#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
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	159	0	0	0	1	0	4	159				
EPX	8288	broad.mit.edu	37	17	56281693	56281693	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:56281693G>C	ENST00000225371.5	+	12	2167	c.2057G>C	c.(2056-2058)aGg>aCg	p.R686T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	686					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACGGTTTCAAGGGACATCTTC	0.512																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(2056-2058)aGg>aCg		eosinophil peroxidase							110.0	96.0	101.0					17																	56281693		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281693G>C	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2057G>C	17.37:g.56281693G>C	ENSP00000225371:p.Arg686Thr						p.R686T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2167	+			686					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.2057G>C	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494198	0.26774	.	.	ENSG00000121053	ENST00000225371	T	0.68903	-0.36	5.62	3.64	0.41730	.	0.264861	0.41938	D	0.000786	T	0.71779	0.3380	M	0.69823	2.125	0.09310	N	1	P	0.45011	0.848	P	0.52031	0.688	T	0.61715	-0.7006	10	0.29301	T	0.29	-18.0962	10.5999	0.45360	0.1578:0.0:0.8422:0.0	.	686	P11678	PERE_HUMAN	T	686	ENSP00000225371:R686T	ENSP00000225371:R686T	R	+	2	0	EPX	53636692	0.000000	0.05858	0.342000	0.25602	0.889000	0.51656	-0.051000	0.11885	0.736000	0.32559	0.563000	0.77884	AGG		0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	78	0	0	0	1	0	4	78				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	95	0	0	0	1	0	4	95				
CASP3	836	broad.mit.edu	37	4	185553476	185553476	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:185553476C>T	ENST00000308394.4	-	5	515	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	85					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	TTATTCCTGACTTCATATTTC	0.338																																						ENST00000308394.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(253-255)Gtc>Atc		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						128.0	120.0	123.0					4																	185553476		2203	4300	6503	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185553476C>T	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.253G>A	4.37:g.185553476C>T	ENSP00000311032:p.Val85Ile					CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I	p.V85I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	5	515	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	85					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.253G>A	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075339	0.55646	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000438467;ENST00000517513;ENST00000393588;ENST00000447121	T;T;T;T;T;T	0.56275	0.47;3.53;0.47;3.53;3.53;3.53	6.17	5.33	0.75918	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.110082	0.64402	D	0.000007	T	0.53061	0.1773	M	0.73598	2.24	0.58432	D	0.999999	B;B	0.34103	0.156;0.437	B;B	0.33254	0.16;0.11	T	0.57015	-0.7883	10	0.54805	T	0.06	.	11.9645	0.53027	0.1229:0.8134:0.0:0.0637	.	85;85	P42574;A8MVM1	CASP3_HUMAN;.	I	85;85;85;94;85;85;85	ENSP00000311032:V85I;ENSP00000377210:V85I;ENSP00000428929:V85I;ENSP00000428372:V85I;ENSP00000377213:V85I;ENSP00000407142:V85I	ENSP00000311032:V85I	V	-	1	0	CASP3	185790470	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.641000	0.37197	1.606000	0.50161	-0.182000	0.12963	GTC		0.338	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		4	79	0	0	0	1	0	4	79				
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	121						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.R121H(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(361-363)cGc>cAc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296440G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.362G>A	1.37:g.145296440G>A	ENSP00000345684:p.Arg121His					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R121H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	397	+	all_hematologic(923;0.032)		121					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.362G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.583	-0.836154	0.02713	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02837	4.14	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00384	0.0012	N	0.17474	0.49	0.09310	N	1	.	.	.	.	.	.	T	0.41288	-0.9517	7	0.15952	T	0.53	.	2.435	0.04480	0.3331:0.0:0.2034:0.4635	.	.	.	.	H	121;46;121	ENSP00000345684:R121H	ENSP00000345684:R121H	R	+	2	0	NBPF10	144007797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.405000	0.01045	-3.091000	0.00247	-1.767000	0.00664	CGC		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	398	0	0	0	1	0	6	398				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	149	0	0	0	1	0	6	149				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	45	0	0	0	1	0	4	45				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	38	0	0	0	1	0	4	38				
PCID2	55795	broad.mit.edu	37	13	113854816	113854816	+	Missense_Mutation	SNP	G	G	C	rs373967872		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr13:113854816G>C	ENST00000337344.4	-	2	127	c.51C>G	c.(49-51)atC>atG	p.I17M	PCID2_ENST00000375459.1_Missense_Mutation_p.I15M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000375457.2_Missense_Mutation_p.I15M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000375479.2_Missense_Mutation_p.I17M	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	17					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTCTGCTGTCGATGGCTTCGT	0.418																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(43-45)atC>atG		PCI domain containing 2							112.0	113.0	112.0					13																	113854816		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854816G>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.51C>G	13.37:g.113854816G>C	ENSP00000337405:p.Ile17Met					PCID2_ENST00000375479.2_Missense_Mutation_p.I17M|PCID2_ENST00000351317.3_Missense_Mutation_p.I17M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000337344.4_Missense_Mutation_p.I17M|PCID2_ENST00000375459.1_Missense_Mutation_p.I15M	p.I15M	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	641	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	17					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.45C>G	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	7.486	0.649608	0.14516	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	-5.0	0.03001	.	0.109437	0.64402	D	0.000011	T	0.55386	0.1917	L	0.55103	1.725	0.48975	D	0.999737	B;B	0.34147	0.438;0.075	B;B	0.39706	0.307;0.023	T	0.51872	-0.8650	9	0.52906	T	0.07	-11.2457	13.2846	0.60235	0.555:0.0:0.445:0.0	.	17;17	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	M	17;17;17;17;15;15;17;15;17	.	ENSP00000246505:I17M	I	-	3	3	PCID2	112902817	0.931000	0.31567	0.300000	0.25030	0.188000	0.23474	0.049000	0.14099	-1.033000	0.03299	0.655000	0.94253	ATC		0.418	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		4	65	0	0	0	1	0	4	65				
OPRM1	4988	broad.mit.edu	37	6	154414493	154414493	+	Intron	SNP	G	G	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr6:154414493G>T	ENST00000330432.7	+	3	1401				OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.R418I|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000518759.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTCTTGTCAGATATGACCTC	0.512																																						ENST00000229768.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1252-1254)aGa>aTa		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						241.0	230.0	234.0					6																	154414493		1980	4165	6145	SO:0001627	intron_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154414493G>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1886G>T	6.37:g.154414493G>T						OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000330432.7_Intron	p.R418I	NM_001008505.1	NP_001008505.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1303	+		Ovarian(120;0.196)	0					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1253G>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	5.991	0.366772	0.11352	.	.	ENSG00000112038	ENST00000229768	T	0.71222	-0.55	5.91	1.79	0.24919	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	8	0.87932	D	0	.	4.4757	0.11739	0.0:0.3778:0.1626:0.4596	.	418	P35372-3	.	I	418	ENSP00000229768:R418I	ENSP00000229768:R418I	R	+	2	0	OPRM1	154456186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.485000	0.06520	-0.202000	0.10268	-0.120000	0.15030	AGA		0.512	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		5	191	1	0	1.024e-07	1	1.04676e-07	5	191				
NLRP6	171389	broad.mit.edu	37	11	281682	281682	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:281682C>T	ENST00000312165.5	+	4	1948	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NLRP6_ENST00000534750.1_Missense_Mutation_p.R650C	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	650					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGCGAGTGCGCTTCTGCCG	0.637																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1948-1950)Cgc>Tgc		NLR family, pyrin domain containing 6							78.0	84.0	82.0					11																	281682		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281682C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1948C>T	11.37:g.281682C>T	ENSP00000309767:p.Arg650Cys					NLRP6_ENST00000312165.5_Missense_Mutation_p.R650C	p.R650C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2153	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	650					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1948C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.921719	0.02396	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.55234	0.53;0.53	2.93	-4.87	0.03123	.	1.387370	0.05169	N	0.499252	T	0.43033	0.1229	L	0.57536	1.79	0.09310	N	1	B;B	0.18013	0.025;0.013	B;B	0.10450	0.003;0.005	T	0.36089	-0.9762	10	0.56958	D	0.05	.	3.361	0.07186	0.3218:0.2303:0.0:0.4479	.	650;650	E9PJZ8;P59044	.;NALP6_HUMAN	C	650	ENSP00000433617:R650C;ENSP00000309767:R650C	ENSP00000309767:R650C	R	+	1	0	NLRP6	271682	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.644000	0.02002	-1.212000	0.02620	-0.521000	0.04368	CGC		0.637	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	108	0	0	0	1	0	4	108				
ZNF35	7584	broad.mit.edu	37	3	44692675	44692675	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:44692675A>T	ENST00000396056.2	+	2	351	c.116A>T	c.(115-117)cAc>cTc	p.H39L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000542250.1_5'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	39	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAACAAGTGCACTCCGAGAAC	0.542																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(115-117)cAc>cTc		zinc finger protein 35							70.0	69.0	69.0					3																	44692675		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44692675A>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.116A>T	3.37:g.44692675A>T	ENSP00000379368:p.His39Leu					RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L	p.H39L	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	351	+		Ovarian(412;0.0228)	39			Globular domain.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.116A>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	A	13.06	2.122953	0.37436	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164	T	0.09073	3.02	3.7	-4.21	0.03812	.	1.255730	0.05811	N	0.614052	T	0.04724	0.0128	N	0.24115	0.695	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.42965	-0.9420	10	0.54805	T	0.06	1.9234	0.9277	0.01328	0.2582:0.3308:0.2487:0.1623	.	39	P13682	ZNF35_HUMAN	L	39	ENSP00000379368:H39L	ENSP00000296092:H39L	H	+	2	0	ZNF35	44667679	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.614000	0.05604	-0.762000	0.04664	-0.471000	0.05019	CAC		0.542	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		8	106	0	0	0	1	0	8	106				
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	rs200753356	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0.0	0.0029	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.002					ENST00000344876.4																			2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207.0	193.0	197.0		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451498C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1745G>A	4.37:g.138451498C>T	ENSP00000355082:p.Arg582His					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron	p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2131	-	all_hematologic(180;0.24)		582			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1745G>A	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		6	237	0	0	0	1	0	6	237				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	3	0	0	0	1	0	3	3				
USP9X	8239	broad.mit.edu	37	X	41069761	41069761	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41069761G>A	ENST00000324545.8	+	33	5648		c.e33-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCATTTCTTAGGCTTTGGGGT	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e33-1		ubiquitin specific peptidase 9, X-linked							109.0	103.0	105.0					X																	41069761		2160	4277	6437	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41069761G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5016-1G>A	X.37:g.41069761G>A						USP9X_ENST00000378308.2_Splice_Site		NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			33	5648	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37		CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146363	0.77888	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6223	0.88085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40954705	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.090000	0.63153	0.594000	0.82650	.		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	5	112	0	0	0	1	0	5	112				
BRD1	23774	broad.mit.edu	37	22	50192316	50192316	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:50192316C>T	ENST00000216267.8	-	4	2161	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000342989.5_Missense_Mutation_p.A154T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	559					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCTCCATGGCGACCTGCTCC	0.672																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1675-1677)Gcc>Acc		bromodomain containing 1							29.0	29.0	29.0					22																	50192316		2201	4299	6500	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192316C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1675G>A	22.37:g.50192316C>T	ENSP00000216267:p.Ala559Thr					BRD1_ENST00000342989.5_Missense_Mutation_p.A154T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T	p.A559T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	4	2161	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	559					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1675G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498554	0.44455	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.62498	2.43;2.43;2.37;2.19;0.02;0.02	4.96	4.96	0.65561	Bromodomain (1);	0.112377	0.64402	D	0.000011	T	0.56746	0.2006	M	0.64567	1.98	0.45676	D	0.998597	B;B;B;B	0.27559	0.027;0.181;0.015;0.046	B;B;B;B	0.14578	0.004;0.011;0.003;0.009	T	0.55566	-0.8121	10	0.31617	T	0.26	.	13.5565	0.61761	0.0:0.9222:0.0:0.0778	.	559;154;559;559	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	559;559;559;559;252;154;19	ENSP00000216267:A559T;ENSP00000384076:A559T;ENSP00000385858:A559T;ENSP00000410042:A559T;ENSP00000437514:A252T;ENSP00000345886:A154T	ENSP00000216267:A559T	A	-	1	0	BRD1	48578320	0.928000	0.31464	0.999000	0.59377	0.355000	0.29361	1.988000	0.40697	2.316000	0.78162	0.655000	0.94253	GCC		0.672	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		8	12	0	0	0	1	0	8	12				
MUC16	94025	broad.mit.edu	37	19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T	rs201544283		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACACTGGTGCTCTTGAACAA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39625-39627)aGc>aAc		mucin 16, cell surface associated							102.0	85.0	91.0					19																	9006392		2027	4192	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006392C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39626G>A	19.37:g.9006392C>T	ENSP00000381008:p.Ser13209Asn						p.S13209N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39829	-			13211			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39626G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.043467|-2.043467	0.00398|0.00398	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.29397	.|1.57	2.85|2.85	-3.69|-3.69	0.04450|0.04450	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.39044	.|0.0;0.656	.|B;P	.|0.54759	.|0.001;0.76	T|T	0.56763|0.56763	-0.7925|-0.7925	3|7	.|0.87932	.|D	.|0	-2.947|-2.947	10.1049|10.1049	0.42528|0.42528	0.0:0.5653:0.0:0.4347|0.0:0.5653:0.0:0.4347	.|.	.|20854;13209	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	49|13209;340	.|ENSP00000381008:S13209N	.|ENSP00000381008:S13209N	A|S	-|-	1|2	0|0	MUC16|MUC16	8867392|8867392	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.863000|-0.863000	0.04259|0.04259	-1.669000|-1.669000	0.01470|0.01470	-2.594000|-2.594000	0.00164|0.00164	GCA|AGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	145	0	0	0	1	0	5	145				
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.N546K(4)	central_nervous_system(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1636-1638)aaC>aaA		fibroblast growth factor receptor 1	Palifermin(DB00039)						87.0	95.0	92.0					8																	38274849		2154	4289	6443	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274849G>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys					FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K	p.N546K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2579	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	546			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1638C>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	N	0.04387	-0.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				51	62	1	0	2.44813e-32	1	2.55941e-32	51	62				
CHD3	1107	broad.mit.edu	37	17	7803968	7803968	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:7803968G>A	ENST00000330494.7	+	18	3047	c.2897G>A	c.(2896-2898)cGg>cAg	p.R966Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R1025Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	966					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACATGCTGCGGAGACTCAAG	0.512																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3073-3075)cGg>cAg		chromodomain helicase DNA binding protein 3							73.0	71.0	72.0					17																	7803968		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803968G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2897G>A	17.37:g.7803968G>A	ENSP00000332628:p.Arg966Gln					CHD3_ENST00000330494.7_Missense_Mutation_p.R966Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q	p.R1025Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			18	3075	+		Prostate(122;0.202)	966					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3074G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817556	0.70912	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95272	-3.66;-3.66;-3.66	4.73	4.73	0.59995	SNF2-related (1);	0.000000	0.39407	N	0.001368	D	0.97898	0.9309	M	0.92555	3.32	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.80764	0.986;0.992;0.994	D	0.98810	1.0743	10	0.87932	D	0	-21.7737	18.2447	0.89981	0.0:0.0:1.0:0.0	.	966;966;1025	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	1025;966;966	ENSP00000369716:R1025Q;ENSP00000350907:R966Q;ENSP00000332628:R966Q	ENSP00000332628:R966Q	R	+	2	0	CHD3	7744693	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.763000	0.85283	2.627000	0.88993	0.561000	0.74099	CGG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	70	0	0	0	1	0	6	70				
THADA	63892	broad.mit.edu	37	2	43799001	43799001	+	Splice_Site	SNP	C	C	T	rs571141794		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:43799001C>T	ENST00000405006.4	-	13	2260	c.1909G>A	c.(1909-1911)Gta>Ata	p.V637I	THADA_ENST00000403856.1_Splice_Site_p.V637I|THADA_ENST00000402360.2_Splice_Site_p.V637I|THADA_ENST00000404790.1_Splice_Site_p.V637I|THADA_ENST00000415080.2_Splice_Site_p.V347I|THADA_ENST00000330266.7_Splice_Site_p.V347I|THADA_ENST00000405975.2_Splice_Site_p.V637I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	637										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTATCCTTACCTAAAAAACA	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		19503	0.0		0.0	False		,,,				2504	0.001					ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.e14-1		thyroid adenoma associated							99.0	99.0	99.0					2																	43799001		1835	4088	5923	SO:0001630	splice_region_variant	63892						binding	g.chr2:43799001C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1909-1G>A	2.37:g.43799001C>T						THADA_ENST00000415080.2_Splice_Site_p.V347_splice|THADA_ENST00000402360.2_Splice_Site_p.V637_splice|THADA_ENST00000405975.2_Splice_Site_p.V637_splice|THADA_ENST00000330266.7_Splice_Site_p.V347_splice|THADA_ENST00000405006.4_Splice_Site_p.V637_splice|THADA_ENST00000404790.1_Splice_Site_p.V637_splice	p.V637_splice			Q6YHU6	THADA_HUMAN			14	2056	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	637					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37	c.1908_splice	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064687	0.55432	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.44;1.43;1.23	5.16	4.29	0.51040	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.58424	0.2121	M	0.73598	2.24	0.46954	D	0.999265	B;D;D;D;D	0.76494	0.075;0.999;0.991;0.983;0.999	B;D;D;P;D	0.80764	0.074;0.994;0.926;0.776;0.987	T	0.59418	-0.7458	10	0.37606	T	0.19	-5.2672	14.2286	0.65875	0.0:0.9277:0.0:0.0723	.	637;637;637;347;637	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	347;637;637;347;637;637;637;637	ENSP00000331105:V347I;ENSP00000386088:V637I;ENSP00000416048:V347I;ENSP00000385995:V637I;ENSP00000385441:V637I;ENSP00000384266:V637I;ENSP00000385469:V637I	ENSP00000331105:V347I	V	-	1	0	THADA	43652505	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	5.635000	0.67841	1.322000	0.45245	-0.186000	0.12905	GTA		0.318	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Missense_Mutation	5	97	0	0	0	1	0	5	97				
RDH8	50700	broad.mit.edu	37	19	10129527	10129527	+	Missense_Mutation	SNP	G	G	A	rs576680490		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:10129527G>A	ENST00000171214.1	+	3	632	c.383G>A	c.(382-384)gGc>gAc	p.G128D	RDH8_ENST00000591589.1_Missense_Mutation_p.G148D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	128					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCTTCCAGGCATGAAGAGG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0					ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(442-444)gGc>gAc		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						88.0	85.0	86.0					19																	10129527		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10129527G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.383G>A	19.37:g.10129527G>A	ENSP00000171214:p.Gly128Asp					RDH8_ENST00000171214.1_Missense_Mutation_p.G128D	p.G148D			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		3	632	+			128					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.443G>A		.	.	.	.	.	.	.	.	.	.	G	3.858	-0.030382	0.07543	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.34	3.14	0.36123	NAD(P)-binding domain (1);	0.465573	0.25319	N	0.031536	D	0.85652	0.5746	L	0.38733	1.17	0.32445	N	0.546249	B	0.02656	0.0	B	0.11329	0.006	T	0.75169	-0.3412	10	0.02654	T	1	.	8.0772	0.30722	0.0887:0.1635:0.7478:0.0	.	128	Q9NYR8	RDH8_HUMAN	D	128	ENSP00000171214:G128D	ENSP00000171214:G128D	G	+	2	0	RDH8	9990527	0.965000	0.33210	0.609000	0.28983	0.980000	0.70556	2.843000	0.48238	1.177000	0.42855	0.491000	0.48974	GGC		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	79	0	0	0	1	0	4	79				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			339005							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	49	0	0	0	1	0	3	49				
CACNA1H	8912	broad.mit.edu	37	16	1261283	1261283	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:1261283T>A	ENST00000348261.5	+	22	4587	c.4339T>A	c.(4339-4341)Ttg>Atg	p.L1447M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1447					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TTTTGGCATTTTGGGTGTGCA	0.637																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4339-4341)Ttg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						114.0	129.0	124.0					16																	1261283		2163	4243	6406	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261283T>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4339T>A	16.37:g.1261283T>A	ENSP00000334198:p.Leu1447Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M	p.L1447M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			22	4587	+		Hepatocellular(780;0.00369)	1447					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4339T>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279856	0.23392	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98567	-5.0;-5.0	4.35	2.23	0.28157	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.97898	0.9309	L	0.49778	1.585	0.36730	D	0.881661	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.998	D	0.97931	1.0320	10	0.87932	D	0	.	7.8163	0.29260	0.0:0.697:0.0:0.303	.	188;188;188;1447;1447	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1447	ENSP00000334198:L1447M;ENSP00000351401:L1447M	ENSP00000334198:L1447M	L	+	1	2	CACNA1H	1201284	0.904000	0.30761	0.389000	0.26208	0.049000	0.14656	1.362000	0.34148	0.554000	0.29061	-0.608000	0.04076	TTG		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	136	0	0	0	1	0	8	136				
SCUBE2	57758	broad.mit.edu	37	11	9068919	9068919	+	Silent	SNP	A	A	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:9068919A>G	ENST00000309263.3	-	15	1971	c.1899T>C	c.(1897-1899)caT>caC	p.H633H	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000457346.2_Silent_p.H662H|SCUBE2_ENST00000450649.2_Silent_p.H507H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	633						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGTTTTCTGCATGACCCTGGC	0.542																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1984-1986)caT>caC		signal peptide, CUB domain, EGF-like 2							72.0	69.0	70.0					11																	9068919		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9068919A>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1899T>C	11.37:g.9068919A>G						RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.H633H|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000450649.2_Silent_p.H507H	p.H662H			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	2060	-			633					Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1986T>C																																																																																					0.542	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		12	39	0	0	0	1	0	12	39				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:164050124T>C	ENST00000274054.2	-	8	1603	c.1410A>G	c.(1408-1410)ccA>ccG	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccG		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>G	4.37:g.164050124T>C						NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>G	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		11	15	0	0	0	1	0	11	15				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	60	0	0	0	1	0	3	60				
GBA	2629	broad.mit.edu	37	1	155207977	155207977	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:155207977T>G	ENST00000327247.5	-	7	941	c.709A>C	c.(709-711)Aag>Cag	p.K237Q	GBA_ENST00000427500.3_Missense_Mutation_p.K188Q|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.K150Q|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q|GBA_ENST00000536770.1_Missense_Mutation_p.K124Q	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	237			K -> E (in GD; severe; loss of activity; increases susceptibility to proteolytic degradation). {ECO:0000269|PubMed:11933202}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGCTGTCCCTTGAGTGACCCC	0.577									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM020712	GBA	M		c.(448-450)Aag>Cag		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						109.0	92.0	98.0					1																	155207977		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207977T>G	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.709A>C	1.37:g.155207977T>G	ENSP00000314508:p.Lys237Gln					GBA_ENST00000327247.5_Missense_Mutation_p.K237Q|GBA_ENST00000427500.2_Missense_Mutation_p.K188Q|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q|GBA_ENST00000536770.1_Missense_Mutation_p.K124Q	p.K150Q	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	950	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		237					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.448A>C	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.934514	0.34189	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6;-5.6	3.66	3.66	0.41972	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.072863	0.52532	D	0.000080	D	0.98667	0.9553	M	0.82923	2.615	0.50813	D	0.999895	P;P;P	0.51933	0.949;0.616;0.667	P;B;B	0.54431	0.752;0.097;0.22	D	0.98338	1.0537	10	0.34782	T	0.22	.	8.8757	0.35343	0.0:0.0:0.0:1.0	.	188;124;237	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	Q	188;150;237;237;124;194;222	ENSP00000402577:K188Q;ENSP00000397986:K150Q;ENSP00000357357:K237Q;ENSP00000314508:K237Q;ENSP00000445560:K124Q	ENSP00000314508:K237Q	K	-	1	0	GBA	153474601	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.134000	0.77268	1.663000	0.50791	0.248000	0.18094	AAG		0.577	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		14	27	0	0	0	1	0	14	27				
DQX1	165545	broad.mit.edu	37	2	74754875	74754875	+	5'Flank	SNP	G	G	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R277C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(829-831)Cgc>Tgc		ancient ubiquitous protein 1							156.0	170.0	166.0					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered						p.R277C	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			8	1138	-			343					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.829C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	194	0	0	0	1	0	4	194				
USP9X	8239	broad.mit.edu	37	X	41045776	41045776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41045776C>T	ENST00000324545.8	+	24	4198	c.3565C>T	c.(3565-3567)Caa>Taa	p.Q1189*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1189					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGATCAACCAAGTTACCCA	0.408																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3565-3567)Caa>Taa		ubiquitin specific peptidase 9, X-linked							150.0	133.0	139.0					X																	41045776		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41045776C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3565C>T	X.37:g.41045776C>T	ENSP00000316357:p.Gln1189*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189*	p.Q1189*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			24	4198	+			1189					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.3565C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	48	14.703832	0.99806	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.7026	0.91626	0.0:1.0:0.0:0.0	.	.	.	.	X	1189	.	ENSP00000316357:Q1189X	Q	+	1	0	USP9X	40930720	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.445000	0.80570	2.447000	0.82792	0.600000	0.82982	CAA		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	147	0	0	0	1	0	8	147				
DOCK4	9732	broad.mit.edu	37	7	111484935	111484935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr7:111484935C>A	ENST00000437633.1	-	25	2876	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.E874*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	874					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTATTTCCTCCAGCACA	0.428																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2620-2622)Gaa>Taa		dedicator of cytokinesis 4							121.0	118.0	119.0					7																	111484935		1873	4116	5989	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484935C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2620G>T	7.37:g.111484935C>A	ENSP00000404179:p.Glu874*					DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E874*	p.E874*			Q8N1I0	DOCK4_HUMAN			25	2892	-		Acute lymphoblastic leukemia(1;0.0441)	874					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.2620G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.409225|9.409225	0.99163|0.99163	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73691	.|-0.3903	.|4	0.62326|.	D|.	0.03|.	.|.	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	862;874;874;862;873|325;861	.|.	ENSP00000345432:E862X|.	E|R	-|-	1|3	0|2	DOCK4|DOCK4	111272171|111272171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.084000|7.084000	0.76866|0.76866	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.428	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	135	1	0	2.31682e-05	1	2.31682e-05	13	135				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	181	0	0	0	1	0	5	181				
PDE7A	5150	broad.mit.edu	37	8	66635840	66635840	+	Silent	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:66635840T>C	ENST00000401827.3	-	12	1622	c.1179A>G	c.(1177-1179)aaA>aaG	p.K393K	PDE7A_ENST00000379419.4_Silent_p.K367K|PDE7A_ENST00000396642.3_Silent_p.K393K	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	393	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCAAATGATATTTTTTTTCTA	0.294																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(1177-1179)aaA>aaG		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						39.0	41.0	41.0					8																	66635840		2203	4298	6501	SO:0001819	synonymous_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66635840T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1179A>G	8.37:g.66635840T>C						PDE7A_ENST00000396642.3_Silent_p.K393K|PDE7A_ENST00000379419.4_Silent_p.K367K	p.K393K	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		12	1622	-			393			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	c.1179A>G	CCDS56538.1																																																																																				0.294	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			14	21	0	0	0	1	0	14	21				
TATDN2	9797	broad.mit.edu	37	3	10302293	10302293	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:10302293A>C	ENST00000287652.4	+	3	1938	c.887A>C	c.(886-888)gAc>gCc	p.D296A	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	296					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACTGTCATTGACAAATGCTCT	0.473																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(886-888)gAc>gCc		TatD DNase domain containing 2							87.0	89.0	89.0					3																	10302293		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10302293A>C	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.887A>C	3.37:g.10302293A>C	ENSP00000287652:p.Asp296Ala					TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A|RP11-438J1.1_ENST00000450534.1_3'UTR	p.D296A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			3	1938	+			296					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.887A>C	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102026	0.37048	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.24908	1.83;1.83	5.15	5.15	0.70609	.	0.961376	0.08478	N	0.939991	T	0.23014	0.0556	L	0.44542	1.39	0.09310	N	0.999999	P	0.38922	0.651	B	0.30943	0.122	T	0.17592	-1.0364	10	0.72032	D	0.01	-10.5292	11.5386	0.50653	1.0:0.0:0.0:0.0	.	296	Q93075	TATD2_HUMAN	A	296	ENSP00000287652:D296A;ENSP00000408736:D296A	ENSP00000287652:D296A	D	+	2	0	TATDN2	10277293	0.408000	0.25360	0.037000	0.18230	0.538000	0.34931	2.011000	0.40922	2.288000	0.76882	0.533000	0.62120	GAC		0.473	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	134	0	0	0	1	0	4	134				
DEPDC5	9681	broad.mit.edu	37	22	32164840	32164840	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:32164840C>T	ENST00000382112.3	+	6	474	c.404C>T	c.(403-405)gCt>gTt	p.A135V	DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	135					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGGAGTTTGCTGGCATCAGG	0.488																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(403-405)gCt>gTt		DEP domain containing 5							226.0	213.0	217.0					22																	32164840		1953	4152	6105	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32164840C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.404C>T	22.37:g.32164840C>T	ENSP00000371546:p.Ala135Val					DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A135V	p.A135V			O75140	DEPD5_HUMAN			7	546	+			135					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.404C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667570	0.88348	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.44482	1.49;1.51;0.92;1.88;1.89;1.88;1.5;1.89;1.88;1.89	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.34521	1.04	0.80722	D	1	D;D;D;P;D;B	0.71674	0.998;0.998;0.982;0.888;0.998;0.34	D;D;P;P;D;B	0.80764	0.948;0.994;0.903;0.731;0.948;0.176	T	0.42155	-0.9468	10	0.27082	T	0.32	.	16.4014	0.83642	0.0:1.0:0.0:0.0	.	135;107;135;135;135;135	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	V	135;107;135;135;135;135;135;135;135;135;135	ENSP00000440210:A135V;ENSP00000441358:A107V;ENSP00000383101:A135V;ENSP00000266091:A135V;ENSP00000383108:A135V;ENSP00000383105:A135V;ENSP00000371539:A135V;ENSP00000371546:A135V;ENSP00000371545:A135V;ENSP00000383107:A135V	ENSP00000266091:A135V	A	+	2	0	DEPDC5	30494840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.610000	0.74178	2.519000	0.84933	0.655000	0.94253	GCT		0.488	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	134	0	0	0	1	0	4	134				
SDR42E1	93517	broad.mit.edu	37	16	82033014	82033014	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:82033014T>C	ENST00000328945.5	-	3	1011	c.884A>G	c.(883-885)gAg>gGg	p.E295G	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	295					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGAACCATCTCTGTTAGAAA	0.478																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(883-885)gAg>gGg		short chain dehydrogenase/reductase family 42E, member 1							72.0	70.0	71.0					16																	82033014		1933	4144	6077	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033014T>C	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.884A>G	16.37:g.82033014T>C	ENSP00000332407:p.Glu295Gly						p.E295G	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	1011	-			295					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.884A>G	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401563	0.62288	.	.	ENSG00000184860	ENST00000328945	D	0.87029	-2.2	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	H	0.94925	3.6	0.80722	D	1	P	0.42556	0.783	B	0.41174	0.349	D	0.92393	0.5923	10	0.51188	T	0.08	-24.4455	14.3302	0.66550	0.0:0.0:0.0:1.0	.	295	Q8WUS8	D42E1_HUMAN	G	295	ENSP00000332407:E295G	ENSP00000332407:E295G	E	-	2	0	SDR42E1	80590515	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	8.040000	0.89188	1.978000	0.57642	0.533000	0.62120	GAG		0.478	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		5	96	0	0	0	1	0	5	96				
ROBO2	6092	broad.mit.edu	37	3	77614243	77614243	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:77614243T>G	ENST00000461745.1	+	12	2721	c.1821T>G	c.(1819-1821)agT>agG	p.S607R	ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	607	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGACCCAAGTCCCATGTCAG	0.468																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1819-1821)agT>agG		roundabout, axon guidance receptor, homolog 2 (Drosophila)							136.0	135.0	135.0					3																	77614243		1986	4162	6148	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614243T>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1821T>G	3.37:g.77614243T>G	ENSP00000417164:p.Ser607Arg					ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R	p.S607R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2721	+			607			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1821T>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377706	0.61735	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.70749	-0.51;-0.51;-0.51	6.02	-1.74	0.08056	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000047	D	0.87281	0.6138	H	0.97265	3.97	0.49130	D	0.999755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88407	0.3019	9	0.87932	D	0	.	11.5634	0.50792	0.0:0.4115:0.0:0.5885	.	623;607;607	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	623;623;627;607;607;328	ENSP00000417335:S623R;ENSP00000417164:S607R;ENSP00000327536:S607R	ENSP00000327536:S607R	S	+	3	2	ROBO2	77696933	0.031000	0.19500	0.581000	0.28614	0.908000	0.53690	-0.607000	0.05648	-0.717000	0.04955	-0.248000	0.11899	AGT		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		27	68	0	0	0	1	0	27	68				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	161	0	0	0	1	0	5	161				
SGSM1	129049	broad.mit.edu	37	22	25289433	25289433	+	Silent	SNP	C	C	T			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:25289433C>T	ENST00000400359.4	+	18	1978	c.1971C>T	c.(1969-1971)acC>acT	p.T657T	SGSM1_ENST00000400358.4_Silent_p.T602T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	657	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGCACAGACCATGGCTGAGT	0.652																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1804-1806)acC>acT		small G protein signaling modulator 1							34.0	37.0	36.0					22																	25289433		2118	4231	6349	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25289433C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1971C>T	22.37:g.25289433C>T						SGSM1_ENST00000400359.4_Silent_p.T657T	p.T602T	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			17	1863	+			657					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1806C>T	CCDS46674.1																																																																																				0.652	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		3	33	0	0	0	1	0	3	33				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	5						3	5	---	---	---	---
AC023347.1	0	broad.mit.edu	37	2	127069021	127069022	+	lincRNA	INS	-	-	T	rs55911004|rs397735117|rs201650788	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:127069021_127069022insT	ENST00000435352.1	+	0	136																											TAGGAATTTCCTGGTCAAGTCT	0.386													T|T|TT|insertion	1165	0.232628	0.2988	0.1859	5008	,	,		16423	0.3373		0.1968	False		,,,				2504	0.1053					ENST00000435352.1																			0																																																			0							g.chr2:127069021_127069022insT																													2.37:g.127069022_127069022dupT														0	136	+									RNA	INS	ENST00000435352.1	37																																																																																						0.386	AC023347.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000330930.2			4	3						4	3	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		8	68						8	68	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767611	66767611	+	RNA	DEL	T	T	-	rs12531701	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr7:66767611delT	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		ACCGGACTGCTTTTTTTTTTT	0.542																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767611delT	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767611delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	DEL	ENST00000414507.1	37																																																																																						0.542	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	4						3	4	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		3	5						3	5	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			6	9						6	9	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42710138	42710145	+	Frame_Shift_Del	DEL	GCAACCAT	GCAACCAT	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr15:42710138_42710145delGCAACCAT	ENST00000263805.4	-	18	5779_5786	c.5453_5460delATGGTTGC	c.(5452-5460)catggttgcfs	p.HGC1818fs	ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs|ZNF106_ENST00000565611.1_Frame_Shift_Del_p.HGC1003fs	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1818					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ATATCAGAGAGCAACCATGCCACTGGAG	0.476																																						ENST00000263805.4																			0											c.(5452-5460)cfs		zinc finger protein 106																																				SO:0001589	frameshift_variant	64397							g.chr15:42710138_42710145delGCAACCAT	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5453_5460delATGGTTGC	15.37:g.42710138_42710145delGCAACCAT	ENSP00000263805:p.His1818fs					ZNF106_ENST00000565611.1_Frame_Shift_Del_p.HGC1003fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs	p.HGC1818fs	NM_022473.1	NP_071918.1					18	5779_5786	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.5453_5460delATGGTTGC	CCDS32208.1																																																																																				0.476	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		12	25						12	25	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			100216544							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA														0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	5						5	5	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43429531	43429531	+	RNA	DEL	T	T	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:43429531delT	ENST00000406070.2	-	0	1340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				aatatttcaattatcattccc	0.303																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43429531delT			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429531delT						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1340	-		Prostate(69;0.00682)						Q15232	RNA	DEL	ENST00000406070.2	37																																																																																						0.303	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		2	4						2	4	---	---	---	---
KCNJ14	3770	broad.mit.edu	37	19	48965044	48965044	+	Frame_Shift_Del	DEL	G	G	-	rs528333472		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:48965044delG	ENST00000391884.1	+	1	539	c.63delG	c.(61-63)gcgfs	p.A21fs	KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	21					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	ACAGCCGGGCGGGCGATGAAG	0.746																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(61-63)gcfs		potassium inwardly-rectifying channel, subfamily J, member 14							3.0	5.0	4.0					19																	48965044		1600	3478	5078	SO:0001589	frameshift_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965044delG	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.63delG	19.37:g.48965044delG	ENSP00000375756:p.Ala21fs					KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs	p.A21fs			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	539	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	21						Frame_Shift_Del	DEL	ENST00000391884.1	37	c.63delG	CCDS12721.1																																																																																				0.746	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		2	4						2	4	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	388						7	388	---	---	---	---
CYP2D7	1564	broad.mit.edu	37	22	42540245	42540245	+	RNA	DEL	C	C	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:42540245delC	ENST00000358097.4	-	0	266				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						GGTGGGGCATCCTCAGGACCT	0.612																																					GBM(91;329 1845 13264 22235)	ENST00000433992.1																			0				endometrium(1)	1																																														1564							g.chr22:42540245delC																													22.37:g.42540245delC						CYP2D7P1_ENST00000358097.4_RNA								0	292	-									RNA	DEL	ENST00000358097.4	37																																																																																						0.612	CYP2D7P1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000075076.3			2	4						2	4	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41012243	41012246	+	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41012243_41012246delAATC	ENST00000324545.8	+	14	2439_2442	c.1806_1809delAATC	c.(1804-1809)ttaatcfs	p.LI602fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	602					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCATGACTTAATCAATCAACTTC	0.368																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1804-1809)ttfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41012243_41012246delAATC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1806_1809delAATC	X.37:g.41012247_41012250delAATC	ENSP00000316357:p.Leu602fs					USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs	p.LI602fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			14	2439_2442	+			602					O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	c.1806_1809delAATC	CCDS43930.1																																																																																				0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		50	136						50	136	---	---	---	---
