#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GJB3	2707	broad.mit.edu	37	1	35250490	35250490	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:35250490G>A	ENST00000373366.2	+	2	742	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.V43M	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	43					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCAGAGCGCGTGTGGGGGGA	0.592																																						uc001bxx.2		NA																	0					0						c.(127-129)GTG>ATG		connexin 31							175.0	128.0	143.0					1																	35250490		2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250490G>A	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.127G>A	1.37:g.35250490G>A	ENSP00000362464:p.Val43Met					GJB3_uc001bxy.2_Missense_Mutation_p.V43M|GJB3_uc001bxz.3_Missense_Mutation_p.V43M|uc010ohs.1_RNA	p.V43M	NM_024009	NP_076872	O75712	CXB3_HUMAN			2	742	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	43			Extracellular (Potential).		B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.127G>A	CCDS384.1	.	.	.	.	.	.	.	.	.	.	g	16.01	3.002495	0.54254	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99399	-5.83;-5.83	5.85	4.94	0.65067	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	M	0.91354	3.2	0.58432	D	0.999996	D	0.89917	1.0	D	0.72982	0.979	D	0.97925	1.0317	10	0.87932	D	0	.	14.6834	0.69033	0.0701:0.0:0.9299:0.0	.	43	O75712	CXB3_HUMAN	M	43	ENSP00000362464:V43M;ENSP00000362460:V43M	ENSP00000362460:V43M	V	+	1	0	GJB3	35023077	1.000000	0.71417	0.989000	0.46669	0.022000	0.10575	9.807000	0.99171	1.486000	0.48398	-0.258000	0.10820	GTG		0.592	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		5	18	0	0	0	0	5	18				
SLC5A9	200010	broad.mit.edu	37	1	48701511	48701511	+	Missense_Mutation	SNP	C	C	T	rs377226169		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:48701511C>T	ENST00000438567.2	+	10	1304	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	SLC5A9_ENST00000236495.5_Missense_Mutation_p.R443C|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R439C	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	418					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCAGCGCTTCCGCAGGAAGTC	0.617																																						uc001cro.2		NA																	0				ovary(3)	3						c.(1252-1254)CGC>TGC		solute carrier family 5 (sodium/glucose							112.0	89.0	97.0					1																	48701511		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48701511C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1252C>T	1.37:g.48701511C>T	ENSP00000401730:p.Arg418Cys					SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R443C|SLC5A9_uc010omt.1_Missense_Mutation_p.R432C|SLC5A9_uc001crp.2_Missense_Mutation_p.R85C|SLC5A9_uc010omu.1_Missense_Mutation_p.R85C	p.R418C	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			10	1304	+			418			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1252C>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040120	0.75732	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.89343	-2.5;-2.5;-2.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96785	0.9578	10	0.87932	D	0	.	18.8628	0.92280	0.0:1.0:0.0:0.0	.	439;418;443	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	C	439;418;443	ENSP00000431900:R439C;ENSP00000401730:R418C;ENSP00000236495:R443C	ENSP00000236495:R443C	R	+	1	0	SLC5A9	48474098	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	2.466000	0.45084	2.709000	0.92574	0.655000	0.94253	CGC		0.617	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		15	23	0	0	0	0	15	23				
PDE4B	5142	broad.mit.edu	37	1	66838038	66838038	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:66838038T>C	ENST00000329654.4	+	17	2075	c.1888T>C	c.(1888-1890)Tgg>Cgg	p.W630R	PDE4B_ENST00000423207.2_Missense_Mutation_p.W615R|PDE4B_ENST00000371049.3_Missense_Mutation_p.W630R|PDE4B_ENST00000480109.2_Missense_Mutation_p.W397R|PDE4B_ENST00000371045.5_Missense_Mutation_p.W458R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	630					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GTGGGAGACATGGGCAGATTT	0.433																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1888-1890)TGG>CGG		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						147.0	143.0	144.0					1																	66838038		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66838038T>C	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1888T>C	1.37:g.66838038T>C	ENSP00000332116:p.Trp630Arg					PDE4B_uc009war.2_Missense_Mutation_p.W538R|PDE4B_uc001dco.2_Missense_Mutation_p.W630R|PDE4B_uc001dcp.2_Missense_Mutation_p.W615R|PDE4B_uc001dcq.2_Missense_Mutation_p.W458R|PDE4B_uc009was.2_Missense_Mutation_p.W397R	p.W630R	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			17	2079	+			630					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1888T>C	CCDS632.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037715	0.75617	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.05	5.05	0.67936	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93199	0.6590	10	0.87932	D	0	.	14.9065	0.70724	0.0:0.0:0.0:1.0	.	397;615;500;620;630	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	R	630;630;630;615;458;397	ENSP00000332116:W630R;ENSP00000342637:W630R;ENSP00000360088:W630R;ENSP00000392947:W615R;ENSP00000360084:W458R;ENSP00000432592:W397R	ENSP00000332116:W630R	W	+	1	0	PDE4B	66610626	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.776000	0.85560	2.244000	0.73946	0.533000	0.62120	TGG		0.433	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		30	45	0	0	0	0	30	45				
WDR63	126820	broad.mit.edu	37	1	85564339	85564339	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:85564339G>A	ENST00000294664.6	+	13	1657	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	WDR63_ENST00000370596.1_Missense_Mutation_p.E454K|WDR63_ENST00000326813.8_Missense_Mutation_p.E454K	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	493										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGACACATTTGAGGTGAGACT	0.328																																						uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1477-1479)GAG>AAG		WD repeat domain 63							108.0	110.0	109.0					1																	85564339		2203	4298	6501	SO:0001583	missense	126820							g.chr1:85564339G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1477G>A	1.37:g.85564339G>A	ENSP00000294664:p.Glu493Lys					WDR63_uc009wcl.2_Missense_Mutation_p.E454K	p.E493K	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	13	1668	+			493			WD 2.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1477G>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732404	0.69189	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.62639	0.01;0.01;0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.140702	0.64402	D	0.000006	T	0.73489	0.3593	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.89917	0.998;1.0	D;D	0.75484	0.94;0.986	T	0.71626	-0.4536	10	0.51188	T	0.08	-30.019	19.9318	0.97122	0.0:0.0:1.0:0.0	.	454;493	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	K	454;454;493	ENSP00000359628:E454K;ENSP00000317463:E454K;ENSP00000294664:E493K	ENSP00000294664:E493K	E	+	1	0	WDR63	85336927	1.000000	0.71417	0.999000	0.59377	0.059000	0.15707	6.189000	0.72051	2.807000	0.96579	0.650000	0.86243	GAG		0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		32	46	0	0	0	0	32	46				
AGL	178	broad.mit.edu	37	1	100347238	100347238	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:100347238T>C	ENST00000294724.4	+	17	2777	c.2299T>C	c.(2299-2301)Tgc>Cgc	p.C767R	AGL_ENST00000370161.2_Missense_Mutation_p.C751R|AGL_ENST00000361522.4_Missense_Mutation_p.C750R|AGL_ENST00000370165.3_Missense_Mutation_p.C767R|AGL_ENST00000370163.3_Missense_Mutation_p.C767R|AGL_ENST00000361302.3_Missense_Mutation_p.C751R|AGL_ENST00000361915.3_Missense_Mutation_p.C767R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	767					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCTCAAATGTGCATCCCTGG	0.328																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2299-2301)TGC>CGC		amylo-1,6-glucosidase,							106.0	100.0	102.0					1																	100347238		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100347238T>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2299T>C	1.37:g.100347238T>C	ENSP00000294724:p.Cys767Arg					AGL_uc001dsj.1_Missense_Mutation_p.C767R|AGL_uc001dsk.1_Missense_Mutation_p.C767R|AGL_uc001dsl.1_Missense_Mutation_p.C767R|AGL_uc001dsm.1_Missense_Mutation_p.C751R|AGL_uc001dsn.1_Missense_Mutation_p.C750R	p.C767R	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	17	2699	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	767			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2299T>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620276	0.28801	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.86	5.86	0.93980	.	0.090982	0.85682	D	0.000000	T	0.11153	0.0272	N	0.21373	0.66	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.08106	-1.0738	10	0.25106	T	0.35	.	15.1308	0.72520	0.0:0.0:0.0:1.0	.	750;751;767	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	767;767;767;767;751;751;750	ENSP00000355106:C767R;ENSP00000359184:C767R;ENSP00000359182:C767R;ENSP00000294724:C767R;ENSP00000354971:C751R;ENSP00000359180:C751R;ENSP00000354635:C750R	ENSP00000294724:C767R	C	+	1	0	AGL	100119826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.378000	0.79679	2.367000	0.80283	0.528000	0.53228	TGC		0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		25	53	0	0	0	0	25	53				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	27	0	0	0	0	3	27				
SEMA4A	64218	broad.mit.edu	37	1	156130751	156130751	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156130751C>T	ENST00000368285.3	+	8	1008	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.F115F|SEMA4A_ENST00000368284.1_Silent_p.F115F|SEMA4A_ENST00000368282.1_Silent_p.F247F|SEMA4A_ENST00000355014.2_Silent_p.F247F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	247	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACTTCTTCTTCGAGGAGACAG	0.632																																						uc001fnl.2		NA																	0				ovary(1)|skin(1)	2						c.(739-741)TTC>TTT		semaphorin B precursor							110.0	118.0	115.0					1																	156130751		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156130751C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.741C>T	1.37:g.156130751C>T						SEMA4A_uc009wrq.2_Silent_p.F247F|SEMA4A_uc001fnm.2_Silent_p.F247F|SEMA4A_uc001fnn.2_Silent_p.F115F|SEMA4A_uc001fno.2_Silent_p.F247F	p.F247F	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			8	845	+	Hepatocellular(266;0.158)		247			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.741C>T	CCDS1132.1																																																																																				0.632	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		54	156	0	0	0	0	54	156				
BCAN	63827	broad.mit.edu	37	1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156622478G>A	ENST00000329117.5	+	8	2072	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1735-1737)CGA>CAA		brevican isoform 1							57.0	60.0	59.0					1																	156622478		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622478G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1736G>A	1.37:g.156622478G>A	ENSP00000331210:p.Arg579Gln					BCAN_uc001fpo.2_Missense_Mutation_p.R579Q	p.R579Q	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2072	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		579					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1736G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306035	0.40795	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.13657	2.57;3.27	3.92	0.701	0.18104	.	0.615996	0.12995	N	0.422121	T	0.02230	0.0069	N	0.24115	0.695	0.26503	N	0.974744	B;B	0.24132	0.07;0.098	B;B	0.12837	0.003;0.008	T	0.44892	-0.9298	10	0.32370	T	0.25	-1.7595	5.2581	0.15558	0.4051:0.0:0.5949:0.0	.	579;579	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	579	ENSP00000331210:R579Q;ENSP00000354925:R579Q	ENSP00000331210:R579Q	R	+	2	0	BCAN	154889102	0.599000	0.26891	1.000000	0.80357	0.975000	0.68041	0.460000	0.21924	0.336000	0.23639	0.455000	0.32223	CGA		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		18	30	0	0	0	0	18	30				
OR10X1	128367	broad.mit.edu	37	1	158549198	158549198	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:158549198A>C	ENST00000368150.1	-	1	491	c.492T>G	c.(490-492)gcT>gcG	p.A164A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463																																						uc010pin.1		NA																	0				ovary(1)	1						c.(490-492)GCT>GCG		olfactory receptor, family 10, subfamily X,							54.0	56.0	55.0					1																	158549198		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549198A>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.492T>G	1.37:g.158549198A>C							p.A164A	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	492	-	all_hematologic(112;0.0378)		164			Helical; Name=4; (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.492T>G	CCDS30900.1																																																																																				0.463	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		11	35	0	0	0	0	11	35				
ACTN2	88	broad.mit.edu	37	1	236912510	236912510	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:236912510C>T	ENST00000366578.4	+	14	1768	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	ACTN2_ENST00000542672.1_Silent_p.G534G|ACTN2_ENST00000546208.1_Silent_p.G28G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	534					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGATGGAGGGCGCTATGGAGG	0.443																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1600-1602)GGC>GGT		actinin, alpha 2							118.0	108.0	111.0					1																	236912510		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236912510C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1602C>T	1.37:g.236912510C>T						ACTN2_uc001hyg.2_Silent_p.G326G|ACTN2_uc009xgi.1_Silent_p.G534G|ACTN2_uc010pxu.1_Silent_p.G223G|ACTN2_uc001hyh.2_Silent_p.G222G	p.G534G	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		14	1806	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	534			Spectrin 3.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1602C>T	CCDS1613.1																																																																																				0.443	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		9	48	0	0	0	0	9	48				
C10orf10	11067	broad.mit.edu	37	10	45473220	45473220	+	Missense_Mutation	SNP	C	C	T	rs188702994	byFrequency	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:45473220C>T	ENST00000298295.3	-	2	476	c.259G>A	c.(259-261)Gca>Aca	p.A87T	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	87						mitochondrion (GO:0005739)				lung(1)	1						CTGAAACGTGCGGTGATGTCT	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17045	0.0		0.001	False		,,,				2504	0.0					uc001jbr.3		NA																	0					0						c.(259-261)GCA>ACA		fasting-induced protein							41.0	44.0	43.0					10																	45473220		2203	4299	6502	SO:0001583	missense	11067					mitochondrion		g.chr10:45473220C>T	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.259G>A	10.37:g.45473220C>T	ENSP00000298295:p.Ala87Thr					RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	p.A87T	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN			2	549	-			87					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.259G>A	CCDS7210.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	12.64	1.999139	0.35226	.	.	ENSG00000165507	ENST00000298295	T	0.45668	0.89	5.48	-4.09	0.03951	.	1.551300	0.04072	N	0.308207	T	0.14485	0.0350	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12528	-1.0544	10	0.09084	T	0.74	-0.9981	2.9543	0.05871	0.1125:0.4777:0.1588:0.251	.	87	Q9NTK1	DEPP_HUMAN	T	87	ENSP00000298295:A87T	ENSP00000298295:A87T	A	-	1	0	C10orf10	44793226	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-0.639000	0.05446	-0.867000	0.04063	-0.123000	0.14984	GCA		0.667	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		12	28	0	0	0	0	12	28				
TACC2	10579	broad.mit.edu	37	10	123970459	123970459	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:123970459G>A	ENST00000369005.1	+	9	6859	c.6519G>A	c.(6517-6519)acG>acA	p.T2173T	TACC2_ENST00000453444.2_Silent_p.T2177T|TACC2_ENST00000334433.3_Silent_p.T2173T|TACC2_ENST00000360561.3_Silent_p.T251T|TACC2_ENST00000358010.1_Silent_p.T319T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Silent_p.T251T|TACC2_ENST00000260733.3_Silent_p.T251T|TACC2_ENST00000368999.1_Silent_p.T251T|TACC2_ENST00000515603.1_Silent_p.T2128T|TACC2_ENST00000515273.1_Silent_p.T2177T|TACC2_ENST00000513429.1_Silent_p.T319T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2173					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGAGACGAAAACGGAAT	0.592																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(6517-6519)ACG>ACA		transforming, acidic coiled-coil containing							86.0	98.0	94.0					10																	123970459		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970459G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6519G>A	10.37:g.123970459G>A						TACC2_uc001lfw.2_Silent_p.T319T|TACC2_uc009xzx.2_Silent_p.T2128T|TACC2_uc010qtv.1_Silent_p.T2177T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.T251T|TACC2_uc001lga.2_Silent_p.T251T|TACC2_uc009xzy.2_Silent_p.T251T|TACC2_uc001lgb.2_Silent_p.T208T|TACC2_uc010qtw.1_Silent_p.T268T	p.T2173T	NM_206862	NP_996744	O95359	TACC2_HUMAN			9	6879	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2173					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6519G>A	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			36	63	0	0	0	0	36	63				
ANO5	203859	broad.mit.edu	37	11	22281076	22281076	+	Silent	SNP	C	C	T	rs201501021		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:22281076C>T	ENST00000324559.8	+	15	1736	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	473					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCTCTTGTCGTCACCAGTA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20828	0.0		0.001	False		,,,				2504	0.0					uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1417-1419)GTC>GTT		anoctamin 5 isoform a							184.0	160.0	168.0					11																	22281076		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281076C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1419C>T	11.37:g.22281076C>T						ANO5_uc001mqj.2_Silent_p.V472V	p.V473V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			15	1736	+			473			Helical; (Potential).			Silent	SNP	ENST00000324559.8	37	c.1419C>T	CCDS31444.1																																																																																				0.383	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		29	35	0	0	0	0	29	35				
BSCL2	26580	broad.mit.edu	37	11	62458817	62458817	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:62458817C>T	ENST00000403550.1	-	7	1171	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	BSCL2_ENST00000407022.3_Missense_Mutation_p.V250M|BSCL2_ENST00000360796.5_Missense_Mutation_p.V314M|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Missense_Mutation_p.V250M|BSCL2_ENST00000433053.1_Missense_Mutation_p.V314M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V314M|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	250					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTGAAGAGCACGATGACGCTG	0.562																																						uc001nuo.1		NA																	0					0						c.(748-750)GTG>ATG		seipin isoform 2							82.0	72.0	76.0					11																	62458817		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458817C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.748G>A	11.37:g.62458817C>T	ENSP00000385561:p.Val250Met					LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.V250M|BSCL2_uc001nuq.1_Missense_Mutation_p.V250M|BSCL2_uc001nur.3_Missense_Mutation_p.V314M|BSCL2_uc009yod.2_Missense_Mutation_p.V314M|BSCL2_uc001nut.3_Missense_Mutation_p.V314M|HNRNPUL2_uc001nuu.1_RNA	p.V250M	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			7	1172	-			250			Helical; (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.748G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986046	0.53934	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906	D;D;D;D;D;D	0.90004	-2.58;-2.6;-2.6;-2.58;-2.58;-2.58	5.27	3.35	0.38373	.	0.178290	0.35096	U	0.003448	D	0.83312	0.5227	L	0.34521	1.04	0.35077	D	0.763023	D;D;P	0.58268	0.969;0.982;0.934	B;P;B	0.45753	0.313;0.492;0.175	D	0.84531	0.0633	10	0.48119	T	0.1	-0.3825	8.8331	0.35096	0.0:0.765:0.1509:0.084	.	250;314;250	Q53EN3;G3XAE4;Q96G97	.;.;BSCL2_HUMAN	M	314;314;314;250;250;250	ENSP00000385332:V314M;ENSP00000414002:V314M;ENSP00000354032:V314M;ENSP00000385561:V250M;ENSP00000384080:V250M;ENSP00000413209:V250M	ENSP00000354032:V314M	V	-	1	0	BSCL2	62215393	0.735000	0.28153	1.000000	0.80357	0.996000	0.88848	1.022000	0.30052	0.575000	0.29434	0.561000	0.74099	GTG		0.562	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		14	27	0	0	0	0	14	27				
ATM	472	broad.mit.edu	37	11	108153603	108153603	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:108153603A>G	ENST00000452508.2	+	26	3932	c.3743A>G	c.(3742-3744)tAt>tGt	p.Y1248C	ATM_ENST00000278616.4_Missense_Mutation_p.Y1248C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1248					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGGATTTCTATAGGTAAGTT	0.294			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(3742-3744)TAT>TGT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							37.0	39.0	39.0					11																	108153603		2188	4284	6472	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108153603A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3743A>G	11.37:g.108153603A>G	ENSP00000388058:p.Tyr1248Cys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.Y1248C	p.Y1248C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	25	4128	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1248					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3743A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568935	0.45798	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72505	-0.66;-0.66;-0.66	5.09	5.09	0.68999	Armadillo-type fold (1);	0.061342	0.64402	D	0.000002	T	0.76608	0.4011	L	0.32530	0.975	0.47949	D	0.999556	D	0.89917	1.0	D	0.73380	0.98	T	0.78942	-0.2005	10	0.59425	D	0.04	.	14.8622	0.70389	1.0:0.0:0.0:0.0	.	1248	Q13315	ATM_HUMAN	C	1248	ENSP00000435747:Y1248C;ENSP00000278616:Y1248C;ENSP00000388058:Y1248C	ENSP00000278616:Y1248C	Y	+	2	0	ATM	107658813	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	4.958000	0.63660	1.923000	0.55706	0.482000	0.46254	TAT		0.294	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	8	0	0	0	0	3	8				
ADAMTS8	11095	broad.mit.edu	37	11	130275690	130275690	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:130275690G>A	ENST00000257359.6	-	9	3139	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	811	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAAAGTCCACGTCATTAGGAA	0.567																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(2431-2433)GAC>GAT		ADAM metallopeptidase with thrombospondin type 1							181.0	196.0	191.0					11																	130275690		2114	4260	6374	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275690G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2433C>T	11.37:g.130275690G>A						ADAMTS8_uc001qgf.2_Silent_p.D292D	p.D811D	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2791	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	811			Spacer.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2433C>T	CCDS41732.1																																																																																				0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		57	105	0	0	0	0	57	105				
SPSB2	84727	broad.mit.edu	37	12	6981424	6981424	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:6981424G>A	ENST00000524270.1	-	2	828	c.642C>T	c.(640-642)atC>atT	p.I214I	SPSB2_ENST00000519357.1_Silent_p.I214I|LRRC23_ENST00000433346.1_5'Flank|RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000523102.1_Silent_p.I214I	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	214	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGTAGCGGATGCGGACCT	0.617											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrl.2		NA																	0				kidney(1)	1						c.(640-642)ATC>ATT		splA/ryanodine receptor domain and SOCS box							96.0	105.0	102.0					12																	6981424		2203	4300	6503	SO:0001819	synonymous_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981424G>A	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.642C>T	12.37:g.6981424G>A			OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_uc001qrm.2_Silent_p.I214I|SPSB2_uc010sfp.1_Silent_p.I214I|LRRC23_uc001qrn.1_5'Flank	p.I214I	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN			2	798	-			214			B30.2/SPRY.		B7Z4W1|D3DUT0	Silent	SNP	ENST00000524270.1	37	c.642C>T	CCDS8567.1																																																																																				0.617	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		148	113	0	0	0	0	148	113				
RARG	5916	broad.mit.edu	37	12	53609209	53609209	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:53609209G>A	ENST00000425354.2	-	5	830	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.R93C|RARG_ENST00000327550.3_Missense_Mutation_p.R43C|RARG_ENST00000394426.1_Missense_Mutation_p.R115C|RARG_ENST00000338561.5_Missense_Mutation_p.R104C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	115					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R115C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGCTTCGGCGAAAGAAGCCC	0.552																																						uc001sce.2		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(2)|ovary(1)|lung(1)	4						c.(343-345)CGC>TGC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						147.0	118.0	127.0					12																	53609209		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609209G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.343C>T	12.37:g.53609209G>A	ENSP00000388510:p.Arg115Cys					RARG_uc001scd.2_Missense_Mutation_p.R104C|RARG_uc010sob.1_Missense_Mutation_p.R93C|RARG_uc001scf.2_Missense_Mutation_p.R115C|RARG_uc001scg.2_Missense_Mutation_p.R43C|RARG_uc010soc.1_5'UTR|RARG_uc010sod.1_Missense_Mutation_p.R152C	p.R115C	NM_000966	NP_000957	P13631	RARG_HUMAN			5	828	-			115			Nuclear receptor.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.343C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635884	0.67130	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.59	3.89	2.96	0.34315	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.987;0.999;0.996	D	0.99198	1.0872	10	0.87932	D	0	.	11.4999	0.50430	0.0:0.0:0.8118:0.1882	.	152;93;115;104	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	C	115;115;43;104;93;152	ENSP00000388510:R115C;ENSP00000377947:R115C;ENSP00000332695:R43C;ENSP00000343698:R104C;ENSP00000444335:R93C	ENSP00000332695:R43C	R	-	1	0	RARG	51895476	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.340000	0.65958	0.912000	0.36772	0.467000	0.42956	CGC		0.552	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		20	35	0	0	0	0	20	35				
DHX37	57647	broad.mit.edu	37	12	125441262	125441262	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:125441262G>A	ENST00000308736.2	-	18	2526	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	DHX37_ENST00000544745.1_Missense_Mutation_p.R597W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	810							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACAGCTCCCGCACCGTCATG	0.647																																						uc001ugy.2		NA																	0				skin(1)	1						c.(2428-2430)CGG>TGG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							64.0	57.0	59.0					12																	125441262		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125441262G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2428C>T	12.37:g.125441262G>A	ENSP00000311135:p.Arg810Trp						p.R810W	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	18	2527	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		810					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2428C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911774	0.72983	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.31769	1.48;1.48	5.12	5.12	0.69794	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64271	-0.6447	10	0.66056	D	0.02	-8.3423	12.8994	0.58117	0.0:0.0:0.7138:0.2862	.	810	Q8IY37	DHX37_HUMAN	W	810;597	ENSP00000311135:R810W;ENSP00000439009:R597W	ENSP00000311135:R810W	R	-	1	2	DHX37	124007215	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	3.889000	0.56212	2.386000	0.81285	0.462000	0.41574	CGG		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		19	35	0	0	0	0	19	35				
ZMYM5	9205	broad.mit.edu	37	13	20412924	20412924	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:20412924G>A	ENST00000337963.4	-	5	1052	c.788C>T	c.(787-789)tCa>tTa	p.S263L	ZMYM5_ENST00000382905.4_Missense_Mutation_p.S263L|ZMYM5_ENST00000382907.4_Intron	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	263						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGGTGAGCTGATCCTTTTCG	0.403																																						uc010tcn.1		NA																	0					0						c.(787-789)TCA>TTA		zinc finger protein 237 isoform 3							251.0	230.0	237.0					13																	20412924		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20412924G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.788C>T	13.37:g.20412924G>A	ENSP00000337034:p.Ser263Leu					ZMYM5_uc001umm.1_Missense_Mutation_p.S87L|ZMYM5_uc001umn.2_Missense_Mutation_p.S263L|ZMYM5_uc001umo.2_Intron	p.S263L	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	1053	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	263					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.881740	0.91740	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.44482	0.92;0.92;0.92	4.67	4.67	0.58626	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.99;0.998	T	0.63079	-0.6717	10	0.52906	T	0.07	-9.9029	18.1307	0.89600	0.0:0.0:1.0:0.0	.	263;263	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	L	263;253;263	ENSP00000337034:S263L;ENSP00000445779:S253L;ENSP00000372361:S263L	ENSP00000337034:S263L	S	-	2	0	ZMYM5	19310924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.187000	0.94912	2.585000	0.87301	0.555000	0.69702	TCA		0.403	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		51	83	0	0	0	0	51	83				
SCEL	8796	broad.mit.edu	37	13	78176794	78176794	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:78176794A>G	ENST00000349847.3	+	17	1067	c.983A>G	c.(982-984)cAa>cGa	p.Q328R	SCEL_ENST00000469982.1_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.Q306R|SCEL_ENST00000377246.3_Missense_Mutation_p.Q308R|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	328	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAAGAAGACAAAATCTCGAA	0.358																																						uc001vki.2		NA																	0				ovary(4)|breast(1)	5						c.(982-984)CAA>CGA		sciellin isoform 1							132.0	139.0	137.0					13																	78176794		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176794A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.983A>G	13.37:g.78176794A>G	ENSP00000302579:p.Gln328Arg					SCEL_uc001vkj.2_Missense_Mutation_p.Q308R|SCEL_uc010thx.1_Missense_Mutation_p.Q306R	p.Q328R	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	17	1153	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	328			16 X approximate tandem repeats.|5.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.983A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146194	0.37923	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24723	1.84;1.84;1.84	3.7	0.756	0.18421	.	0.534718	0.15714	N	0.248245	T	0.25938	0.0632	M	0.75777	2.31	0.23341	N	0.997878	B;B;B	0.14438	0.01;0.004;0.005	B;B;B	0.15484	0.009;0.009;0.013	T	0.29088	-1.0023	10	0.87932	D	0	-0.6049	5.7037	0.17897	0.7515:0.0:0.2485:0.0	.	306;308;328	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	R	306;308;328	ENSP00000437895:Q306R;ENSP00000366454:Q308R;ENSP00000302579:Q328R	ENSP00000302579:Q328R	Q	+	2	0	SCEL	77074795	0.429000	0.25530	0.930000	0.37139	0.403000	0.30841	0.113000	0.15499	0.026000	0.15269	0.533000	0.62120	CAA		0.358	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		21	54	0	0	0	0	21	54				
AKAP6	9472	broad.mit.edu	37	14	33292161	33292161	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:33292161G>A	ENST00000280979.4	+	13	5312	c.5142G>A	c.(5140-5142)tcG>tcA	p.S1714S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1714					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCGGAATCGAATGCATCGT	0.468																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5140-5142)TCG>TCA		A-kinase anchor protein 6							157.0	136.0	143.0					14																	33292161		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292161G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5142G>A	14.37:g.33292161G>A							p.S1714S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5312	+	Breast(36;0.0388)|Prostate(35;0.15)		1714					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.5142G>A	CCDS9644.1																																																																																				0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		24	51	0	0	0	0	24	51				
SPTBN5	51332	broad.mit.edu	37	15	42169045	42169045	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:42169045G>A	ENST00000320955.6	-	19	4040	c.3813C>T	c.(3811-3813)ggC>ggT	p.G1271G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1271					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTTCTCGCCGTGTGCCC	0.672																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3706-3708)GGC>GGT		spectrin, beta, non-erythrocytic 5							31.0	38.0	36.0					15																	42169045		2084	4217	6301	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42169045G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3813C>T	15.37:g.42169045G>A							p.G1236G	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	19	4041	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1271			Spectrin 9.			Silent	SNP	ENST00000320955.6	37	c.3708C>T																																																																																					0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	20	0	0	0	0	8	20				
TMEM62	80021	broad.mit.edu	37	15	43452910	43452910	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43452910A>G	ENST00000260403.2	+	10	1493	c.1214A>G	c.(1213-1215)cAc>cGc	p.H405R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	405						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTGTTCACCACATATTTTCT	0.318																																						uc001zqr.2		NA																	0				ovary(1)|breast(1)	2						c.(1213-1215)CAC>CGC		transmembrane protein 62							159.0	159.0	159.0					15																	43452910		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43452910A>G	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1214A>G	15.37:g.43452910A>G	ENSP00000260403:p.His405Arg					TMEM62_uc010bda.2_Missense_Mutation_p.H275R|TMEM62_uc001zqt.2_5'UTR	p.H405R	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	10	1493	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	405					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1214A>G	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141131	0.77775	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.67	5.67	0.87782	.	0.048204	0.85682	D	0.000000	T	0.60869	0.2302	L	0.43923	1.385	0.52501	D	0.999951	D	0.56287	0.975	P	0.51385	0.668	T	0.63028	-0.6728	9	0.52906	T	0.07	-9.8809	15.0854	0.72148	1.0:0.0:0.0:0.0	.	405	Q0P6H9	TMM62_HUMAN	R	405	.	ENSP00000260403:H405R	H	+	2	0	TMEM62	41240202	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.970000	0.76099	2.165000	0.68154	0.459000	0.35465	CAC		0.318	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		13	56	0	0	0	0	13	56				
CATSPER2	117155	broad.mit.edu	37	15	43931101	43931101	+	Splice_Site	SNP	C	C	T	rs199516208		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43931101C>T	ENST00000321596.5	-	7	1042		c.e7+1		CATSPER2_ENST00000355438.2_Splice_Site|RNU6-610P_ENST00000384264.1_RNA|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Splice_Site|CATSPER2_ENST00000396879.1_Splice_Site|CATSPER2_ENST00000354127.4_Splice_Site			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTTACGAGAAGAACA	0.463																																						uc001zsh.2		NA																	1	Unknown(1)		endometrium(1)	ovary(1)	1						c.e7+1		sperm-associated cation channel 2 isoform 2							79.0	72.0	74.0					15																	43931101		2199	4296	6495	SO:0001630	splice_region_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43931101C>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.842+1G>A	15.37:g.43931101C>T						CATSPER2_uc010bdm.2_Splice_Site|CATSPER2_uc001zsi.2_Splice_Site_p.S281_splice|CATSPER2_uc001zsj.2_Splice_Site_p.S281_splice	p.S281_splice	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1057	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)						Q8NHT9|Q96P54|Q96P55	Splice_Site	SNP	ENST00000321596.5	37	c.842_splice	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906744	0.33628	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1221	0.53897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CATSPER2	41718393	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	4.189000	0.58358	2.300000	0.77407	0.449000	0.29647	.		0.463	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	Intron	22	17	0	0	0	0	22	17				
MAPK6	5597	broad.mit.edu	37	15	52350913	52350913	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:52350913G>A	ENST00000261845.5	+	4	1591	c.784G>A	c.(784-786)Gta>Ata	p.V262I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCTTCTCAGCGTAATTCCAGT	0.408																																						uc002abp.2		NA																	0				lung(3)|ovary(1)	4						c.(784-786)GTA>ATA		mitogen-activated protein kinase 6							74.0	65.0	68.0					15																	52350913		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52350913G>A	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.784G>A	15.37:g.52350913G>A	ENSP00000261845:p.Val262Ile						p.V262I	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	4	1578	+			262			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.784G>A	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651320	0.88056	.	.	ENSG00000069956	ENST00000261845	T	0.42513	0.97	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	N	0.13043	0.29	0.80722	D	1	D	0.57899	0.981	D	0.66196	0.942	T	0.54084	-0.8346	10	0.51188	T	0.08	-10.6822	18.9667	0.92700	0.0:0.0:1.0:0.0	.	262	Q16659	MK06_HUMAN	I	262	ENSP00000261845:V262I	ENSP00000261845:V262I	V	+	1	0	MAPK6	50138205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.857000	0.99534	2.503000	0.84419	0.460000	0.39030	GTA		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		11	19	0	0	0	0	11	19				
DNAH3	55567	broad.mit.edu	37	16	20999297	20999297	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:20999297T>C	ENST00000261383.3	-	45	6691	c.6692A>G	c.(6691-6693)cAc>cGc	p.H2231R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2231	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCCCGAAGTGCCAGTCAAC	0.448																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6691-6693)CAC>CGC		dynein, axonemal, heavy chain 3							124.0	111.0	115.0					16																	20999297		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999297T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6692A>G	16.37:g.20999297T>C	ENSP00000261383:p.His2231Arg					DNAH3_uc010vbd.1_5'Flank	p.H2231R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	45	6692	-			2231			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6692A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796678	0.70567	.	.	ENSG00000158486	ENST00000261383	T	0.45668	0.89	5.09	5.09	0.68999	.	0.146062	0.43919	D	0.000511	T	0.65396	0.2687	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69420	-0.5150	10	0.56958	D	0.05	.	14.8626	0.70392	0.0:0.0:0.0:1.0	.	2231	Q8TD57	DYH3_HUMAN	R	2231	ENSP00000261383:H2231R	ENSP00000261383:H2231R	H	-	2	0	DNAH3	20906798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.505000	0.81655	1.915000	0.55452	0.477000	0.44152	CAC		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	33	0	0	0	0	9	33				
POLR3E	55718	broad.mit.edu	37	16	22324968	22324968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:22324968G>A	ENST00000299853.5	+	7	559	c.392G>A	c.(391-393)gGc>gAc	p.G131D	POLR3E_ENST00000418581.2_Missense_Mutation_p.G95D|POLR3E_ENST00000359210.4_Missense_Mutation_p.G131D|POLR3E_ENST00000564209.1_Missense_Mutation_p.G131D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	131					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCTTTACATGGCATCCTGCAG	0.612																																						uc002dkk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(391-393)GGC>GAC		RNA polymerase III polypeptide E							52.0	53.0	52.0					16																	22324968		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22324968G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.392G>A	16.37:g.22324968G>A	ENSP00000299853:p.Gly131Asp					POLR3E_uc002dkj.1_Missense_Mutation_p.G131D|POLR3E_uc002dkm.2_Missense_Mutation_p.G95D|POLR3E_uc010vbr.1_Missense_Mutation_p.G131D|POLR3E_uc002dkl.2_Missense_Mutation_p.G131D|POLR3E_uc010vbs.1_Missense_Mutation_p.G95D|POLR3E_uc010vbt.1_Missense_Mutation_p.G75D	p.G131D	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	7	548	+			131					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.392G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424890	0.96131	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.53206	0.63;0.63;0.63	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.987;0.999;0.998;0.997;0.998	T	0.69335	-0.5172	10	0.87932	D	0	-24.8636	17.6966	0.88283	0.0:0.0:1.0:0.0	.	75;95;131;131;131;131	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	D	131;131;95	ENSP00000299853:G131D;ENSP00000352140:G131D;ENSP00000399254:G95D	ENSP00000299853:G131D	G	+	2	0	POLR3E	22232469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.460000	0.83146	0.561000	0.74099	GGC		0.612	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		3	39	0	0	0	0	3	39				
CACNG3	10368	broad.mit.edu	37	16	24366272	24366272	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:24366272G>A	ENST00000005284.3	+	3	1616	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TTCTCAGCGCGGGCATCTTTT	0.572																																						uc002dmf.2		NA																	0					0						c.(412-414)GCG>GCA		voltage-dependent calcium channel gamma-3							58.0	53.0	54.0					16																	24366272		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366272G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.414G>A	16.37:g.24366272G>A							p.A138A	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1614	+			138			Helical; (Potential).			Silent	SNP	ENST00000005284.3	37	c.414G>A	CCDS10620.1																																																																																				0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		6	25	0	0	0	0	6	25				
C16orf58	64755	broad.mit.edu	37	16	31510704	31510704	+	Silent	SNP	G	G	A	rs372035715		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:31510704G>A	ENST00000327237.2	-	5	558	c.519C>T	c.(517-519)gaC>gaT	p.D173D	C16orf58_ENST00000430477.2_Silent_p.D31D|C16orf58_ENST00000570164.1_Silent_p.D173D|C16orf58_ENST00000567994.1_Silent_p.D128D			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	173						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						ACATGGCTACGTCATTGAGGA	0.547																																						uc002eci.1		NA																	0				ovary(1)|breast(1)	2						c.(517-519)GAC>GAT		hypothetical protein LOC64755		G		0,4394		0,0,2197	85.0	78.0	81.0		519	-0.2	0.0	16		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf58	NM_022744.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		173/469	31510704	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64755					integral to membrane		g.chr16:31510704G>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.519C>T	16.37:g.31510704G>A						C16orf58_uc010vfq.1_Silent_p.D31D	p.D173D	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN			5	531	-			173					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	ENST00000327237.2	37	c.519C>T	CCDS10715.1																																																																																				0.547	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		19	24	0	0	0	0	19	24				
KRT40	125115	broad.mit.edu	37	17	39135155	39135155	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:39135155T>A	ENST00000398486.2	-	8	1257	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	KRT40_ENST00000377755.4_Missense_Mutation_p.E366V|AC004231.2_ENST00000418393.1_RNA	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	366	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTCTGTCGCTCCAGGTCGCA	0.617																																						uc010cxh.1		NA																	0					0						c.(1096-1098)GAG>GTG		type I hair keratin KA36							95.0	104.0	101.0					17																	39135155		2203	4295	6498	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39135155T>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1097A>T	17.37:g.39135155T>A	ENSP00000381500:p.Glu366Val					KRT40_uc002hvq.1_RNA	p.E366V	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			8	1258	-		Breast(137;0.00043)	366			Rod.|Coil 2.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.1097A>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886874	0.91814	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.56	5.56	0.83823	Filament (1);	0.000000	0.34156	N	0.004215	D	0.95847	0.8648	M	0.93462	3.42	0.48395	D	0.999649	D	0.89917	1.0	D	0.87578	0.998	D	0.96854	0.9627	10	0.87932	D	0	.	15.1808	0.72956	0.0:0.0:0.0:1.0	.	366	Q6A162	K1C40_HUMAN	V	366	ENSP00000366984:E366V;ENSP00000381500:E366V	ENSP00000366984:E366V	E	-	2	0	KRT40	36388681	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.893000	0.63199	2.246000	0.74042	0.533000	0.62120	GAG		0.617	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		24	56	0	0	0	0	24	56				
DLX4	1748	broad.mit.edu	37	17	48050507	48050507	+	Silent	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:48050507C>A	ENST00000240306.3	+	2	649	c.354C>A	c.(352-354)cgC>cgA	p.R118R	DLX4_ENST00000411890.2_Silent_p.R46R|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	118					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AAAAGCTCCGCAAGCCGAGGA	0.677																																						uc002ipv.2		NA																	0					0						c.(352-354)CGC>CGA		distal-less homeobox 4 isoform a							29.0	34.0	32.0					17																	48050507		2203	4299	6502	SO:0001819	synonymous_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050507C>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.354C>A	17.37:g.48050507C>A						DLX4_uc002ipw.2_Silent_p.R46R	p.R118R	NM_138281	NP_612138	Q92988	DLX4_HUMAN			2	625	+			118			Homeobox.		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	c.354C>A	CCDS11555.1																																																																																				0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			6	15	1	0	1.42e-15	1.53e-15	6	15				
NPC1	4864	broad.mit.edu	37	18	21140392	21140392	+	Silent	SNP	G	G	A	rs558452690		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr18:21140392G>A	ENST00000269228.5	-	6	1238	c.684C>T	c.(682-684)gaC>gaT	p.D228D	NPC1_ENST00000412552.2_5'Flank|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	228					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCACAGACTCGTCACAGCCTT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17687	0.0		0.0	False		,,,				2504	0.001					uc002kum.3		NA																	0				ovary(2)	2						c.(682-684)GAC>GAT		Niemann-Pick disease, type C1 precursor							70.0	61.0	64.0					18																	21140392		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21140392G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.684C>T	18.37:g.21140392G>A						NPC1_uc010xaz.1_Silent_p.D12D|NPC1_uc010xba.1_Silent_p.D73D	p.D228D	NM_000271	NP_000262	O15118	NPC1_HUMAN			6	958	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		228					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.684C>T	CCDS11878.1																																																																																				0.512	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		18	19	0	0	0	0	18	19				
CDC37	11140	broad.mit.edu	37	19	10505957	10505957	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:10505957C>T	ENST00000222005.2	-	4	603	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	184					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCTGTCTCCTCGCACACCAGG	0.587																																						uc002mof.1		NA																	0					0						c.(550-552)GAG>AAG		cell division cycle 37 protein							238.0	204.0	216.0					19																	10505957		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505957C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.550G>A	19.37:g.10505957C>T	ENSP00000222005:p.Glu184Lys					CDC37_uc002moe.1_Missense_Mutation_p.E139K|CDC37_uc010dxf.1_Missense_Mutation_p.E21K|CDC37_uc002mog.1_Missense_Mutation_p.E184K|CDC37_uc002moh.2_Missense_Mutation_p.E184K	p.E184K	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	666	-			184					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.550G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699449	0.88830	.	.	ENSG00000105401	ENST00000222005	T	0.59364	0.27	4.01	4.01	0.46588	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.90759	3.145	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.51079	0.658;0.658	T	0.80801	-0.1220	10	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	184;184	Q6FG59;Q16543	.;CDC37_HUMAN	K	184	ENSP00000222005:E184K	ENSP00000222005:E184K	E	-	1	0	CDC37	10366957	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	5.359000	0.66074	1.948000	0.56530	0.462000	0.41574	GAG		0.587	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		49	84	0	0	0	0	49	84				
HAPLN4	404037	broad.mit.edu	37	19	19369528	19369528	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:19369528G>T	ENST00000291481.7	-	4	684	c.621C>A	c.(619-621)gaC>gaA	p.D207E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	207	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGTTGCACCAGTCCAGGCCGT	0.731																																						uc002nmb.2		NA																	0				pancreas(1)	1						c.(619-621)GAC>GAA		hyaluronan and proteoglycan link protein 4							12.0	13.0	13.0					19																	19369528		2188	4265	6453	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369528G>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.621C>A	19.37:g.19369528G>T	ENSP00000291481:p.Asp207Glu					HAPLN4_uc002nmc.2_Missense_Mutation_p.D207E	p.D207E	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	676	-			207			Link 1.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.621C>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101415	0.56183	.	.	ENSG00000187664	ENST00000291481	T	0.08370	3.1	3.97	2.93	0.34026	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	M	0.70842	2.15	0.37177	D	0.90329	D	0.89917	1.0	D	0.85130	0.997	T	0.04522	-1.0945	10	0.44086	T	0.13	-43.8365	5.6041	0.17369	0.3223:0.0:0.6777:0.0	.	207	Q86UW8	HPLN4_HUMAN	E	207	ENSP00000291481:D207E	ENSP00000291481:D207E	D	-	3	2	HAPLN4	19230528	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.873000	0.56093	0.888000	0.36160	0.313000	0.20887	GAC		0.731	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	7	1	0	0.00024832	0.000258479	4	7				
TSHZ3	57616	broad.mit.edu	37	19	31770448	31770448	+	Missense_Mutation	SNP	C	C	T	rs369463125		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:31770448C>T	ENST00000240587.4	-	2	578	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	84					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCAGCCATTCGGTCACTGGT	0.587																																						uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(250-252)CGA>CAA		zinc finger protein 537		C	GLN/ARG	0,4068		0,0,2034	72.0	71.0	72.0		251	5.9	1.0	19		72	1,8361		0,1,4180	no	missense	TSHZ3	NM_020856.2	43	0,1,6214	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	84/1082	31770448	1,12429	2034	4181	6215	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770448C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.251G>A	19.37:g.31770448C>T	ENSP00000240587:p.Arg84Gln						p.R84Q	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	316	-	Esophageal squamous(110;0.226)		84					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.251G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061921	0.36373	0.0	1.2E-4	ENSG00000121297	ENST00000240587	T	0.12039	2.72	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000006	T	0.20292	0.0488	N	0.17312	0.475	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.01608	-1.1313	10	0.02654	T	1	-12.0837	20.3116	0.98642	0.0:1.0:0.0:0.0	.	84	Q63HK5	TSH3_HUMAN	Q	84	ENSP00000240587:R84Q	ENSP00000240587:R84Q	R	-	2	0	TSHZ3	36462288	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	5.755000	0.68750	2.793000	0.96121	0.650000	0.86243	CGA		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		10	21	0	0	0	0	10	21				
THADA	63892	broad.mit.edu	37	2	43755035	43755035	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:43755035G>A	ENST00000405006.4	-	22	3708	c.3357C>T	c.(3355-3357)ctC>ctT	p.L1119L	THADA_ENST00000415080.2_Silent_p.L829L|THADA_ENST00000330266.7_Silent_p.L829L|THADA_ENST00000405975.2_Silent_p.L1119L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1119								p.L1119L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTACTTCAGTGAGTTTCACAA	0.323																																						uc002rsw.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3355-3357)CTC>CTT		thyroid adenoma associated							204.0	196.0	199.0					2																	43755035		1835	4086	5921	SO:0001819	synonymous_variant	63892						binding	g.chr2:43755035G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3357C>T	2.37:g.43755035G>A						THADA_uc010far.2_Silent_p.L388L|THADA_uc002rsx.3_Silent_p.L1119L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L828L|THADA_uc010fat.1_Silent_p.L266L|THADA_uc002rta.2_Silent_p.L829L	p.L1119L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			22	3709	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1119					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.3357C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	4.181	0.032276	0.08101	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.68	1.62	0.23740	.	.	.	.	.	T	0.51924	0.1703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39333	-0.9619	4	.	.	.	.	5.2558	0.15546	0.1079:0.0967:0.4967:0.2987	.	.	.	.	L	433	.	.	S	-	2	0	THADA	43608539	0.992000	0.36948	1.000000	0.80357	0.961000	0.63080	0.063000	0.14410	0.336000	0.23639	-1.367000	0.01198	TCA		0.323	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		6	130	0	0	0	0	6	130				
TFCP2L1	29842	broad.mit.edu	37	2	121989537	121989537	+	Silent	SNP	G	G	A	rs145068402	byFrequency	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:121989537G>A	ENST00000263707.5	-	13	1303	c.1206C>T	c.(1204-1206)caC>caT	p.H402H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	402					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGAAGATGGCGTGGTACACTG	0.572																																						uc002tmx.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1204-1206)CAC>CAT		LBP-9		G		0,4406		0,0,2203	195.0	154.0	168.0		1206	-4.9	0.9	2	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFCP2L1	NM_014553.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		402/480	121989537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121989537G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1206C>T	2.37:g.121989537G>A						TFCP2L1_uc010flr.2_Intron|TFCP2L1_uc010flq.2_Intron	p.H402H	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			13	1299	-	Renal(3;0.01)		402					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.1206C>T	CCDS2134.1																																																																																				0.572	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		27	47	0	0	0	0	27	47				
LRP1B	53353	broad.mit.edu	37	2	141081592	141081592	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:141081592T>C	ENST00000389484.3	-	81	13355	c.12384A>G	c.(12382-12384)atA>atG	p.I4128M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4128					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGCTCCATATATATAATCTT	0.294										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12382-12384)ATA>ATG		low density lipoprotein-related protein 1B							55.0	62.0	60.0					2																	141081592		2203	4285	6488	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081592T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12384A>G	2.37:g.141081592T>C	ENSP00000374135:p.Ile4128Met	TSP Lung(27;0.18)					p.I4128M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	81	13356	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4128			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12384A>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.754510|2.754510	0.49362|0.49362	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.92299|.	-3.01|.	5.82|5.82	3.27|3.27	0.37495|0.37495	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.060134|.	0.64402|.	D|.	0.000006|.	T|T	0.49864|0.49864	0.1582|0.1582	L|L	0.57536|0.57536	1.79|1.79	0.32302|0.32302	N|N	0.564858|0.564858	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.57447|0.57447	-0.7810|-0.7810	10|5	0.33940|.	T|.	0.23|.	.|.	8.2052|8.2052	0.31452|0.31452	0.1184:0.0:0.224:0.6577|0.1184:0.0:0.224:0.6577	.|.	4128|.	Q9NZR2|.	LRP1B_HUMAN|.	M|C	4128;4066|360	ENSP00000374135:I4128M|.	ENSP00000374135:I4128M|.	I|Y	-|-	3|2	3|0	LRP1B|LRP1B	140798062|140798062	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	0.012000|0.012000	0.13287|0.13287	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	39	0	0	0	0	26	39				
TTN	7273	broad.mit.edu	37	2	179654722	179654722	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:179654722G>T	ENST00000591111.1	-	12	2145	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	TTN_ENST00000342992.6_Missense_Mutation_p.Q641K|TTN_ENST00000342175.6_Missense_Mutation_p.Q595K|TTN_ENST00000589042.1_Missense_Mutation_p.Q641K|TTN_ENST00000360870.5_Missense_Mutation_p.Q641K|TTN_ENST00000460472.2_Missense_Mutation_p.Q595K|TTN_ENST00000359218.5_Missense_Mutation_p.Q595K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTATTTGCACTTGTTCT	0.328																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1921-1923)CAA>AAA		titin isoform N2-A							239.0	221.0	227.0					2																	179654722		2202	4298	6500	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654722G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1921C>A	2.37:g.179654722G>T	ENSP00000465570:p.Gln641Lys					TTN_uc010zfh.1_Missense_Mutation_p.Q595K|TTN_uc010zfi.1_Missense_Mutation_p.Q595K|TTN_uc010zfj.1_Missense_Mutation_p.Q595K|TTN_uc002unb.2_Missense_Mutation_p.Q641K|TTN_uc010frg.1_Intron	p.Q641K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	2145	-			641					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1921C>A		.	.	.	.	.	.	.	.	.	.	G	11.64	1.697570	0.30142	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62105	0.05;0.28;0.27;0.26;0.43	5.87	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.50888	0.1642	N	0.22421	0.69	0.21184	N	0.999769	B;B;B;B;B	0.19200	0.009;0.009;0.009;0.009;0.034	B;B;B;B;B	0.21708	0.01;0.01;0.01;0.01;0.036	T	0.50398	-0.8833	9	0.87932	D	0	.	12.6247	0.56623	0.0:0.1192:0.7424:0.1384	.	595;595;595;641;641	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	641;595;595;595;595;641	ENSP00000343764:Q641K;ENSP00000434586:Q595K;ENSP00000340554:Q595K;ENSP00000352154:Q595K;ENSP00000354117:Q641K	ENSP00000340554:Q595K	Q	-	1	0	TTN	179362967	0.944000	0.32072	1.000000	0.80357	0.973000	0.67179	1.639000	0.37176	1.478000	0.48253	0.655000	0.94253	CAA		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	48	1	0	1.58e-08	1.68e-08	12	48				
KANSL1L	151050	broad.mit.edu	37	2	211018639	211018639	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:211018639C>T	ENST00000281772.9	-	2	931	c.668G>A	c.(667-669)cGt>cAt	p.R223H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.R223H|KANSL1L_ENST00000457374.1_Missense_Mutation_p.R223H|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R223H|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	223						histone acetyltransferase complex (GO:0000123)											ATGAAGTAAACGAGCATGTAC	0.403																																						uc002vds.2		NA																	0				ovary(3)	3						c.(667-669)CGT>CAT		hypothetical protein LOC151050							108.0	106.0	107.0					2																	211018639		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018639C>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.668G>A	2.37:g.211018639C>T	ENSP00000281772:p.Arg223His					C2orf67_uc002vdt.2_Missense_Mutation_p.R223H|C2orf67_uc002vdw.2_Missense_Mutation_p.R223H|C2orf67_uc002vdy.1_Missense_Mutation_p.R223H|C2orf67_uc002vdv.2_Missense_Mutation_p.R223H|C2orf67_uc002vdx.1_Missense_Mutation_p.R223H	p.R223H	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	876	-		Renal(323;0.202)	223					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.668G>A	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328123	0.60743	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.91	5.04	0.67666	.	0.184175	0.38058	N	0.001827	T	0.62768	0.2455	M	0.61703	1.905	0.28277	N	0.924137	P;P;D;D	0.89917	0.786;0.94;1.0;1.0	B;B;D;D	0.83275	0.34;0.34;0.996;0.996	T	0.58769	-0.7578	9	0.44086	T	0.13	.	10.2017	0.43087	0.0:0.7943:0.0:0.2057	.	223;223;223;223	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	H	223	.	ENSP00000281772:R223H	R	-	2	0	C2orf67	210726884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.477000	0.35431	1.531000	0.49152	0.558000	0.71614	CGT		0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		24	66	0	0	0	0	24	66				
SLC23A2	9962	broad.mit.edu	37	20	4842675	4842675	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:4842675G>A	ENST00000379333.1	-	15	1935	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R401W|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R515W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	515					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGAGGTTCCGGGAAGAATTT	0.473																																						uc002wlg.1		NA																	0				ovary(2)	2						c.(1543-1545)CGG>TGG		solute carrier family 23 (nucleobase							87.0	90.0	89.0					20																	4842675		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4842675G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1543C>T	20.37:g.4842675G>A	ENSP00000368637:p.Arg515Trp					SLC23A2_uc010zqr.1_Missense_Mutation_p.R400W|SLC23A2_uc002wlh.1_Missense_Mutation_p.R515W	p.R515W	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			15	1918	-			515			Helical; (Potential).		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1543C>T	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358008|4.358008	0.82243|0.82243	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.24151	.|1.87;1.87;1.87	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64305|0.64305	0.2586|0.2586	H|H	0.94847|0.94847	3.59|3.59	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.99;1.0	.|P;D	.|0.85130	.|0.765;0.997	T|T	0.75028|0.75028	-0.3462|-0.3462	5|10	.|0.87932	.|D	.|0	-19.614|-19.614	17.9798|17.9798	0.89137|0.89137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|401;515	.|B4DJZ1;Q9UGH3	.|.;S23A2_HUMAN	L|W	271|515;515;401	.|ENSP00000368637:R515W;ENSP00000344322:R515W;ENSP00000406601:R401W	.|ENSP00000344322:R515W	P|R	-|-	2|1	0|2	SLC23A2|SLC23A2	4790675|4790675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.281000|7.281000	0.78621|0.78621	2.665000|2.665000	0.90641|0.90641	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.473	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			14	20	0	0	0	0	14	20				
CSRP2BP	57325	broad.mit.edu	37	20	18165392	18165392	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:18165392A>C	ENST00000435364.3	+	9	2472	c.2131A>C	c.(2131-2133)Aga>Cga	p.R711R	CSRP2BP_ENST00000377681.3_Silent_p.R710R|CSRP2BP_ENST00000489634.2_Silent_p.R583R	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	711	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCTGAATGGAGAAGAGCAGG	0.393																																						uc002wqj.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2131-2133)AGA>CGA		CSRP2 binding protein							196.0	163.0	174.0					20																	18165392		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18165392A>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2131A>C	20.37:g.18165392A>C						CSRP2BP_uc002wqk.2_Silent_p.R583R|CSRP2BP_uc010zru.1_Silent_p.R582R	p.R711R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			10	2753	+			711			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.2131A>C	CCDS13133.1																																																																																				0.393	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		22	52	0	0	0	0	22	52				
EYA2	2139	broad.mit.edu	37	20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:45812032C>T	ENST00000327619.5	+	15	1903	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	EYA2_ENST00000317304.6_Missense_Mutation_p.A480V|EYA2_ENST00000357410.3_Missense_Mutation_p.A431V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	510					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.537																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NA																	0				ovary(1)	1						c.(1528-1530)GCG>GTG		eyes absent 2 isoform a							263.0	189.0	214.0					20																	45812032		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45812032C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1529C>T	20.37:g.45812032C>T	ENSP00000333640:p.Ala510Val					EYA2_uc010ghp.2_Missense_Mutation_p.A431V|EYA2_uc002xsn.2_Missense_Mutation_p.A515V|EYA2_uc002xso.2_Missense_Mutation_p.A510V|EYA2_uc002xsp.2_Missense_Mutation_p.A510V|EYA2_uc002xsq.2_Missense_Mutation_p.A480V	p.A510V	NM_005244	NP_005235	O00167	EYA2_HUMAN			15	1903	+		Myeloproliferative disorder(115;0.0241)	510					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1529C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600519	0.87055	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.92149	-2.98;-2.98;-2.98	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;0.997	D;P;P;P	0.66716	0.946;0.811;0.563;0.477	D	0.97017	0.9740	10	0.87932	D	0	0.0345	19.7013	0.96054	0.0:1.0:0.0:0.0	.	431;480;510;510	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	510;431;480;480	ENSP00000333640:A510V;ENSP00000349986:A431V;ENSP00000321590:A480V	ENSP00000321590:A480V	A	+	2	0	EYA2	45245439	1.000000	0.71417	0.325000	0.25375	0.318000	0.28184	7.746000	0.85057	2.657000	0.90304	0.655000	0.94253	GCG		0.537	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		22	24	0	0	0	0	22	24				
ARFGEF2	10564	broad.mit.edu	37	20	47567892	47567892	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:47567892C>T	ENST00000371917.4	+	4	309	c.309C>T	c.(307-309)aaC>aaT	p.N103N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	103	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCACTGGCAACGCCCCTGACA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(307-309)AAC>AAT		ADP-ribosylation factor guanine							72.0	71.0	71.0					20																	47567892		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47567892C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.309C>T	20.37:g.47567892C>T							p.N103N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		4	461	+			103					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.309C>T	CCDS13411.1																																																																																				0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		11	25	0	0	0	0	11	25				
BCAS1	8537	broad.mit.edu	37	20	52570172	52570172	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:52570172C>T	ENST00000395961.3	-	11	1645	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	BCAS1_ENST00000371435.2_Silent_p.Q415Q|BCAS1_ENST00000434986.2_Silent_p.Q159Q|BCAS1_ENST00000371440.3_Silent_p.Q502Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	493						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTTACCCTTCTGTGGTGCTC	0.493																																						uc002xws.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1477-1479)CAG>CAA		breast carcinoma amplified sequence 1							183.0	145.0	158.0					20																	52570172		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52570172C>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1479G>A	20.37:g.52570172C>T						BCAS1_uc010zza.1_Silent_p.Q159Q|BCAS1_uc010zzb.1_Silent_p.Q419Q|BCAS1_uc010gim.2_Silent_p.Q349Q|BCAS1_uc002xwt.2_Silent_p.Q479Q|BCAS1_uc010gil.1_Silent_p.Q415Q	p.Q493Q	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1817	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		493					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.1479G>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	4.388	0.071695	0.08436	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.17	-2.02	0.07388	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.21675	N	0.999591	.	.	.	.	.	.	T	0.27905	-1.0060	4	.	.	.	0.0523	5.6045	0.17371	0.0:0.284:0.3888:0.3273	.	.	.	.	K	156	.	.	R	-	2	0	BCAS1	52003579	0.114000	0.22134	0.000000	0.03702	0.074000	0.17049	-0.049000	0.11924	-0.691000	0.05135	0.555000	0.69702	AGA		0.493	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		15	40	0	0	0	0	15	40				
DYRK1A	1859	broad.mit.edu	37	21	38858909	38858909	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:38858909C>T	ENST00000398960.2	+	5	732	c.657C>T	c.(655-657)taC>taT	p.Y219Y	DYRK1A_ENST00000455387.2_5'Flank|DYRK1A_ENST00000451934.1_Silent_p.Y219Y|DYRK1A_ENST00000321219.8_Silent_p.Y219Y|DYRK1A_ENST00000398956.2_Silent_p.Y219Y|DYRK1A_ENST00000338785.3_Silent_p.Y219Y|DYRK1A_ENST00000339659.4_Silent_p.Y210Y	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATGAAATACTACATAGGTA	0.348																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(655-657)TAC>TAT		dual-specificity tyrosine-(Y)-phosphorylation							49.0	47.0	48.0					21																	38858909		2203	4300	6503	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38858909C>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.657C>T	21.37:g.38858909C>T						DYRK1A_uc002ywh.1_Silent_p.Y181Y|DYRK1A_uc002ywi.2_Silent_p.Y219Y|DYRK1A_uc002ywj.2_Silent_p.Y210Y|DYRK1A_uc002ywl.2_Silent_p.Y219Y|DYRK1A_uc002ywm.2_Silent_p.Y219Y|DYRK1A_uc011aei.1_5'Flank	p.Y219Y	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			5	732	+			219			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	c.657C>T	CCDS42925.1																																																																																				0.348	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		13	18	0	0	0	0	13	18				
DIP2A	23181	broad.mit.edu	37	21	47916967	47916967	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:47916967C>T	ENST00000417564.2	+	4	371	c.350C>T	c.(349-351)tCg>tTg	p.S117L	DIP2A_ENST00000435722.3_Missense_Mutation_p.S117L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S117L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S117L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S53L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S117L|DIP2A_ENST00000318711.7_Missense_Mutation_p.S117L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	117	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTATGCCTTCGAAGAGACGT	0.438																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(349-351)TCG>TTG		disco-interacting protein 2A isoform a							136.0	128.0	130.0					21																	47916967		1965	4151	6116	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47916967C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.350C>T	21.37:g.47916967C>T	ENSP00000392066:p.Ser117Leu					DIP2A_uc011afy.1_Missense_Mutation_p.S53L|DIP2A_uc011afz.1_Missense_Mutation_p.S117L|DIP2A_uc002zjl.2_Missense_Mutation_p.S117L|DIP2A_uc002zjm.2_Missense_Mutation_p.S117L|DIP2A_uc010gql.2_Missense_Mutation_p.S117L|DIP2A_uc002zjn.2_Missense_Mutation_p.S117L	p.S117L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	4	533	+	Breast(49;0.0933)		117					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.350C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008784	0.93346	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.43294	0.95;1.64;0.95;0.95;0.95;0.95;0.95	5.52	5.52	0.82312	DMAP1-binding (1);	0.000000	0.64402	D	0.000001	T	0.67050	0.2852	M	0.76838	2.35	0.80722	D	1	P;D;D;P;P;D	0.89917	0.683;0.999;1.0;0.683;0.882;0.971	B;P;D;B;P;P	0.83275	0.407;0.815;0.996;0.407;0.475;0.559	T	0.67317	-0.5701	10	0.46703	T	0.11	-13.1603	18.4623	0.90743	0.0:1.0:0.0:0.0	.	117;53;117;117;117;117	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	L	117;53;117;117;117;117;117;117	ENSP00000383133:S117L;ENSP00000400528:S53L;ENSP00000323633:S117L;ENSP00000393434:S117L;ENSP00000430249:S117L;ENSP00000415089:S117L;ENSP00000392066:S117L	ENSP00000323633:S117L	S	+	2	0	DIP2A	46741395	1.000000	0.71417	0.644000	0.29465	0.736000	0.42039	7.680000	0.84062	2.595000	0.87683	0.655000	0.94253	TCG		0.438	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		8	13	0	0	0	0	8	13				
CRYBA4	1413	broad.mit.edu	37	22	27021582	27021582	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:27021582G>T	ENST00000354760.3	+	4	331	c.296G>T	c.(295-297)tGt>tTt	p.C99F	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	99	Connecting peptide.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCTGCGGCCTGTGCTGTAAGT	0.597																																						uc003acz.3		NA																	0					0						c.(295-297)TGT>TTT		crystallin, beta A4							80.0	83.0	82.0					22																	27021582		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021582G>T		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.296G>T	22.37:g.27021582G>T	ENSP00000346805:p.Cys99Phe						p.C99F	NM_001886	NP_001877	P53673	CRBA4_HUMAN			4	331	+			99			Connecting peptide.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.296G>T	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883366	0.33255	.	.	ENSG00000196431	ENST00000354760	T	0.76578	-1.03	4.43	4.43	0.53597	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.109912	0.64402	D	0.000006	T	0.76364	0.3977	M	0.75264	2.295	0.80722	D	1	B	0.29085	0.232	B	0.27887	0.084	T	0.75590	-0.3265	10	0.35671	T	0.21	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	99	P53673	CRBA4_HUMAN	F	99	ENSP00000346805:C99F	ENSP00000346805:C99F	C	+	2	0	CRYBA4	25351582	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	3.461000	0.53035	2.304000	0.77564	0.561000	0.74099	TGT		0.597	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		21	65	1	0	2.28e-19	2.47e-19	21	65				
RBX1	9978	broad.mit.edu	37	22	41363843	41363843	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:41363843C>T	ENST00000216225.8	+	4	309	c.269C>T	c.(268-270)aCa>aTa	p.T90I		NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	90					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						TGGCTCAAAACACGACAGGTG	0.438																																						uc003azk.2		NA																	0				skin(1)	1						c.(268-270)ACA>ATA		ring-box 1							99.0	97.0	98.0					22																	41363843		2203	4300	6503	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41363843C>T	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.269C>T	22.37:g.41363843C>T	ENSP00000216225:p.Thr90Ile					XPNPEP3_uc011aoy.1_RNA	p.T90I	NM_014248	NP_055063	P62877	RBX1_HUMAN			4	287	+			90			RING-type.		B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.269C>T	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348292	0.95807	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.049905	0.85682	D	0.000000	T	0.81697	0.4877	M	0.74389	2.26	0.80722	D	1	P	0.36944	0.574	P	0.55455	0.776	T	0.81623	-0.0849	9	0.87932	D	0	.	18.7997	0.92011	0.0:1.0:0.0:0.0	.	90	P62877	RBX1_HUMAN	I	90	.	ENSP00000216225:T90I	T	+	2	0	RBX1	39693789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.739000	0.93911	0.462000	0.41574	ACA		0.438	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		15	36	0	0	0	0	15	36				
PLXNB2	23654	broad.mit.edu	37	22	50719042	50719042	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50719042C>T	ENST00000449103.1	-	25	4191	c.4051G>A	c.(4051-4053)Gcg>Acg	p.A1351T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1351T|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1351					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGGGACGCGAAGTAGACC	0.637																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4051-4053)GCG>ACG		plexin B2 precursor							62.0	68.0	66.0					22																	50719042		2156	4249	6405	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719042C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4051G>A	22.37:g.50719042C>T	ENSP00000409171:p.Ala1351Thr					PLXNB2_uc003bkt.1_Missense_Mutation_p.A143T|PLXNB2_uc003bku.1_Missense_Mutation_p.A336T	p.A1351T	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	25	4157	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1351			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4051G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222328	0.95139	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.24350	1.86;1.86	4.28	4.28	0.50868	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000009	T	0.59390	0.2190	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70730	-0.4792	10	0.87932	D	0	.	17.2429	0.87019	0.0:1.0:0.0:0.0	.	1351	O15031	PLXB2_HUMAN	T	1351	ENSP00000409171:A1351T;ENSP00000352288:A1351T	ENSP00000352288:A1351T	A	-	1	0	PLXNB2	49061169	1.000000	0.71417	0.568000	0.28447	0.869000	0.49853	7.348000	0.79366	2.366000	0.80165	0.561000	0.74099	GCG		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	37	0	0	0	0	7	37				
NCAPH2	29781	broad.mit.edu	37	22	50960982	50960982	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50960982G>T	ENST00000420993.2	+	16	1481	c.1359G>T	c.(1357-1359)agG>agT	p.R453S	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R453S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R454S	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	453					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGACCCCAGGGAAGCCGCTG	0.652																																						uc003blr.3		NA																	0				ovary(1)|skin(1)	2						c.(1357-1359)AGG>AGT		kleisin beta isoform 2							49.0	61.0	57.0					22																	50960982		2203	4299	6502	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50960982G>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1359G>T	22.37:g.50960982G>T	ENSP00000410088:p.Arg453Ser					NCAPH2_uc003blv.2_Missense_Mutation_p.R453S|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.R454S|NCAPH2_uc003bly.3_RNA	p.R453S	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	16	1481	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	453					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1359G>T	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.947|4.947	0.175926|0.175926	0.09443|0.09443	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000522304|ENST00000420993;ENST00000395701;ENST00000299821	.|.	.|.	.|.	5.19|5.19	0.699|0.699	0.18093|0.18093	.|.	.|1.579570	.|0.03566	.|N	.|0.227916	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20164	.|0.034;0.034;0.042	.|B;B;B	.|0.22152	.|0.023;0.036;0.038	T|T	0.17930|0.17930	-1.0353|-1.0353	5|9	.|0.07644	.|T	.|0.81	-11.2854|-11.2854	8.326|8.326	0.32158|0.32158	0.3277:0.0:0.6723:0.0|0.3277:0.0:0.6723:0.0	.|.	.|454;431;453	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4	.|.;.;CNDH2_HUMAN	V|S	10|453;453;454	.|.	.|ENSP00000299821:R454S	G|R	+|+	2|3	0|2	NCAPH2|NCAPH2	49307848|49307848	0.110000|0.110000	0.22057|0.22057	0.009000|0.009000	0.14445|0.14445	0.003000|0.003000	0.03518|0.03518	0.487000|0.487000	0.22356|0.22356	0.218000|0.218000	0.20820|0.20820	-0.812000|-0.812000	0.03155|0.03155	GGG|AGG		0.652	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		16	30	1	0	5.39e-06	5.66e-06	16	30				
OXTR	5021	broad.mit.edu	37	3	8794894	8794894	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:8794894G>A	ENST00000316793.3	-	4	1563	c.939C>T	c.(937-939)atC>atT	p.I313I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	313					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGAGCATGACGATGATGAAGG	0.552																																						uc003brc.2		NA																	0					0						c.(937-939)ATC>ATT		oxytocin receptor	Carbetocin(DB01282)						50.0	45.0	47.0					3																	8794894		2203	4300	6503	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794894G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.939C>T	3.37:g.8794894G>A							p.I313I	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1561	-			313			Helical; Name=7; (Potential).		Q15071	Silent	SNP	ENST00000316793.3	37	c.939C>T	CCDS2570.1																																																																																				0.552	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			10	14	0	0	0	0	10	14				
CACNA2D2	9254	broad.mit.edu	37	3	50418478	50418478	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:50418478T>C	ENST00000479441.1	-	7	731	c.732A>G	c.(730-732)acA>acG	p.T244T	CACNA2D2_ENST00000429770.1_Silent_p.T244T|CACNA2D2_ENST00000395083.1_Silent_p.T244T|CACNA2D2_ENST00000423994.2_Silent_p.T244T|CACNA2D2_ENST00000435965.1_Silent_p.T244T|CACNA2D2_ENST00000266039.3_Silent_p.T244T|CACNA2D2_ENST00000424201.2_Silent_p.T244T|CACNA2D2_ENST00000360963.3_Silent_p.T175T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	244					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCACAGCAGTGTGGGGTCTT	0.607																																						uc003daq.2		NA																	0				lung(1)	1						c.(730-732)ACA>ACG		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						138.0	134.0	136.0					3																	50418478		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50418478T>C	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.732A>G	3.37:g.50418478T>C						CACNA2D2_uc003dap.2_Silent_p.T244T	p.T244T	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	770	-			244			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.732A>G	CCDS54588.1																																																																																				0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		36	62	0	0	0	0	36	62				
AGTR1	185	broad.mit.edu	37	3	148459232	148459232	+	Missense_Mutation	SNP	G	G	A	rs56257794		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:148459232G>A	ENST00000497524.1	+	2	801	c.410G>A	c.(409-411)cGc>cAc	p.R137H	AGTR1_ENST00000542281.1_Missense_Mutation_p.R137H|AGTR1_ENST00000474935.1_Missense_Mutation_p.R137H|AGTR1_ENST00000418473.2_Missense_Mutation_p.R137H|AGTR1_ENST00000404754.2_Missense_Mutation_p.R137H|AGTR1_ENST00000475347.1_Missense_Mutation_p.R137H|AGTR1_ENST00000402260.1_Missense_Mutation_p.R137H|AGTR1_ENST00000349243.3_Missense_Mutation_p.R137H|AGTR1_ENST00000461609.1_Missense_Mutation_p.R137H	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	137					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGAAGTCCCGCCTTCGACGC	0.488																																						uc003ewg.2		NA																	0					0						c.(409-411)CGC>CAC		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						127.0	121.0	123.0					3																	148459232		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459232G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.410G>A	3.37:g.148459232G>A	ENSP00000419422:p.Arg137His					AGTR1_uc003ewh.2_Missense_Mutation_p.R137H|AGTR1_uc003ewi.2_Missense_Mutation_p.R137H|AGTR1_uc003ewj.2_Missense_Mutation_p.R137H|AGTR1_uc003ewk.2_Missense_Mutation_p.R137H	p.R137H	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	856	+			137			Cytoplasmic (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.410G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013428	0.93346	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81595	-0.0861	10	0.49607	T	0.09	-12.8375	20.0706	0.97721	0.0:0.0:1.0:0.0	rs56257794;rs62619927	137	P30556	AGTR1_HUMAN	H	137	ENSP00000419422:R137H;ENSP00000273430:R137H;ENSP00000443186:R137H;ENSP00000398832:R137H;ENSP00000385612:R137H;ENSP00000419783:R137H;ENSP00000418084:R137H;ENSP00000418851:R137H;ENSP00000385641:R137H	ENSP00000273430:R137H	R	+	2	0	AGTR1	149941922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.744000	0.94065	0.655000	0.94253	CGC		0.488	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			45	151	0	0	0	0	45	151				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	52	0	0	0	0	16	52				
PI4K2B	55300	broad.mit.edu	37	4	25258218	25258218	+	Silent	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:25258218A>G	ENST00000264864.6	+	4	867	c.678A>G	c.(676-678)aaA>aaG	p.K226K	PI4K2B_ENST00000512921.1_Silent_p.K130K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	226	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ACCGTGCAAAATCAAGAGGCA	0.363																																						uc003grk.2		NA																	0				ovary(2)|skin(2)	4						c.(676-678)AAA>AAG		phosphatidylinositol 4-kinase type 2 beta							119.0	119.0	119.0					4																	25258218		2203	4300	6503	SO:0001819	synonymous_variant	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258218A>G	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.678A>G	4.37:g.25258218A>G						PI4K2B_uc011bxs.1_Silent_p.K130K	p.K226K	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			4	811	+		Breast(46;0.173)	226			PI3K/PI4K.		Q9NUW2	Silent	SNP	ENST00000264864.6	37	c.678A>G	CCDS3433.1																																																																																				0.363	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		28	57	0	0	0	0	28	57				
TLR10	81793	broad.mit.edu	37	4	38776633	38776633	+	Silent	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:38776633C>A	ENST00000308973.4	-	4	1184	c.579G>T	c.(577-579)ctG>ctT	p.L193L	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Silent_p.L193L|TLR10_ENST00000506111.1_Silent_p.L193L|TLR10_ENST00000361424.2_Silent_p.L193L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	193					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAACAATGTGCAGTTTTGTTG	0.358																																						uc003gti.2		NA																	0				lung(1)|breast(1)	2						c.(577-579)CTG>CTT		toll-like receptor 10 precursor							77.0	79.0	78.0					4																	38776633		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776633C>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.579G>T	4.37:g.38776633C>A						TLR10_uc003gtj.2_Silent_p.L193L|TLR10_uc003gtk.2_Silent_p.L193L	p.L193L	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	958	-			193			Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.579G>T	CCDS3445.1																																																																																				0.358	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			21	45	1	0	7.42e-09	7.9e-09	21	45				
POLR2B	5431	broad.mit.edu	37	4	57889516	57889516	+	Missense_Mutation	SNP	G	G	A	rs376895637		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:57889516G>A	ENST00000381227.1	+	20	2949	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	POLR2B_ENST00000441246.2_Missense_Mutation_p.D839N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D846N|POLR2B_ENST00000431623.2_Missense_Mutation_p.D771N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	846					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418																																						uc003hcl.1		NA																	0				ovary(2)	2						c.(2536-2538)GAC>AAC		DNA directed RNA polymerase II polypeptide B		G	ASN/ASP	0,4406		0,0,2203	87.0	79.0	82.0		2536	5.5	1.0	4		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLR2B	NM_000938.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	846/1175	57889516	1,13005	2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889516G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2536G>A	4.37:g.57889516G>A	ENSP00000370625:p.Asp846Asn					POLR2B_uc011cae.1_Missense_Mutation_p.D839N|POLR2B_uc011caf.1_Missense_Mutation_p.D771N|POLR2B_uc003hcm.1_Missense_Mutation_p.D339N	p.D846N	NM_000938	NP_000929	P30876	RPB2_HUMAN			19	2579	+	Glioma(25;0.08)|all_neural(26;0.181)		846					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2536G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999786	0.93227	0.0	1.16E-4	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.52	5.52	0.82312	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.148083	0.64402	D	0.000012	D	0.87216	0.6122	M	0.78344	2.41	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.59487	0.804;0.858	D	0.87462	0.2408	10	0.59425	D	0.04	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	771;846	C9J4M6;P30876	.;RPB2_HUMAN	N	846;771;839;846	ENSP00000370625:D846N;ENSP00000391096:D771N;ENSP00000391452:D839N;ENSP00000312735:D846N	ENSP00000312735:D846N	D	+	1	0	POLR2B	57584273	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.657000	0.98554	2.873000	0.98535	0.563000	0.77884	GAC		0.418	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		10	29	0	0	0	0	10	29				
GC	2638	broad.mit.edu	37	4	72629179	72629179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:72629179G>T	ENST00000273951.8	-	6	990	c.647C>A	c.(646-648)tCa>tAa	p.S216*	GC_ENST00000504199.1_Nonsense_Mutation_p.S235*|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.S216*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	216	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GACTCTATTTGACAGAGTGGT	0.358																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(646-648)TCA>TAA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						109.0	103.0	105.0					4																	72629179		2203	4300	6503	SO:0001587	stop_gained	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629179G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.647C>A	4.37:g.72629179G>T	ENSP00000273951:p.Ser216*					GC_uc003hgd.2_Nonsense_Mutation_p.S94*|GC_uc010iie.2_Nonsense_Mutation_p.S216*|GC_uc010iif.2_Nonsense_Mutation_p.S235*	p.S216*	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		6	800	-		all_hematologic(202;0.107)	216			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Nonsense_Mutation	SNP	ENST00000273951.8	37	c.647C>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	39	7.483802	0.98312	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	.	.	.	5.72	5.72	0.89469	.	0.369228	0.26450	N	0.024319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4785	0.94998	0.0:0.0:1.0:0.0	.	.	.	.	X	216;235;216	.	ENSP00000273951:S216X	S	-	2	0	GC	72848043	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.143000	0.71756	2.694000	0.91930	0.655000	0.94253	TCA		0.358	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			24	48	1	0	1.18e-12	1.27e-12	24	48				
KIAA1109	84162	broad.mit.edu	37	4	123176339	123176339	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:123176339T>C	ENST00000264501.4	+	40	6652	c.6279T>C	c.(6277-6279)gtT>gtC	p.V2093V	KIAA1109_ENST00000388738.3_Silent_p.V2093V|KIAA1109_ENST00000455637.1_Silent_p.V2093V			Q2LD37	K1109_HUMAN	KIAA1109	2093					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAAAGTTGCTCGCTTTC	0.338																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(6277-6279)GTT>GTC		fragile site-associated protein							115.0	108.0	110.0					4																	123176339		1841	4080	5921	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123176339T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6279T>C	4.37:g.123176339T>C						KIAA1109_uc003iel.1_Silent_p.V28V|KIAA1109_uc003iek.2_Silent_p.V712V	p.V2093V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			38	6324	+			2093					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.6279T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.226|9.226	1.034671|1.034671	0.19590|0.19590	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|.	.|.	.|.	5.86|5.86	0.537|0.537	0.17144|0.17144	.|.	.|.	.|.	.|.	.|.	T|T	0.42337|0.42337	0.1198|0.1198	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21008|0.21008	-1.0258|-1.0258	4|4	.|.	.|.	.|.	.|.	1.7753|1.7753	0.03020|0.03020	0.1105:0.2719:0.2513:0.3663|0.1105:0.2719:0.2513:0.3663	.|.	.|.	.|.	.|.	R|S	51|666	.|.	.|.	C|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123395789|123395789	0.892000|0.892000	0.30473|0.30473	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	-0.070000|-0.070000	0.11523|0.11523	-0.098000|-0.098000	0.12285|0.12285	0.477000|0.477000	0.44152|0.44152	TGC|TTG		0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	53	0	0	0	0	5	53				
NPR3	4883	broad.mit.edu	37	5	32712195	32712195	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:32712195G>A	ENST00000265074.8	+	1	656	c.313G>A	c.(313-315)Gat>Aat	p.D105N	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.D105N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTACGAGGATTCAGACTG	0.682																																						uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(313-315)GAT>AAT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						46.0	54.0	52.0					5																	32712195		1993	4165	6158	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712195G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.313G>A	5.37:g.32712195G>A	ENSP00000265074:p.Asp105Asn					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.D105N	p.D105N	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	531	+			105			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.313G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129912	0.37630	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	T;T	0.31769	1.48;1.48	5.37	4.49	0.54785	Extracellular ligand-binding receptor (1);	0.188620	0.56097	D	0.000029	T	0.20901	0.0503	N	0.21282	0.65	0.80722	D	1	B;B	0.33171	0.4;0.4	B;B	0.29785	0.107;0.107	T	0.03068	-1.1076	10	0.25106	T	0.35	-24.8899	14.9319	0.70923	0.0:0.0:0.8555:0.1445	.	105;105	P17342;Q60I31	ANPRC_HUMAN;.	N	105	ENSP00000265074:D105N;ENSP00000398028:D105N	ENSP00000265074:D105N	D	+	1	0	NPR3	32747952	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.824000	0.55723	1.248000	0.43934	0.561000	0.74099	GAT		0.682	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		25	44	0	0	0	0	25	44				
VCAN	1462	broad.mit.edu	37	5	82834751	82834751	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:82834751T>C	ENST00000265077.3	+	8	6494	c.5929T>C	c.(5929-5931)Tca>Cca	p.S1977P	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S990P|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1977	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGTACCTACTTCAGTTCACAT	0.488																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5929-5931)TCA>CCA		versican isoform 1 precursor							100.0	92.0	95.0					5																	82834751		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834751T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5929T>C	5.37:g.82834751T>C	ENSP00000265077:p.Ser1977Pro					VCAN_uc003kij.3_Missense_Mutation_p.S990P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S641P	p.S1977P	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6285	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1977			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5929T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.408407	0.25378	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85861	-2.01;-2.04;3.06	5.97	0.711	0.18162	.	0.690535	0.13344	N	0.394980	T	0.79575	0.4469	M	0.69823	2.125	0.09310	N	0.999999	B;B	0.17667	0.023;0.013	B;B	0.18263	0.021;0.009	T	0.68454	-0.5404	10	0.52906	T	0.07	.	0.8716	0.01215	0.1748:0.1487:0.2476:0.4289	.	990;1977	P13611-2;P13611	.;CSPG2_HUMAN	P	1977;990;990	ENSP00000265077:S1977P;ENSP00000340062:S990P;ENSP00000426251:S990P	ENSP00000265077:S1977P	S	+	1	0	VCAN	82870507	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	0.053000	0.14184	-0.082000	0.12640	-0.435000	0.05868	TCA		0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	31	0	0	0	0	13	31				
TMEM184A	202915	broad.mit.edu	37	7	1595084	1595084	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:1595084C>T	ENST00000297477.5	-	2	353	c.37G>A	c.(37-39)Gtc>Atc	p.V13I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	13					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ACCAGGGGGACGCCGGCTGTC	0.677																																						uc003skv.3		NA																	0					0						c.(37-39)GTC>ATC		transmembrane protein 184A							24.0	31.0	29.0					7																	1595084		2072	4205	6277	SO:0001583	missense	202915					integral to membrane		g.chr7:1595084C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.37G>A	7.37:g.1595084C>T	ENSP00000297477:p.Val13Ile					TMEM184A_uc003skw.3_5'UTR	p.V13I	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	2	354	-		Ovarian(82;0.0253)	13					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.37G>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846851	0.32606	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.46451	1.54;0.87;0.95;0.95;0.95	4.6	-2.28	0.06826	.	1.284690	0.05762	U	0.605015	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22347	-1.0219	10	0.33141	T	0.24	-10.0889	6.4003	0.21634	0.0:0.4002:0.3672:0.2326	.	13	Q6ZMB5	T184A_HUMAN	I	13	ENSP00000297477:V13I;ENSP00000325945:V13I;ENSP00000398382:V13I;ENSP00000389092:V13I;ENSP00000403499:V13I	ENSP00000297477:V13I	V	-	1	0	TMEM184A	1561610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.100000	0.12241	-0.359000	0.07587	GTC		0.677	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		19	32	0	0	0	0	19	32				
TAX1BP1	8887	broad.mit.edu	37	7	27831655	27831655	+	Missense_Mutation	SNP	C	C	T	rs377033381		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:27831655C>T	ENST00000396319.2	+	9	1157	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.R357C|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.R357C|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.R200C|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.R357C	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	357	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAGCAACTTCGTAAAGCAGA	0.388																																						uc003szl.2		NA																	0				breast(1)	1						c.(1069-1071)CGT>TGT		Tax1 (human T-cell leukemia virus type I)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	84.0	80.0	82.0		1069,1069,598,1069	5.6	1.0	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TAX1BP1	NM_001079864.2,NM_001206901.1,NM_001206902.1,NM_006024.6	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	357/748,357/748,200/591,357/790	27831655	1,13005	2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27831655C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1069C>T	7.37:g.27831655C>T	ENSP00000379612:p.Arg357Cys					TAX1BP1_uc011jzo.1_Missense_Mutation_p.R357C|TAX1BP1_uc003szk.2_Missense_Mutation_p.R357C|TAX1BP1_uc011jzp.1_Missense_Mutation_p.R200C	p.R357C	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		9	1227	+			357			Oligomerization.|Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1069C>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144939	0.77888	0.0	1.16E-4	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000048	T	0.48732	0.1516	M	0.75615	2.305	0.80722	D	1	D;D;D	0.71674	0.977;0.998;0.974	P;D;P	0.66602	0.672;0.945;0.687	T	0.46748	-0.9169	10	0.87932	D	0	-14.5806	20.02	0.97489	0.0:1.0:0.0:0.0	.	200;357;357	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	C	357;357;357;200;357	ENSP00000444811:R357C;ENSP00000265393:R357C;ENSP00000386515:R357C;ENSP00000391907:R200C;ENSP00000379612:R357C	ENSP00000265393:R357C	R	+	1	0	TAX1BP1	27798180	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.820000	0.55693	2.809000	0.96659	0.557000	0.71058	CGT		0.388	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		14	30	0	0	0	0	14	30				
KIAA1549	57670	broad.mit.edu	37	7	138591668	138591668	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:138591668C>T	ENST00000422774.1	-	6	3505	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E1153K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1103K			Q9HCM3	K1549_HUMAN	KIAA1549	1153						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTCACGCTCTGCGATCTGC	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(3457-3459)GAG>AAG		hypothetical protein LOC57670 isoform 1							71.0	71.0	71.0					7																	138591668		2004	4164	6168	SO:0001583	missense	57670					integral to membrane		g.chr7:138591668C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3457G>A	7.37:g.138591668C>T	ENSP00000416040:p.Glu1153Lys					KIAA1549_uc003vuk.3_Missense_Mutation_p.E1103K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E1153K	p.E1153K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			6	3506	-			1153					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3457G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485485	0.84854	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.52983	0.65;0.66;0.64	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75365	-0.3343	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1153;1153	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	1153;1103;1153	ENSP00000406661:E1153K;ENSP00000242365:E1103K;ENSP00000416040:E1153K	ENSP00000242365:E1103K	E	-	1	0	KIAA1549	138242208	1.000000	0.71417	0.932000	0.37286	0.337000	0.28794	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GAG		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			20	31	0	0	0	0	20	31				
AGK	55750	broad.mit.edu	37	7	141315304	141315304	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:141315304C>T	ENST00000355413.4	+	8	717	c.457C>T	c.(457-459)Cca>Tca	p.P153S	AGK_ENST00000535825.1_Missense_Mutation_p.P150S|AGK_ENST00000473247.1_Missense_Mutation_p.P125S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	153	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGATTTATCCCACTGGGAGA	0.443																																						uc003vwi.2		NA																	0				ovary(1)|breast(1)	2						c.(457-459)CCA>TCA		acylglycerol kinase precursor							179.0	183.0	182.0					7																	141315304		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315304C>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.457C>T	7.37:g.141315304C>T	ENSP00000347581:p.Pro153Ser					AGK_uc011krg.1_RNA	p.P153S	NM_018238	NP_060708	Q53H12	AGK_HUMAN			8	628	+	Melanoma(164;0.0171)		153			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.457C>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695544	0.88830	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.69175	-0.38;-0.38;-0.38	5.2	5.2	0.72013	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88952	0.3387	10	0.87932	D	0	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	153	Q53H12	AGK_HUMAN	S	153;125;150	ENSP00000347581:P153S;ENSP00000420776:P125S;ENSP00000444349:P150S	ENSP00000347581:P153S	P	+	1	0	AGK	140961773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.899000	0.69846	2.581000	0.87130	0.591000	0.81541	CCA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		54	112	0	0	0	0	54	112				
ENTPD4	9583	broad.mit.edu	37	8	23290623	23290623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:23290623C>T	ENST00000358689.4	-	13	1902	c.1667G>A	c.(1666-1668)cGg>cAg	p.R556Q	ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R548Q|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	556					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGAAACGCCCCGCCAGTGGGT	0.582																																						uc003xdl.2		NA																	0				ovary(1)|kidney(1)	2						c.(1666-1668)CGG>CAG		ectonucleoside triphosphate diphosphohydrolase 4							51.0	55.0	54.0					8																	23290623		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290623C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1667G>A	8.37:g.23290623C>T	ENSP00000351520:p.Arg556Gln					ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Missense_Mutation_p.R548Q	p.R556Q	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1831	-		Prostate(55;0.114)	556			Lumenal (Potential).		D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1667G>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045801	0.55110	.	.	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.14022	2.54;2.54	5.58	4.7	0.59300	.	0.221437	0.46758	N	0.000268	T	0.12774	0.0310	L	0.48362	1.52	0.49798	D	0.999821	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.06427	-1.0827	10	0.12103	T	0.63	-14.6544	13.5883	0.61944	0.0:0.9234:0.0:0.0766	.	548;556	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	Q	556;548	ENSP00000351520:R556Q;ENSP00000408573:R548Q	ENSP00000351520:R556Q	R	-	2	0	ENTPD4	23346568	0.780000	0.28664	1.000000	0.80357	0.958000	0.62258	1.417000	0.34770	1.329000	0.45376	0.563000	0.77884	CGG		0.582	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		9	15	0	0	0	0	9	15				
DEPTOR	64798	broad.mit.edu	37	8	120977572	120977572	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:120977572C>A	ENST00000286234.5	+	4	656	c.526C>A	c.(526-528)Cag>Aag	p.Q176K	DEPTOR_ENST00000523492.1_Missense_Mutation_p.Q75K	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	176	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CTGGCTGGTTCAGGAAGGTGA	0.562																																						uc003yow.3		NA																	0					0						c.(526-528)CAG>AAG		DEP domain containing 6							103.0	86.0	92.0					8																	120977572		2203	4300	6503	SO:0001583	missense	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977572C>A		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.526C>A	8.37:g.120977572C>A	ENSP00000286234:p.Gln176Lys					DEPDC6_uc011lid.1_Missense_Mutation_p.Q75K	p.Q176K	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	713	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		176			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.526C>A	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384443	0.61845	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.21191	2.02;2.02	5.31	5.31	0.75309	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.39326	1.205	0.80722	D	1	D;P	0.71674	0.998;0.716	D;B	0.71656	0.974;0.194	T	0.03287	-1.1052	10	0.12766	T	0.61	-30.1964	18.9927	0.92800	0.0:1.0:0.0:0.0	.	75;176	E7EV87;Q8TB45	.;DPTOR_HUMAN	K	75;176	ENSP00000430457:Q75K;ENSP00000286234:Q176K	ENSP00000286234:Q176K	Q	+	1	0	DEPTOR	121046753	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.464000	0.53057	2.487000	0.83934	0.655000	0.94253	CAG		0.562	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		12	43	1	0	0.000151284	0.000158192	12	43				
EPPK1	83481	broad.mit.edu	37	8	144941384	144941384	+	Missense_Mutation	SNP	G	G	A	rs571579347		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:144941384G>A	ENST00000525985.1	-	2	6109	c.6038C>T	c.(6037-6039)aCg>aTg	p.T2013M				P58107	EPIPL_HUMAN	epiplakin 1	2013						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACACCCCCCGTGGCCACCTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17688	0.001		0.0	False		,,,				2504	0.0					uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6037-6039)ACG>ATG		epiplakin 1							40.0	45.0	43.0					8																	144941384		2144	4249	6393	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941384G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6038C>T	8.37:g.144941384G>A	ENSP00000436337:p.Thr2013Met						p.T2013M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6051	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2013			Plectin 34.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6038C>T		.	.	.	.	.	.	.	.	.	.	G	15.15	2.748281	0.49257	.	.	ENSG00000227184	ENST00000525985	D	0.82711	-1.64	4.68	3.79	0.43588	.	.	.	.	.	D	0.91375	0.7279	M	0.87381	2.88	0.33603	D	0.6026	D	0.89917	1.0	D	0.97110	1.0	D	0.94249	0.7492	9	0.87932	D	0	.	12.4625	0.55738	0.0:0.1704:0.8296:0.0	.	2013	E9PPU0	.	M	2013	ENSP00000436337:T2013M	ENSP00000436337:T2013M	T	-	2	0	EPPK1	145013372	1.000000	0.71417	0.595000	0.28798	0.010000	0.07245	7.628000	0.83189	1.161000	0.42604	-0.291000	0.09656	ACG		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	18	0	0	0	0	9	18				
JAK2	3717	broad.mit.edu	37	9	5065041	5065041	+	Splice_Site	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:5065041G>A	ENST00000381652.3	+	9	1708		c.e9+1		JAK2_ENST00000544510.1_Splice_Site|JAK2_ENST00000539801.1_Splice_Site	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.?(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GCCCAATTTCGTGAGTAATAC	0.313		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Unknown(1)		ovary(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.e8+1		Janus kinase 2							56.0	54.0	54.0					9																	5065041		2203	4300	6503	SO:0001630	splice_region_variant	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5065041G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1214+1G>A	9.37:g.5065041G>A						JAK2_uc003ziw.2_Splice_Site_p.S405_splice	p.S405_splice	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	8	1327	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						O14636|O75297	Splice_Site	SNP	ENST00000381652.3	37	c.1214_splice	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256021	0.80246	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6185	0.91313	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAK2	5055041	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.459000	0.97638	2.412000	0.81896	0.313000	0.20887	.		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		Intron	11	6	0	0	0	0	11	6				
TMEM8B	51754	broad.mit.edu	37	9	35853517	35853517	+	Missense_Mutation	SNP	C	C	T	rs148540551	byFrequency	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:35853517C>T	ENST00000377991.4	+	14	2114	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	TMEM8B_ENST00000377988.2_Missense_Mutation_p.R367C	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	367					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ACGCAGCGTCCGCCGCCGGCA	0.597													C|||	7	0.00139776	0.0	0.0029	5008	,	,		17277	0.0		0.005	False		,,,				2504	0.0					uc003zym.2		NA																	0				ovary(1)	1						c.(1099-1101)CGC>TGC		transmembrane protein 8B isoform a		C	CYS/ARG,CYS/ARG	2,4096		0,2,2047	37.0	39.0	38.0		1099,1099	5.3	1.0	9	dbSNP_134	38	51,8273		0,51,4111	yes	missense,missense	TMEM8B	NM_001042589.1,NM_001042590.1	180,180	0,53,6158	TT,TC,CC		0.6127,0.0488,0.4267	probably-damaging,probably-damaging	367/473,367/473	35853517	53,12369	2049	4162	6211	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853517C>T	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1099C>T	9.37:g.35853517C>T	ENSP00000367230:p.Arg367Cys					TMEM8B_uc003zyo.2_Missense_Mutation_p.R367C	p.R367C	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN			14	2114	+			367			Cytoplasmic (Potential).		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.1099C>T	CCDS43800.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	28.3	4.912170	0.92178	4.88E-4	0.006127	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.50813	0.73;0.73	5.28	5.28	0.74379	.	.	.	.	.	T	0.57344	0.2047	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.66388	-0.5936	9	0.87932	D	0	.	17.5022	0.87735	0.0:1.0:0.0:0.0	.	367	A6NDV4	TMM8B_HUMAN	C	367	ENSP00000367230:R367C;ENSP00000367227:R367C	ENSP00000367227:R367C	R	+	1	0	TMEM8B	35843517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.468000	0.45102	2.473000	0.83533	0.555000	0.69702	CGC		0.597	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		14	8	0	0	0	0	14	8				
UBQLN1	29979	broad.mit.edu	37	9	86322560	86322560	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:86322560C>T	ENST00000376395.4	-	1	558	c.35G>A	c.(34-36)gGc>gAc	p.G12D	RP11-522I20.3_ENST00000531661.1_RNA|UBQLN1_ENST00000257468.7_Missense_Mutation_p.G12D|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	12					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ATCCTGGGAGCCCGGAGGACC	0.706																																					Melanoma(186;1284 2073 12755 14558 18426)	uc004amv.2		NA																	0					0						c.(34-36)GGC>GAC		ubiquilin 1 isoform 1							5.0	5.0	5.0					9																	86322560		2047	4044	6091	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86322560C>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.35G>A	9.37:g.86322560C>T	ENSP00000365576:p.Gly12Asp					UBQLN1_uc004amw.2_Missense_Mutation_p.G12D|uc004amx.2_5'Flank	p.G12D	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN			1	609	-			12					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.35G>A	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465355	0.43839	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.51817	1.21;0.69	3.78	1.87	0.25490	.	0.398328	0.21464	N	0.074120	T	0.21186	0.0510	N	0.08118	0	0.26544	N	0.974037	B;B	0.30236	0.274;0.18	B;B	0.31016	0.123;0.012	T	0.20940	-1.0260	10	0.12103	T	0.63	-37.6338	5.7732	0.18265	0.1912:0.7036:0.0:0.1053	.	12;12	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	12	ENSP00000365576:G12D;ENSP00000257468:G12D	ENSP00000257468:G12D	G	-	2	0	UBQLN1	85512380	0.998000	0.40836	0.980000	0.43619	0.831000	0.47069	2.286000	0.43496	0.360000	0.24265	-0.314000	0.08810	GGC		0.706	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		4	2	0	0	0	0	4	2				
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2		NA																	0					0						c.(1090-1092)GAA>AAA		nuclear factor, interleukin 3 regulated							159.0	152.0	155.0					9																	94171927		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94171927C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1090G>A	9.37:g.94171927C>T	ENSP00000297689:p.Glu364Lys						p.E364K	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	1485	-			364					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.1090G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421835	0.43020	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	4.97	0.65823	Vertebrate interleukin-3 regulated transcription factor (1);	0.446939	0.21451	N	0.074332	T	0.36991	0.0987	L	0.44542	1.39	0.22666	N	0.998876	P	0.41159	0.74	B	0.38327	0.271	T	0.40232	-0.9574	9	0.59425	D	0.04	-8.455	14.0725	0.64868	0.0:0.8495:0.1505:0.0	rs34945709	364	Q16649	NFIL3_HUMAN	K	364	.	ENSP00000297689:E364K	E	-	1	0	NFIL3	93211748	0.998000	0.40836	0.034000	0.17996	0.743000	0.42351	2.886000	0.48578	2.594000	0.87642	0.561000	0.74099	GAA		0.408	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		38	89	0	0	0	0	38	89				
ATRX	546	broad.mit.edu	37	X	76890120	76890120	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:76890120G>A	ENST00000373344.5	-	17	4988	c.4774C>T	c.(4774-4776)Ctt>Ttt	p.L1592F	ATRX_ENST00000395603.3_Missense_Mutation_p.L1554F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1592	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGTGGGCAAGAATGCATCCT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4774-4776)CTT>TTT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						175.0	171.0	172.0					X																	76890120		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890120G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4774C>T	X.37:g.76890120G>A	ENSP00000362441:p.Leu1592Phe					ATRX_uc004ecq.3_Missense_Mutation_p.L1554F|ATRX_uc004eco.3_Missense_Mutation_p.L1377F	p.L1592F	NM_000489	NP_000480	P46100	ATRX_HUMAN			17	5006	-			1592			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4774C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217766	0.58560	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.97575	-4.44;-4.44	5.77	5.77	0.91146	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000006	D	0.99133	0.9701	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98829	1.0750	10	0.72032	D	0.01	-5.2087	12.3215	0.54987	0.079:0.0:0.921:0.0	.	1554;1592	P46100-4;P46100	.;ATRX_HUMAN	F	1592;1554	ENSP00000362441:L1592F;ENSP00000378967:L1554F	ENSP00000362441:L1592F	L	-	1	0	ATRX	76776776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.442000	0.73443	2.414000	0.81942	0.600000	0.82982	CTT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		52	21	0	0	0	0	52	21				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						uc001dfy.3		NA																	0				ovary(2)	2						c.(730-735)AAACAGfs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_uc001dfz.3_RNA	p.K244fs	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			5	924_925	-			244_245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	47	NA	NA	NA	NA	9	47	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69257045	69257046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:69257045_69257046insT	ENST00000439696.2	-	2	522_523	c.221_222insA	c.(220-222)gagfs	p.E74fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.E74fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	74					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGGCTGGCTCACCCTTGAG	0.698											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NA																	0				ovary(1)	1						c.(220-222)GAGfs		butyrate response factor 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257045_69257046insT	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.222dupA	14.37:g.69257046_69257046dupT	ENSP00000388402:p.Glu74fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.E74fs	p.E74fs	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	351_352	-			74					Q13851	Frame_Shift_Ins	INS	ENST00000439696.2	37	c.221_222insA	CCDS9791.1																																																																																				0.698	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			10	18	NA	NA	NA	NA	10	18	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63605643	63605645	+	Splice_Site	DEL	TGC	TGC	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:63605643_63605645delTGC	ENST00000272321.7	-	12	2152_2153	c.1625_1626delGCA	c.(1624-1626)ggc>g	p.G542del	WDPCP_ENST00000409120.1_Splice_Site_p.G350del|WDPCP_ENST00000409562.3_Splice_Site_p.G542del|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Splice_Site_p.G383del|WDPCP_ENST00000409199.1_Splice_Site_p.G350del	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	542					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCTCAAGCTGTGCTGTGGAATTC	0.394																																						uc002sch.2		NA																	0					0						c.e12-1		hypothetical protein LOC51057 isoform 2																																				SO:0001630	splice_region_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63605643_63605645delTGC		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1625-1GCA>-	2.37:g.63605643_63605645delTGC						C2orf86_uc002sce.2_Splice_Site|C2orf86_uc002scf.2_Splice_Site_p.A383_splice|C2orf86_uc010ypu.1_Splice_Site|C2orf86_uc002scg.2_Splice_Site_p.A350_splice|C2orf86_uc002sci.1_Splice_Site_p.A518_splice	p.A542_splice	NM_015910	NP_056994	O95876	FRITZ_HUMAN			12	2071	-								Q53RW4|Q7Z2Z3	Splice_Site	DEL	ENST00000272321.7	37	c.1625_splice	CCDS42688.1																																																																																				0.394	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	In_Frame_Del	26	42	NA	NA	NA	NA	26	42	---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91967721	91967721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:91967721delG	ENST00000417640.2	+	13	1374	c.1037delG	c.(1036-1038)tggfs	p.W347fs	NECAB1_ENST00000522820.1_Frame_Shift_Del_p.W96fs|NECAB1_ENST00000521366.1_Frame_Shift_Del_p.W96fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	347						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAGCTTCGTGGTGGATCCTG	0.338																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(1036-1038)TGGfs		N-terminal EF-hand calcium binding protein 1							84.0	75.0	78.0					8																	91967721		1818	4067	5885	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91967721delG	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.1037delG	8.37:g.91967721delG	ENSP00000387380:p.Trp347fs					NECAB1_uc003yer.2_Frame_Shift_Del_p.W95fs	p.W346fs	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		13	1231	+			346					Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.1037delG	CCDS47889.1																																																																																				0.338	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4	NA	NA	NA	NA	2	4	---	---	---	---
