#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSBG2	81616	genome.wustl.edu	37	19	6147661	6147661	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:6147661G>A	ENST00000586696.1	+	3	548	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.R41Q|ACSBG2_ENST00000591403.1_Missense_Mutation_p.R91Q|ACSBG2_ENST00000252669.5_Missense_Mutation_p.R91Q			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	91					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGCTTGTCGGAAGGCTGCA	0.408																																						dbGAP											0													108.0	113.0	112.0					19																	6147661		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.272G>A	19.37:g.6147661G>A	ENSP00000465589:p.Arg91Gln		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R91Q	ENST00000586696.1	37	c.272	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751591	0.49257	.	.	ENSG00000130377	ENST00000252669	T	0.41758	0.99	5.79	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.359807	0.20545	N	0.090240	T	0.62648	0.2445	M	0.78285	2.405	0.46774	D	0.999191	B;D	0.64830	0.325;0.994	B;D	0.64776	0.228;0.929	T	0.65236	-0.6217	10	0.52906	T	0.07	-45.6197	12.9332	0.58299	0.0782:0.0:0.9218:0.0	.	91;91	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	Q	91	ENSP00000252669:R91Q	ENSP00000252669:R91Q	R	+	2	0	ACSBG2	6098661	1.000000	0.71417	0.795000	0.32087	0.079000	0.17450	5.538000	0.67193	1.462000	0.47948	-0.126000	0.14955	CGG	ACSBG2	-	pfam_AMP-dep_Synth/Lig	ENSG00000130377		0.408	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	351	0.28	1	G	NM_030924		6147661	6147661	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	missense	268	39.37	174	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109815203	109815203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr6:109815203delA	ENST00000424296.2	-	40	5590	c.5514delT	c.(5512-5514)tatfs	p.Y1838fs	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1838					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GAAGTGCTATATATAGCAGTG	0.333																																						dbGAP											0													64.0	67.0	66.0					6																	109815203		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5514delT	6.37:g.109815203delA	ENSP00000410186:p.Tyr1838fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.Y1838fs	ENST00000424296.2	37	c.5514	CCDS55048.1	6																																																																																			AKD1	-	NULL	ENSG00000155085		0.333	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		128	0.00	0	A	NM_001145128		109815203	109815203	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	frame_shift_del	223	13.74	36	DEL	0.078	-
ANK2	287	genome.wustl.edu	37	4	114277716	114277716	+	Missense_Mutation	SNP	G	G	C	rs199828363		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr4:114277716G>C	ENST00000357077.4	+	38	7995	c.7942G>C	c.(7942-7944)Ggt>Cgt	p.G2648R	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2615R|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2648					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGATGAAAGTGGTGTCCCTGT	0.473																																						dbGAP											0													148.0	150.0	150.0					4																	114277716		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7942G>C	4.37:g.114277716G>C	ENSP00000349588:p.Gly2648Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G2648R	ENST00000357077.4	37	c.7942	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	3.494	-0.103239	0.06967	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65916	-0.16;-0.18	5.6	2.01	0.26516	.	1.297890	0.05295	N	0.521824	T	0.39759	0.1090	N	0.08118	0	0.09310	N	1	B;B	0.18461	0.028;0.001	B;B	0.16289	0.015;0.001	T	0.21999	-1.0229	9	.	.	.	.	5.557	0.17121	0.1954:0.0:0.5642:0.2404	.	2615;2648	Q01484;Q01484-4	ANK2_HUMAN;.	R	2648;2615	ENSP00000349588:G2648R;ENSP00000264366:G2615R	.	G	+	1	0	ANK2	114497165	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.017000	0.12590	0.059000	0.16252	-0.825000	0.03093	GGT	ANK2	-	NULL	ENSG00000145362		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	391	0.00	0	G	NM_001148		114277716	114277716	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	270	26.63	98	SNP	0.000	C
ATG14	22863	genome.wustl.edu	37	14	55836555	55836555	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr14:55836555C>T	ENST00000247178.5	-	10	1296	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	421	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						ACGCGCTCATCTCCGCTCTCA	0.547																																						dbGAP											0													99.0	93.0	95.0					14																	55836555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1261G>A	14.37:g.55836555C>T	ENSP00000247178:p.Asp421Asn		A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	pfam_UV_resistance/autophagy_Atg14	p.D421N	ENST00000247178.5	37	c.1261	CCDS32087.1	14	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208095	0.79240	.	.	ENSG00000126775	ENST00000247178	T	0.36878	1.23	5.76	5.76	0.90799	.	0.048878	0.85682	D	0.000000	T	0.40171	0.1106	L	0.43152	1.355	0.80722	D	1	P	0.40970	0.734	B	0.42798	0.398	T	0.09552	-1.0669	10	0.42905	T	0.14	-24.4214	19.9788	0.97318	0.0:1.0:0.0:0.0	.	421	Q6ZNE5	BAKOR_HUMAN	N	421	ENSP00000247178:D421N	ENSP00000247178:D421N	D	-	1	0	ATG14	54906308	1.000000	0.71417	0.997000	0.53966	0.133000	0.20885	7.796000	0.85898	2.719000	0.93026	0.555000	0.69702	GAT	ATG14	-	NULL	ENSG00000126775		0.547	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG14	HGNC	protein_coding	OTTHUMT00000416992.1	208	0.00	0	C	NM_014924		55836555	55836555	-1	no_errors	ENST00000247178	ensembl	human	known	69_37n	missense	168	46.84	148	SNP	1.000	T
ATP11A	23250	genome.wustl.edu	37	13	113516786	113516786	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr13:113516786G>A	ENST00000487903.1	+	25	2976	c.2888G>A	c.(2887-2889)cGc>cAc	p.R963H	ATP11A_ENST00000375645.3_Missense_Mutation_p.R963H|ATP11A_ENST00000283558.8_Missense_Mutation_p.R963H|ATP11A_ENST00000375630.2_Missense_Mutation_p.R963H			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	963					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R963H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCGCTGGCGCGTGTTCATC	0.567																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											157.0	119.0	132.0					13																	113516786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2888G>A	13.37:g.113516786G>A	ENSP00000420387:p.Arg963His		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R963H	ENST00000487903.1	37	c.2888	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131012	0.56828	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.21	5.21	0.72293	.	0.057810	0.64402	D	0.000001	T	0.53384	0.1793	M	0.66939	2.045	0.46654	D	0.999142	D;P	0.53745	0.962;0.932	B;P	0.49361	0.416;0.608	T	0.56456	-0.7976	10	0.48119	T	0.1	.	18.774	0.91902	0.0:0.0:1.0:0.0	.	963;963	E9PEJ6;P98196	.;AT11A_HUMAN	H	963	ENSP00000420387:R963H;ENSP00000364781:R963H;ENSP00000364796:R963H;ENSP00000283558:R963H	ENSP00000283558:R963H	R	+	2	0	ATP11A	112564787	1.000000	0.71417	0.952000	0.39060	0.114000	0.19823	5.365000	0.66116	2.415000	0.81967	0.561000	0.74099	CGC	ATP11A	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000068650		0.567	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	15	0.00	0	G	NM_015205		113516786	113516786	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	0.998	A
BTF3L4	91408	genome.wustl.edu	37	1	52530605	52530605	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr1:52530605G>A	ENST00000313334.8	+	3	431	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	BTF3L4_ENST00000533836.1_3'UTR|BTF3L4_ENST00000489308.2_Missense_Mutation_p.E55K|BTF3L4_ENST00000484036.1_Missense_Mutation_p.E55K|BTF3L4_ENST00000472944.2_5'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	55	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.									endometrium(2)|kidney(1)|large_intestine(2)	5						AGCTGGTATTGAAGAGGTATG	0.363																																						dbGAP											0													60.0	61.0	61.0					1																	52530605		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.163G>A	1.37:g.52530605G>A	ENSP00000360664:p.Glu55Lys		B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.E55K	ENST00000313334.8	37	c.163	CCDS30713.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240603	0.79912	.	.	ENSG00000134717	ENST00000313334;ENST00000489308;ENST00000484036	.	.	.	5.46	4.55	0.56014	Nascent polypeptide-associated complex NAC (2);	0.000000	0.85682	D	0.000000	T	0.74906	0.3778	M	0.81614	2.55	0.80722	D	1	B	0.28350	0.208	B	0.40375	0.327	T	0.77313	-0.2634	9	0.87932	D	0	.	14.4497	0.67376	0.0711:0.0:0.9289:0.0	.	55	Q96K17	BT3L4_HUMAN	K	55	.	ENSP00000360664:E55K	E	+	1	0	BTF3L4	52303193	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.793000	0.99091	1.445000	0.47624	-0.218000	0.12543	GAA	BTF3L4	-	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	ENSG00000134717		0.363	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTF3L4	HGNC	protein_coding	OTTHUMT00000024848.1	74	0.00	0	G	NM_152265		52530605	52530605	+1	no_errors	ENST00000313334	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	A
C4orf51	646603	genome.wustl.edu	37	4	146650349	146650350	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr4:146650349_146650350insT	ENST00000438731.1	+	4	395_396	c.395_396insT	c.(394-399)tgttttfs	p.CF132fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	132										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TTTGGTGATTGTTTTCCGACAC	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.399dupT	4.37:g.146650353_146650353dupT	ENSP00000391404:p.Cys132fs			Frame_Shift_Ins	INS	NULL	p.P134fs	ENST00000438731.1	37	c.395_396	CCDS47140.1	4																																																																																			C4orf51	-	NULL	ENSG00000237136		0.317	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf51	HGNC	protein_coding		74	0.00	0	-	NM_001080531		146650349	146650350	+1	no_errors	ENST00000438731	ensembl	human	known	69_37n	frame_shift_ins	44	21.43	12	INS	0.000:0.002	T
CADPS2	93664	genome.wustl.edu	37	7	122269330	122269330	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr7:122269330C>G	ENST00000449022.2	-	4	858	c.839G>C	c.(838-840)cGg>cCg	p.R280P	CADPS2_ENST00000412584.2_Missense_Mutation_p.R280P|CADPS2_ENST00000313070.7_Missense_Mutation_p.R280P|CADPS2_ENST00000334010.7_Missense_Mutation_p.R280P	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	280					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAATTGCAGCCGGCCATCAAG	0.358																																						dbGAP											0													61.0	60.0	60.0					7																	122269330		1856	4091	5947	-	-	-	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.839G>C	7.37:g.122269330C>G	ENSP00000398481:p.Arg280Pro		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R280P	ENST00000449022.2	37	c.839	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929473	0.92389	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.59772	0.24;0.25;0.24;0.25	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	T	0.81433	-0.0935	10	0.87932	D	0	-10.5162	19.2354	0.93856	0.0:1.0:0.0:0.0	.	280;280	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	P	280;280;280;247;280;280	ENSP00000325581:R280P;ENSP00000333940:R280P;ENSP00000400401:R280P;ENSP00000398481:R280P	ENSP00000325581:R280P	R	-	2	0	CADPS2	122056566	1.000000	0.71417	0.909000	0.35828	0.922000	0.55478	7.772000	0.85439	2.551000	0.86045	0.563000	0.77884	CGG	CADPS2	-	NULL	ENSG00000081803		0.358	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	64	0.00	0	C	NM_017954		122269330	122269330	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	missense	50	48.98	48	SNP	0.999	G
CYP11A1	1583	genome.wustl.edu	37	15	74628287	74628287	+	IGR	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr15:74628287G>A	ENST00000268053.6	-	0	1934				CCDC33_ENST00000398814.3_Missense_Mutation_p.D721N|CCDC33_ENST00000558821.1_3'UTR|CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000321288.5_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CCACTCCATGGACCTCAAGCA	0.602																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	dbGAP											0													70.0	76.0	74.0					15																	74628287		2033	4186	6219	-	-	-	SO:0001628	intergenic_variant	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74628287G>A			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D721N	ENST00000268053.6	37	c.2161	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	G	2.733	-0.264016	0.05754	.	.	ENSG00000140481	ENST00000398814	T	0.19669	2.13	3.67	0.649	0.17806	.	.	.	.	.	T	0.11110	0.0271	N	0.22421	0.69	0.18873	N	0.999986	B	0.19935	0.04	B	0.19666	0.026	T	0.40664	-0.9551	9	0.10377	T	0.69	.	6.2422	0.20797	0.3348:0.0:0.6652:0.0	.	721	Q8N5R6-6	.	N	721	ENSP00000381795:D721N	ENSP00000381795:D721N	D	+	1	0	CCDC33	72415340	0.741000	0.28217	0.076000	0.20297	0.129000	0.20672	0.362000	0.20284	0.158000	0.19367	0.643000	0.83706	GAC	CCDC33	-	NULL	ENSG00000140481		0.602	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000319737.1	96	0.00	0	G			74628287	74628287	+1	no_errors	ENST00000398814	ensembl	human	known	69_37n	missense	10	81.82	45	SNP	0.091	A
CDH9	1007	genome.wustl.edu	37	5	26881732	26881732	+	Splice_Site	SNP	A	A	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:26881732A>T	ENST00000231021.4	-	12	2055	c.1883T>A	c.(1882-1884)aTt>aAt	p.I628N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	628					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACGACTAAAACTATTAATAA	0.363																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													32.0	36.0	35.0					5																	26881732		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1883-1T>A	5.37:g.26881732A>T			Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I628N	ENST00000231021.4	37	c.1883	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	9.634	1.137075	0.21123	.	.	ENSG00000113100	ENST00000231021	T	0.57595	0.39	4.96	3.21	0.36854	.	0.498237	0.25405	N	0.030913	T	0.40272	0.1110	L	0.46157	1.445	0.35784	D	0.821872	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34601	-0.9822	9	.	.	.	.	6.6775	0.23102	0.7416:0.0:0.2584:0.0	.	221;628	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	628	ENSP00000231021:I628N	.	I	-	2	0	CDH9	26917489	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	5.133000	0.64764	0.505000	0.28104	0.455000	0.32223	ATT	CDH9	-	NULL	ENSG00000113100		0.363	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	176	0.00	0	A	NM_016279	Missense_Mutation	26881732	26881732	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	154	21.83	43	SNP	1.000	T
CHSY3	337876	genome.wustl.edu	37	5	129243939	129243939	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:129243939G>T	ENST00000305031.4	+	2	1330	c.972G>T	c.(970-972)agG>agT	p.R324S	CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	324					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTCTCAGGAGGATGGTGCCAC	0.498																																						dbGAP											0													158.0	133.0	141.0					5																	129243939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.972G>T	5.37:g.129243939G>T	ENSP00000302629:p.Arg324Ser		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R324S	ENST00000305031.4	37	c.972	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657321	0.67586	.	.	ENSG00000198108	ENST00000305031	D	0.85088	-1.94	4.33	1.57	0.23409	.	0.186855	0.25668	N	0.029100	D	0.88179	0.6367	M	0.90977	3.165	0.46901	D	0.999242	P	0.47409	0.895	P	0.48488	0.579	D	0.85663	0.1290	9	.	.	.	.	5.9363	0.19167	0.2261:0.0:0.6379:0.1359	.	324	Q70JA7	CHSS3_HUMAN	S	324	ENSP00000302629:R324S	.	R	+	3	2	CHSY3	129271838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.633000	0.24598	0.338000	0.23692	0.591000	0.81541	AGG	CHSY3	-	pfam_Fringe-like	ENSG00000198108		0.498	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	40	0.00	0	G	NM_175856		129243939	129243939	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	T
CLEC16A	23274	genome.wustl.edu	37	16	11154764	11154764	+	Silent	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr16:11154764C>T	ENST00000409790.1	+	19	2231	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	CLEC16A_ENST00000409552.3_Silent_p.I649I|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCCAGGCCATCCGGGTGTTCT	0.532																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											194.0	211.0	205.0					16																	11154764		2172	4283	6455	-	-	-	SO:0001819	synonymous_variant	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2001C>T	16.37:g.11154764C>T				Silent	SNP	pfam_Uncharacterised_FPL	p.I667	ENST00000409790.1	37	c.2001	CCDS45409.1	16																																																																																			CLEC16A	-	NULL	ENSG00000038532		0.532	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	210	0.00	0	C	NM_015226		11154764	11154764	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	silent	105	46.19	91	SNP	1.000	T
CLN3	1201	genome.wustl.edu	37	16	28493476	28493476	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr16:28493476A>G	ENST00000569430.1	-	15	1825	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357076.5_Missense_Mutation_p.S226P|CLN3_ENST00000354630.5_Missense_Mutation_p.S319P|CLN3_ENST00000359984.7_Missense_Mutation_p.S336P|CLN3_ENST00000333496.9_Missense_Mutation_p.S312P|CLN3_ENST00000565316.1_Missense_Mutation_p.S319P|CLN3_ENST00000360019.2_Missense_Mutation_p.S336P|CLN3_ENST00000355477.5_Missense_Mutation_p.S288P|CLN3_ENST00000395653.4_Missense_Mutation_p.S236P|CLN3_ENST00000535392.1_Missense_Mutation_p.S258P|CLN3_ENST00000357806.7_Missense_Mutation_p.S237P|CLN3_ENST00000568224.1_Missense_Mutation_p.S258P|CLN3_ENST00000357857.9_Missense_Mutation_p.S282P			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	336					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CAGCGGAGAGAAGAGCGGGAG	0.647																																						dbGAP											0													45.0	42.0	43.0					16																	28493476		2197	4300	6497	-	-	-	SO:0001583	missense	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1006T>C	16.37:g.28493476A>G	ENSP00000454229:p.Ser336Pro		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.S336P	ENST00000569430.1	37	c.1006	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	a	23.4	4.407385	0.83230	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.95205	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;-3.64	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.93550	3.43	0.34446	D	0.700112	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;0.999;0.999;1.0;1.0	D	0.99978	1.2316	10	0.72032	D	0.01	-14.3563	13.3956	0.60851	1.0:0.0:0.0:0.0	.	312;319;234;236;282;288;336;237	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	P	258;336;336;319;288;282;236;237;226	ENSP00000443221:S258P;ENSP00000353073:S336P;ENSP00000353116:S336P;ENSP00000346650:S319P;ENSP00000347660:S288P;ENSP00000350523:S282P;ENSP00000379014:S236P;ENSP00000350457:S237P;ENSP00000349586:S226P	ENSP00000346650:S319P	S	-	1	0	CLN3	28400977	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.452000	0.80683	2.060000	0.61445	0.398000	0.26397	TCT	CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	ENSG00000188603		0.647	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	18	0.00	0	A			28493476	28493476	-1	no_errors	ENST00000359984	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	G
CRNN	49860	genome.wustl.edu	37	1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	rs150002541		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602																																						dbGAP											0													130.0	96.0	108.0					1																	152382287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1271G>A	1.37:g.152382287C>T	ENSP00000271835:p.Arg424His		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R424H	ENST00000271835.3	37	c.1271	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566464	0.03910	.	.	ENSG00000143536	ENST00000271835	T	0.04360	3.64	3.21	7.04E-4	0.14043	.	1.038600	0.07643	N	0.930585	T	0.00875	0.0029	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48937	-0.8990	10	0.15499	T	0.54	.	5.2824	0.15682	0.0:0.5968:0.1715:0.2317	.	424	Q9UBG3	CRNN_HUMAN	H	424	ENSP00000271835:R424H	ENSP00000271835:R424H	R	-	2	0	CRNN	150648911	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.599000	0.05700	-0.567000	0.06046	-1.318000	0.01297	CGC	CRNN	-	NULL	ENSG00000143536		0.602	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	201	0.00	0	C	NM_016190		152382287	152382287	-1	no_errors	ENST00000271835	ensembl	human	known	69_37n	missense	232	29.91	99	SNP	0.001	T
DAPK1	1612	genome.wustl.edu	37	9	90256921	90256921	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr9:90256921C>G	ENST00000408954.3	+	10	1201	c.866C>G	c.(865-867)tCa>tGa	p.S289*	DAPK1_ENST00000491893.1_Nonsense_Mutation_p.S289*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.S289*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.S289*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.S289*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	289	Calmodulin-binding.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGAAAAGCATCAGCAGTAAAC	0.323									Chronic Lymphocytic Leukemia, Familial Clustering of																													dbGAP											0													117.0	108.0	111.0					9																	90256921		1824	4075	5899	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.866C>G	9.37:g.90256921C>G	ENSP00000386135:p.Ser289*		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.S289*	ENST00000408954.3	37	c.866	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.368955	0.98241	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.87	4.98	0.66077	.	0.000000	0.47093	D	0.000242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5374	0.76013	0.0:0.9336:0.0:0.0664	.	.	.	.	X	289	.	ENSP00000350785:S289X	S	+	2	0	DAPK1	89446741	1.000000	0.71417	0.182000	0.23118	0.990000	0.78478	7.713000	0.84693	1.626000	0.50381	0.655000	0.94253	TCA	DAPK1	-	superfamily_Kinase-like_dom	ENSG00000196730		0.323	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	281	0.00	0	C	NM_004938		90256921	90256921	+1	no_errors	ENST00000469640	ensembl	human	known	69_37n	nonsense	171	33.85	88	SNP	0.997	G
DLGAP3	58512	genome.wustl.edu	37	1	35332720	35332720	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr1:35332720C>T	ENST00000373347.1	-	11	2918	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	DLGAP3_ENST00000235180.4_Missense_Mutation_p.E884K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	884					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTCACATCCTCGATGGAGAGC	0.582											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													113.0	115.0	114.0					1																	35332720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2650G>A	1.37:g.35332720C>T	ENSP00000362444:p.Glu884Lys	854	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.E884K	ENST00000373347.1	37	c.2650	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.636626	0.96693	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.31247	1.5;1.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	M	0.78223	2.4	0.80722	D	1	P	0.51933	0.949	P	0.51266	0.664	T	0.57057	-0.7876	10	0.87932	D	0	-20.3554	17.931	0.88998	0.0:1.0:0.0:0.0	.	884	O95886	DLGP3_HUMAN	K	884;884;222	ENSP00000362444:E884K;ENSP00000235180:E884K	ENSP00000235180:E884K	E	-	1	0	DLGAP3	35105307	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.651000	0.83577	2.546000	0.85860	0.650000	0.86243	GAG	DLGAP3	-	pfam_GKAP	ENSG00000116544		0.582	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	50	0.00	0	C	NM_021234		35332720	35332720	-1	no_errors	ENST00000235180	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	21156695	21156695	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr16:21156695C>A	ENST00000261383.3	-	3	254	c.255G>T	c.(253-255)ttG>ttT	p.L85F	DNAH3_ENST00000415178.1_Missense_Mutation_p.L85F|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	85	Stem. {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)		TGCGTTGCATCAAGGGCGGGT	0.527																																						dbGAP											0													152.0	119.0	130.0					16																	21156695		2201	4300	6501	-	-	-	SO:0001583	missense	0			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.255G>T	16.37:g.21156695C>A	ENSP00000261383:p.Leu85Phe		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.L85F	ENST00000261383.3	37	c.255	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443002	0.63067	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.31510	1.49;1.54	5.81	2.79	0.32731	.	0.000000	0.48767	D	0.000172	T	0.39436	0.1078	L	0.36672	1.1	0.37732	D	0.925316	D;D	0.76494	0.995;0.999	P;D	0.74674	0.796;0.984	T	0.36529	-0.9744	10	0.72032	D	0.01	.	7.2423	0.26104	0.0:0.7013:0.1423:0.1563	.	85;56	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	F	85;85;56	ENSP00000261383:L85F;ENSP00000394245:L85F	ENSP00000261383:L85F	L	-	3	2	DNAH3	21064196	0.977000	0.34250	0.981000	0.43875	0.642000	0.38348	0.098000	0.15189	0.790000	0.33803	0.655000	0.94253	TTG	DNAH3	-	NULL	ENSG00000158486		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	47	0.00	0	C	NM_017539		21156695	21156695	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	37	56.47	48	SNP	0.997	A
DOT1L	84444	genome.wustl.edu	37	19	2185865	2185865	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:2185865A>G	ENST00000398665.3	+	3	173	c.137A>G	c.(136-138)gAa>gGa	p.E46G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	46	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTCTGTGAAGAAATCCCG	0.418																																						dbGAP											0													345.0	358.0	354.0					19																	2185865		1909	4119	6028	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.137A>G	19.37:g.2185865A>G	ENSP00000381657:p.Glu46Gly		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.E46G	ENST00000398665.3	37	c.137	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484460	0.63962	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.24151	1.87;1.87	4.68	4.68	0.58851	.	0.122142	0.53938	D	0.000051	T	0.49201	0.1543	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.53479	-0.8433	10	0.87932	D	0	-6.3257	13.4607	0.61225	1.0:0.0:0.0:0.0	.	46	Q8TEK3-2	.	G	46	ENSP00000381657:E46G;ENSP00000404284:E46G	ENSP00000221482:E46G	E	+	2	0	DOT1L	2136865	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.239000	0.89811	1.959000	0.56917	0.460000	0.39030	GAA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.418	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	414	0.00	0	A	NM_032482		2185865	2185865	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	162	39.78	107	SNP	1.000	G
DSG3	1830	genome.wustl.edu	37	18	29054365	29054365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr18:29054365C>T	ENST00000257189.4	+	15	2466	c.2383C>T	c.(2383-2385)Cag>Tag	p.Q795*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	795					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTACTTTTCTCAGGTAATTTG	0.368																																						dbGAP											0													124.0	130.0	128.0					18																	29054365		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2383C>T	18.37:g.29054365C>T	ENSP00000257189:p.Gln795*		A8K2V2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.Q795*	ENST00000257189.4	37	c.2383	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.765769	0.98477	.	.	ENSG00000134757	ENST00000257189	.	.	.	6.06	6.06	0.98353	.	0.000000	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.3355	0.66586	0.0:0.8104:0.1896:0.0	.	.	.	.	X	795	.	ENSP00000257189:Q795X	Q	+	1	0	DSG3	27308363	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.427000	0.52785	2.879000	0.98667	0.650000	0.86243	CAG	DSG3	-	prints_Desmoglein	ENSG00000134757		0.368	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	177	0.00	0	C	NM_001944		29054365	29054365	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	nonsense	95	21.49	26	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103270428	103270429	+	Frame_Shift_Ins	INS	-	-	CGAT			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr11:103270428_103270429insCGAT	ENST00000375735.2	+	84	12338_12339	c.12194_12195insCGAT	c.(12193-12198)aacgatfs	p.-4067fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Ins_p.-4074fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTCCTCCTAACGATCGACAAG	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12195_12198dupCGAT	11.37:g.103270429_103270432dupCGAT	ENSP00000364887:p.Arg4067fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q4075fs	ENST00000375735.2	37	c.12215_12216	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy	ENSG00000187240		0.356	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	55	0.00	0	-	XM_370652		103270428	103270429	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	frame_shift_ins	92	28.68	37	INS	0.961:0.957	CGAT
ERBB2IP	55914	genome.wustl.edu	37	5	65370887	65370887	+	Silent	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:65370887C>G	ENST00000284037.5	+	23	4181	c.3792C>G	c.(3790-3792)ctC>ctG	p.L1264L	ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Silent_p.L1223L|ERBB2IP_ENST00000511297.1_Silent_p.L1219L|ERBB2IP_ENST00000380938.2_Silent_p.L1223L|ERBB2IP_ENST00000506030.1_Silent_p.L1271L|ERBB2IP_ENST00000380943.2_Silent_p.L1223L|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380939.2_Silent_p.L1223L|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Silent_p.L462L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1264					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GCCAGCCTCTCAGGCCTCAGG	0.388																																						dbGAP											0													73.0	77.0	75.0					5																	65370887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3792C>G	5.37:g.65370887C>G			A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L1264	ENST00000284037.5	37	c.3792	CCDS58953.1	5																																																																																			ERBB2IP	-	NULL	ENSG00000112851		0.388	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	300	0.00	0	C	NM_018695		65370887	65370887	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	silent	194	27.61	74	SNP	1.000	G
ESAM	90952	genome.wustl.edu	37	11	124628269	124628269	+	Silent	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr11:124628269G>A	ENST00000278927.5	-	2	354	c.225C>T	c.(223-225)ttC>ttT	p.F75F	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	75	Ig-like V-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CTTTCTGTTTGAAGAACCACA	0.582											OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													96.0	81.0	86.0					11																	124628269		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.225C>T	11.37:g.124628269G>A		1535	B4DVN8|Q96T50	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F75	ENST00000278927.5	37	c.225	CCDS8453.1	11																																																																																			ESAM	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000149564		0.582	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESAM	HGNC	protein_coding	OTTHUMT00000324686.1	30	0.00	0	G	NM_138961		124628269	124628269	-1	no_errors	ENST00000278927	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.065	A
ESD	2098	genome.wustl.edu	37	13	47354111	47354112	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr13:47354111_47354112insT	ENST00000378720.3	-	8	740_741	c.558_559insA	c.(556-561)aaagccfs	p.A187fs	ESD_ENST00000378697.1_Frame_Shift_Ins_p.A158fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	187					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CCACTAAAGGCTTTTTTGCCCC	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.559dupA	13.37:g.47354117_47354117dupT	ENSP00000367992:p.Ala187fs		Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Ins	INS	pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol	p.A186fs	ENST00000378720.3	37	c.559_558	CCDS9404.1	13																																																																																			ESD	-	pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol	ENSG00000139684		0.351	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESD	HGNC	protein_coding	OTTHUMT00000044826.1	214	0.00	0	-			47354111	47354112	-1	no_errors	ENST00000378720	ensembl	human	known	69_37n	frame_shift_ins	246	34.75	131	INS	1.000:1.000	T
FAM13B	51306	genome.wustl.edu	37	5	137354686	137354686	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:137354686G>A	ENST00000033079.3	-	3	566	c.115C>T	c.(115-117)Cca>Tca	p.P39S	FAM13B_ENST00000420893.2_Missense_Mutation_p.P39S|FAM13B_ENST00000425075.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	39	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ACTATGAATGGAACCTCATTG	0.423																																						dbGAP											0													109.0	102.0	104.0					5																	137354686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.115C>T	5.37:g.137354686G>A	ENSP00000033079:p.Pro39Ser		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P39S	ENST00000033079.3	37	c.115	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855063	0.91355	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403;ENST00000505961	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.08	6.08	0.98989	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94725	0.7904	10	0.87932	D	0	-5.5148	20.6634	0.99662	0.0:0.0:1.0:0.0	.	39;39	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	S	39	ENSP00000033079:P39S;ENSP00000388521:P39S;ENSP00000425326:P39S;ENSP00000424785:P39S;ENSP00000422311:P39S;ENSP00000426863:P39S;ENSP00000422673:P39S	ENSP00000033079:P39S	P	-	1	0	FAM13B	137382585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.998000	0.93550	2.894000	0.99253	0.655000	0.94253	CCA	FAM13B	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000031003		0.423	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	113	0.00	0	G			137354686	137354686	-1	no_errors	ENST00000033079	ensembl	human	known	69_37n	missense	64	55.24	79	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8161889	8161890	+	Splice_Site	INS	-	-	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:8161889_8161890insG	ENST00000600128.1	-	43	5702_5703	c.5288_5289insC	c.(5287-5289)gat>gaCt	p.D1763fs	FBN3_ENST00000601739.1_Splice_Site_p.D1763fs|FBN3_ENST00000270509.2_Splice_Site_p.D1763fs			Q75N90	FBN3_HUMAN	fibrillin 3	1763	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTCATCGACATCTGGGAAAAT	0.55																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5288-1->C	19.37:g.8161889_8161890insG			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.V1764fs	ENST00000600128.1	37	c.5289_5288	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.550	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	81	0.00	0	-	NM_032447	Frame_Shift_Ins	8161889	8161890	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	78	33.33	39	INS	1.000:1.000	G
FGFR2	2263	genome.wustl.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> H (in CS; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAAGAAGATTTATGATAT	0.423	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	33	Substitution - Missense(33)	endometrium(33)											169.0	151.0	157.0					10																	123258034		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1647T>A	10.37:g.123258034A>T	ENSP00000351276:p.Asn549Lys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N550K	ENST00000358487.5	37	c.1650	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713491	0.68730	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.02	2.67	0.31697	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	N	0.04880	-0.145	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.85769	0.1354	10	0.87932	D	0	.	7.515	0.27596	0.7605:0.0:0.2395:0.0	.	566;548;460;432;549;461;550;452	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	K	460;550;437;549;432;433;435;141;547;550;547;461;550;550;458	ENSP00000350166:N460K;ENSP00000358057:N437K;ENSP00000351276:N549K;ENSP00000348559:N432K;ENSP00000358056:N433K;ENSP00000358055:N435K;ENSP00000404219:N141K;ENSP00000263451:N547K;ENSP00000410294:N550K;ENSP00000309878:N547K;ENSP00000353262:N461K;ENSP00000358052:N550K;ENSP00000358054:N550K;ENSP00000337665:N458K	ENSP00000337665:N458K	N	-	3	2	FGFR2	123248024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	0.269000	0.21961	0.482000	0.46254	AAT	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066468		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	68	0.00	0	A	NM_022976, NM_000141		123258034	123258034	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	37	70.08	89	SNP	1.000	T
FXR2	9513	genome.wustl.edu	37	17	7495184	7495184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr17:7495184delG	ENST00000250113.7	-	17	2320	c.1986delC	c.(1984-1986)cccfs	p.P662fs	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	662						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCAACTCCAAGGGGGCGGAGA	0.557																																						dbGAP											0													39.0	40.0	40.0					17																	7495184		1888	4096	5984	-	-	-	SO:0001589	frameshift_variant	0			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1986delC	17.37:g.7495184delG	ENSP00000250113:p.Pro662fs		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Del	DEL	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.L663fs	ENST00000250113.7	37	c.1986	CCDS45604.1	17																																																																																			FXR2	-	NULL	ENSG00000129245		0.557	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1	37	0.00	0	G			7495184	7495184	-1	no_errors	ENST00000250113	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.977	-
GBF1	8729	genome.wustl.edu	37	10	104135342	104135342	+	Splice_Site	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr10:104135342G>A	ENST00000369983.3	+	30	4143		c.e30+1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTGATGCCGGTAAGCCCTTT	0.557																																						dbGAP											0													39.0	36.0	37.0					10																	104135342		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3883+1G>A	10.37:g.104135342G>A			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	-	e29+1	ENST00000369983.3	37	c.3883+1	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479394	0.84747	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5023	0.87735	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104125332	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	8.402000	0.90205	2.793000	0.96121	0.655000	0.94253	.	GBF1	-	-	ENSG00000107862		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	76	0.00	0	G		Intron	104135342	104135342	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	splice_site	42	26.32	15	SNP	1.000	A
GRIK3	2899	genome.wustl.edu	37	1	37307537	37307537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr1:37307537C>A	ENST00000373091.3	-	10	1346	c.1330G>T	c.(1330-1332)Gag>Tag	p.E444*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.E444*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	444					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ACGAAGGGCTCCTCCTGCAGA	0.577																																						dbGAP											0													106.0	97.0	100.0					1																	37307537		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1330G>T	1.37:g.37307537C>A	ENSP00000362183:p.Glu444*		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E444*	ENST00000373091.3	37	c.1330	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443307	0.83993	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	.	.	.	X	444	.	ENSP00000362183:E444X	E	-	1	0	GRIK3	37080124	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	4.848000	0.62874	2.446000	0.82766	0.655000	0.94253	GAG	GRIK3	-	smart_Iontro_glu_rcpt	ENSG00000163873		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	47	0.00	0	C	NM_000831		37307537	37307537	-1	no_errors	ENST00000373091	ensembl	human	known	69_37n	nonsense	33	44.07	26	SNP	1.000	A
HLA-DRB1	3123	genome.wustl.edu	37	6	32552156	32552156	+	Splice_Site	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr6:32552156C>T	ENST00000360004.5	-	2	206		c.e2-1			NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGGAAACGTGCTGTGGGGACA	0.622										Multiple Myeloma(14;0.17)																												dbGAP											0													12.0	12.0	12.0					6																	32552156		1915	3808	5723	-	-	-	SO:0001630	splice_region_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.101-1G>A	6.37:g.32552156C>T			P01914|Q9MYF5	Splice_Site	SNP	-	e2-1	ENST00000360004.5	37	c.101-1	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	c	12.04	1.818012	0.32145	.	.	ENSG00000196126	ENST00000360004	.	.	.	3.52	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9121	0.58184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-DRB1	32660134	0.923000	0.31300	0.284000	0.24805	0.036000	0.12997	1.831000	0.39141	1.979000	0.57680	0.453000	0.30009	.	HLA-DRB1	-	-	ENSG00000196126		0.622	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	12	0.00	0	C	NM_002124	Intron	32552156	32552156	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	splice_site	9	30.77	4	SNP	0.636	T
IGF2BP2	10644	genome.wustl.edu	37	3	185367245	185367245	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr3:185367245A>C	ENST00000382199.2	-	14	1634	c.1539T>G	c.(1537-1539)caT>caG	p.H513Q	IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.H519Q|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.H456Q|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.H470Q	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	513	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCACTCTGATATGCGCTTCCA	0.532																																						dbGAP											0													90.0	81.0	84.0					3																	185367245		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1539T>G	3.37:g.185367245A>C	ENSP00000371634:p.His513Gln		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.H513Q	ENST00000382199.2	37	c.1539	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913974	0.33815	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.81	2.99	0.34606	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.050466	0.85682	D	0.000000	T	0.37785	0.1016	L	0.41906	1.305	0.52099	D	0.999948	B;P;P;P;B;P	0.41978	0.334;0.767;0.767;0.767;0.194;0.586	P;P;P;P;P;P	0.56916	0.617;0.711;0.711;0.711;0.516;0.809	T	0.04495	-1.0947	10	0.33141	T	0.24	-11.0623	8.9532	0.35801	0.2324:0.0:0.7675:0.0	.	407;450;456;519;470;513	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	Q	513;456;519;470	ENSP00000371634:H513Q;ENSP00000413787:H456Q;ENSP00000410242:H519Q;ENSP00000320204:H470Q	ENSP00000320204:H470Q	H	-	3	2	IGF2BP2	186849939	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	5.623000	0.67757	0.547000	0.28938	-0.389000	0.06534	CAT	IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000073792		0.532	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	48	0.00	0	A	NM_006548		185367245	185367245	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	missense	53	42.55	40	SNP	1.000	C
KLHL1	57626	genome.wustl.edu	37	13	70681654	70681654	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr13:70681654G>C	ENST00000377844.4	-	1	937	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	60	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCTCTCTTGGCTTTTGAGC	0.612																																						dbGAP											0													71.0	80.0	77.0					13																	70681654		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.178C>G	13.37:g.70681654G>C	ENSP00000367075:p.Gln60Glu		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q60E	ENST00000377844.4	37	c.178	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318847	0.41096	.	.	ENSG00000150361	ENST00000377844	T	0.71341	-0.56	5.41	5.41	0.78517	.	5.042340	0.00582	N	0.000322	T	0.70552	0.3237	L	0.44542	1.39	0.80722	D	1	B;B	0.30889	0.299;0.21	B;B	0.23716	0.048;0.031	T	0.48768	-0.9006	10	0.52906	T	0.07	.	17.4447	0.87574	0.0:0.0:1.0:0.0	.	60;60	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	60	ENSP00000367075:Q60E	ENSP00000367075:Q60E	Q	-	1	0	KLHL1	69579655	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	6.492000	0.73654	2.549000	0.85964	0.650000	0.86243	CAA	KLHL1	-	NULL	ENSG00000150361		0.612	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	60	0.00	0	G	NM_020866		70681654	70681654	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	22	50.00	22	SNP	1.000	C
KLK2	3817	genome.wustl.edu	37	19	51379763	51379763	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:51379763T>C	ENST00000325321.3	+	3	467	c.242T>C	c.(241-243)tTt>tCt	p.F81S	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.F81S|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CACAACCTGTTTGAGCCTGAA	0.562			T	ETV4	prostate																																	dbGAP		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													47.0	43.0	45.0					19																	51379763		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.242T>C	19.37:g.51379763T>C	ENSP00000313581:p.Phe81Ser		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F81S	ENST00000325321.3	37	c.242	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	T	9.547	1.115015	0.20795	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	D;D	0.87571	-2.27;-2.27	2.72	-1.53	0.08611	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.171030	0.06597	N	0.753150	T	0.58206	0.2106	N	0.00648	-1.295	0.09310	N	0.999999	B;B;B	0.24618	0.107;0.032;0.014	B;B;B	0.28385	0.089;0.021;0.035	T	0.57688	-0.7768	10	0.06757	T	0.87	.	3.1935	0.06625	0.5402:0.1382:0.0:0.3217	.	64;81;81	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	S	81	ENSP00000313581:F81S;ENSP00000350748:F81S	ENSP00000313581:F81S	F	+	2	0	KLK2	56071575	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	-0.687000	0.05156	-0.127000	0.11661	0.254000	0.18369	TTT	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167751		0.562	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	71	0.00	0	T	NM_005551.3		51379763	51379763	+1	no_errors	ENST00000325321	ensembl	human	known	69_37n	missense	51	34.18	27	SNP	0.001	C
KRT2	3849	genome.wustl.edu	37	12	53041976	53041976	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr12:53041976T>A	ENST00000309680.3	-	5	1124	c.1103A>T	c.(1102-1104)gAg>gTg	p.E368V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	368	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTACAGGGCCTCCGCTTCTTC	0.572																																						dbGAP											0													198.0	176.0	184.0					12																	53041976		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1103A>T	12.37:g.53041976T>A	ENSP00000310861:p.Glu368Val		Q4VAQ2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E368V	ENST00000309680.3	37	c.1103	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	T	16.58	3.161572	0.57368	.	.	ENSG00000172867	ENST00000309680	D	0.94092	-3.35	4.37	4.37	0.52481	Filament (1);	.	.	.	.	D	0.97742	0.9259	H	0.97186	3.955	0.44852	D	0.997868	D	0.89917	1.0	D	0.91635	0.999	D	0.98888	1.0772	9	0.87932	D	0	.	14.0396	0.64667	0.0:0.0:0.0:1.0	.	368	P35908	K22E_HUMAN	V	368	ENSP00000310861:E368V	ENSP00000310861:E368V	E	-	2	0	KRT2	51328243	1.000000	0.71417	0.063000	0.19743	0.278000	0.26855	7.742000	0.85008	1.986000	0.57962	0.460000	0.39030	GAG	KRT2	-	pfam_F,superfamily_Prefoldin	ENSG00000172867		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	191	0.00	0	T	NM_000423		53041976	53041976	-1	no_errors	ENST00000309680	ensembl	human	known	69_37n	missense	111	36.16	64	SNP	0.940	A
LIPE	3991	genome.wustl.edu	37	19	42906899	42906899	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:42906899C>T	ENST00000244289.4	-	9	3103	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	943					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGAAACCCTCGGGGAAGGCG	0.617																																						dbGAP											0													63.0	55.0	58.0					19																	42906899		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2827G>A	19.37:g.42906899C>T	ENSP00000244289:p.Glu943Lys		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.E943K	ENST00000244289.4	37	c.2827	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908180	0.17833	.	.	ENSG00000079435	ENST00000244289	T	0.03301	3.98	5.38	-2.54	0.06307	.	1.972790	0.02696	N	0.111185	T	0.04227	0.0117	L	0.40543	1.245	0.09310	N	1	B	0.16802	0.019	B	0.12837	0.008	T	0.45366	-0.9266	10	0.44086	T	0.13	-3.8616	6.431	0.21796	0.0:0.4074:0.3683:0.2243	.	943	Q05469	LIPS_HUMAN	K	943	ENSP00000244289:E943K	ENSP00000244289:E943K	E	-	1	0	LIPE	47598739	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.327000	0.19663	-0.143000	0.11334	-1.106000	0.02097	GAG	LIPE	-	NULL	ENSG00000079435		0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	21	0.00	0	C	NM_005357		42906899	42906899	-1	no_errors	ENST00000244289	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.000	T
LILRA5	353514	genome.wustl.edu	37	19	54818710	54818710	+	Silent	SNP	T	T	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:54818710T>C	ENST00000301219.3	-	7	1007	c.888A>G	c.(886-888)gcA>gcG	p.A296A	LILRA5_ENST00000346508.3_Silent_p.A284A|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	296					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCTTCCAGCTGCAGCTTGGG	0.532																																						dbGAP											0													85.0	85.0	85.0					19																	54818710		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.888A>G	19.37:g.54818710T>C			A6NHI3	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.A296	ENST00000301219.3	37	c.888	CCDS12888.1	19																																																																																			LILRA5	-	NULL	ENSG00000187116		0.532	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	106	0.00	0	T	NM_181985		54818710	54818710	-1	no_errors	ENST00000301219	ensembl	human	known	69_37n	silent	97	26.52	35	SNP	0.002	C
MPDZ	8777	genome.wustl.edu	37	9	13175790	13175790	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr9:13175790C>G	ENST00000319217.7	-	21	3263	c.3016G>C	c.(3016-3018)Gaa>Caa	p.E1006Q	MPDZ_ENST00000541718.1_Missense_Mutation_p.E1006Q|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1006Q|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1006Q|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1006Q|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1006Q|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1006Q	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1006					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAGTCCTTTCAAAAGATTCT	0.393																																						dbGAP											0													48.0	46.0	47.0					9																	13175790		1827	4077	5904	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3016G>C	9.37:g.13175790C>G	ENSP00000320006:p.Glu1006Gln		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E1006Q	ENST00000319217.7	37	c.3016		9	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623434	0.87460	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.91	5.91	0.95273	.	0.000000	0.45126	D	0.000386	T	0.59636	0.2208	M	0.61703	1.905	0.80722	D	1	D;D;D	0.67145	0.985;0.991;0.996	P;P;D	0.63488	0.769;0.884;0.915	T	0.49370	-0.8947	10	0.20519	T	0.43	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	1006;1006;1006	B7ZMI4;O75970-3;O75970-2	.;.;.	Q	1006;1006;1006;12;1006;1006;1006;956;1006	ENSP00000320006:E1006Q;ENSP00000439807:E1006Q;ENSP00000370410:E1006Q;ENSP00000444230:E12Q;ENSP00000444151:E1006Q;ENSP00000415208:E1006Q;ENSP00000370403:E1006Q;ENSP00000446358:E1006Q	ENSP00000320006:E1006Q	E	-	1	0	MPDZ	13165790	1.000000	0.71417	0.964000	0.40570	0.899000	0.52679	6.544000	0.73878	2.802000	0.96397	0.655000	0.94253	GAA	MPDZ	-	superfamily_PDZ	ENSG00000107186		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	35	0.00	0	C	NM_003829		13175790	13175790	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	G
MPDZ	8777	genome.wustl.edu	37	9	13176329	13176329	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr9:13176329C>T	ENST00000319217.7	-	20	2984	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N	MPDZ_ENST00000541718.1_Missense_Mutation_p.D913N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D913N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D913N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D913N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D913N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D913N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	913					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTATTCTCATCCTGTCTTTGC	0.393																																						dbGAP											0													82.0	70.0	74.0					9																	13176329		1852	4095	5947	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2737G>A	9.37:g.13176329C>T	ENSP00000320006:p.Asp913Asn		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.D913N	ENST00000319217.7	37	c.2737		9	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573836	0.13623	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10382	2.92;2.88;2.88;2.88;2.93;2.92;2.92	5.78	2.91	0.33838	.	0.305919	0.23265	N	0.050094	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21309	0.015;0.026;0.054	B;B;B	0.23574	0.015;0.034;0.047	T	0.42582	-0.9443	10	0.16896	T	0.51	.	4.6517	0.12598	0.0:0.5345:0.1653:0.3002	.	913;913;913	B7ZMI4;O75970-3;O75970-2	.;.;.	N	913;913;913;913;913;913;863;913	ENSP00000320006:D913N;ENSP00000439807:D913N;ENSP00000370410:D913N;ENSP00000444151:D913N;ENSP00000415208:D913N;ENSP00000370403:D913N;ENSP00000446358:D913N	ENSP00000320006:D913N	D	-	1	0	MPDZ	13166329	0.000000	0.05858	0.236000	0.24074	0.394000	0.30568	0.172000	0.16704	0.344000	0.23847	0.563000	0.77884	GAT	MPDZ	-	NULL	ENSG00000107186		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	45	0.00	0	C	NM_003829		13176329	13176329	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	34	39.29	22	SNP	0.021	T
MYT1	4661	genome.wustl.edu	37	20	62871685	62871685	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr20:62871685G>A	ENST00000328439.1	+	23	3614	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1111K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAATATGCGAACAGAATTT	0.552																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0													140.0	118.0	126.0					20																	62871685		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3250G>A	20.37:g.62871685G>A	ENSP00000327465:p.Glu1084Lys		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E1111K	ENST00000328439.1	37	c.3331	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971568	0.74246	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.51071	0.73;0.72	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.74578	-0.3619	10	0.87932	D	0	-19.9087	19.5679	0.95403	0.0:0.0:1.0:0.0	.	1111;1084	F5H7M8;Q01538	.;MYT1_HUMAN	K	1084;1111	ENSP00000327465:E1084K;ENSP00000442412:E1111K	ENSP00000327465:E1084K	E	+	1	0	MYT1	62342129	1.000000	0.71417	0.995000	0.50966	0.904000	0.53231	9.725000	0.98778	2.702000	0.92279	0.655000	0.94253	GAA	MYT1	-	NULL	ENSG00000196132		0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	11	0.00	0	G	NM_004535		62871685	62871685	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	1.000	A
NCK1	4690	genome.wustl.edu	37	3	136667105	136667105	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr3:136667105A>G	ENST00000481752.1	+	4	1108	c.944A>G	c.(943-945)aAt>aGt	p.N315S	NCK1_ENST00000288986.2_Missense_Mutation_p.N315S|NCK1_ENST00000469404.1_Missense_Mutation_p.N251S|IL20RB_ENST00000484501.1_Intron			P16333	NCK1_HUMAN	NCK adaptor protein 1	315	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTTTAGCCAAATGATTTCTCA	0.318																																						dbGAP											0													58.0	57.0	57.0					3																	136667105		2203	4298	6501	-	-	-	SO:0001583	missense	0			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.944A>G	3.37:g.136667105A>G	ENSP00000417273:p.Asn315Ser		B7Z751|D3DNE3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.N315S	ENST00000481752.1	37	c.944	CCDS3092.1	3	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089221	0.36855	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.81	5.81	0.92471	SH2 motif (5);	0.047210	0.85682	D	0.000000	T	0.79311	0.4424	N	0.11651	0.15	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.16289	0.015;0.01	T	0.74275	-0.3718	10	0.33141	T	0.24	-19.5563	14.1229	0.65201	1.0:0.0:0.0:0.0	.	251;315	B7Z751;P16333	.;NCK1_HUMAN	S	315;315;251;118	ENSP00000288986:N315S;ENSP00000417273:N315S;ENSP00000419631:N251S;ENSP00000418060:N118S	ENSP00000288986:N315S	N	+	2	0	NCK1	138149795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.734000	0.68580	2.225000	0.72522	0.533000	0.62120	AAT	NCK1	-	pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,prints_SH2	ENSG00000158092		0.318	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	225	0.00	0	A	NM_006153		136667105	136667105	+1	no_errors	ENST00000288986	ensembl	human	known	69_37n	missense	181	42.36	133	SNP	1.000	G
OR52B2	255725	genome.wustl.edu	37	11	6190763	6190763	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr11:6190763T>G	ENST00000530810.1	-	1	875	c.794A>C	c.(793-795)cAt>cCt	p.H265P	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCCCAAAATGATGGGTCAA	0.473																																					NSCLC(5;186 261 1778 7098 14207)	dbGAP											0													104.0	98.0	100.0					11																	6190763		1967	4159	6126	-	-	-	SO:0001583	missense	0			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.794A>C	11.37:g.6190763T>G	ENSP00000432011:p.His265Pro		Q8NGM7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H265P	ENST00000530810.1	37	c.794	CCDS53598.1	11	.	.	.	.	.	.	.	.	.	.	C	1.936	-0.444857	0.04604	.	.	ENSG00000255307	ENST00000530810	T	0.36520	1.25	5.19	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20700	0.0498	N	0.03268	-0.37	0.09310	N	1	B	0.22146	0.065	B	0.25405	0.06	T	0.26326	-1.0106	9	0.87932	D	0	.	13.2964	0.60298	0.0:0.8263:0.0:0.1737	.	265	Q96RD2	O52B2_HUMAN	P	265	ENSP00000432011:H265P	ENSP00000432011:H265P	H	-	2	0	OR52B2	6147339	0.001000	0.12720	0.590000	0.28732	0.016000	0.09150	0.441000	0.21611	0.097000	0.17492	-3.072000	0.00067	CAT	OR52B2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255307		0.473	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1	186	0.00	0	T	NM_001004052		6190763	6190763	-1	no_errors	ENST00000530810	ensembl	human	known	69_37n	missense	135	43.75	105	SNP	0.013	G
NXPE1	120400	genome.wustl.edu	37	11	114393794	114393794	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr11:114393794C>A	ENST00000424269.1	-	4	914	c.915G>T	c.(913-915)gaG>gaT	p.E305D	NXPE1_ENST00000251921.2_Missense_Mutation_p.E163D|NXPE1_ENST00000536271.1_Missense_Mutation_p.E21D			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	305						extracellular region (GO:0005576)											CTTGGCATGTCTCTTCTATTT	0.373																																						dbGAP											0													84.0	79.0	81.0					11																	114393794		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.915G>T	11.37:g.114393794C>A	ENSP00000411690:p.Glu305Asp		B0YJ13	Missense_Mutation	SNP	superfamily_Ig_E-set	p.E305D	ENST00000424269.1	37	c.915		11	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520790	0.27211	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.15139	2.45;2.45;2.65	4.3	2.34	0.29019	.	0.782162	0.10724	N	0.641347	T	0.19248	0.0462	M	0.68593	2.085	0.22253	N	0.999258	B	0.14438	0.01	B	0.17722	0.019	T	0.24512	-1.0158	10	0.54805	T	0.06	.	6.5147	0.22242	0.0:0.6603:0.0:0.3397	.	305	Q8N323	FA55A_HUMAN	D	21;163;305	ENSP00000445200:E21D;ENSP00000251921:E163D;ENSP00000411690:E305D	ENSP00000251921:E163D	E	-	3	2	FAM55A	113899004	0.000000	0.05858	0.538000	0.28064	0.132000	0.20833	-0.959000	0.03853	0.478000	0.27488	-0.142000	0.14014	GAG	NXPE1	-	NULL	ENSG00000095110		0.373	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		207	0.00	0	C	NM_152315		114393794	114393794	-1	no_errors	ENST00000424269	ensembl	human	known	69_37n	missense	188	48.91	180	SNP	0.881	A
PAPPA2	60676	genome.wustl.edu	37	1	176738882	176738882	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr1:176738882G>A	ENST00000367662.3	+	16	5627	c.4463G>A	c.(4462-4464)cGc>cAc	p.R1488H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTGAAACGCTGCTCAATC	0.522																																						dbGAP											0													123.0	123.0	123.0					1																	176738882		1994	4169	6163	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4463G>A	1.37:g.176738882G>A	ENSP00000356634:p.Arg1488His		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1488H	ENST00000367662.3	37	c.4463	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009826	0.54361	.	.	ENSG00000116183	ENST00000367662	T	0.50277	0.75	6.17	4.29	0.51040	Complement control module (2);Sushi/SCR/CCP (2);	0.185029	0.48286	D	0.000181	T	0.41026	0.1141	M	0.66939	2.045	0.80722	D	1	B	0.31931	0.347	B	0.16722	0.016	T	0.30707	-0.9969	10	0.45353	T	0.12	-19.407	9.3182	0.37948	0.2744:0.0:0.7256:0.0	.	1488	Q9BXP8	PAPP2_HUMAN	H	1488	ENSP00000356634:R1488H	ENSP00000356634:R1488H	R	+	2	0	PAPPA2	175005505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.284000	0.51708	0.918000	0.36919	0.655000	0.94253	CGC	PAPPA2	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000116183		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	209	0.00	0	G			176738882	176738882	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	182	68.54	403	SNP	1.000	A
PCDHA13	56136	genome.wustl.edu	37	5	140262514	140262514	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:140262514G>A	ENST00000289272.2	+	1	661	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PCDHA13_ENST00000409494.1_Missense_Mutation_p.E221K|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAAACCCGAGCTGACTGG	0.443																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0													59.0	60.0	60.0					5																	140262514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.661G>A	5.37:g.140262514G>A	ENSP00000289272:p.Glu221Lys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E221K	ENST00000289272.2	37	c.661	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766429	0.31228	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51325	0.71;0.71	5.58	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56381	0.1981	M	0.70842	2.15	0.09310	N	1	P;P;P	0.44627	0.827;0.799;0.839	P;B;B	0.51229	0.663;0.341;0.387	T	0.48614	-0.9020	9	0.37606	T	0.19	.	9.254	0.37573	0.0741:0.2788:0.6471:0.0	.	221;221;221	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	221	ENSP00000386821:E221K;ENSP00000289272:E221K	ENSP00000289272:E221K	E	+	1	0	PCDHA13	140242698	0.000000	0.05858	0.029000	0.17559	0.861000	0.49209	0.133000	0.15912	1.342000	0.45619	0.561000	0.74099	GAG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.443	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	155	0.00	0	G	NM_018904		140262514	140262514	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	46	38.67	29	SNP	0.008	A
PDE3A	5139	genome.wustl.edu	37	12	20766493	20766493	+	Silent	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr12:20766493C>T	ENST00000359062.3	+	3	1168	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	376					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTTGAGAGCCGTGAGCAACT	0.552																																						dbGAP											0													109.0	100.0	103.0					12																	20766493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1128C>T	12.37:g.20766493C>T			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A376	ENST00000359062.3	37	c.1128	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.552	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	154	0.00	0	C			20766493	20766493	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	silent	173	18.40	39	SNP	0.083	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	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)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	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)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				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		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	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	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	119	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	86	49.11	83	SNP	1.000	A
PRKCE	5581	genome.wustl.edu	37	2	46411965	46411966	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr2:46411965_46411966TC>AT	ENST00000306156.3	+	15	2486_2487	c.2159_2160TC>AT	c.(2158-2160)aTC>aAT	p.I720N		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	720	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GTAAAGCAGATCAACCAGGAGG	0.485																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	Exception_encountered	2.37:g.46411965_46411966delinsAT	ENSP00000306124:p.Ile720Asn		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.I720N|p.I720	ENST00000306156.3	37	c.2159|c.2160	CCDS1824.1	2																																																																																			PRKCE	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta	ENSG00000171132		0.485	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	101|102	0.00	0	T|C			46411965|46411966	46411965|46411966	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	missense|silent	60	44.44	48	SNP	1.000	A|T
PTENP1	11191	genome.wustl.edu	37	9	33676575	33676575	+	RNA	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr9:33676575C>G	ENST00000532280.1	-	0	922					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAATATAGGTCAAGTCTAAGT	0.388																																						dbGAP											0																																										-	-	-			0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676575C>G				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.388	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	161	0.00	0	C	NR_023917		33676575	33676575	-1	no_errors	ENST00000532280	ensembl	human	known	69_37n	rna	71	46.62	62	SNP	0.814	G
PTPN4	5775	genome.wustl.edu	37	2	120718455	120718455	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr2:120718455G>A	ENST00000263708.2	+	23	2977	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	PTPN4_ENST00000544261.1_Missense_Mutation_p.D369N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	736	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CACTTGTACAGATTTTTGGCA	0.383																																						dbGAP											0													162.0	145.0	151.0					2																	120718455		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2206G>A	2.37:g.120718455G>A	ENSP00000263708:p.Asp736Asn		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.D736N	ENST00000263708.2	37	c.2206	CCDS2129.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.925701|4.925701	0.92319|0.92319	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.21191|.	2.02;2.02|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87799|0.87799	0.6268|0.6268	H|H	0.94808|0.94808	3.585|3.585	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.54815|.	0.761|.	D|D	0.90389|0.90389	0.4394|0.4394	10|5	0.66056|.	D|.	0.02|.	.|.	20.0118|20.0118	0.97458|0.97458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	736|.	P29074|.	PTN4_HUMAN|.	N|K	736;369|19	ENSP00000263708:D736N;ENSP00000445841:D369N|.	ENSP00000263708:D736N|.	D|R	+|+	1|2	0|0	PTPN4|PTPN4	120434925|120434925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.439000|6.439000	0.73430|0.73430	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GAT|AGA	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000088179		0.383	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	252	0.00	0	G			120718455	120718455	+1	no_errors	ENST00000263708	ensembl	human	known	69_37n	missense	185	40.32	125	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51171179	51171179	+	Silent	SNP	T	T	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr16:51171179T>A	ENST00000251020.4	-	3	3852	c.3819A>T	c.(3817-3819)tcA>tcT	p.S1273S	SALL1_ENST00000541611.1_Silent_p.S96S|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.S1176S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1273					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACTAACAGGTGAGCTGTTCC	0.592																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											0													74.0	71.0	72.0					16																	51171179		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3819A>T	16.37:g.51171179T>A			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1273	ENST00000251020.4	37	c.3819	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	43	0.00	0	T	NM_002968		51171179	51171179	-1	no_errors	ENST00000251020	ensembl	human	known	69_37n	silent	30	50.00	30	SNP	0.998	A
SH3PXD2A	9644	genome.wustl.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)cacfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.329dupC	10.37:g.105484104_105484104dupG	ENSP00000358789:p.His110fs		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.H110fs	ENST00000369774.4	37	c.329_328		10																																																																																			SH3PXD2A	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000107957		0.535	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	26	0.00	0	-	NM_014631		105484097	105484098	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	1.000:0.989	G
SLC9A9	285195	genome.wustl.edu	37	3	142985726	142985726	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr3:142985726C>T	ENST00000316549.6	-	16	1964	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	586					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATGGCTAGTTCATCCTGGTTT	0.493																																						dbGAP											0													132.0	125.0	128.0					3																	142985726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1756G>A	3.37:g.142985726C>T	ENSP00000320246:p.Glu586Lys		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E586K	ENST00000316549.6	37	c.1756	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083855	0.55861	.	.	ENSG00000181804	ENST00000316549	T	0.29397	1.57	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.64997	1.995	0.47905	D	0.999547	D	0.63880	0.993	D	0.70935	0.971	T	0.52298	-0.8594	10	0.54805	T	0.06	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	586	Q8IVB4	SL9A9_HUMAN	K	586	ENSP00000320246:E586K	ENSP00000320246:E586K	E	-	1	0	SLC9A9	144468416	0.979000	0.34478	0.298000	0.25002	0.359000	0.29487	2.775000	0.47702	2.683000	0.91414	0.655000	0.94253	GAA	SLC9A9	-	NULL	ENSG00000181804		0.493	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	103	0.00	0	C	NM_173653		142985726	142985726	-1	no_errors	ENST00000316549	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	0.967	T
SPO11	23626	genome.wustl.edu	37	20	55908329	55908329	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr20:55908329T>C	ENST00000371263.3	+	3	440	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	SPO11_ENST00000371260.4_Missense_Mutation_p.F73L|SPO11_ENST00000345868.4_Missense_Mutation_p.F73L	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	111					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AGCTCAAAAATTTTGTAAGTT	0.294								Editing and processing nucleases																														dbGAP											0													58.0	63.0	61.0					20																	55908329		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.331T>C	20.37:g.55908329T>C	ENSP00000360310:p.Phe111Leu		Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.F111L	ENST00000371263.3	37	c.331	CCDS13456.1	20	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844834	0.51164	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.39	5.39	0.77823	Spo11/DNA topoisomerase VI, subunit A, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.948;0.999	T	0.50415	-0.8831	10	0.22706	T	0.39	-29.1443	14.2675	0.66129	0.0:0.0:0.0:1.0	.	73;111	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	L	111;73;73;89	ENSP00000360310:F111L;ENSP00000316034:F73L;ENSP00000360307:F73L;ENSP00000413185:F89L	ENSP00000316034:F73L	F	+	1	0	SPO11	55341736	1.000000	0.71417	0.934000	0.37439	0.190000	0.23558	6.615000	0.74201	2.182000	0.69389	0.482000	0.46254	TTT	SPO11	-	pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11	ENSG00000054796		0.294	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	83	0.00	0	T	NM_012444		55908329	55908329	+1	no_errors	ENST00000371263	ensembl	human	known	69_37n	missense	62	46.09	53	SNP	0.995	C
SSH1	54434	genome.wustl.edu	37	12	109186215	109186215	+	Silent	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr12:109186215C>T	ENST00000326495.5	-	14	1833	c.1740G>A	c.(1738-1740)cgG>cgA	p.R580R	SSH1_ENST00000326470.5_Silent_p.R591R|SSH1_ENST00000551165.1_Silent_p.R580R|SSH1_ENST00000360239.3_Silent_p.R268R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	580					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAGCCGCTCCGACCTTTGG	0.607																																						dbGAP											0													99.0	94.0	96.0					12																	109186215		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1740G>A	12.37:g.109186215C>T			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R580	ENST00000326495.5	37	c.1740	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.607	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	63	0.00	0	C	NM_018984		109186215	109186215	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	silent	49	47.31	44	SNP	0.000	T
SSX7	280658	genome.wustl.edu	37	X	52677374	52677374	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chrX:52677374C>T	ENST00000298181.5	-	6	561	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGTTTCCCATCGTTCTGTGAG	0.468																																						dbGAP											0													238.0	209.0	219.0					X																	52677374		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.403G>A	X.37:g.52677374C>T	ENSP00000298181:p.Asp135Asn			Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D135N	ENST00000298181.5	37	c.403	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	0	-2.629432	0.00115	.	.	ENSG00000187754	ENST00000298181	T	0.08458	3.09	0.56	-1.12	0.09808	.	1.990750	0.02683	N	0.109837	T	0.07369	0.0186	L	0.39245	1.2	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.34179	-0.9839	9	0.18710	T	0.47	.	.	.	.	.	135	Q7RTT5	SSX7_HUMAN	N	135	ENSP00000298181:D135N	ENSP00000298181:D135N	D	-	1	0	SSX7	52694099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.991000	0.03728	-0.574000	0.05990	-1.215000	0.01618	GAT	SSX7	-	NULL	ENSG00000187754		0.468	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	HGNC	protein_coding	OTTHUMT00000056671.1	487	0.00	0	C	NM_173358		52677374	52677374	-1	no_errors	ENST00000298181	ensembl	human	known	69_37n	missense	781	10.54	92	SNP	0.000	T
TBX3	6926	genome.wustl.edu	37	12	115120672	115120672	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr12:115120672G>A	ENST00000257566.3	-	1	723	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	TBX3_ENST00000349155.2_Missense_Mutation_p.L112F	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	112					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGATCCCAAAGTTCTTTAGCC	0.577																																						dbGAP											0													52.0	54.0	54.0					12																	115120672		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.334C>T	12.37:g.115120672G>A	ENSP00000257566:p.Leu112Phe		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L112F	ENST00000257566.3	37	c.334	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890077	0.91889	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.94046	-3.34;-3.34	5.32	5.32	0.75619	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.998;0.999	D	0.99529	1.0960	10	0.87932	D	0	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	112;112;112	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	F	112	ENSP00000257567:L112F;ENSP00000257566:L112F	ENSP00000257566:L112F	L	-	1	0	TBX3	113605055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.489000	0.83994	0.655000	0.94253	CTT	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.577	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	49	0.00	0	G	NM_016569, NM_005996		115120672	115120672	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	missense	21	60.38	32	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42607000	42607000	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr22:42607000G>A	ENST00000359486.3	-	1	4448	c.4312C>T	c.(4312-4314)Cgt>Tgt	p.R1438C	TCF20_ENST00000335626.4_Missense_Mutation_p.R1438C|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACGCTGCCACGCCACTCTTCT	0.512																																						dbGAP											0													136.0	133.0	134.0					22																	42607000		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4312C>T	22.37:g.42607000G>A	ENSP00000352463:p.Arg1438Cys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.R1438C	ENST00000359486.3	37	c.4312	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041078	0.55003	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59772	0.25;0.24	5.8	4.79	0.61399	.	0.356912	0.27659	N	0.018393	T	0.53367	0.1792	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.53649	0.731;0.543	T	0.58183	-0.7681	10	0.87932	D	0	-9.2206	10.2382	0.43297	0.1516:0.0:0.8484:0.0	.	1438;1438	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	1438	ENSP00000352463:R1438C;ENSP00000335561:R1438C	ENSP00000335561:R1438C	R	-	1	0	TCF20	40936944	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	2.529000	0.45632	1.456000	0.47831	0.655000	0.94253	CGT	TCF20	-	NULL	ENSG00000100207		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	393	0.00	0	G	NM_181492		42607000	42607000	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	missense	214	24.65	70	SNP	1.000	A
TCOF1	6949	genome.wustl.edu	37	5	149777996	149777996	+	Silent	SNP	G	G	A	rs3208538		TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr5:149777996G>A	ENST00000504761.2	+	25	4422	c.4422G>A	c.(4420-4422)caG>caA	p.Q1474Q	TCOF1_ENST00000377797.3_Silent_p.Q1475Q|TCOF1_ENST00000445265.2_Silent_p.Q1398Q|TCOF1_ENST00000439160.2_Silent_p.Q1437Q|TCOF1_ENST00000323668.7_Silent_p.Q1397Q|TCOF1_ENST00000513346.1_Silent_p.Q1474Q|TCOF1_ENST00000451292.1_Silent_p.Q1511Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1474					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCGTCCCAGAAGAAAAAGA	0.438																																						dbGAP											0													70.0	84.0	79.0					5																	149777996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4422G>A	5.37:g.149777996G>A			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.Q1511	ENST00000504761.2	37	c.4533	CCDS54936.1	5																																																																																			TCOF1	-	NULL	ENSG00000070814		0.438	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	152	0.00	0	G	NM_001008656		149777996	149777996	+1	no_errors	ENST00000451292	ensembl	human	known	69_37n	silent	40	64.60	73	SNP	0.998	A
TECRL	253017	genome.wustl.edu	37	4	65180391	65180391	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr4:65180391T>A	ENST00000381210.3	-	5	636	c.526A>T	c.(526-528)Aga>Tga	p.R176*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.R176*|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	176					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CGTAATCTTCTAGCACTCTCT	0.428																																						dbGAP											0													111.0	104.0	106.0					4																	65180391		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.526A>T	4.37:g.65180391T>A	ENSP00000370607:p.Arg176*			Nonsense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.R176*	ENST00000381210.3	37	c.526	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431698	0.83776	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	.	.	.	5.7	4.49	0.54785	.	0.257581	0.40728	N	0.001022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.8572	9.5244	0.39156	0.0:0.0817:0.0:0.9183	.	.	.	.	X	176	.	ENSP00000370607:R176X	R	-	1	2	TECRL	64862986	0.914000	0.31030	0.068000	0.19968	0.294000	0.27393	1.704000	0.37857	0.954000	0.37851	0.482000	0.46254	AGA	TECRL	-	NULL	ENSG00000205678		0.428	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	29	0.00	0	T	NM_001010874		65180391	65180391	-1	no_errors	ENST00000381210	ensembl	human	known	69_37n	nonsense	43	14.00	7	SNP	0.030	A
TESK1	7016	genome.wustl.edu	37	9	35609609	35609610	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr9:35609609_35609610insC	ENST00000336395.5	+	10	2001_2002	c.1751_1752insC	c.(1750-1755)tgccccfs	p.CP584fs	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|CD72_ENST00000396757.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	584					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCCATGTGCCCCCGCCCCA	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1756dupC	9.37:g.35609614_35609614dupC	ENSP00000338127:p.Cys584fs		Q8IXZ8	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R586fs	ENST00000336395.5	37	c.1751_1752	CCDS6580.1	9																																																																																			TESK1	-	NULL	ENSG00000107140		0.688	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	25	0.00	0	-	NM_006285		35609609	35609610	+1	no_errors	ENST00000336395	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:1.000	C
UGT1A7	54577	genome.wustl.edu	37	2	234591216	234591216	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr2:234591216C>G	ENST00000373426.3	+	1	633	c.633C>G	c.(631-633)atC>atG	p.I211M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	211					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GGAACCACATCATGCACTTGG	0.443																																						dbGAP											0													174.0	183.0	180.0					2																	234591216		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.633C>G	2.37:g.234591216C>G	ENSP00000362525:p.Ile211Met		B8K293|O00473	Nonsense_Mutation	SNP	pfam_UDP_glucos_trans	p.S68*	ENST00000373426.3	37	c.203	CCDS2506.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.455|6.455	0.452095|0.452095	0.12283|0.12283	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.63417|.	-0.04|.	4.07|4.07	-0.859|-0.859	0.10685|0.10685	.|.	.|.	.|.	.|.	.|.	T|.	0.35219|.	0.0924|.	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	B;B|.	0.13594|.	0.008;0.008|.	B;B|.	0.25759|.	0.063;0.063|.	T|.	0.33675|.	-0.9859|.	9|.	0.46703|.	T|.	0.11|.	.|.	2.0324|2.0324	0.03532|0.03532	0.11:0.2091:0.3139:0.367|0.11:0.2091:0.3139:0.367	.|.	211;211|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	M|X	211|68	ENSP00000362525:I211M|.	ENSP00000362525:I211M|.	I|S	+|+	3|2	3|0	UGT1A7|UGT1A7	234255955|234255955	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-5.456000|-5.456000	0.00121|0.00121	-0.096000|-0.096000	0.12329|0.12329	-0.443000|-0.443000	0.05667|0.05667	ATC|TCA	UGT1A7	-	pfam_UDP_glucos_trans	ENSG00000244122		0.443	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	965	0.00	0	C	NM_019077		234591216	234591216	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000485022	ensembl	human	putative	69_37n	nonsense	953	17.56	203	SNP	0.000	G
XRN2	22803	genome.wustl.edu	37	20	21314348	21314348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr20:21314348G>T	ENST00000377191.3	+	11	1035	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.E260*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.E238*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	314					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTAGTATTTGGAAAGAGAACT	0.418																																						dbGAP											0													218.0	209.0	212.0					20																	21314348		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.940G>T	20.37:g.21314348G>T	ENSP00000366396:p.Glu314*		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.E314*	ENST00000377191.3	37	c.940	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.069480	0.98040	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.73	5.73	0.89815	.	0.095500	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-25.9039	19.9002	0.96983	0.0:0.0:1.0:0.0	.	.	.	.	X	314;238;260	.	ENSP00000366396:E314X	E	+	1	0	XRN2	21262348	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.837000	0.99465	2.709000	0.92574	0.655000	0.94253	GAA	XRN2	-	pirsf_5_3_exoribonuclease_2	ENSG00000088930		0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	242	0.00	0	G	NM_012255		21314348	21314348	+1	no_errors	ENST00000377191	ensembl	human	known	69_37n	nonsense	214	44.27	170	SNP	1.000	T
YAF2	10138	genome.wustl.edu	37	12	42554570	42554570	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr12:42554570C>T	ENST00000534854.2	-	4	431	c.364G>A	c.(364-366)Gat>Aat	p.D122N	YAF2_ENST00000442791.3_Missense_Mutation_p.D146N|YAF2_ENST00000380788.3_Missense_Mutation_p.D113N|YAF2_ENST00000327791.4_Missense_Mutation_p.D98N|YAF2_ENST00000380790.4_Missense_Mutation_p.D80N	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	122					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ACTGTCAGATCTCCAACAGTA	0.403																																						dbGAP											0													61.0	53.0	56.0					12																	42554570		2203	4299	6502	-	-	-	SO:0001583	missense	0			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.364G>A	12.37:g.42554570C>T	ENSP00000439256:p.Asp122Asn		A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.D146N	ENST00000534854.2	37	c.436	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505359	0.12822	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	N	0.12887	0.27	0.80722	D	1	D;D;D;D	0.71674	0.996;0.997;0.998;0.993	D;D;D;D	0.81914	0.993;0.989;0.995;0.984	T	0.49447	-0.8939	9	0.02654	T	1	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	80;113;98;122	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	N	98;146;122;80;113	.	ENSP00000328004:D98N	D	-	1	0	YAF2	40840837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.699000	0.92147	0.655000	0.94253	GAT	YAF2	-	NULL	ENSG00000015153		0.403	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	87	0.00	0	C			42554570	42554570	-1	no_errors	ENST00000442791	ensembl	human	known	69_37n	missense	70	28.57	28	SNP	1.000	T
ZFP36L1	677	genome.wustl.edu	37	14	69256881	69256881	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr14:69256881C>T	ENST00000439696.2	-	2	687	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C129Y|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	129					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)		CCCGTACTTACAGGCACCGTT	0.657											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													113.0	108.0	110.0					14																	69256881		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.386G>A	14.37:g.69256881C>T	ENSP00000388402:p.Cys129Tyr	1113	Q13851	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.C129Y	ENST00000439696.2	37	c.386	CCDS9791.1	14	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456943	0.63401	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	D;D;D;D	0.99951	-8.74;-8.74;-8.74;-8.74	4.69	3.8	0.43715	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95920	0.8930	10	0.87932	D	0	.	13.0981	0.59204	0.0:0.9221:0.0:0.0779	.	129	Q07352	TISB_HUMAN	Y	129;129;112;135;107	ENSP00000388402:C129Y;ENSP00000337386:C129Y;ENSP00000450784:C135Y;ENSP00000450600:C107Y	ENSP00000337386:C129Y	C	-	2	0	ZFP36L1	68326634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.563000	0.82314	1.187000	0.43000	0.585000	0.79938	TGT	ZFP36L1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000185650		0.657	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	84	0.00	0	C			69256881	69256881	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	missense	63	37.00	37	SNP	1.000	T
ZNF99	7652	genome.wustl.edu	37	19	22941252	22941252	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chr19:22941252C>T	ENST00000596209.1	-	4	1549	c.1459G>A	c.(1459-1461)Ggt>Agt	p.G487S	ZNF99_ENST00000397104.3_Missense_Mutation_p.G396S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTACCACATTCTTCA	0.353																																						dbGAP											0													47.0	48.0	48.0					19																	22941252		2021	4198	6219	-	-	-	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1459G>A	19.37:g.22941252C>T	ENSP00000472969:p.Gly487Ser		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G396S	ENST00000596209.1	37	c.1186	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	c	16.69	3.192691	0.58017	.	.	ENSG00000213973	ENST00000397104	T	0.57752	0.38	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56441	0.1985	L	0.31476	0.935	0.33108	D	0.540158	D	0.71674	0.998	D	0.71870	0.975	T	0.64850	-0.6310	9	0.87932	D	0	.	9.5079	0.39058	0.0:1.0:0.0:0.0	.	396	A8MXY4	ZNF99_HUMAN	S	396	ENSP00000380293:G396S	ENSP00000380293:G396S	G	-	1	0	ZNF99	22733092	0.044000	0.20184	0.005000	0.12908	0.212000	0.24457	0.254000	0.18314	0.680000	0.31366	0.400000	0.26472	GGT	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	309	0.00	0	C	XM_065124		22941252	22941252	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	386	31.44	177	SNP	0.964	T
ZXDA	7789	genome.wustl.edu	37	X	57935843	57935843	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A084-01A-21W-A019-09	TCGA-A8-A084-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f6f7048-5b7a-4827-af2b-cfecc4a60025	23dc2b83-850f-4ae8-9e10-d7263ef23617	g.chrX:57935843C>A	ENST00000358697.4	-	1	1224	c.1012G>T	c.(1012-1014)Ggc>Tgc	p.G338C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	338	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AAGCTCTTGCCACAGCCCTCC	0.602																																						dbGAP											0													47.0	44.0	45.0					X																	57935843		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1012G>T	X.37:g.57935843C>A	ENSP00000351530:p.Gly338Cys		Q9UJP7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G338C	ENST00000358697.4	37	c.1012	CCDS14376.1	X	.	.	.	.	.	.	.	.	.	.	.	17.34	3.365578	0.61513	.	.	ENSG00000198205	ENST00000358697	T	0.60040	0.22	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112791	0.64402	D	0.000016	T	0.76513	0.3998	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80046	-0.1546	9	.	.	.	.	11.7709	0.51958	0.0:1.0:0.0:0.0	.	338	P98168	ZXDA_HUMAN	C	338	ENSP00000351530:G338C	.	G	-	1	0	ZXDA	57952568	0.997000	0.39634	0.985000	0.45067	0.848000	0.48234	2.494000	0.45329	1.917000	0.55516	0.415000	0.27848	GGC	ZXDA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198205		0.602	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	26	0.00	0	C	NM_007156		57935843	57935843	-1	no_errors	ENST00000358697	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	A
