000484457.1_Silent_p.T407T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)						angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCCCACCGACAGCAGTGGCAG	0.532																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(1219-1221)acA>acG		F-box and leucine-rich repeat protein 2							141.0	135.0	137.0					3																	33427049		2203	4300	6503	SO:0001628	intergenic_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33427049A>G	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749		3.37:g.33427049A>G						FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_Silent_p.T117T|FBXL2_ENST00000538892.1_Silent_p.T339T|FBXL2_ENST00000538181.1_Silent_p.T323T|FBXL2_ENST00000507198.1_Silent_p.T339T|FBXL2_ENST00000446237.3_Silent_p.T148T	p.T407T	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			15	1312	+			407					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.1221A>G	CCDS2659.1																																																																																				0.532	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		11	220	0	0	0	0.435327	0	11	220				
SNW1	22938	broad.mit.edu	37	14	78189539	78189539	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:78189539G>T	ENST00000261531.7	-	11	1177	c.1115C>A	c.(1114-1116)gCa>gAa	p.A372E	SNW1_ENST00000555761.1_Missense_Mutation_p.A372E|SNW1_ENST00000554775.1_Missense_Mutation_p.A210E|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	372					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCAGGAGCTGCCCTGGAAAG	0.517																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1114-1116)gCa>gAa		SNW domain containing 1							149.0	118.0	128.0					14																	78189539		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78189539G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1115C>A	14.37:g.78189539G>T	ENSP00000261531:p.Ala372Glu					SNW1_ENST00000555761.1_Missense_Mutation_p.A372E|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.A210E	p.A372E	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	11	1177	-			372					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1115C>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262630	0.80358	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.972;0.986	T	0.69548	-0.5116	9	0.12430	T	0.62	.	19.8289	0.96627	0.0:0.0:1.0:0.0	.	372;372	G3V3A4;Q13573	.;SNW1_HUMAN	E	372;210;372	.	ENSP00000261531:A372E	A	-	2	0	SNW1	77259292	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.537000	0.98070	2.692000	0.91855	0.467000	0.42956	GCA		0.517	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		35	182	1	0	7.63505e-26	0.760397	9.57915e-26	35	182				
SLC6A18	348932	broad.mit.edu	37	5	1246007	1246007	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1246007G>A	ENST00000324642.3	+	12	1824	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	567					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGGCTGGGCGCGCGCCGCCT	0.716																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1699-1701)gcG>gcA		solute carrier family 6 (neutral amino acid transporter), member 18							18.0	21.0	20.0					5																	1246007		2201	4296	6497	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1246007G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1701G>A	5.37:g.1246007G>A							p.A567A	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	1824	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		567						Silent	SNP	ENST00000324642.3	37	c.1701G>A	CCDS3860.1																																																																																				0.716	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		4	60	0	0	0	0.150653	0	4	60				
NCKAP1L	3071	broad.mit.edu	37	12	54932700	54932700	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:54932700G>A	ENST00000293373.6	+	30	3295	c.3216G>A	c.(3214-3216)caG>caA	p.Q1072Q	NCKAP1L_ENST00000545638.2_Silent_p.Q1022Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1072					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGGCCAGGAGACTGACA	0.448																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(3214-3216)caG>caA		NCK-associated protein 1-like							91.0	83.0	86.0					12																	54932700		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54932700G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3216G>A	12.37:g.54932700G>A						NCKAP1L_ENST00000545638.2_Silent_p.Q1022Q	p.Q1072Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			30	3295	+			1072					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.3216G>A	CCDS31813.1																																																																																				0.448	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		3	87	0	0	0	0.150653	0	3	87				
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:72468481C>T	ENST00000373207.1	+	4	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R273C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(817-819)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							149.0	118.0	128.0					10																	72468481		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72468481C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.817C>T	10.37:g.72468481C>T	ENSP00000362303:p.Arg273Cys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C	p.R273C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			4	817	+			273			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.817C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587712	0.86851	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.64438	-0.1;-0.1	4.48	4.48	0.54585	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.069352	0.64402	D	0.000016	T	0.79203	0.4406	M	0.77406	2.37	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.75020	0.978;0.985	T	0.82460	-0.0446	10	0.66056	D	0.02	.	16.9214	0.86165	0.0:1.0:0.0:0.0	.	273;273	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	C	273	ENSP00000362304:R273C;ENSP00000362303:R273C	ENSP00000362303:R273C	R	+	1	0	ADAMTS14	72138487	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.622000	0.83099	2.320000	0.78422	0.491000	0.48974	CGC		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		8	125	0	0	0	0.307466	0	8	125				
GCAT	23464	broad.mit.edu	37	22	38209492	38209492	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:38209492C>T	ENST00000248924.6	+	4	508	c.452C>T	c.(451-453)gCa>gTa	p.A151V	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000323205.6_Missense_Mutation_p.A177V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	151					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CCAGAGGACGCAGTCCTGTCG	0.607																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(529-531)gCa>gTa		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						33.0	28.0	30.0					22																	38209492		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38209492C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.452C>T	22.37:g.38209492C>T	ENSP00000248924:p.Ala151Val					GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Missense_Mutation_p.A151V	p.A177V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			4	593	+	Melanoma(58;0.045)		151					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.530C>T	CCDS13957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294192|5.294192	0.95546|0.95546	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000323205;ENST00000248924;ENST00000394944|ENST00000451984	D;D|.	0.94687|.	-3.49;-3.49|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68522|.	0.3010|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.976|.	T|.	0.63616|.	-0.6597|.	10|.	0.87932|.	D|.	0|.	-10.6512|-10.6512	19.5008|19.5008	0.95093|0.95093	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;151|.	E2QC23;O75600|.	.;KBL_HUMAN|.	V|X	177;151;177|198	ENSP00000371110:A177V;ENSP00000248924:A151V|.	ENSP00000248924:A151V|.	A|Q	+|+	2|1	0|0	GCAT|GCAT	36539438|36539438	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.694000|0.694000	0.40290|0.40290	7.158000|7.158000	0.77470|0.77470	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.607	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		5	14	0	0	0	0.184627	0	5	14				
ATP2C2	9914	broad.mit.edu	37	16	84492949	84492949	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:84492949A>G	ENST00000262429.4	+	23	2379	c.2290A>G	c.(2290-2292)Atc>Gtc	p.I764V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.I764V|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	764					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGCCATGCAGATCCTATGGAT	0.637																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2290-2292)Atc>Gtc		ATPase, Ca++ transporting, type 2C, member 2							63.0	70.0	68.0					16																	84492949		2054	4192	6246	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492949A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2290A>G	16.37:g.84492949A>G	ENSP00000262429:p.Ile764Val					ATP2C2_ENST00000262429.4_Missense_Mutation_p.I764V|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR	p.I764V			O75185	AT2C2_HUMAN			23	2379	+			764					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2290A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508415	0.85282	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.97378	-2.61;-4.36	4.68	4.68	0.58851	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.98614	0.9536	M	0.91972	3.26	0.54753	D	0.999989	D;D;D;D	0.76494	0.975;0.999;0.985;0.999	P;D;P;D	0.91635	0.668;0.998;0.873;0.999	D	0.99597	1.0977	10	0.72032	D	0.01	.	13.5937	0.61975	1.0:0.0:0.0:0.0	.	764;613;781;764	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	764;764;613	ENSP00000397925:I764V;ENSP00000262429:I764V	ENSP00000262429:I764V	I	+	1	0	ATP2C2	83050450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.083000	0.94067	1.865000	0.54081	0.459000	0.35465	ATC		0.637	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		69	122	0	0	0	0.870114	0	69	122				
DNAJC3	5611	broad.mit.edu	37	13	96412305	96412305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:96412305G>A	ENST00000602402.1	+	6	675	c.558G>A	c.(556-558)tgG>tgA	p.W186*	DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.W135*	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	186					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TTTGTGTTTGGGATGCAGAAC	0.343																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(556-558)tgG>tgA		DnaJ (Hsp40) homolog, subfamily C, member 3							117.0	115.0	116.0					13																	96412305		2203	4300	6503	SO:0001587	stop_gained	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96412305G>A	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.558G>A	13.37:g.96412305G>A	ENSP00000473631:p.Trp186*					DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.W135*	p.W186*	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		6	675	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		186					Q86WT9|Q8N4N2	Nonsense_Mutation	SNP	ENST00000602402.1	37	c.558G>A	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	37	6.214245	0.97380	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7876	19.5168	0.95168	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000365991:W186X	W	+	3	0	DNAJC3	95210306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.171000	0.94802	2.609000	0.88269	0.561000	0.74099	TGG		0.343	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			4	153	0	0	0	0.150653	0	4	153				
ASXL3	80816	broad.mit.edu	37	18	31323177	31323177	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:31323177A>G	ENST00000269197.5	+	12	3365	c.3365A>G	c.(3364-3366)cAg>cGg	p.Q1122R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1122					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCTCTTCCAGACCTCTAAA	0.507																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3364-3366)cAg>cGg		additional sex combs like 3 (Drosophila)							36.0	37.0	36.0					18																	31323177		1893	4116	6009	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323177A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3365A>G	18.37:g.31323177A>G	ENSP00000269197:p.Gln1122Arg						p.Q1122R	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3365	+			1122					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3365A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331654	0.60853	.	.	ENSG00000141431	ENST00000269197	T	0.51071	0.72	5.91	4.73	0.59995	.	1.557430	0.03507	N	0.219048	T	0.58235	0.2108	L	0.44542	1.39	0.37417	D	0.91349	D	0.57899	0.981	P	0.52109	0.69	T	0.30880	-0.9963	10	0.72032	D	0.01	.	13.1805	0.59651	0.8668:0.1332:0.0:0.0	.	1122	Q9C0F0	ASXL3_HUMAN	R	1122	ENSP00000269197:Q1122R	ENSP00000269197:Q1122R	Q	+	2	0	ASXL3	29577175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.135000	0.57997	1.019000	0.39547	0.533000	0.62120	CAG		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	32	0	0	0	0.115264	0	3	32				
KHNYN	23351	broad.mit.edu	37	14	24900024	24900024	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:24900024C>T	ENST00000251343.5	+	2	227	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	KHNYN_ENST00000556842.1_Missense_Mutation_p.H30Y|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.H30Y|CBLN3_ENST00000555436.1_Nonsense_Mutation_p.W23*|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	30							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACAGCAGCCCCATGTGGAGCG	0.667																																						ENST00000555436.1																			0				central_nervous_system(1)|lung(3)	4						c.(67-69)tGg>tAg		cerebellin 3 precursor							35.0	35.0	35.0					14																	24900024		2203	4299	6502	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24900024C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.88C>T	14.37:g.24900024C>T	ENSP00000251343:p.His30Tyr					KHNYN_ENST00000556842.1_Missense_Mutation_p.H30Y|KHNYN_ENST00000251343.5_Missense_Mutation_p.H30Y|KHNYN_ENST00000553935.1_Missense_Mutation_p.H30Y	p.W23*			Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	1	136	-			0					Q86TZ6|Q8IUQ2|Q96BA9	Nonsense_Mutation	SNP	ENST00000251343.5	37	c.68G>A	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.69|13.69	2.312670|2.312670	0.40895|0.40895	.|.	.|.	ENSG00000100441|ENSG00000139899	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510|ENST00000555436	T;T;T|.	0.22743|.	1.94;1.94;1.94|.	5.24|5.24	-3.87|-3.87	0.04218|0.04218	.|.	1.157610|.	0.06108|.	N|.	0.666707|.	T|.	0.09992|.	0.0245|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|.	0.26155|.	-1.0111|.	10|.	0.40728|.	T|.	0.16|.	.|.	0.7643|0.7643	0.01012|0.01012	0.2359:0.3159:0.1161:0.3321|0.2359:0.3159:0.1161:0.3321	.|.	71;30|.	D3DS77;O15037|.	.;KHNYN_HUMAN|.	Y|X	30|23	ENSP00000251343:H30Y;ENSP00000451106:H30Y;ENSP00000450799:H30Y|.	ENSP00000251343:H30Y|.	H|W	+|-	1|2	0|0	KHNYN|CBLN3	23969864|23969864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.136000|0.136000	0.21042|0.21042	-0.092000|-0.092000	0.11129|0.11129	-0.752000|-0.752000	0.04728|0.04728	0.549000|0.549000	0.68633|0.68633	CAT|TGG		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			9	15	0	0	0	0.307466	0	9	15				
USH2A	7399	broad.mit.edu	37	1	216073542	216073542	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216073542G>C	ENST00000307340.3	-	40	7855	c.7469C>G	c.(7468-7470)tCt>tGt	p.S2490C	USH2A_ENST00000366943.2_Missense_Mutation_p.S2490C|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2490	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAACGATGCAGAAGGATTGGA	0.358										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7468-7470)tCt>tGt		Usher syndrome 2A (autosomal recessive, mild)							101.0	89.0	93.0					1																	216073542		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216073542G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7469C>G	1.37:g.216073542G>C	ENSP00000305941:p.Ser2490Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S2490C|RP5-1111A8.3_ENST00000414995.1_RNA	p.S2490C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	40	7855	-			2490			Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7469C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544937	0.65198	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59364	0.27;0.27	6.06	5.15	0.70609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.166180	0.28742	N	0.014296	T	0.70806	0.3266	M	0.64997	1.995	0.29794	N	0.832979	D	0.89917	1.0	D	0.77004	0.989	T	0.69741	-0.5063	10	0.54805	T	0.06	.	10.6338	0.45551	0.0687:0.1325:0.7989:0.0	.	2490	O75445	USH2A_HUMAN	C	2490	ENSP00000305941:S2490C;ENSP00000355910:S2490C	ENSP00000305941:S2490C	S	-	2	0	USH2A	214140165	1.000000	0.71417	0.998000	0.56505	0.796000	0.44982	4.591000	0.61019	1.559000	0.49555	0.655000	0.94253	TCT		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		3	101	0	0	0	0.150653	0	3	101				
C3orf22	152065	broad.mit.edu	37	3	126272152	126272152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:126272152G>A	ENST00000318225.2	-	2	460	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	28										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CACCTGTACGGAAACTTCTTG	0.567																																						ENST00000318225.2																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7						c.(82-84)Ccg>Tcg		chromosome 3 open reading frame 22							238.0	242.0	241.0					3																	126272152		2203	4300	6503	SO:0001583	missense	152065							g.chr3:126272152G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.82C>T	3.37:g.126272152G>A	ENSP00000316644:p.Pro28Ser						p.P28S	NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	460	-			28					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.82C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654698	0.29425	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.96	2.96	0.34315	.	0.000000	0.32473	N	0.006042	T	0.49098	0.1537	L	0.32530	0.975	0.22989	N	0.998468	D	0.89917	1.0	D	0.91635	0.999	T	0.21827	-1.0234	9	0.87932	D	0	.	9.6359	0.39806	0.0:0.0:1.0:0.0	.	28	Q8N5N4	CC022_HUMAN	S	28	.	ENSP00000316644:P28S	P	-	1	0	C3orf22	127754842	0.261000	0.24063	0.341000	0.25589	0.103000	0.19146	1.669000	0.37492	1.969000	0.57287	0.491000	0.48974	CCG		0.567	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		6	467	0	0	0	0.217242	0	6	467				
SH3KBP1	30011	broad.mit.edu	37	X	19555888	19555888	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:19555888T>G	ENST00000397821.3	-	17	2193	c.1903A>C	c.(1903-1905)Aaa>Caa	p.K635Q	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K598Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.K397Q|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.K374Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	635					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AATAACTGTTTAATCTCTCGT	0.438																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1903-1905)Aaa>Caa		SH3-domain kinase binding protein 1							109.0	101.0	104.0					X																	19555888		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19555888T>G	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1903A>C	X.37:g.19555888T>G	ENSP00000380921:p.Lys635Gln					SH3KBP1_ENST00000541422.1_Missense_Mutation_p.K374Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K598Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.K397Q	p.K635Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			17	2193	-			635					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.1903A>C	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048131	0.75846	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.52322	0.1727	L	0.52573	1.65	0.44635	D	0.997615	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.81914	0.973;0.995;0.994	T	0.50030	-0.8875	10	0.41790	T	0.15	-14.8453	13.1559	0.59516	0.0:0.0:0.0:1.0	.	397;635;598	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	Q	620;635;397;598;374;615	ENSP00000380921:K635Q;ENSP00000369039:K397Q;ENSP00000369020:K598Q;ENSP00000442499:K374Q;ENSP00000369049:K615Q	ENSP00000369020:K598Q	K	-	1	0	SH3KBP1	19465809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.089000	0.64492	1.768000	0.52137	0.486000	0.48141	AAA		0.438	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		61	27	0	0	0	0.870114	0	61	27				
HLA-DQA2	3118	broad.mit.edu	37	6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	rs35633399		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	GTGTTTCTGAGACCAGCTTCC	0.493																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(478-480)gaG>gaC		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						249.0	228.0	235.0					6																	32713716		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713716G>C		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.480G>C	6.37:g.32713716G>C	ENSP00000364076:p.Glu160Asp						p.E160D	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	582	+			160			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.480G>C	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.517	1.107339	0.20714	.	.	ENSG00000237541	ENST00000374940	T	0.03004	4.08	3.06	0.747	0.18371	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.537042	0.19019	U	0.124879	T	0.08088	0.0202	M	0.89287	3.02	0.30450	N	0.775371	D	0.63046	0.992	D	0.68353	0.957	T	0.02244	-1.1189	10	0.72032	D	0.01	.	6.205	0.20598	0.3299:0.0:0.6701:0.0	.	160	P01906	DQA2_HUMAN	D	160	ENSP00000364076:E160D	ENSP00000364076:E160D	E	+	3	2	HLA-DQA2	32821694	1.000000	0.71417	0.993000	0.49108	0.486000	0.33341	0.752000	0.26362	0.005000	0.14708	0.174000	0.16983	GAG		0.493	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		8	376	0	0	0	0.335167	0	8	376				
CUL4A	8451	broad.mit.edu	37	13	113914958	113914958	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:113914958A>C	ENST00000375440.4	+	19	2153	c.2069A>C	c.(2068-2070)cAg>cCg	p.Q690P	CUL4A_ENST00000326335.4_Missense_Mutation_p.Q590P|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q590P|CUL4A_ENST00000451881.1_Missense_Mutation_p.Q590P	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	690					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGAGTGTTTCAGGATAGACAA	0.323																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1768-1770)cAg>cCg		cullin 4A							75.0	72.0	73.0					13																	113914958		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113914958A>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2069A>C	13.37:g.113914958A>C	ENSP00000364589:p.Gln690Pro					CUL4A_ENST00000326335.4_Missense_Mutation_p.Q590P|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q690P|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q590P	p.Q590P	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		19	2018	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	690					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.1769A>C	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406171	0.83230	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.75	5.38	5.38	0.77491	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	H	0.94462	3.54	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.921;0.921	D	0.92227	0.5789	10	0.87932	D	0	-36.4818	15.3802	0.74648	1.0:0.0:0.0:0.0	.	690;690	Q13619;A8MSH7	CUL4A_HUMAN;.	P	590;590;590;690	ENSP00000364590:Q590P;ENSP00000389118:Q590P;ENSP00000322132:Q590P;ENSP00000364589:Q690P	ENSP00000322132:Q590P	Q	+	2	0	CUL4A	112962959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CAG		0.323	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	70	0	0	0	0.115264	0	3	70				
SLC11A2	4891	broad.mit.edu	37	12	51404506	51404506	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:51404506C>T	ENST00000262051.7	-	2	93	c.6G>A	c.(4-6)gtG>gtA	p.V2V	SLC11A2_ENST00000549193.1_5'Flank|SLC11A2_ENST00000541174.2_Silent_p.V2V|SLC11A2_ENST00000545993.2_5'Flank|SLC11A2_ENST00000262052.5_Silent_p.V2V|SLC11A2_ENST00000547688.1_Silent_p.V31V|SLC11A2_ENST00000547198.1_Silent_p.V2V|SLC11A2_ENST00000394904.3_Silent_p.V31V|SLC11A2_ENST00000546743.1_5'UTR	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CAGGACCCAGCACCATGGTGG	0.363																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(91-93)gtG>gtA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							93.0	81.0	85.0					12																	51404506		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51404506C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.6G>A	12.37:g.51404506C>T						SLC11A2_ENST00000547688.1_Silent_p.V31V|SLC11A2_ENST00000541174.2_Silent_p.V2V|SLC11A2_ENST00000547198.1_Silent_p.V2V|SLC11A2_ENST00000262051.7_Silent_p.V2V|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000262052.5_Silent_p.V2V	p.V31V	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			2	142	-			2					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.93G>A	CCDS53792.1																																																																																				0.363	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			10	53	0	0	0	0.435327	0	10	53				
C1GALT1	56913	broad.mit.edu	37	7	7278537	7278537	+	Missense_Mutation	SNP	A	A	G	rs369665733		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:7278537A>G	ENST00000223122.3	+	2	934	c.872A>G	c.(871-873)tAt>tGt	p.Y291C	C1GALT1_ENST00000436587.2_Missense_Mutation_p.Y291C|C1GALT1_ENST00000402468.3_Missense_Mutation_p.Y291C			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	291					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATTACAACTATTATCCTCCT	0.313																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(871-873)tAt>tGt		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1		A	CYS/TYR	1,4399		0,1,2199	28.0	26.0	27.0		872	4.2	1.0	7		27	0,8582		0,0,4291	no	missense	C1GALT1	NM_020156.3	194	0,1,6490	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	291/364	7278537	1,12981	2200	4291	6491	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278537A>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.872A>G	7.37:g.7278537A>G	ENSP00000223122:p.Tyr291Cys					C1GALT1_ENST00000402468.3_Missense_Mutation_p.Y291C|C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y291C	p.Y291C	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	1095	+			291					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.872A>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143076	0.57044	2.27E-4	0.0	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.60920	0.3;0.3;0.15	5.43	4.23	0.50019	.	0.307238	0.36740	N	0.002438	T	0.74801	0.3764	M	0.81942	2.565	0.58432	D	0.999992	D;D	0.89917	1.0;0.967	D;P	0.79784	0.993;0.635	T	0.76130	-0.3072	9	.	.	.	-10.7409	11.7977	0.52110	0.8683:0.0:0.0:0.1317	.	291;291	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	C	291	ENSP00000389176:Y291C;ENSP00000223122:Y291C;ENSP00000384550:Y291C	.	Y	+	2	0	C1GALT1	7245062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.879000	0.56138	0.955000	0.37878	0.528000	0.53228	TAT		0.313	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		107	50	0	0	0	0.870114	0	107	50				
FGD4	121512	broad.mit.edu	37	12	32777925	32777925	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:32777925A>G	ENST00000427716.2	+	13	1982	c.1558A>G	c.(1558-1560)Atc>Gtc	p.I520V	FGD4_ENST00000534526.2_Missense_Mutation_p.I657V|FGD4_ENST00000531134.1_Missense_Mutation_p.I605V|FGD4_ENST00000546442.1_Missense_Mutation_p.I427V|FGD4_ENST00000525053.1_Missense_Mutation_p.I632V|FGD4_ENST00000266482.3_Missense_Mutation_p.I272V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	520	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCAAGAAACCATCGATGCTTT	0.308																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1558-1560)Atc>Gtc		FYVE, RhoGEF and PH domain containing 4							132.0	141.0	138.0					12																	32777925		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32777925A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1558A>G	12.37:g.32777925A>G	ENSP00000394487:p.Ile520Val					FGD4_ENST00000534526.2_Missense_Mutation_p.I657V|FGD4_ENST00000525053.1_Missense_Mutation_p.I632V|FGD4_ENST00000546442.1_Missense_Mutation_p.I427V|FGD4_ENST00000266482.3_Missense_Mutation_p.I272V|FGD4_ENST00000531134.1_Missense_Mutation_p.I605V	p.I520V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			13	1982	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		520			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1558A>G	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810229	0.50421	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.81	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.134068	0.33610	N	0.004721	T	0.77377	0.4121	M	0.68317	2.08	0.80722	D	1	B;B;B;P	0.37525	0.112;0.066;0.049;0.598	B;B;B;P	0.45449	0.12;0.17;0.062;0.481	T	0.77104	-0.2711	10	0.56958	D	0.05	-12.1973	11.986	0.53147	0.9318:0.0:0.0682:0.0	.	632;605;520;272	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	V	657;605;520;272;427;632	ENSP00000449273:I657V;ENSP00000431323:I605V;ENSP00000394487:I520V;ENSP00000266482:I272V;ENSP00000446695:I427V;ENSP00000433666:I632V	ENSP00000266482:I272V	I	+	1	0	FGD4	32669192	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	6.421000	0.73353	0.986000	0.38683	0.533000	0.62120	ATC		0.308	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		117	121	0	0	0	0.870114	0	117	121				
RBM26	64062	broad.mit.edu	37	13	79911341	79911341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:79911341C>A	ENST00000438737.2	-	19	3069	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	RBM26_ENST00000438724.1_Missense_Mutation_p.G853W|RBM26_ENST00000267229.7_Missense_Mutation_p.G850W			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	877					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACACCTCGCCCTCGCCCTCGC	0.557																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2629-2631)Ggg>Tgg		RNA binding motif protein 26							113.0	92.0	99.0					13																	79911341		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911341C>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2629G>T	13.37:g.79911341C>A	ENSP00000387531:p.Gly877Trp					RBM26_ENST00000438724.1_Missense_Mutation_p.G853W|RBM26_ENST00000267229.7_Missense_Mutation_p.G850W	p.G877W			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	3069	-		Acute lymphoblastic leukemia(28;0.0279)	877					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2629G>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.789323	0.90367	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.63744	-0.06;-0.06	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83090	-0.0133	9	.	.	.	-9.9491	18.4093	0.90546	0.0:1.0:0.0:0.0	.	234;853;877;850	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	W	63;850;878;877;853	ENSP00000267229:G850W;ENSP00000390222:G853W	.	G	-	1	0	RBM26	78809342	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.406000	0.81754	0.650000	0.86243	GGG		0.557	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		7	107	1	0	8.12818e-05	0.248553	8.99077e-05	7	107				
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G|ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001					ENST00000392232.3																			4	Substitution - Missense(4)	p.V241G(4)	lung(2)|endometrium(2)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1045-1047)gTc>gGc		zinc finger protein 181							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G|ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G	p.V349G			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1214	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1046T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		5	124	0	0	0	0.184627	0	5	124				
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C	rs201174878		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K314K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(940-942)aaA>aaG		zinc finger, DHHC-type containing 11							168.0	117.0	134.0					5																	825360		2203	4296	6499	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825360T>C	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.942A>G	5.37:g.825360T>C						ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	p.K314K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		8	1325	-			314					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.942A>G	CCDS3857.1																																																																																				0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		13	186	0	0	0	0.500413	0	13	186				
UBXN1	51035	broad.mit.edu	37	11	62445536	62445536	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62445536C>T	ENST00000301935.5	-	5	511	c.345G>A	c.(343-345)cgG>cgA	p.R115R	UBXN1_ENST00000533000.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.R115R|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Silent_p.R115R			Q04323	UBXN1_HUMAN	UBX domain protein 1	115	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						CCAATGCCTCCCGTTCCTCTC	0.587																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(343-345)cgG>cgA		UBX domain protein 1							100.0	80.0	87.0					11																	62445536		2202	4299	6501	SO:0001819	synonymous_variant	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445536C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.345G>A	11.37:g.62445536C>T						UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Silent_p.R115R|UBXN1_ENST00000529640.1_Silent_p.R115R	p.R115R	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			5	476	-			115			Interaction with BRCA1.		Q9BV93|Q9BVV5	Silent	SNP	ENST00000301935.5	37	c.345G>A																																																																																					0.587	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		5	124	0	0	0	0.217242	0	5	124				
ABCB8	11194	broad.mit.edu	37	7	150737355	150737355	+	Splice_Site	SNP	G	G	T	rs199947903		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150737355G>T	ENST00000297504.6	+	11	1335	c.1269G>T	c.(1267-1269)agG>agT	p.R423S	ABCB8_ENST00000356058.4_Splice_Site_p.V445F|ABCB8_ENST00000498578.1_Splice_Site_p.R406S|ABCB8_ENST00000542328.1_Splice_Site_p.R318S|ABCB8_ENST00000358849.4_Splice_Site_p.R406S			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	423	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTTCTGACAGGTCCATGGCCA	0.617																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.e10-1		ATP-binding cassette, sub-family B (MDR/TAP), member 8							161.0	139.0	146.0					7																	150737355		2203	4300	6503	SO:0001630	splice_region_variant	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737355G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1269-1G>T	7.37:g.150737355G>T						ABCB8_ENST00000498578.1_Splice_Site_p.R406_splice|ABCB8_ENST00000542328.1_Splice_Site_p.R318_splice|ABCB8_ENST00000356058.4_Splice_Site_p.V445_splice|ABCB8_ENST00000297504.6_Splice_Site_p.R423_splice	p.R406_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	1311	+			423			ABC transmembrane type-1.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Splice_Site	SNP	ENST00000297504.6	37	c.1217_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.439322|2.439322	0.43326|0.43326	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578|ENST00000356058	D;D;D;D|D	0.89343|0.91124	-2.5;-2.5;-2.5;-2.5|-2.79	4.87|4.87	3.97|3.97	0.46021|0.46021	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90205|0.90205	0.6938|0.6938	L|L	0.50919|0.50919	1.6|1.6	0.25192|0.25192	N|N	0.990129|0.990129	P;P;P;P|.	0.50943|.	0.926;0.94;0.94;0.926|.	P;P;P;P|.	0.62014|.	0.835;0.897;0.897;0.835|.	D|D	0.83990|0.83990	0.0337|0.0337	10|7	0.48119|0.54805	T|T	0.1|0.06	.|.	11.4126|11.4126	0.49933|0.49933	0.0916:0.0:0.9084:0.0|0.0916:0.0:0.9084:0.0	.|.	318;406;423;406|.	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2|.	.;.;ABCB8_HUMAN;.|.	S|F	406;389;423;318;406|445	ENSP00000351717:R406S;ENSP00000297504:R423S;ENSP00000438776:R318S;ENSP00000418271:R406S|ENSP00000348353:V445F	ENSP00000297504:R423S|ENSP00000348353:V445F	R|V	+|+	3|1	2|0	ABCB8|ABCB8	150368288|150368288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	3.620000|3.620000	0.54203|0.54203	2.258000|2.258000	0.74832|0.74832	0.561000|0.561000	0.74099|0.74099	AGG|GTC		0.617	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	Missense_Mutation	6	158	1	0	0.00116845	0.217242	0.00125158	6	158				
TMOD4	29765	broad.mit.edu	37	1	151146931	151146931	+	Silent	SNP	C	C	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:151146931C>T	ENST00000416280.2	-	3	315	c.216G>A	c.(214-216)ttG>ttA	p.L72L	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGTTGCTCCAAGTACTGCA	0.552																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(214-216)ttG>ttA		tropomodulin 4 (muscle)							189.0	180.0	183.0					1																	151146931		2203	4300	6503	SO:0001819	synonymous_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151146931C>T	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.216G>A	1.37:g.151146931C>T							p.L72L			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	315	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		124					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Silent	SNP	ENST00000416280.2	37	c.216G>A																																																																																					0.552	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				73	288	0	0	0	0.870114	0	73	288				
TBC1D12	23232	broad.mit.edu	37	10	96201765	96201765	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:96201765A>G	ENST00000225235.4	+	2	1194	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	362							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AACATCCAAAATCATTCAGCA	0.348																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(1084-1086)Atc>Gtc		TBC1 domain family, member 12							102.0	98.0	99.0					10																	96201765		1838	4086	5924	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96201765A>G	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1084A>G	10.37:g.96201765A>G	ENSP00000225235:p.Ile362Val						p.I362V	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			2	1194	+		Colorectal(252;0.0429)	362					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.1084A>G	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630310	0.28978	.	.	ENSG00000108239	ENST00000225235	T	0.56941	0.43	4.48	4.48	0.54585	.	0.543679	0.18373	N	0.143187	T	0.42017	0.1184	L	0.36672	1.1	0.29186	N	0.876154	B	0.19200	0.034	B	0.18561	0.022	T	0.31138	-0.9954	10	0.29301	T	0.29	-4.4534	12.0128	0.53297	1.0:0.0:0.0:0.0	.	362	O60347	TBC12_HUMAN	V	362	ENSP00000225235:I362V	ENSP00000225235:I362V	I	+	1	0	TBC1D12	96191755	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	5.001000	0.63946	1.996000	0.58369	0.528000	0.53228	ATC		0.348	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			3	117	0	0	0	0.115264	0	3	117				
NOD1	10392	broad.mit.edu	37	7	30492295	30492295	+	Silent	SNP	G	G	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:30492295G>A	ENST00000222823.4	-	6	1263	c.738C>T	c.(736-738)gaC>gaT	p.D246D	NOD1_ENST00000423334.2_Missense_Mutation_p.T201I	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	246	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GACACAGCCTGTCACTTTCCT	0.617																																						ENST00000423334.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(601-603)aCa>aTa		nucleotide-binding oligomerization domain containing 1							77.0	78.0	78.0					7																	30492295		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492295G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.738C>T	7.37:g.30492295G>A						NOD1_ENST00000222823.4_Silent_p.D246D	p.T201I			Q9Y239	NOD1_HUMAN			7	1043	-			201			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.602C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.172747	0.01646	.	.	ENSG00000106100	ENST00000423334	.	.	.	5.54	1.07	0.20283	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.19451	-1.0305	7	0.34782	T	0.22	.	8.7731	0.34745	0.0:0.4241:0.2703:0.3056	.	201	B4DTU3	.	I	201	.	ENSP00000409416:T201I	T	-	2	0	NOD1	30458820	0.000000	0.05858	0.004000	0.12327	0.672000	0.39443	-0.940000	0.03929	0.645000	0.30675	0.563000	0.77884	ACA		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			12	333	0	0	0	0.411799	0	12	333				
TGFBR3	7049	broad.mit.edu	37	1	92177865	92177865	+	Missense_Mutation	SNP	G	G	A	rs537982098		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177865G>A	ENST00000525962.1	-	12	2162	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F	TGFBR3_ENST00000212355.4_Missense_Mutation_p.L701F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.L700F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	701	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTAGAAAGAGCAGTGAGGTG	0.478																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2101-2103)Ctc>Ttc		transforming growth factor, beta receptor III							112.0	105.0	108.0					1																	92177865		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177865G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2101C>T	1.37:g.92177865G>A	ENSP00000436127:p.Leu701Phe					TGFBR3_ENST00000370399.2_Missense_Mutation_p.L700F|TGFBR3_ENST00000525962.1_Missense_Mutation_p.L701F	p.L701F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2566	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	701			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.2101C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524061	0.85600	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	6.16	6.16	0.99307	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89531	0.3785	9	.	.	.	-26.6556	20.8598	0.99761	0.0:0.0:1.0:0.0	.	700;701	Q03167-2;Q03167	.;TGBR3_HUMAN	F	701;700;701;700	ENSP00000212355:L701F;ENSP00000359426:L700F;ENSP00000436127:L701F;ENSP00000432638:L700F	.	L	-	1	0	TGFBR3	91950453	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.048000	0.93830	2.937000	0.99478	0.650000	0.86243	CTC		0.478	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		21	48	0	0	0	0.624587	0	21	48				
GLP2R	9340	broad.mit.edu	37	17	9739771	9739771	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:9739771T>C	ENST00000262441.5	+	3	874	c.361T>C	c.(361-363)Tac>Cac	p.Y121H	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	121					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CTGCCCTTCATACTTACCTTG	0.448																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(361-363)Tac>Cac		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						272.0	247.0	255.0					17																	9739771		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9739771T>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.361T>C	17.37:g.9739771T>C	ENSP00000262441:p.Tyr121His					GLP2R_ENST00000574745.1_5'UTR	p.Y121H	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			3	874	+			121					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.361T>C	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625081	0.87560	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.58358	0.34	5.42	5.42	0.78866	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.34676	N	0.003765	T	0.74344	0.3704	M	0.82323	2.585	0.49687	D	0.999816	D	0.89917	1.0	D	0.91635	0.999	T	0.78957	-0.1999	10	0.87932	D	0	.	14.441	0.67318	0.0:0.0:0.0:1.0	.	121	O95838	GLP2R_HUMAN	H	121;96;121	ENSP00000262441:Y121H	ENSP00000262441:Y121H	Y	+	1	0	GLP2R	9680496	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.013000	0.76373	2.068000	0.61886	0.460000	0.39030	TAC		0.448	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			96	214	0	0	0	0.870114	0	96	214				
PIBF1	10464	broad.mit.edu	37	13	73467981	73467981	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:73467981A>T	ENST00000326291.6	+	11	1720	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	461						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CATCAAAGTAAATTAAAATCT	0.343																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1381-1383)aAa>aTa		progesterone immunomodulatory binding factor 1							68.0	69.0	68.0					13																	73467981		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73467981A>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1382A>T	13.37:g.73467981A>T	ENSP00000317144:p.Lys461Ile						p.K461I	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1720	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	461					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1382A>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692984	0.88735	.	.	ENSG00000083535	ENST00000326291	T	0.33216	1.42	5.0	5.0	0.66597	.	0.097634	0.64402	D	0.000002	T	0.51500	0.1678	M	0.68593	2.085	0.58432	D	0.999994	D;D	0.67145	0.996;0.996	D;D	0.64410	0.925;0.925	T	0.53222	-0.8469	10	0.51188	T	0.08	-21.0322	14.9973	0.71443	1.0:0.0:0.0:0.0	.	461;461	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	I	461	ENSP00000317144:K461I	ENSP00000317144:K461I	K	+	2	0	PIBF1	72365982	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.238000	0.72350	2.005000	0.58758	0.528000	0.53228	AAA		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		32	81	0	0	0	0.740014	0	32	81				
ECHS1	1892	broad.mit.edu	37	10	135182483	135182483	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:135182483T>C	ENST00000368547.3	-	4	813	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	153					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CTCACCGGCATAGATGATATC	0.488																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(457-459)tAt>tGt		enoyl CoA hydratase, short chain, 1, mitochondrial							121.0	110.0	114.0					10																	135182483		2203	4297	6500	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135182483T>C		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.458A>G	10.37:g.135182483T>C	ENSP00000357535:p.Tyr153Cys						p.Y153C	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	4	813	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	153					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.458A>G	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961100	0.74016	.	.	ENSG00000127884	ENST00000368547	T	0.68331	-0.32	5.81	5.81	0.92471	Crotonase, core (1);	0.057719	0.64402	D	0.000001	T	0.80696	0.4672	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82802	-0.0277	10	0.87932	D	0	.	14.1661	0.65477	0.0:0.0:0.0:1.0	.	153	P30084	ECHM_HUMAN	C	153	ENSP00000357535:Y153C	ENSP00000357535:Y153C	Y	-	2	0	ECHS1	135032473	1.000000	0.71417	0.989000	0.46669	0.844000	0.47949	4.152000	0.58111	2.230000	0.72887	0.529000	0.55759	TAT		0.488	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			17	53	0	0	0	0.575678	0	17	53				
ATR	545	broad.mit.edu	37	3	142275364	142275364	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:142275364T>G	ENST00000350721.4	-	9	2060	c.1939A>C	c.(1939-1941)Ata>Cta	p.I647L	ATR_ENST00000383101.3_Missense_Mutation_p.I583L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	647					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGGAATATTCTTCTTGGA	0.383								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1939-1941)Ata>Cta	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							92.0	96.0	94.0					3																	142275364		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142275364T>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1939A>C	3.37:g.142275364T>G	ENSP00000343741:p.Ile647Leu					ATR_ENST00000383101.3_Missense_Mutation_p.I583L	p.I647L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			9	2060	-			647					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1939A>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082703	0.36758	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.64260	-0.09;-0.09	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.115039	0.64402	D	0.000013	T	0.42268	0.1195	N	0.14661	0.345	0.36137	D	0.846545	B	0.09022	0.002	B	0.09377	0.004	T	0.46735	-0.9170	10	0.23302	T	0.38	-25.4643	10.2728	0.43493	0.1473:0.0:0.0:0.8527	.	647	Q13535	ATR_HUMAN	L	647;583;264	ENSP00000343741:I647L;ENSP00000372581:I583L	ENSP00000343741:I647L	I	-	1	0	ATR	143758054	0.991000	0.36638	1.000000	0.80357	0.748000	0.42578	1.625000	0.37029	2.202000	0.70862	0.528000	0.53228	ATA		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		107	184	0	0	0	0.870114	0	107	184				
NAT8	9027	broad.mit.edu	37	2	73868718	73868718	+	Missense_Mutation	SNP	T	T	C	rs74434404		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:73868718T>C	ENST00000272425.3	-	2	187	c.38A>G	c.(37-39)gAc>gGc	p.D13G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CCACTGGCGGTCGCTCTCCTG	0.587																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(37-39)gAc>gGc		N-acetyltransferase 8 (GCN5-related, putative)							57.0	67.0	63.0					2																	73868718		2202	4300	6502	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868718T>C	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.38A>G	2.37:g.73868718T>C	ENSP00000272425:p.Asp13Gly						p.D13G	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	187	-			13						Missense_Mutation	SNP	ENST00000272425.3	37	c.38A>G	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.462844	0.63513	.	.	ENSG00000144035	ENST00000272425	T	0.57907	0.37	3.86	3.86	0.44501	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.83118	2.625	0.29473	N	0.856875	D	0.89917	1.0	D	0.97110	1.0	T	0.69793	-0.5049	10	0.66056	D	0.02	-49.6578	11.3146	0.49383	0.0:0.0:0.0:1.0	.	13	Q9UHE5	NAT8_HUMAN	G	13	ENSP00000272425:D13G	ENSP00000272425:D13G	D	-	2	0	NAT8	73722226	0.999000	0.42202	0.004000	0.12327	0.005000	0.04900	4.703000	0.61824	1.715000	0.51383	0.524000	0.50904	GAC		0.587	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		11	161	0	0	0	0.387290	0	11	161				
PLOD2	5352	broad.mit.edu	37	3	145789099	145789099	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:145789099C>A	ENST00000360060.3	-	17	2074	c.1897G>T	c.(1897-1899)Gtt>Ttt	p.V633F	PLOD2_ENST00000282903.5_Missense_Mutation_p.V654F|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.V314F|PLOD2_ENST00000494950.1_Missense_Mutation_p.V599F|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	633					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTCAGTGTAACTGGTGCAATG	0.408																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1960-1962)Gtt>Ttt		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						124.0	107.0	113.0					3																	145789099		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding	g.chr3:145789099C>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1897G>T	3.37:g.145789099C>A	ENSP00000353170:p.Val633Phe					PLOD2_ENST00000461497.1_Missense_Mutation_p.V314F|PLOD2_ENST00000360060.3_Missense_Mutation_p.V633F|PLOD2_ENST00000494950.1_Missense_Mutation_p.V599F|RP11-274H2.2_ENST00000480247.1_RNA	p.V654F	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			18	2137	-			633			Fe2OG dioxygenase.		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1960G>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837801	0.71373	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;T;T;T	0.90955	-2.76;-0.16;-0.18;-0.15	5.15	5.15	0.70609	Prolyl 4-hydroxylase, alpha subunit (1);	0.117382	0.56097	D	0.000022	D	0.91304	0.7258	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.51791	0.947;0.913;0.948;0.823	P;P;P;B	0.53450	0.466;0.564;0.726;0.359	D	0.89710	0.3911	10	0.33141	T	0.24	-31.5574	12.0349	0.53418	0.0:0.9201:0.0:0.0799	.	599;633;654;314	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	F	314;654;633;599	ENSP00000419354:V314F;ENSP00000282903:V654F;ENSP00000353170:V633F;ENSP00000420094:V599F	ENSP00000282903:V654F	V	-	1	0	PLOD2	147271789	0.999000	0.42202	0.565000	0.28409	0.986000	0.74619	4.096000	0.57734	2.406000	0.81754	0.585000	0.79938	GTT		0.408	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		4	154	1	0	0.00024832	0.150653	0.00027135	4	154				
MDM2	4193	broad.mit.edu	37	12	69233471	69233471	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:69233471A>G	ENST00000350057.5	+	9	1243	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Missense_Mutation_p.I79V|MDM2_ENST00000428863.2_Missense_Mutation_p.I219V|MDM2_ENST00000356290.4_Missense_Mutation_p.I270V|MDM2_ENST00000393410.1_Missense_Mutation_p.I192V|MDM2_ENST00000360430.2_Missense_Mutation_p.I245V|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.I385V|MDM2_ENST00000393413.3_Missense_Mutation_p.I167V|MDM2_ENST00000393412.3_Missense_Mutation_p.I167V|MDM2_ENST00000462284.1_Missense_Mutation_p.I446V|MDM2_ENST00000258148.7_Missense_Mutation_p.I391V|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000299252.4_Missense_Mutation_p.I270V|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.I214V|MDM2_ENST00000540827.1_Missense_Mutation_p.I245V			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	440	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACCTTGTGTGATTTGTCAAGG	0.408			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(1336-1338)Att>Gtt		MDM2 oncogene, E3 ubiquitin protein ligase							140.0	134.0	136.0					12																	69233471		1917	4138	6055	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233471A>G		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.1243A>G	12.37:g.69233471A>G	ENSP00000266624:p.Ile415Val					MDM2_ENST00000360430.2_Missense_Mutation_p.I245V|MDM2_ENST00000356290.4_Missense_Mutation_p.I270V|MDM2_ENST00000350057.5_Missense_Mutation_p.I415V|MDM2_ENST00000258148.7_Missense_Mutation_p.I391V|MDM2_ENST00000348801.2_Missense_Mutation_p.I214V|MDM2_ENST00000299252.4_Missense_Mutation_p.I270V|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.I245V|MDM2_ENST00000517852.1_Missense_Mutation_p.I79V|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Missense_Mutation_p.I219V|MDM2_ENST00000258149.5_Missense_Mutation_p.I385V|MDM2_ENST00000393410.1_Missense_Mutation_p.I192V|MDM2_ENST00000393412.3_Missense_Mutation_p.I167V|MDM2_ENST00000393413.3_Missense_Mutation_p.I167V	p.I446V	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1638	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		440			Necessary for interaction with USP2.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.1336A>G		.	.	.	.	.	.	.	.	.	.	A	15.37	2.814618	0.50527	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.36	5.36	0.76844	Zinc finger, RING-type (2);	0.044764	0.85682	D	0.000000	D	0.82572	0.5066	L	0.38692	1.165	0.58432	D	0.999999	P;D;P;D;P;D;D;D;D;D	0.89917	0.917;0.998;0.867;0.998;0.801;0.958;0.961;1.0;0.984;0.993	P;D;P;D;P;D;P;D;D;D	0.87578	0.813;0.997;0.79;0.998;0.907;0.97;0.877;0.997;0.986;0.986	T	0.81665	-0.0830	9	.	.	.	-10.6034	15.6671	0.77238	1.0:0.0:0.0:0.0	.	395;219;167;192;270;440;391;245;79;446	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q9H4C3;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.;.	V	446;395;385;270;245;219;167;401;391;167;415;192;270;245;79;214	ENSP00000417281:I446V;ENSP00000258149:I385V;ENSP00000348637:I270V;ENSP00000440932:I245V;ENSP00000410694:I219V;ENSP00000377064:I167V;ENSP00000258148:I391V;ENSP00000377065:I167V;ENSP00000266624:I415V;ENSP00000377062:I192V;ENSP00000299252:I270V;ENSP00000353611:I245V;ENSP00000430257:I79V;ENSP00000335096:I214V	.	I	+	1	0	MDM2	67519738	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	8.740000	0.91579	2.157000	0.67596	0.533000	0.62120	ATT		0.408	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		9	114	0	0	0	0.335167	0	9	114				
OLFML2A	169611	broad.mit.edu	37	9	127572376	127572376	+	Silent	SNP	C	C	T	rs372227389		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:127572376C>T	ENST00000373580.3	+	8	1644	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	OLFML2A_ENST00000288815.5_Silent_p.I334I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	548	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCGAGGTGATCGTCCTGAGTC	0.662																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1642-1644)atC>atT		olfactomedin-like 2A							51.0	50.0	50.0					9																	127572376		2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127572376C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1644C>T	9.37:g.127572376C>T						OLFML2A_ENST00000288815.5_Silent_p.I334I	p.I548I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1644	+			548			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.1644C>T	CCDS6857.2																																																																																				0.662	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		47	46	0	0	0	0.870114	0	47	46				
PCDH15	65217	broad.mit.edu	37	10	56138621	56138621	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:56138621T>C	ENST00000320301.6	-	4	633	c.239A>G	c.(238-240)aAt>aGt	p.N80S	PCDH15_ENST00000414778.1_Missense_Mutation_p.N85S|PCDH15_ENST00000395445.1_Missense_Mutation_p.N80S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N80S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373965.2_Missense_Mutation_p.N80S|PCDH15_ENST00000373955.1_Missense_Mutation_p.N80S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395438.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N58S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N58S|PCDH15_ENST00000437009.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N80S|PCDH15_ENST00000395440.1_Missense_Mutation_p.N80S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAATCCACATTATCCTTTAA	0.423										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(238-240)aAt>aGt		protocadherin-related 15							153.0	161.0	158.0					10																	56138621		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138621T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.239A>G	10.37:g.56138621T>C	ENSP00000322604:p.Asn80Ser	HNSCC(58;0.16)				PCDH15_ENST00000395440.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N80S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N80S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N58S|PCDH15_ENST00000320301.6_Missense_Mutation_p.N80S|PCDH15_ENST00000437009.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373955.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N58S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395445.1_Missense_Mutation_p.N80S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N85S	p.N80S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			4	633	-		Melanoma(3;0.117)|Lung SC(717;0.238)	80			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.239A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507392	0.85282	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.48;0.51;0.45;0.44;0.46;0.73;0.64;0.28;0.33;0.35;0.33;0.34;0.34;0.42;0.54;0.27	5.19	5.19	0.71726	Cadherin (1);	.	.	.	.	T	0.63651	0.2529	N	0.24115	0.695	0.44018	D	0.996732	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.998;0.998;0.997;0.999;0.997;0.997;0.999;0.996;0.999;1.0;1.0;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.989;0.97;0.952;0.952;0.995;0.97;0.989;0.995;0.952;0.93;0.997;0.997;0.999;0.995;0.952	T	0.66196	-0.5984	9	0.48119	T	0.1	.	14.7072	0.69200	0.0:0.0:0.0:1.0	.	58;80;80;85;80;80;80;80;80;80;80;85;80;58;80	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	80;85;80;80;80;80;80;80;80;80;58;58;80;80;85;80;80;80	ENSP00000363076:N80S;ENSP00000410304:N85S;ENSP00000378826:N80S;ENSP00000378832:N80S;ENSP00000378833:N80S;ENSP00000378829:N80S;ENSP00000378827:N80S;ENSP00000378820:N80S;ENSP00000354950:N80S;ENSP00000378821:N58S;ENSP00000363068:N58S;ENSP00000322604:N80S;ENSP00000378818:N80S;ENSP00000412628:N80S;ENSP00000363066:N80S;ENSP00000394465:N80S	ENSP00000322604:N80S	N	-	2	0	PCDH15	55808627	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.027000	0.88791	1.980000	0.57719	0.523000	0.50628	AAT		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		37	300	0	0	0	0.804634	0	37	300				
SLC19A3	80704	broad.mit.edu	37	2	228560672	228560672	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:228560672T>C	ENST00000258403.3	-	4	1176	c.1105A>G	c.(1105-1107)Atc>Gtc	p.I369V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.I365V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	369					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CACGCCCAGATATTGGCTGTG	0.428																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1105-1107)Atc>Gtc		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						83.0	91.0	88.0					2																	228560672		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560672T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1105A>G	2.37:g.228560672T>C	ENSP00000258403:p.Ile369Val					SLC19A3_ENST00000541617.1_Missense_Mutation_p.I365V|SLC19A3_ENST00000409287.1_Intron	p.I369V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1176	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	369						Missense_Mutation	SNP	ENST00000258403.3	37	c.1105A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621666	0.66787	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.88664	-2.41;-2.41	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);	0.048813	0.85682	N	0.000000	D	0.93135	0.7814	M	0.71871	2.18	0.58432	D	0.999998	D;D	0.71674	0.993;0.998	P;D	0.67382	0.839;0.951	D	0.92935	0.6367	10	0.44086	T	0.13	-25.0759	14.927	0.70887	0.0:0.0:0.0:1.0	.	365;369	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	369;365	ENSP00000258403:I369V;ENSP00000445519:I365V	ENSP00000258403:I369V	I	-	1	0	SLC19A3	228268916	1.000000	0.71417	0.989000	0.46669	0.815000	0.46073	5.709000	0.68384	2.111000	0.64477	0.533000	0.62120	ATC		0.428	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			6	109	0	0	0	0.217242	0	6	109				
OR5L2	26338	broad.mit.edu	37	11	55595192	55595192	+	Silent	SNP	C	C	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:55595192C>A	ENST00000378397.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I166I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCTTAGGATCCTCTTCTATA	0.478										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - coding silent(1)	p.I166I(1)	lung(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(496-498)atC>atA		olfactory receptor, family 5, subfamily L, member 2							218.0	195.0	203.0					11																	55595192		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595192C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.498C>A	11.37:g.55595192C>A		HNSCC(27;0.073)					p.I166I	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	498	+		all_epithelial(135;0.208)	166					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.498C>A	CCDS31511.1																																																																																				0.478	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		13	431	1	0	0.00185496	0.435327	0.00197911	13	431				
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del						p.G59del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	3						7	3	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141110541	141110542	+	Frame_Shift_Ins	INS	-	-	TT	rs144480841		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:141110541_141110542insTT	ENST00000389484.3	-	76	12601_12602	c.11630_11631insAA	c.(11629-11631)aatfs	p.N3877fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3877	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N3877S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCAGGTGTTATTTCTTTCTTG	0.307										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.N3877S(1)	kidney(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11629-11631)aaafs		low density lipoprotein receptor-related protein 1B																																				SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110541_141110542insTT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11629_11630dupAA	2.37:g.141110542_141110543dupTT	ENSP00000374135:p.Asn3877fs	TSP Lung(27;0.18)					p.K3877fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	76	12601_12602	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3877			EGF-like 9.		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	ENST00000389484.3	37	c.11630_11631insAA	CCDS2182.1																																																																																				0.307	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	271						12	271	---	---	---	---
AC018359.1	0	broad.mit.edu	37	3	34317623	34317626	+	lincRNA	DEL	TCCT	TCCT	-	rs13071656|rs541416564|rs75774239|rs199880681|rs530671151	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:34317623_34317626delTCCT	ENST00000424786.1	+	0	159																											cctccctccctcctttccttcctt	0.52																																						ENST00000424786.1																			0																																																			0							g.chr3:34317623_34317626delTCCT																													3.37:g.34317623_34317626delTCCT														0	159	+									RNA	DEL	ENST00000424786.1	37																																																																																						0.520	AC018359.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341538.1			3	6						3	6	---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50380780	50380781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:50380780_50380781insC	ENST00000231749.3	-	5	1739_1740	c.467_468insG	c.(466-468)ggcfs	p.G156fs	ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.G156fs|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	156					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAGGGGGGCCACCACAGCC	0.604										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(466-468)gccfs		zinc finger, MYND-type containing 10																																				SO:0001589	frameshift_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50380780_50380781insC	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.468dupG	3.37:g.50380782_50380782dupC	ENSP00000231749:p.Gly156fs	TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.A156fs|ZMYND10-AS1_ENST00000440013.1_RNA	p.A156fs	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	1739_1740	-			156					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Ins	INS	ENST00000231749.3	37	c.467_468insG	CCDS2825.1																																																																																				0.604	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		7	120						7	120	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187542087	187542088	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:187542087_187542088insA	ENST00000441802.2	-	10	5861_5862	c.5652_5653insT	c.(5650-5655)tatgaafs	p.E1885fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1885	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGAGATGCTTCATATAATGGCT	0.396										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5650-5655)taaagcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542087_187542088insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5653dupT	4.37:g.187542088_187542088dupA	ENSP00000406229:p.Glu1885fs	HNSCC(5;0.00058)					p.*S1884fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5861_5862	-			1884			Cadherin 17.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.5652_5653insT	CCDS47177.1																																																																																				0.396	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	56						16	56	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	4883							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		10	322						10	322	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2719-2721)ggfs		erbb2 interacting protein							571.0	551.0	558.0					5																	65349867		2203	4300	6503	SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349867delA		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2721delA	5.37:g.65349867delA	ENSP00000284037:p.Gly907fs					ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3110	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	907					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	ENST00000284037.5	37	c.2721delA	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		8	2177						8	2177	---	---	---	---
FAM153B	202134	broad.mit.edu	37	5	175540969	175540989	+	In_Frame_Del	DEL	AAGCCCAAGAAGAAAACCAGG	AAGCCCAAGAAGAAAACCAGG	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:175540969_175540989delAAGCCCAAGAAGAAAACCAGG	ENST00000253490.4	+	21	1138_1158	c.1081_1101delAAGCCCAAGAAGAAAACCAGG	c.(1081-1101)aagcccaagaagaaaaccaggdel	p.KPKKKTR361del	FAM153B_ENST00000515817.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000510151.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000512862.1_In_Frame_Del_p.KPKKKTR118del			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	361										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAAACCAGAAAGCCCAAGAAGAAAACCAGGAAGCCCAGCA	0.471																																						ENST00000253490.4																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(1081-1101)del		family with sequence similarity 153, member B																																				SO:0001651	inframe_deletion	202134							g.chr5:175540969_175540989delAAGCCCAAGAAGAAAACCAGG	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.1081_1101delAAGCCCAAGAAGAAAACCAGG	5.37:g.175540969_175540989delAAGCCCAAGAAGAAAACCAGG	ENSP00000253490:p.Lys361_Arg367del					FAM153B_ENST00000512862.1_In_Frame_Del_p.KPKKKTR118del|FAM153B_ENST00000515817.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000510151.1_In_Frame_Del_p.KPKKKTR284del	p.KPKKKTR361del			P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	21	1138_1158	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	361					A8MTI1	In_Frame_Del	DEL	ENST00000253490.4	37	c.1081_1101delAAGCCCAAGAAGAAAACCAGG																																																																																					0.471	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		4	7						4	7	---	---	---	---
HLA-DQB1	3119	broad.mit.edu	37	6	32632675	32632675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32632675delC	ENST00000399084.1	-	3	457	c.279delG	c.(277-279)tggfs	p.W93fs	XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399082.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	93	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TCTGGCTGTTCCAGTACTCGG	0.637									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	ENST00000399084.1																			0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(277-279)tgfs		major histocompatibility complex, class II, DQ beta 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						39.0	41.0	40.0					6																	32632675		2054	4177	6231	SO:0001589	frameshift_variant	3119	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32632675delC		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.279delG	6.37:g.32632675delC	ENSP00000382034:p.Trp93fs					HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.W93fs	p.W93fs			P01920	DQB1_HUMAN			3	457	-			93			Beta-1.		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Frame_Shift_Del	DEL	ENST00000399084.1	37	c.279delG	CCDS43451.1																																																																																				0.637	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		8	206						8	206	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	8	664						8	664	---	---	---	---
UBXN8	7993	broad.mit.edu	37	8	30612473	30612474	+	RNA	INS	-	-	T	rs549841322|rs34741520		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:30612473_30612474insT	ENST00000519246.1	+	0	604							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						GGGGTTGGTCGttttttttttt	0.391																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8																																						7993				single fertilization			g.chr8:30612473_30612474insT	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30612484_30612484dupT										O00124	UBXN8_HUMAN			0	604	+								Q7Z6F2	RNA	INS	ENST00000519246.1	37																																																																																						0.391	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		3	5						3	5	---	---	---	---
RP11-10H3.1	0	broad.mit.edu	37	8	50103332	50103333	+	lincRNA	INS	-	-	CTTC	rs79172779		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:50103332_50103333insCTTC	ENST00000518222.1	+	0	271																											ttccttccttcctttcttcctt	0.416																																						ENST00000518222.1																			0																																																			0							g.chr8:50103332_50103333insCTTC																													8.37:g.50103329_50103332dupCTTC														0	271	+									RNA	INS	ENST00000518222.1	37																																																																																						0.416	RP11-10H3.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377820.1			3	4						3	4	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98718215	98718215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:98718215delT	ENST00000288985.7	+	13	2205	c.1900delT	c.(1900-1902)tgtfs	p.C634fs	ERCC6L2_ENST00000437817.1_Frame_Shift_Del_p.C445fs|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	634	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GATTGGACAATGTAGAGATGT	0.358																																						ENST00000288985.7																			0											c.(1900-1902)gtfs		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							133.0	128.0	130.0					9																	98718215		2203	4299	6502	SO:0001589	frameshift_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98718215delT	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1900delT	9.37:g.98718215delT	ENSP00000288985:p.Cys634fs					ERCC6L2_ENST00000437817.1_Frame_Shift_Del_p.C445fs|ERCC6L2_ENST00000466840.1_3'UTR	p.C634fs	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			13	2205	+			634			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Frame_Shift_Del	DEL	ENST00000288985.7	37	c.1900delT	CCDS35072.1																																																																																				0.358	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		14	170						14	170	---	---	---	---
PGAM1	5223	broad.mit.edu	37	10	99186064	99186065	+	De_novo_Start_InFrame	INS	-	-	A	rs373359947		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:99186064_99186065insA	ENST00000334828.5	+	0	148_149				AL355490.1_ENST00000439965.2_5'Flank	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		AGCCCGCCGCCATGGCCGCCTA	0.713																																						ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6								phosphoglycerate mutase 1 (brain)																																						5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99186064_99186065insA	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846		10.37:g.99186065_99186065dupA								NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	0	148_149	+		Colorectal(252;0.162)						Q9BWC0	Translation_Start_Site	INS	ENST00000334828.5	37		CCDS7458.1																																																																																				0.713	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		12	41						12	41	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47594940	47594940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47594940delC	ENST00000526005.1	-	4	1252	c.1099delG	c.(1099-1101)gctfs	p.A367fs	PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.A392fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.A383fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTGACACAGCCACCTCTAGC	0.507																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1174-1176)ctfs		kelch repeat and BTB (POZ) domain containing 4							90.0	89.0	89.0					11																	47594940		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47594940delC	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1099delG	11.37:g.47594940delC	ENSP00000433340:p.Ala367fs					PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.A383fs|NDUFS3_ENST00000533507.1_Intron	p.A392fs			Q9NVX7	KBTB4_HUMAN			3	1888	-			367					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.1174delG	CCDS7940.1																																																																																				0.507	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		9	128						9	128	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892538	58892542	+	Frame_Shift_Del	DEL	AAATT	AAATT	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:58892538_58892542delAAATT	ENST00000343597.3	+	4	1159_1163	c.968_972delAAATT	c.(967-972)caaattfs	p.QI323fs	FAM111B_ENST00000529618.1_Frame_Shift_Del_p.QI293fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.QI293fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	323							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGCAGAGAGCAAATTCTCCCACCTC	0.366																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(967-972)cfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892538_58892542delAAATT	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.968_972delAAATT	11.37:g.58892538_58892542delAAATT	ENSP00000341565:p.Gln323fs					FAM111B_ENST00000411426.1_Frame_Shift_Del_p.QI293fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.QI293fs	p.QI323fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1159_1163	+			323					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.968_972delAAATT	CCDS7972.1																																																																																				0.366	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		12	177						12	177	---	---	---	---
TMPRSS13	84000	broad.mit.edu	37	11	117789435	117789449	+	In_Frame_Del	DEL	GCTGGAGATGCCTGG	GCTGGAGATGCCTGG	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:117789435_117789449delGCTGGAGATGCCTGG	ENST00000430170.2	-	2	213_227	c.126_140delCCAGGCATCTCCAGC	c.(124-141)gcccaggcatctccagct>gct	p.42_47AQASPA>A	TMPRSS13_ENST00000445164.2_In_Frame_Del_p.42_47AQASPA>A|TMPRSS13_ENST00000524993.1_In_Frame_Del_p.42_47AQASPA>A|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.42_47AQASPA>A|TMPRSS13_ENST00000528626.1_In_Frame_Del_p.42_47AQASPA>A	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	42	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGGTGTCCCAGCTGGAGATGCCTGGGCTGGAGATG	0.66																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(124-141)gct>gc		transmembrane protease, serine 13																																				SO:0001651	inframe_deletion	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789435_117789449delGCTGGAGATGCCTGG	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.126_140delCCAGGCATCTCCAGC	11.37:g.117789435_117789449delGCTGGAGATGCCTGG	ENSP00000387702:p.Ala42_Pro46del					TMPRSS13_ENST00000524993.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000430170.2_In_Frame_Del_p.AQASPA42del	p.AQASPA42del	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	199_213	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	42			12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	In_Frame_Del	DEL	ENST00000430170.2	37	c.126_140delCCAGGCATCTCCAGC	CCDS58185.1																																																																																				0.660	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		51	53						51	53	---	---	---	---
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs148531142|rs184322044|rs142692092		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(394-414)ggt>gg		keratin 3				595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del					KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	470_487	-			132			Gly-rich.|Head.		A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	c.396_413delAGGGGCTGGTGGCTTTGG	CCDS44895.1																																																																																				0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		10	11						10	11	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79933679	79933679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:79933679delG	ENST00000557594.1	+	2	1316	c.363delG	c.(361-363)gtgfs	p.V121fs	NRXN3_ENST00000428277.2_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000281127.7_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V753fs|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Frame_Shift_Del_p.V753fs	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	121	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCACCACTGTGAAGGATGGCA	0.562																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(361-363)gtfs		neurexin 3							124.0	107.0	113.0					14																	79933679		2203	4300	6503	SO:0001589	frameshift_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933679delG	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.363delG	14.37:g.79933679delG	ENSP00000451672:p.Val121fs					NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V753fs|NRXN3_ENST00000557594.1_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000554719.1_Frame_Shift_Del_p.V753fs	p.V121fs	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1242	+		Renal(4;0.00876)	121			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Frame_Shift_Del	DEL	ENST00000557594.1	37	c.363delG																																																																																					0.562	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		7	289						7	289	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101513129	101513130	+	lincRNA	INS	-	-	TGG	rs60759868|rs397946692|rs138069781	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:101513129_101513130insTGG	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA|MIR655_ENST00000362159.2_RNA|MIR487B_ENST00000385021.1_RNA|MIR381_ENST00000362150.1_RNA|MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR1185-2_ENST00000408687.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		GAAACTATCATtggtggtggtg	0.515														1399	0.279353	0.0855	0.33	5008	,	,		20219	0.5714		0.163	False		,,,				2504	0.3241					ENST00000553692.1																			0																																																			378881							g.chr14:101513129_101513130insTGG	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101513136_101513138dupTGG														0	28	+									RNA	INS	ENST00000553692.1	37																																																																																						0.515	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			2	4						2	4	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691798	106691800	+	RNA	DEL	AAC	AAC	-	rs553767931	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:106691798_106691800delAAC	ENST00000390607.2	-	0	302_304									immunoglobulin heavy variable 3-21																		TAGTATATGTAACTACTACTACT	0.517																																						ENST00000390607.2																			0																																																			28444							g.chr14:106691798_106691800delAAC	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691798_106691800delAAC														0	302_304	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		30	583						30	583	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52338753	52338754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:52338753_52338754insT	ENST00000261845.5	+	2	903_904	c.96_97insT	c.(97-99)ttgfs	p.L33fs		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GAGGCAATGGCTTGGTTTTTTC	0.396																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(94-99)ggtggtfs		mitogen-activated protein kinase 6				7,4257		0,7,2125						4.5	1.0			133	25,8229		0,25,4102	no	frameshift	MAPK6	NM_002748.3		0,32,6227	A1A1,A1R,RR		0.3029,0.1642,0.2556				32,12486				SO:0001589	frameshift_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338753_52338754insT	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.98dupT	15.37:g.52338755_52338755dupT	ENSP00000261845:p.Leu33fs						p.G33fs	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	903_904	+			33			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Frame_Shift_Ins	INS	ENST00000261845.5	37	c.96_97insT	CCDS10147.1																																																																																				0.396	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		18	174						18	174	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907760	77907760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:77907760delA	ENST00000355300.6	-	2	663	c.489delT	c.(487-489)tttfs	p.F163fs	LINGO1_ENST00000561030.1_Frame_Shift_Del_p.F157fs	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	163					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTCCTGAAACATGTAGT	0.552																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(487-489)ttfs		leucine rich repeat and Ig domain containing 1							143.0	148.0	146.0					15																	77907760		2155	4239	6394	SO:0001589	frameshift_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907760delA	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.489delT	15.37:g.77907760delA	ENSP00000347451:p.Phe163fs					LINGO1_ENST00000561030.1_Frame_Shift_Del_p.F157fs	p.F163fs	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	663	-			163					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Frame_Shift_Del	DEL	ENST00000355300.6	37	c.489delT	CCDS45313.1																																																																																				0.552	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		13	283						13	283	---	---	---	---
KCNAB3	9196	broad.mit.edu	37	17	7829006	7829007	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7829006_7829007insT	ENST00000303790.2	-	7	531_532	c.532_533insA	c.(532-534)attfs	p.I178fs		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	178					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CTCACCCTCAATGATGTGCTTT	0.5																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(532-534)tgafs		potassium voltage-gated channel, shaker-related subfamily, beta member 3																																				SO:0001589	frameshift_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7829006_7829007insT	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.533dupA	17.37:g.7829007_7829007dupT	ENSP00000302719:p.Ile178fs						p.*178fs	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			7	531_532	-		Prostate(122;0.157)	178					Q4VAW0	Frame_Shift_Ins	INS	ENST00000303790.2	37	c.532_533insA	CCDS11124.1																																																																																				0.500	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		70	681						70	681	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41223266	41223267	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:41223266_41223267insT	ENST00000263370.2	+	1	259_260	c.226_227insT	c.(226-228)ctcfs	p.L76fs	ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	76					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGGCCGGCCTCGGGCCTGCG	0.757																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(226-228)cggfs		inositol-trisphosphate 3-kinase C																																				SO:0001589	frameshift_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223266_41223267insT	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.227dupT	19.37:g.41223267_41223267dupT	ENSP00000263370:p.Leu76fs						p.R76fs	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	259_260	+			76					Q9UE25|Q9Y475	Frame_Shift_Ins	INS	ENST00000263370.2	37	c.226_227insT	CCDS12563.1																																																																																				0.757	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		7	29						7	29	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39141797	39141797	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:39141797delG	ENST00000405510.1	-	9	1063	c.705delC	c.(703-705)cccfs	p.P235fs	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Frame_Shift_Del_p.P224fs|SUN2_ENST00000216064.4_Frame_Shift_Del_p.P235fs|SUN2_ENST00000405018.1_Frame_Shift_Del_p.P256fs|SUN2_ENST00000406622.1_Frame_Shift_Del_p.P235fs|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	235					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCAGCCCATAGGGGTAGAAAT	0.622																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(703-705)ccfs		Sad1 and UNC84 domain containing 2							57.0	55.0	55.0					22																	39141797		2203	4300	6503	SO:0001589	frameshift_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141797delG	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.705delC	22.37:g.39141797delG	ENSP00000385740:p.Pro235fs					SUN2_ENST00000216064.4_Frame_Shift_Del_p.P235fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Frame_Shift_Del_p.P224fs|SUN2_ENST00000406622.1_Frame_Shift_Del_p.P235fs|SUN2_ENST00000405018.1_Frame_Shift_Del_p.P256fs	p.P235fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1063	-			235					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Frame_Shift_Del	DEL	ENST00000405510.1	37	c.705delC	CCDS13978.1																																																																																				0.622	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		21	39						21	39	---	---	---	---
NUP50	10762	broad.mit.edu	37	22	45579372	45579372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:45579372delA	ENST00000347635.4	+	7	1641	c.1175delA	c.(1174-1176)cagfs	p.Q392fs	NUP50_ENST00000425733.2_Frame_Shift_Del_p.Q142fs|NUP50_ENST00000407019.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000396096.2_Frame_Shift_Del_p.Q364fs	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	392	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAAGACACAGCTTTTGGTG	0.383																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1174-1176)cgfs		nucleoporin 50kDa							92.0	93.0	92.0					22																	45579372		2203	4300	6503	SO:0001589	frameshift_variant	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45579372delA	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1175delA	22.37:g.45579372delA	ENSP00000345895:p.Gln392fs					NUP50_ENST00000407019.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000396096.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000425733.2_Frame_Shift_Del_p.Q142fs	p.Q392fs	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	7	1641	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	392			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Frame_Shift_Del	DEL	ENST00000347635.4	37	c.1175delA	CCDS14062.1																																																																																				0.383	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			34	84						34	84	---	---	---	---
