#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
KIAA1586	57691	broad.mit.edu	37	6	56917924	56917924	+	Silent	SNP	A	A	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:56917924A>G	ENST00000370733.4	+	4	834	c.627A>G	c.(625-627)gaA>gaG	p.E209E	KIAA1586_ENST00000545356.1_Silent_p.E182E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	209							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTAGGGAACATGATGTTT	0.313																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(625-627)gaA>gaG		KIAA1586							54.0	56.0	55.0					6																	56917924		2203	4299	6502	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56917924A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.627A>G	6.37:g.56917924A>G						KIAA1586_ENST00000545356.1_Silent_p.E182E	p.E209E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	834	+	Lung NSC(77;0.0969)		209					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.627A>G	CCDS34480.1																																																																																				0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		16	41	0	0	0	1	0	16	41				
TRBV27	28560	broad.mit.edu	37	7	142423623	142423623	+	RNA	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr7:142423623C>T	ENST00000390399.3	+	0	322									T cell receptor beta variable 27																		AGAGGAATTTCCCCCTGATCC	0.498																																						ENST00000506718.1																			0																				56.0	58.0	57.0					7																	142423623		1941	4153	6094			0							g.chr7:142423623C>T	L36092		7q34	2012-02-07			ENSG00000211752	ENSG00000211752		"""T cell receptors / TRB locus"""	12208	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV14S1, TCRBV27S1			OTTHUMG00000158924		7.37:g.142423623C>T						TRBV27_ENST00000390399.3_RNA								0	631	+									RNA	SNP	ENST00000390399.3	37																																																																																						0.498	TRBV27-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352544.2	NG_001333		7	32	0	0	0	1	0	7	32				
TUBB4A	10382	broad.mit.edu	37	19	6496041	6496041	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr19:6496041C>T	ENST00000264071.2	-	4	840	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E157K|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	157					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGGAACTCCTCGCGGATCTTA	0.637																																						ENST00000264071.2																			0											c.(469-471)Gag>Aag		tubulin, beta 4A class IVa							168.0	133.0	145.0					19																	6496041		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496041C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.469G>A	19.37:g.6496041C>T	ENSP00000264071:p.Glu157Lys					TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E157K	p.E157K			P04350	TBB4_HUMAN			4	840	-			157					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.469G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691610	0.68271	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.70986	-0.53;-0.53	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000001	D	0.89326	0.6683	H	0.97611	4.04	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.93261	0.6643	10	0.87932	D	0	.	14.999	0.71455	0.0:1.0:0.0:0.0	.	157	P04350	TBB4A_HUMAN	K	157	ENSP00000264071:E157K;ENSP00000443590:E157K	ENSP00000264071:E157K	E	-	1	0	TUBB4	6447041	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.688000	0.84153	1.795000	0.52594	0.549000	0.68633	GAG		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		17	89	0	0	0	1	0	17	89				
CYSLTR1	10800	broad.mit.edu	37	X	77529210	77529210	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:77529210C>A	ENST00000373304.3	-	3	326	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	12					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGGCATGTGGCAGAAGATACT	0.378																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(34-36)Gcc>Tcc		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						168.0	130.0	143.0					X																	77529210		2203	4299	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77529210C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.34G>T	X.37:g.77529210C>A	ENSP00000362401:p.Ala12Ser						p.A12S	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	326	-			12					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.34G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.930316	0.00488	.	.	ENSG00000173198	ENST00000373304	T	0.68479	-0.33	4.15	3.26	0.37387	.	0.928471	0.09074	N	0.852364	T	0.39784	0.1091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	10	0.07644	T	0.81	.	4.6527	0.12603	0.2196:0.6615:0.0:0.1189	.	12	Q9Y271	CLTR1_HUMAN	S	12	ENSP00000362401:A12S	ENSP00000362401:A12S	A	-	1	0	CYSLTR1	77415866	0.000000	0.05858	0.723000	0.30687	0.389000	0.30415	0.372000	0.20467	0.543000	0.28864	0.456000	0.33151	GCC		0.378	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			4	73	1	0	0.00909568	1	0.00935556	4	73				
S100Z	170591	broad.mit.edu	37	5	76171233	76171233	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:76171233C>T	ENST00000317593.4	+	3	281	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	17	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TAGAATCTTCCACCGCTATTC	0.552																																						ENST00000317593.4																			0				large_intestine(1)|ovary(1)	2						c.(49-51)Cac>Tac		S100 calcium binding protein Z							64.0	67.0	66.0					5																	76171233		1969	4156	6125	SO:0001583	missense	170591						calcium ion binding	g.chr5:76171233C>T	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.49C>T	5.37:g.76171233C>T	ENSP00000320430:p.His17Tyr					S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	3	281	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	17			EF-hand 1.			Missense_Mutation	SNP	ENST00000317593.4	37	c.49C>T	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593945	0.28445	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.16743	2.32;2.32	5.69	4.82	0.62117	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.096386	0.64402	D	0.000001	T	0.19525	0.0469	.	.	.	0.41768	D	0.989754	B	0.18863	0.031	B	0.30316	0.114	T	0.02893	-1.1097	9	0.48119	T	0.1	.	14.4293	0.67238	0.0:0.9282:0.0:0.0718	.	17	Q8WXG8	S100Z_HUMAN	Y	17	ENSP00000426768:H17Y;ENSP00000320430:H17Y	ENSP00000320430:H17Y	H	+	1	0	S100Z	76206989	1.000000	0.71417	0.992000	0.48379	0.080000	0.17528	2.924000	0.48876	1.400000	0.46741	0.655000	0.94253	CAC		0.552	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		3	30	0	0	0	1	0	3	30				
GAL3ST1	9514	broad.mit.edu	37	22	30951159	30951159	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr22:30951159G>A	ENST00000402321.1	-	3	1370	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	GAL3ST1_ENST00000338911.5_Silent_p.A351A|GAL3ST1_ENST00000401975.1_Silent_p.A351A|GAL3ST1_ENST00000443111.2_Silent_p.A351A|GAL3ST1_ENST00000402369.1_Silent_p.A351A|GAL3ST1_ENST00000406361.1_Silent_p.A351A|GAL3ST1_ENST00000406955.1_Silent_p.A351A			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	351					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGGCGTCCACGGCGTGGCCCC	0.706																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1051-1053)gcC>gcT		galactose-3-O-sulfotransferase 1							24.0	25.0	24.0					22																	30951159		2200	4295	6495	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951159G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1053C>T	22.37:g.30951159G>A						GAL3ST1_ENST00000406955.1_Silent_p.A351A|GAL3ST1_ENST00000401975.1_Silent_p.A351A|GAL3ST1_ENST00000443111.2_Silent_p.A351A|GAL3ST1_ENST00000338911.5_Silent_p.A351A|GAL3ST1_ENST00000402369.1_Silent_p.A351A|GAL3ST1_ENST00000406361.1_Silent_p.A351A	p.A351A			Q99999	G3ST1_HUMAN			3	1370	-			351					Q96C63	Silent	SNP	ENST00000402321.1	37	c.1053C>T	CCDS13879.1																																																																																				0.706	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	34	0	0	0	1	0	6	34				
ADCY10	55811	broad.mit.edu	37	1	167871270	167871270	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:167871270G>A	ENST00000367851.4	-	4	460	c.276C>T	c.(274-276)gaC>gaT	p.D92D	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	92	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTCAGGATGTCTCCTCCAA	0.393																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(274-276)gaC>gaT		adenylate cyclase 10 (soluble)							193.0	211.0	204.0					1																	167871270		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167871270G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.276C>T	1.37:g.167871270G>A						ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR	p.D92D	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			4	460	-			92			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.276C>T	CCDS1265.1																																																																																				0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		40	205	0	0	0	1	0	40	205				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	232	0	0	0	1	0	5	232				
MAMLD1	10046	broad.mit.edu	37	X	149642057	149642057	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:149642057G>A	ENST00000370401.2	+	5	2333	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V650M|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V675M|MAMLD1_ENST00000455522.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	675					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAGACGTGTCACCGTC	0.488																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(2023-2025)Gtg>Atg		mastermind-like domain containing 1							165.0	134.0	145.0					X																	149642057		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149642057G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2023G>A	X.37:g.149642057G>A	ENSP00000359428:p.Val675Met					MAMLD1_ENST00000426613.2_Missense_Mutation_p.V650M|MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V675M	p.V675M			Q13495	MAMD1_HUMAN			5	2333	+	Acute lymphoblastic leukemia(192;6.56e-05)		675					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.2023G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	4.384	0.070782	0.08436	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613	T;T;T	0.64438	-0.1;-0.1;-0.1	3.89	-6.84	0.01687	.	1.891640	0.03072	N	0.157346	T	0.45875	0.1364	L	0.51422	1.61	0.09310	N	1	B;B	0.32893	0.255;0.389	B;B	0.18871	0.016;0.023	T	0.28427	-1.0044	10	0.52906	T	0.07	.	2.8316	0.05502	0.5087:0.2235:0.1539:0.1139	.	650;675	Q13495-4;Q13495	.;MAMD1_HUMAN	M	547;675;675;650	ENSP00000359428:V675M;ENSP00000262858:V675M;ENSP00000397438:V650M	ENSP00000262858:V675M	V	+	1	0	MAMLD1	149392715	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.542000	0.02196	-2.307000	0.00653	-0.248000	0.11899	GTG		0.488	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		25	49	0	0	0	1	0	25	49				
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(82-84)tTa>tAa		cell division cycle 7							89.0	96.0	94.0					1																	91967356		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967356T>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.83T>A	1.37:g.91967356T>A	ENSP00000393139:p.Leu28*					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*	p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	342	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	28					D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.83T>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919905	0.73098	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	.	.	.	5.22	2.9	0.33743	.	1.340040	0.04577	N	0.394259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7639	5.0268	0.14389	0.0:0.1687:0.1674:0.6639	.	.	.	.	X	28	.	ENSP00000234626:L28X	L	+	2	0	CDC7	91739944	0.004000	0.15560	0.151000	0.22473	0.174000	0.22865	0.295000	0.19065	0.391000	0.25143	-0.346000	0.07831	TTA		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	104	0	0	0	1	0	4	104				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	49	0	0	0	1	0	6	49				
RALGAPA1	253959	broad.mit.edu	37	14	36064859	36064859	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr14:36064859T>C	ENST00000389698.3	-	36	6062	c.5672A>G	c.(5671-5673)gAt>gGt	p.D1891G	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1938G	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1891	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGAATCATCAGAATCAGA	0.338																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5812-5814)gAt>gGt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							141.0	140.0	140.0					14																	36064859		2202	4299	6501	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064859T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5672A>G	14.37:g.36064859T>C	ENSP00000374348:p.Asp1891Gly					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G	p.D1938G			Q6GYQ0	RGPA1_HUMAN			37	6203	-			1891			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5813A>G	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.196015|4.196015	0.78902|0.78902	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.96232|.	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999994|0.999994	D;D;B;P|.	0.89917|.	0.999;1.0;0.302;0.932|.	D;D;B;P|.	0.87578|.	0.998;0.992;0.234;0.782|.	T|T	0.61584|0.61584	-0.7033|-0.7033	10|5	0.72032|.	D|.	0.01|.	-18.6724|-18.6724	15.4425|15.4425	0.75195|0.75195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1938;1904;1891;1891|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	G|V	1891;1891;1891;1938;529;1904;1938|174	ENSP00000374348:D1891G;ENSP00000302647:D1891G;ENSP00000258840:D1938G;ENSP00000451133:D529G;ENSP00000371803:D1904G;ENSP00000451877:D1938G|.	ENSP00000258840:D1938G|.	D|M	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35134610|35134610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.997000|7.997000	0.88414|0.88414	2.100000|2.100000	0.63781|0.63781	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		20	104	0	0	0	1	0	20	104				
SLC25A51	92014	broad.mit.edu	37	9	37888547	37888547	+	Start_Codon_SNP	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr9:37888547T>C	ENST00000377716.2	-	3	744	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	1					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GAATCCATCATGCTGCTTAAG	0.348																																						ENST00000377716.2																			0											c.(1-3)Atg>Gtg		solute carrier family 25, member 51							93.0	95.0	94.0					9																	37888547		2203	4297	6500	SO:0001582	initiator_codon_variant	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888547T>C	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.1A>G	9.37:g.37888547T>C	ENSP00000366945:p.Met1Val					RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V	p.M1V			Q9H1U9	MCAR1_HUMAN			3	744	-			1						Translation_Start_Site	SNP	ENST00000377716.2	37	c.1A>G	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670185	0.29693	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.76186	-1.0;-1.0;-1.0	5.24	4.09	0.47781	.	0.221552	0.38326	N	0.001726	T	0.61236	0.2331	.	.	.	0.30522	N	0.768284	B	0.06786	0.001	B	0.06405	0.002	T	0.59553	-0.7433	9	0.39692	T	0.17	.	9.4723	0.38851	0.0:0.0871:0.0:0.9129	.	1	Q9H1U9	MCAR1_HUMAN	V	1	ENSP00000369964:M1V;ENSP00000366945:M1V;ENSP00000242275:M1V	ENSP00000242275:M1V	M	-	1	0	MCART1	37878547	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.983000	0.40648	1.982000	0.57802	0.482000	0.46254	ATG		0.348	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412	Missense_Mutation	26	90	0	0	0	1	0	26	90				
CYP2C9	1559	broad.mit.edu	37	10	96701990	96701990	+	Missense_Mutation	SNP	C	C	T	rs375805362		TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr10:96701990C>T	ENST00000260682.6	+	3	385	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	125					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGAGATCCGGCGTTTCTCCCT	0.502																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(373-375)Cgt>Tgt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	C	CYS/ARG	2,4404		0,2,2201	125.0	117.0	120.0		373	2.4	0.1	10		120	0,8600		0,0,4300	no	missense	CYP2C9	NM_000771.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	125/491	96701990	2,13004	2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701990C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.373C>T	10.37:g.96701990C>T	ENSP00000260682:p.Arg125Cys					CYP2C9_ENST00000461906.1_3'UTR	p.R125C	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	385	+		Colorectal(252;0.0902)	125					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.373C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.50	3.406107	0.62288	4.54E-4	0.0	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.15952	2.38	3.34	2.36	0.29203	.	0.000000	0.64402	U	0.000003	T	0.49779	0.1577	H	0.96720	3.87	0.50632	D	0.999884	D;D;D	0.56521	0.964;0.964;0.976	P;P;D	0.64506	0.857;0.857;0.926	T	0.59542	-0.7435	10	0.87932	D	0	.	9.3002	0.37840	0.217:0.783:0.0:0.0	.	125;125;125	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	C	125	ENSP00000260682:R125C	ENSP00000260682:R125C	R	+	1	0	CYP2C9	96691980	0.517000	0.26226	0.122000	0.21767	0.777000	0.43975	1.035000	0.30216	0.641000	0.30601	0.484000	0.47621	CGT		0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		22	123	0	0	0	1	0	22	123				
DHX30	22907	broad.mit.edu	37	3	47889987	47889987	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr3:47889987A>T	ENST00000445061.1	+	16	2929	c.2522A>T	c.(2521-2523)gAc>gTc	p.D841V	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000446256.2_Missense_Mutation_p.D802V|DHX30_ENST00000348968.4_Missense_Mutation_p.D813V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	841						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGCTGTGGACAGTCCAAAC	0.657																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2404-2406)gAc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 30							104.0	106.0	106.0					3																	47889987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889987A>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2522A>T	3.37:g.47889987A>T	ENSP00000405620:p.Asp841Val					DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V	p.D802V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	17	2977	+			841			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2405A>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604906	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.21	4.06	0.47325	.	0.154399	0.56097	D	0.000028	T	0.22437	0.0541	M	0.94021	3.485	0.80722	D	1	P;P	0.48294	0.779;0.908	B;P	0.56823	0.299;0.807	T	0.01977	-1.1236	10	0.87932	D	0	.	9.6665	0.39988	0.9186:0.0:0.0814:0.0	.	841;802	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	802;841;813;869	ENSP00000392601:D802V;ENSP00000405620:D841V;ENSP00000343442:D813V;ENSP00000394682:D869V	ENSP00000343442:D813V	D	+	2	0	DHX30	47864991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.915000	0.75770	1.962000	0.57031	0.533000	0.62120	GAC		0.657	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		18	95	0	0	0	1	0	18	95				
PCDHA6	56142	broad.mit.edu	37	5	140207846	140207846	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:140207846C>T	ENST00000529310.1	+	1	284	c.170C>T	c.(169-171)gCg>gTg	p.A57V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A57V|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	57	Cadherin 1. {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)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCTGGCGGAGCTGGTG	0.617																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(169-171)gCg>gTg									57.0	69.0	65.0					5																	140207846		2203	4300	6503	SO:0001583	missense	0							g.chr5:140207846C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.170C>T	5.37:g.140207846C>T	ENSP00000433378:p.Ala57Val					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A57V|PCDHA4_ENST00000512229.2_Intron	p.A57V	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	284	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.170C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	7.308	0.614444	0.14129	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.38722	1.12;1.12	3.87	0.714	0.18180	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.479872	0.14799	U	0.297775	T	0.33527	0.0866	L	0.55481	1.735	0.09310	N	1	B;P;P	0.41597	0.019;0.486;0.756	B;B;B	0.39258	0.006;0.135;0.295	T	0.15178	-1.0446	10	0.48119	T	0.1	.	6.2636	0.20913	0.3942:0.3396:0.2662:0.0	.	57;57;57	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	V	57	ENSP00000433378:A57V;ENSP00000434113:A57V	ENSP00000434113:A57V	A	+	2	0	PCDHA6	140188030	0.000000	0.05858	0.995000	0.50966	0.217000	0.24651	-1.974000	0.01499	0.372000	0.24591	-0.823000	0.03104	GCG		0.617	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		6	104	0	0	0	1	0	6	104				
TRPM7	54822	broad.mit.edu	37	15	50920444	50920444	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr15:50920444T>C	ENST00000313478.7	-	11	1488	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	403					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATGCATTAGTACCTAATCGA	0.353																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1207-1209)Act>Gct		transient receptor potential cation channel, subfamily M, member 7							88.0	80.0	82.0					15																	50920444		1833	4078	5911	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50920444T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1207A>G	15.37:g.50920444T>C	ENSP00000320239:p.Thr403Ala					TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	11	1488	-			403					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1207A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548463	0.65311	.	.	ENSG00000092439	ENST00000313478	T	0.26660	1.72	5.34	5.34	0.76211	.	0.047674	0.85682	D	0.000000	T	0.28928	0.0718	L	0.52364	1.645	0.80722	D	1	P	0.47762	0.9	B	0.44224	0.444	T	0.02226	-1.1192	10	0.32370	T	0.25	-19.6386	15.4845	0.75555	0.0:0.0:0.0:1.0	.	403	Q96QT4	TRPM7_HUMAN	A	403	ENSP00000320239:T403A	ENSP00000320239:T403A	T	-	1	0	TRPM7	48707736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.841000	0.86834	2.240000	0.73641	0.533000	0.62120	ACT		0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		19	123	0	0	0	1	0	19	123				
KCNC4	3749	broad.mit.edu	37	1	110768696	110768696	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:110768696G>A	ENST00000369787.3	+	3	1742	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	KCNC4_ENST00000438661.2_Missense_Mutation_p.R572Q|KCNC4_ENST00000413138.3_Missense_Mutation_p.R572Q|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	572					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGCGCCGGGCCCTGCGA	0.647																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1714-1716)cGg>cAg		potassium voltage-gated channel, Shaw-related subfamily, member 4							53.0	59.0	57.0					1																	110768696		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768696G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1715G>A	1.37:g.110768696G>A	ENSP00000358802:p.Arg572Gln					KCNC4_ENST00000413138.3_Missense_Mutation_p.R572Q|KCNC4_ENST00000438661.2_Missense_Mutation_p.R572Q|KCNC4_ENST00000412512.2_Intron	p.R572Q	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1742	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	572					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1715G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859885	0.71834	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97114	-4.25;-4.25;-4.25	5.19	4.28	0.50868	.	0.117396	0.64402	N	0.000016	D	0.88771	0.6527	L	0.27053	0.805	0.41861	D	0.990222	B;B	0.28584	0.138;0.216	B;B	0.15870	0.006;0.014	D	0.86248	0.1647	10	0.27785	T	0.31	.	13.4337	0.61071	0.0762:0.0:0.9238:0.0	.	572;572	Q03721;Q03721-3	KCNC4_HUMAN;.	Q	572	ENSP00000358802:R572Q;ENSP00000388029:R572Q;ENSP00000393655:R572Q	ENSP00000358802:R572Q	R	+	2	0	KCNC4	110570219	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.418000	0.66429	1.185000	0.42971	0.462000	0.41574	CGG		0.647	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		6	50	0	0	0	1	0	6	50				
TCERG1	10915	broad.mit.edu	37	5	145843226	145843226	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:145843226G>A	ENST00000296702.5	+	5	1043	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	TCERG1_ENST00000394421.2_Silent_p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	335	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCAGCCGCACCCTCAGA	0.517																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1003-1005)ccG>ccA		transcription elongation regulator 1							257.0	218.0	231.0					5																	145843226		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843226G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1005G>A	5.37:g.145843226G>A						TCERG1_ENST00000394421.2_Silent_p.P335P	p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1043	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	335			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1005G>A	CCDS4282.1																																																																																				0.517	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	131	0	0	0	1	0	4	131				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	50	0	0	0	1	0	5	50				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	62	0	0	0	1	0	4	62				
ADTRP	84830	broad.mit.edu	37	6	11714718	11714718	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:11714718C>T	ENST00000414691.3	-	6	1096	c.686G>A	c.(685-687)aGg>aAg	p.R229K	ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CAATTACTTCCTCTTCTTCCG	0.428																																						ENST00000414691.3																			0											c.(685-687)aGg>aAg		androgen-dependent TFPI-regulating protein							151.0	144.0	146.0					6																	11714718		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11714718C>T	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.686G>A	6.37:g.11714718C>T	ENSP00000404416:p.Arg229Lys					ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	p.R229K	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			6	1096	-			229					B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.686G>A	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	4.698	0.129828	0.08981	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	T;T	0.28895	1.59;1.59	5.63	-0.821	0.10822	.	.	.	.	.	T	0.02304	0.0071	N	0.03948	-0.315	0.58432	D	0.999998	B;B	0.19583	0.037;0.002	B;B	0.18561	0.022;0.003	T	0.44636	-0.9315	9	0.02654	T	1	.	3.0657	0.06213	0.3062:0.3093:0.0:0.3846	.	247;229	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	K	229;247	ENSP00000404416:R229K;ENSP00000229583:R247K	ENSP00000229583:R247K	R	-	2	0	C6orf105	11822704	0.039000	0.19947	0.775000	0.31657	0.619000	0.37552	-0.128000	0.10531	-0.376000	0.07943	0.655000	0.94253	AGG		0.428	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		3	63	0	0	0	1	0	3	63				
MUC5B	727897	broad.mit.edu	37	11	1269662	1269662	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr11:1269662C>T	ENST00000529681.1	+	31	11610	c.11552C>T	c.(11551-11553)gCc>gTc	p.A3851V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A3854V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3851	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTCTGTGGCCACCCCCTCT	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11560-11562)gCc>gTc		mucin 5B, oligomeric mucus/gel-forming							115.0	133.0	127.0					11																	1269662		2071	4176	6247	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269662C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11552C>T	11.37:g.1269662C>T	ENSP00000436812:p.Ala3851Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.A3851V|RP11-532E4.2_ENST00000532061.2_RNA	p.A3854V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11619	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3851			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11561C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.343	-0.350618	0.05173	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19669	2.13;2.32	1.83	-3.66	0.04489	.	.	.	.	.	T	0.19725	0.0474	M	0.74258	2.255	0.09310	N	1	B;B	0.22346	0.068;0.03	B;B	0.12837	0.008;0.008	T	0.15954	-1.0419	9	0.87932	D	0	.	3.449	0.07491	0.1586:0.2781:0.4456:0.1176	.	4379;3854	A7Y9J9;E9PBJ0	.;.	V	3851;3854;3795;3756	ENSP00000436812:A3851V;ENSP00000415793:A3854V	ENSP00000343037:A3795V	A	+	2	0	MUC5B	1226238	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.216000	0.09266	-2.815000	0.00346	0.194000	0.17425	GCC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	93	0	0	0	1	0	4	93				
TCHH	7062	broad.mit.edu	37	1	152081869	152081869	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:152081869T>G	ENST00000368804.1	-	2	3823	c.3824A>C	c.(3823-3825)cAa>cCa	p.Q1275P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1275					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCGCTCTTGCTGTTCACC	0.557																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3823-3825)cAa>cCa		trichohyalin							91.0	92.0	92.0					1																	152081869		1999	4162	6161	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081869T>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3824A>C	1.37:g.152081869T>G	ENSP00000357794:p.Gln1275Pro						p.Q1275P	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3823	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1275					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3824A>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109279	0.20714	.	.	ENSG00000159450	ENST00000368804	T	0.05513	3.43	3.82	3.82	0.43975	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.49185	0.92	B	0.34242	0.178	T	0.48186	-0.9057	9	0.30078	T	0.28	.	10.5569	0.45123	0.0:0.0:0.0:1.0	.	1275	Q07283	TRHY_HUMAN	P	1275	ENSP00000357794:Q1275P	ENSP00000357794:Q1275P	Q	-	2	0	TCHH	150348493	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.492000	0.22435	1.385000	0.46445	0.372000	0.22366	CAA		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	74	0	0	0	1	0	4	74				
POSTN	10631	broad.mit.edu	37	13	38164595	38164595	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr13:38164595C>T	ENST00000379747.4	-	4	472	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	POSTN_ENST00000379742.4_Missense_Mutation_p.A119T|POSTN_ENST00000541481.1_Missense_Mutation_p.A119T|POSTN_ENST00000379743.4_Missense_Mutation_p.A119T|POSTN_ENST00000541179.1_Missense_Mutation_p.A119T|POSTN_ENST00000379749.4_Missense_Mutation_p.A119T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	119	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.A119T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGTTTTGAGGCGTCAGAATAG	0.453																																						ENST00000379747.4																			1	Substitution - Missense(1)	p.A119T(1)	large_intestine(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(355-357)Gcc>Acc		periostin, osteoblast specific factor							113.0	98.0	103.0					13																	38164595		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164595C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.355G>A	13.37:g.38164595C>T	ENSP00000369071:p.Ala119Thr					POSTN_ENST00000541179.1_Missense_Mutation_p.A119T|POSTN_ENST00000379742.4_Missense_Mutation_p.A119T|POSTN_ENST00000541481.1_Missense_Mutation_p.A119T|POSTN_ENST00000379743.4_Missense_Mutation_p.A119T|POSTN_ENST00000379749.4_Missense_Mutation_p.A119T	p.A119T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	472	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	119			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.355G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308940	0.23821	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.36	4.5	0.54988	FAS1 domain (4);	0.286888	0.37577	N	0.002026	D	0.86389	0.5921	M	0.81112	2.525	0.24986	N	0.99157	B;B;B;B;B;B;B	0.33318	0.408;0.236;0.018;0.236;0.355;0.014;0.018	B;B;B;B;B;B;B	0.27608	0.081;0.049;0.01;0.049;0.049;0.006;0.01	T	0.73126	-0.4081	10	0.13470	T	0.59	.	4.7453	0.13035	0.0:0.6147:0.1959:0.1894	.	119;119;119;119;119;119;119	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	119;119;119;119;119;119;36	ENSP00000437959:A119T;ENSP00000369073:A119T;ENSP00000369071:A119T;ENSP00000369067:A119T;ENSP00000369066:A119T;ENSP00000437953:A119T	ENSP00000369066:A119T	A	-	1	0	POSTN	37062595	1.000000	0.71417	0.986000	0.45419	0.735000	0.41995	2.426000	0.44731	1.224000	0.43551	0.650000	0.86243	GCC		0.453	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		6	19	0	0	0	1	0	6	19				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	256						7	256	---	---	---	---
OR2T7	81458	broad.mit.edu	37	1	248604929	248604930	+	Frame_Shift_Ins	INS	-	-	G	rs548202702	byFrequency	TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:248604929_248604930insG	ENST00000460972.3	+	1	422_423	c.422_423insG	c.(421-426)ctgggafs	p.LG141fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GCAGCCTGGCTGGGAGGGTCTA	0.579													|||unknown(NO_COVERAGE)	28	0.00559105	0.0197	0.0	5008	,	,		18388	0.0		0.002	False		,,,				2504	0.0					ENST00000460972.3																			0											c.(421-423)cggfs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604929_248604930insG			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.425dupG	1.37:g.248604932_248604932dupG	ENSP00000475521:p.Leu141fs						p.R141fs							1	422_423	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.422_423insG																																																																																					0.579	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			4	7						4	7	---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	17					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773																																						ENST00000233948.3																			1	Deletion - In frame(1)	p.L17delL(1)	central_nervous_system(1)	large_intestine(1)|ovary(2)|skin(1)	4						c.(28-33)ggg>gg		wingless-type MMTV integration site family, member 6				68,3608		1,66,1771						1.6	0.4			5	195,7107		11,173,3467	no	coding	WNT6	NM_006522.3		12,239,5238	A1A1,A1R,RR		2.6705,1.8498,2.3957				263,10715				SO:0001651	inframe_deletion	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219724790_219724792delGCT	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.30_32delGCT	2.37:g.219724799_219724801delGCT	ENSP00000233948:p.Leu17del					WNT6_ENST00000486233.1_3'UTR	p.GL10del	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	247_249	+		Renal(207;0.0474)	10					Q9H1J6|Q9H238	In_Frame_Del	DEL	ENST00000233948.3	37	c.30_32delGCT	CCDS2425.1																																																																																				0.773	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		2	4						2	4	---	---	---	---
MXD4	10608	broad.mit.edu	37	4	2263671	2263671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr4:2263671delC	ENST00000337190.2	-	1	350	c.37delG	c.(37-39)gccfs	p.A13fs	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	13	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGGTACTCGGCCGCCTCCAGC	0.801																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(37-39)ccfs		MAX dimerization protein 4							5.0	6.0	6.0					4																	2263671		1637	3171	4808	SO:0001589	frameshift_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2263671delC		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.37delG	4.37:g.2263671delC	ENSP00000337889:p.Ala13fs					MXD4_ENST00000515378.1_5'UTR	p.A13fs	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			1	350	-			13			Interaction with SIN3A and SIN3B (By similarity).		A2A335|Q5TZX4	Frame_Shift_Del	DEL	ENST00000337190.2	37	c.37delG	CCDS3361.1																																																																																				0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		2	4						2	4	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-	rs541688197	byFrequency	TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2230-2235)cag>ca		sine oculis binding protein homolog (Drosophila)																																				SO:0001651	inframe_deletion	55084						metal ion binding	g.chr6:107956280_107956282delGCC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2232_2234delGCC	6.37:g.107956289_107956291delGCC	ENSP00000318900:p.Pro751del					SOBP_ENST00000494935.1_3'UTR	p.QP744del	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2891_2893	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	744			Pro-rich.			In_Frame_Del	DEL	ENST00000317357.5	37	c.2232_2234delGCC	CCDS43488.1																																																																																				0.749	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		3	4						3	4	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr17:7798765delC	ENST00000330494.7	+	10	1762	c.1612delC	c.(1612-1614)cccfs	p.P539fs	CHD3_ENST00000380358.4_Frame_Shift_Del_p.P598fs|CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	539	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				AGATGTCCCACCCCCCCGTCC	0.577																																						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.(1789-1791)ccfs		chromodomain helicase DNA binding protein 3							130.0	103.0	112.0					17																	7798765		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7798765delC	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.1612delC	17.37:g.7798765delC	ENSP00000332628:p.Pro539fs					CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000330494.7_Frame_Shift_Del_p.P539fs	p.P598fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1790	+		Prostate(122;0.202)	539					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Del	DEL	ENST00000330494.7	37	c.1789delC	CCDS32554.1																																																																																				0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		15	60						15	60	---	---	---	---
