#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAM32	203102	genome.wustl.edu	37	8	39080597	39080597	+	Missense_Mutation	SNP	T	T	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:39080597T>G	ENST00000379907.4	+	14	1492	c.1365T>G	c.(1363-1365)caT>caG	p.H455Q	ADAM32_ENST00000437682.2_Missense_Mutation_p.H356Q|ADAM32_ENST00000519315.1_Missense_Mutation_p.H349Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	455	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CGAAAGCACATCCTGAATGTG	0.323																																																	0													62.0	57.0	59.0					8																	39080597		1877	4105	5982	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1365T>G	8.37:g.39080597T>G	ENSP00000369238:p.His455Gln		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.H455Q	ENST00000379907.4	37	c.1365	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310036	0.40895	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.10960	4.09;4.15;2.82	5.55	3.18	0.36537	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.34411	N	0.003988	T	0.18299	0.0439	L	0.45228	1.405	0.09310	N	1	D;P;B	0.63880	0.993;0.955;0.295	D;P;B	0.65987	0.94;0.677;0.356	T	0.07046	-1.0793	10	0.27785	T	0.31	.	7.171	0.25719	0.0:0.1782:0.0:0.8218	.	356;349;455	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	356;349;455	ENSP00000405978:H356Q;ENSP00000429422:H349Q;ENSP00000369238:H455Q	ENSP00000369238:H455Q	H	+	3	2	ADAM32	39199754	0.017000	0.18338	0.012000	0.15200	0.036000	0.12997	0.263000	0.18478	0.485000	0.27652	0.533000	0.62120	CAT	ADAM32	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	T	NM_145004		39080597	+1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	0.027	G
ADCY8	114	genome.wustl.edu	37	8	132052022	132052022	+	Silent	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:132052022G>A	ENST00000286355.5	-	1	2650	c.558C>T	c.(556-558)aaC>aaT	p.N186N	ADCY8_ENST00000377928.3_Silent_p.N186N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	186					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGTCCAGCACGTTCATCACCA	0.567										HNSCC(32;0.087)																																							0													95.0	97.0	96.0					8																	132052022		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.558C>T	8.37:g.132052022G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.N186	ENST00000286355.5	37	c.558	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132052022	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A
ANGPTL1	9068	genome.wustl.edu	37	1	178822864	178822864	+	Silent	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:178822864A>G	ENST00000234816.2	-	4	1329	c.882T>C	c.(880-882)taT>taC	p.Y294Y	ANGPTL1_ENST00000367629.1_Silent_p.Y294Y|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	294	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTTTAATCATATAAATCCCAC	0.383																																																	0													106.0	101.0	102.0					1																	178822864		2203	4300	6503	SO:0001819	synonymous_variant	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.882T>C	1.37:g.178822864A>G			Q5T5Z5	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.Y294	ENST00000234816.2	37	c.882	CCDS1327.1	1																																																																																			ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	A	NM_004673		178822864	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	silent	SNP	0.908	G
ARID1A	8289	genome.wustl.edu	37	1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:27057988C>T	ENST00000324856.7	+	3	2067	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q566*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q183*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	566	Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													156.0	158.0	157.0					1																	27057988		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1696C>T	1.37:g.27057988C>T	ENSP00000320485:p.Gln566*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q566*	ENST00000324856.7	37	c.1696	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.122945	0.97305	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.058016	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.4504	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	566;566;183	.	ENSP00000320485:Q566X	Q	+	1	0	ARID1A	26930575	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.822000	0.39052	2.824000	0.97209	0.655000	0.94253	CAG	ARID1A	-	NULL		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057988	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARHGEF2	9181	genome.wustl.edu	37	1	155920934	155920934	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:155920934G>A	ENST00000361247.4	-	20	2488	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P769S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P798S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P769S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P842S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P796S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	797					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P769S(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCTTTTCAGGGGCCACAGGG	0.682																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - Missense(1)	skin(1)											9.0	10.0	10.0					1																	155920934		2197	4290	6487	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2389C>T	1.37:g.155920934G>A	ENSP00000354837:p.Pro797Ser		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P798S	ENST00000361247.4	37	c.2392	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808924	0.16537	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000321	T	0.04543	0.0124	N	0.14661	0.345	0.30221	N	0.79685	P;B;B;P	0.43477	0.664;0.279;0.4;0.808	B;B;B;B	0.36808	0.164;0.117;0.233;0.222	T	0.25467	-1.0131	10	0.21014	T	0.42	-16.6893	12.062	0.53568	0.0:0.1731:0.8269:0.0	.	841;797;796;798	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	S	769;797;798;769;796	ENSP00000315325:P769S;ENSP00000354837:P797S;ENSP00000357298:P798S;ENSP00000357299:P769S;ENSP00000314787:P796S	ENSP00000314787:P796S	P	-	1	0	ARHGEF2	154187558	0.008000	0.16893	0.391000	0.26233	0.049000	0.14656	1.770000	0.38532	2.762000	0.94881	0.655000	0.94253	CCT	ARHGEF2	-	NULL		0.682	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155920934	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	0.811	A
APOBEC4	403314	genome.wustl.edu	37	1	183617796	183617796	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:183617796C>A	ENST00000308641.4	-	2	392	c.121G>T	c.(121-123)Gca>Tca	p.A41S	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	41					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAAACTCTTGCTTCTTCACCT	0.368																																																	0													105.0	101.0	102.0					1																	183617796		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.121G>T	1.37:g.183617796C>A	ENSP00000310622:p.Ala41Ser		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.A41S	ENST00000308641.4	37	c.121	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320765	0.60634	.	.	ENSG00000173627	ENST00000308641	T	0.15372	2.43	5.55	5.55	0.83447	.	0.131950	0.32753	N	0.005685	T	0.14056	0.0340	N	0.19112	0.55	0.35340	D	0.786383	P	0.47604	0.898	B	0.43701	0.428	T	0.12400	-1.0549	10	0.39692	T	0.17	-22.7054	14.003	0.64444	0.1515:0.8485:0.0:0.0	.	41	Q8WW27	ABEC4_HUMAN	S	41	ENSP00000310622:A41S	ENSP00000310622:A41S	A	-	1	0	APOBEC4	181884419	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.943000	0.49026	2.607000	0.88179	0.655000	0.94253	GCA	APOBEC4	-	NULL		0.368	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617796	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP8B3	148229	genome.wustl.edu	37	19	1807256	1807256	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:1807256C>T	ENST00000310127.6	-	6	764	c.526G>A	c.(526-528)Gac>Aac	p.D176N	ATP8B3_ENST00000526092.2_Missense_Mutation_p.D123N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.D176N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D123N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	176					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTGGAGATGTCGGGAATGCTC	0.647																																																	0													129.0	155.0	146.0					19																	1807256		2199	4284	6483	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.526G>A	19.37:g.1807256C>T	ENSP00000311336:p.Asp176Asn		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,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.D176N	ENST00000310127.6	37	c.526	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	t	9.174	1.021953	0.19433	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	3.87	2.82	0.32997	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.390087	0.25238	N	0.032111	T	0.81375	0.4809	N	0.13327	0.33	0.09310	N	1	D;P;P	0.63046	0.992;0.659;0.59	P;B;B	0.46510	0.519;0.076;0.072	T	0.74306	-0.3708	10	0.62326	D	0.03	.	10.6899	0.45864	0.0:0.9034:0.0:0.0966	.	123;176;123	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	N	176;176;123;123;123	ENSP00000311336:D176N;ENSP00000443574:D176N;ENSP00000437115:D123N;ENSP00000445204:D123N	ENSP00000311336:D176N	D	-	1	0	ATP8B3	1758256	0.044000	0.20184	0.437000	0.26809	0.057000	0.15508	2.461000	0.45040	0.607000	0.29982	-0.232000	0.12228	GAC	ATP8B3	-	tigrfam_ATPase_P-typ_Plipid-transl		0.647	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	C	NM_138813		1807256	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	missense	SNP	0.087	T
B3GALT4	8705	genome.wustl.edu	37	6	33245425	33245425	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:33245425G>A	ENST00000451237.1	+	1	509	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	77					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCTCATCCTGGTGTGCACGGC	0.692																																																	0													51.0	63.0	59.0					6																	33245425		2191	4296	6487	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.229G>A	6.37:g.33245425G>A	ENSP00000390784:p.Val77Met			Missense_Mutation	SNP	pfam_Glyco_trans_31	p.V77M	ENST00000451237.1	37	c.229	CCDS34425.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717169	0.89205	.	.	ENSG00000235863	ENST00000451237	T	0.63255	-0.03	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000005	T	0.60495	0.2273	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.67991	-0.5527	10	0.87932	D	0	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	77	O96024	B3GT4_HUMAN	M	77	ENSP00000390784:V77M	ENSP00000390784:V77M	V	+	1	0	B3GALT4	33353403	1.000000	0.71417	0.992000	0.48379	0.862000	0.49288	5.778000	0.68940	2.356000	0.79943	0.549000	0.68633	GTG	B3GALT4	-	NULL		0.692	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	G			33245425	+1	no_errors	ENST00000451237	ensembl	human	known	70_37	missense	SNP	1.000	A
CDCA4	55038	genome.wustl.edu	37	14	105476633	105476633	+	3'UTR	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr14:105476633G>T	ENST00000336219.3	-	0	1789				CDCA4_ENST00000392590.3_3'UTR	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4							nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TCCTCACCCAGGGCAGGTGCA	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	122616			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.*908C>A	14.37:g.105476633G>T			Q8TB18|Q9NWK7	RNA	SNP	-	NULL	ENST00000336219.3	37	NULL	CCDS9996.1	14																																																																																			C14orf79	-	-		0.552	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf79	HGNC	protein_coding	OTTHUMT00000410311.1	G	NM_145701		105476633	+1	no_errors	ENST00000548178	ensembl	human	known	70_37	rna	SNP	0.000	T
C15orf62	643338	genome.wustl.edu	37	15	41062838	41062838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr15:41062838C>T	ENST00000344320.6	+	1	680	c.145C>T	c.(145-147)Cga>Tga	p.R49*	DNAJC17_ENST00000558727.1_5'Flank|DNAJC17_ENST00000220496.4_Intron	NM_001130448.2	NP_001123920.1	A8K5M9	CO062_HUMAN	chromosome 15 open reading frame 62	49						mitochondrion (GO:0005739)											GTACAGCAACCGAGAAGTCAT	0.697																																																	0													43.0	56.0	52.0					15																	41062838		692	1591	2283	SO:0001587	stop_gained	643338				CCDS45229.1	15q15.1	2008-08-07			ENSG00000188277	ENSG00000188277			34489	protein-coding gene	gene with protein product							Standard	NM_001130448		Approved	LOC643338	uc010bby.3	A8K5M9		ENST00000344320.6:c.145C>T	15.37:g.41062838C>T	ENSP00000341178:p.Arg49*		A6NK01	Nonsense_Mutation	SNP	NULL	p.R49*	ENST00000344320.6	37	c.145	CCDS45229.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.439760	0.98813	.	.	ENSG00000188277	ENST00000344320	.	.	.	5.48	3.55	0.40652	.	0.000000	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1009	12.4079	0.55451	0.5182:0.4818:0.0:0.0	.	.	.	.	X	49	.	ENSP00000341178:R49X	R	+	1	2	C15orf62	38850130	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.796000	0.26986	0.639000	0.30564	0.561000	0.74099	CGA	C15orf62	-	NULL		0.697	C15orf62-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf62	HGNC	protein_coding	OTTHUMT00000418995.1	C	NM_001130448		41062838	+1	no_errors	ENST00000344320	ensembl	human	known	70_37	nonsense	SNP	0.988	T
CCDC134	79879	genome.wustl.edu	37	22	42209804	42209805	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:42209804_42209805CA>TT	ENST00000255784.5	+	6	646_647	c.542_543CA>TT	c.(541-543)cCA>cTT	p.P181L	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	181						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TTCCAGAACCCATTTAAAATCG	0.564																																																	0																																										SO:0001583	missense	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	Exception_encountered	22.37:g.42209804_42209805delinsTT	ENSP00000255784:p.Pro181Leu			Missense_Mutation|Silent	SNP	NULL	p.P181L|p.P181	ENST00000255784.5	37	c.542|c.543	CCDS33654.1	22																																																																																			CCDC134	-	NULL		0.564	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	HGNC	protein_coding	OTTHUMT00000321964.1	C|A	NM_024821		42209804|42209805	+1	no_errors	ENST00000255784	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.989	T
CCDC78	124093	genome.wustl.edu	37	16	775082	775082	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:775082G>A	ENST00000293889.6	-	6	661	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	186					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				ACTCACACACGCGTCACCAGT	0.662																																																	0													61.0	62.0	61.0					16																	775082		2199	4299	6498	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.556C>T	16.37:g.775082G>A	ENSP00000293889:p.Arg186Cys		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	NULL	p.R186C	ENST00000293889.6	37	c.556	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817607	0.32145	.	.	ENSG00000162004	ENST00000293889	T	0.30182	1.54	4.59	2.56	0.30785	.	0.799419	0.10915	N	0.620125	T	0.20373	0.0490	N	0.25647	0.755	0.09310	N	1	B;B	0.17465	0.006;0.022	B;B	0.14578	0.007;0.011	T	0.21211	-1.0252	10	0.49607	T	0.09	.	5.9199	0.19076	0.0929:0.0:0.5717:0.3354	.	186;35	A2IDD5;D3DU61	CCD78_HUMAN;.	C	186	ENSP00000293889:R186C	ENSP00000293889:R186C	R	-	1	0	CCDC78	715083	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.848000	0.27710	0.612000	0.30071	0.561000	0.74099	CGT	CCDC78	-	NULL		0.662	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	G	NM_173476		775082	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	missense	SNP	0.000	A
CCND1	595	genome.wustl.edu	37	11	69466021	69466021	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:69466021C>A	ENST00000227507.2	+	5	1086	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P287S(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGCTTGCACACCCACCGACGT	0.716			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)			Dom	yes		11	11q13	595	cyclin D1		"""L, E"""	2	Substitution - Missense(2)	endometrium(2)											24.0	19.0	21.0					11																	69466021		2199	4292	6491	SO:0001583	missense	595			Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.859C>A	11.37:g.69466021C>A	ENSP00000227507:p.Pro287Thr		Q6LEF0	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.P287T	ENST00000227507.2	37	c.859	CCDS8191.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.366249	0.95900	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.17691	2.26	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57556	-0.7791	10	0.87932	D	0	.	19.5807	0.95467	0.0:1.0:0.0:0.0	.	287	P24385	CCND1_HUMAN	T	287;153	ENSP00000227507:P287T	ENSP00000227507:P287T	P	+	1	0	CCND1	69175202	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.101000	0.76997	2.623000	0.88846	0.655000	0.94253	CCC	CCND1	-	NULL		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND1	HGNC	protein_coding	OTTHUMT00000396775.2	C	NM_053056		69466021	+1	no_errors	ENST00000227507	ensembl	human	known	70_37	missense	SNP	1.000	A
CD163	9332	genome.wustl.edu	37	12	7640635	7640635	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:7640635C>T	ENST00000359156.4	-	7	1671	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	CD163_ENST00000541972.1_Missense_Mutation_p.R478H|CD163_ENST00000432237.2_Missense_Mutation_p.R490H|CD163_ENST00000396620.3_Missense_Mutation_p.R490H|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTTCAACACGTCCAGAACA	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											61.0	52.0	55.0					12																	7640635		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1469G>A	12.37:g.7640635C>T	ENSP00000352071:p.Arg490His		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R490H	ENST00000359156.4	37	c.1469	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967874	0.92855	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.283835	0.30302	N	0.009934	T	0.64516	0.2605	M	0.82433	2.59	0.49687	D	0.999815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.993	T	0.69250	-0.5194	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	490;490;490	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	490;478;490;490	ENSP00000352071:R490H;ENSP00000444071:R478H;ENSP00000379863:R490H;ENSP00000403885:R490H	ENSP00000352071:R490H	R	-	2	0	CD163	7531902	0.616000	0.27035	1.000000	0.80357	0.979000	0.70002	3.317000	0.51968	2.663000	0.90544	0.655000	0.94253	CGT	CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416		7640635	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24593378	24593378	+	Silent	SNP	G	G	A	rs559158011		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:24593378G>A	ENST00000264463.4	-	2	729	c.222C>T	c.(220-222)taC>taT	p.Y74Y	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTGCCTACGTACTGATAAT	0.333										HNSCC(23;0.051)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15881	0.0		0.001	False		,,,				2504	0.0																0													115.0	116.0	116.0					5																	24593378		2203	4300	6503	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.222C>T	5.37:g.24593378G>A			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y74	ENST00000264463.4	37	c.222	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like		0.333	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24593378	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	silent	SNP	0.986	A
CNTNAP5	129684	genome.wustl.edu	37	2	125281921	125281921	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:125281921A>C	ENST00000431078.1	+	9	1730	c.1366A>C	c.(1366-1368)Aac>Cac	p.N456H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTTAGCATCAACGCCAGGAG	0.507																																																	0													77.0	83.0	81.0					2																	125281921		2080	4223	6303	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1366A>C	2.37:g.125281921A>C	ENSP00000399013:p.Asn456His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N456H	ENST00000431078.1	37	c.1366	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810591	0.50421	.	.	ENSG00000155052	ENST00000431078	T	0.77877	-1.13	5.95	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.519773	0.16940	N	0.193320	D	0.84492	0.5484	L	0.61036	1.89	0.46542	D	0.999095	D	0.57257	0.979	D	0.63113	0.911	T	0.83041	-0.0157	10	0.49607	T	0.09	.	12.4564	0.55706	0.8599:0.1401:0.0:0.0	.	456	Q8WYK1	CNTP5_HUMAN	H	456	ENSP00000399013:N456H	ENSP00000399013:N456H	N	+	1	0	CNTNAP5	124998391	1.000000	0.71417	0.819000	0.32651	0.469000	0.32828	5.119000	0.64679	1.042000	0.40150	0.533000	0.62120	AAC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	A			125281921	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	0.990	C
COL7A1	1294	genome.wustl.edu	37	3	48629870	48629870	+	Missense_Mutation	SNP	T	T	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:48629870T>G	ENST00000328333.8	-	8	1114	c.1007A>C	c.(1006-1008)cAg>cCg	p.Q336P	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q336P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	336	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGTATTCTGGATGGTCAG	0.627																																																	0													38.0	40.0	40.0					3																	48629870		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1007A>C	3.37:g.48629870T>G	ENSP00000332371:p.Gln336Pro		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q336P	ENST00000328333.8	37	c.1007	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	T	7.742	0.701580	0.15172	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57273	0.41;0.41	3.55	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40064	N	0.001193	T	0.46347	0.1388	L	0.59436	1.845	0.35816	D	0.824248	B	0.20887	0.049	B	0.23716	0.048	T	0.52793	-0.8528	10	0.29301	T	0.29	.	9.9201	0.41459	0.0:0.0:0.0:1.0	.	336	Q02388	CO7A1_HUMAN	P	336	ENSP00000332371:Q336P;ENSP00000412569:Q336P	ENSP00000332371:Q336P	Q	-	2	0	COL7A1	48604874	0.987000	0.35691	1.000000	0.80357	0.937000	0.57800	1.381000	0.34362	1.634000	0.50500	0.379000	0.24179	CAG	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	T	NM_000094		48629870	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16945760	16945760	+	lincRNA	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:16945760A>G	ENST00000412962.1	-	0	1759				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AAAAGGGCACAACGGCAGTCA	0.562																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945760A>G			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.562	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	A	NR_026752.1		16945760	-1	no_errors	ENST00000412962	ensembl	human	known	70_37	rna	SNP	0.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16957475	16957475	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:16957475G>A	ENST00000412962.1	-	0	203							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGGCCTCTGCGGGGCGAACGG	0.716																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957475G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.716	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	G	NR_026752.1		16957475	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.999	A
DCLK3	85443	genome.wustl.edu	37	3	36756965	36756965	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:36756965G>A	ENST00000416516.2	-	5	2291	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTGTGTAGCGCTTTTTGGGG	0.517																																																	0													95.0	95.0	95.0					3																	36756965		1980	4151	6131	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1801C>T	3.37:g.36756965G>A	ENSP00000394484:p.Arg601Cys			Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom	p.R601C	ENST00000416516.2	37	c.1801	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476888	0.84640	.	.	ENSG00000163673	ENST00000416516	T	0.80738	-1.41	5.75	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32687	N	0.005766	D	0.94771	0.8312	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97566	1.0101	10	0.87932	D	0	.	16.6634	0.85247	0.0:0.0:0.8692:0.1308	.	601	Q9C098	DCLK3_HUMAN	C	601	ENSP00000394484:R601C	ENSP00000394484:R601C	R	-	1	0	DCLK3	36731969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.298000	0.59067	1.574000	0.49760	0.655000	0.94253	CGC	DCLK3	-	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,pfscan_Prot_kinase_cat_dom		0.517	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	G	XM_047355		36756965	-1	no_errors	ENST00000416516	ensembl	human	known	70_37	missense	SNP	1.000	A
CTNNB1	1499	genome.wustl.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	rs121913396|rs121913416		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											92.0	77.0	82.0					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>G	3.37:g.41266098A>G	ENSP00000344456:p.Asp32Gly		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.D32G	ENST00000349496.5	37	c.95	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308122	0.81247	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74137	-0.3762	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	G	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25G;ENSP00000385604:D32G;ENSP00000412219:D32G;ENSP00000379486:D32G;ENSP00000344456:D32G;ENSP00000411226:D25G;ENSP00000379488:D32G;ENSP00000409302:D32G;ENSP00000401599:D32G	ENSP00000344456:D32G	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC	CTNNB1	-	NULL		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	A	NM_001098210		41266098	+1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G
DMRTC2	63946	genome.wustl.edu	37	19	42351694	42351694	+	Silent	SNP	C	C	T	rs369030903		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:42351694C>T	ENST00000269945.3	+	2	249	c.198C>T	c.(196-198)tgC>tgT	p.C66C	DMRTC2_ENST00000596827.1_Silent_p.C66C|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000330743.3_5'Flank	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	66					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCCAGGCTTGCGAGTGTCACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21209	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	71.0	61.0	64.0		198	4.3	1.0	19	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	DMRTC2	NM_001040283.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		66/368	42351694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63946			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.198C>T	19.37:g.42351694C>T			Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.C66	ENST00000269945.3	37	c.198	CCDS33034.1	19																																																																																			DMRTC2	-	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd		0.607	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	C	NM_001040283		42351694	+1	no_errors	ENST00000269945	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAAF3	352909	genome.wustl.edu	37	19	55672141	55672141	+	Silent	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:55672141C>T	ENST00000524407.2	-	9	948	c.915G>A	c.(913-915)acG>acA	p.T305T	DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000455045.1_Silent_p.T251T|DNAAF3_ENST00000527223.2_Silent_p.T373T|DNAAF3_ENST00000391720.4_Silent_p.T352T|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	305					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TCTCCCCGGCCGTCTAACAGT	0.697																																																	0													23.0	25.0	24.0					19																	55672141		1901	4089	5990	SO:0001819	synonymous_variant	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.915G>A	19.37:g.55672141C>T			A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.T373	ENST00000524407.2	37	c.1119	CCDS59422.1	19																																																																																			DNAAF3	-	NULL		0.697	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	C	NM_178837		55672141	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	silent	SNP	0.002	T
DNAH2	146754	genome.wustl.edu	37	17	7701562	7701562	+	Missense_Mutation	SNP	G	G	A	rs374110523		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr17:7701562G>A	ENST00000572933.1	+	54	9778	c.8318G>A	c.(8317-8319)cGc>cAc	p.R2773H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2773H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2773	AAA 4. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCTGGCCCGCCTGGCTTCA	0.602																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	51.0	51.0		8318	4.6	1.0	17		51	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2773/4428	7701562	1,13005	2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8318G>A	17.37:g.7701562G>A	ENSP00000458355:p.Arg2773His		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R2773H	ENST00000572933.1	37	c.8318	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	g	17.66	3.445691	0.63178	2.27E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57273	0.41	5.6	4.64	0.57946	Dynein heavy chain, P-loop containing D4 domain (1);	0.216352	0.39475	N	0.001355	T	0.78233	0.4251	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84213	0.0457	10	0.87932	D	0	.	15.6512	0.77095	0.0:0.138:0.862:0.0	.	2773	Q9P225	DYH2_HUMAN	H	2773	ENSP00000373825:R2773H	ENSP00000353818:R2773H	R	+	2	0	DNAH2	7642287	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.856000	0.62932	1.384000	0.46424	-0.371000	0.07208	CGC	DNAH2	-	NULL		0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7701562	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.999	A
ELP2	55250	genome.wustl.edu	37	18	33713236	33713236	+	Silent	SNP	C	C	A	rs150889303		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr18:33713236C>A	ENST00000358232.6	+	2	237	c.174C>A	c.(172-174)acC>acA	p.T58T	ELP2_ENST00000350494.6_Silent_p.T58T|ELP2_ENST00000351393.6_Silent_p.T58T|ELP2_ENST00000423854.2_Silent_p.T58T|ELP2_ENST00000542824.1_Silent_p.T58T|ELP2_ENST00000442325.2_Silent_p.T58T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	58					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGGTCACACCGCCCGAGTCA	0.318																																																	0													104.0	100.0	102.0					18																	33713236		2203	4300	6503	SO:0001819	synonymous_variant	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.174C>A	18.37:g.33713236C>A			A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T58	ENST00000358232.6	37	c.174	CCDS11918.1	18																																																																																			ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.318	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33713236	+1	no_errors	ENST00000358232	ensembl	human	known	70_37	silent	SNP	0.999	A
ADD3-AS1	100505933	genome.wustl.edu	37	10	111702545	111702545	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:111702545C>A	ENST00000369657.1	-	2	209	c.194G>T	c.(193-195)gGt>gTt	p.G65V	RP11-451M19.3_ENST00000538668.1_Missense_Mutation_p.G65V																							AATGGAGATACCTGCTACCAC	0.567																																																	0																																										SO:0001583	missense	0																														ENST00000369657.1:c.194G>T	10.37:g.111702545C>A	ENSP00000358671:p.Gly65Val			Missense_Mutation	SNP	NULL	p.G65V	ENST00000369657.1	37	c.194		10	.	.	.	.	.	.	.	.	.	.	C	8.655	0.899189	0.17686	.	.	ENSG00000203876	ENST00000369657;ENST00000538668	.	.	.	2.96	-1.28	0.09318	.	.	.	.	.	T	0.32466	0.0830	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42050	-0.9474	4	0.87932	D	0	.	0.6185	0.00774	0.1669:0.303:0.2626:0.2675	.	.	.	.	V	65	.	ENSP00000358671:G65V	G	-	2	0	RP11-451M19.3	111692535	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.393000	0.07305	-0.286000	0.09076	-0.137000	0.14449	GGT	RP11-451M19.3	-	NULL		0.567	RP11-451M19.3-002	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000203876	Clone_based_vega_gene	protein_coding	OTTHUMT00000050249.1	C			111702545	-1	no_errors	ENST00000369657	ensembl	human	known	70_37	missense	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000212.1	65793	65793	+	IGR	SNP	T	T	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrGL000212.1:65793T>A								None (None upstream) : None (None downstream)																							CGCCCACGGCTTCGCTAACGA	0.642																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65793T>A				Silent	SNP	NULL	p.A514		37	c.1542		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.642					ENSG00000212857	Clone_based_ensembl_gene			T			65793	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	GL000212.1	65807	65807	+	IGR	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrGL000212.1:65807C>T								None (None upstream) : None (None downstream)																							CTAACGAGGACGCCCTCCACG	0.622																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65807C>T				Missense_Mutation	SNP	NULL	p.T519M		37	c.1556		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.622					ENSG00000212857	Clone_based_ensembl_gene			C			65807	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	missense	SNP	NULL	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65811	65811	+	IGR	SNP	C	C	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrGL000212.1:65811C>G								None (None upstream) : None (None downstream)																							CGAGGACGCCCTCCACGGCAT	0.617																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65811C>G				Silent	SNP	NULL	p.P520		37	c.1560		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.617					ENSG00000212857	Clone_based_ensembl_gene			C			65811	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	G
RP11-196D18.1	0	genome.wustl.edu	37	7	62514788	62514788	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:62514788C>T	ENST00000450891.1	-	0	21																											TCCGCCGCGGCGCAGCCGCCG	0.726																																																	0																																												0																															7.37:g.62514788C>T				RNA	SNP	-	NULL	ENST00000450891.1	37	NULL		7																																																																																			RP11-196D18.1	-	-		0.726	RP11-196D18.1-001	KNOWN	basic	lincRNA	ENSG00000227148	Clone_based_vega_gene	lincRNA	OTTHUMT00000343683.1	C			62514788	-1	no_errors	ENST00000450891	ensembl	human	known	70_37	rna	SNP	0.031	T
KRT8P11	347265	genome.wustl.edu	37	9	102067846	102067846	+	IGR	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr9:102067846C>T								RN7SKP225 (21191 upstream) : NAMA (49845 downstream)																							CTCGGAGTAACATGGACAACA	0.547																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.102067846C>T				Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.N151		37	c.453		9																																																																																			KRT8P11	-	pfam_F	0	0.547					ENSG00000259197	Uniprot_genename			C			102067846	+1	no_errors	ENST00000409686	ensembl	human	known	70_37	silent	SNP	1.000	T
EYA1	2138	genome.wustl.edu	37	8	72182004	72182004	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:72182004T>C	ENST00000340726.3	-	11	1660	c.1021A>G	c.(1021-1023)Act>Gct	p.T341A	EYA1_ENST00000388741.2_Missense_Mutation_p.T307A|EYA1_ENST00000388743.2_Missense_Mutation_p.T340A|EYA1_ENST00000388740.3_Missense_Mutation_p.T308A|EYA1_ENST00000303824.7_Missense_Mutation_p.T335A|EYA1_ENST00000388742.4_Missense_Mutation_p.T341A|EYA1_ENST00000419131.1_Missense_Mutation_p.T336A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	341					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAGGACCCAGTAAGCAAGGAG	0.398																																																	0													165.0	150.0	155.0					8																	72182004		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1021A>G	8.37:g.72182004T>C	ENSP00000342626:p.Thr341Ala		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.T341A	ENST00000340726.3	37	c.1021	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941147	0.92526	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-1.56	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.66506	2.035	0.80722	D	1	D;D;D;P;D	0.58620	0.983;0.962;0.962;0.954;0.966	D;P;P;D;P	0.68039	0.955;0.764;0.821;0.93;0.881	D	0.98185	1.0459	10	0.46703	T	0.11	-14.2268	16.2479	0.82454	0.0:0.0:0.0:1.0	.	335;268;308;341;336	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	A	341;341;309;308;335;307;340;336	ENSP00000373394:T341A;ENSP00000342626:T341A;ENSP00000373392:T308A;ENSP00000303221:T335A;ENSP00000373393:T307A;ENSP00000373395:T340A;ENSP00000410176:T336A	ENSP00000303221:T335A	T	-	1	0	EYA1	72344558	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.649000	0.83500	2.241000	0.73720	0.533000	0.62120	ACT	EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.398	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	T	NM_000503, NM_172060		72182004	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM182A	284800	genome.wustl.edu	37	20	26061832	26061832	+	RNA	SNP	A	A	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr20:26061832A>C	ENST00000376398.2	+	0	852					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						AGAAATGGTGAGAGAACTTTG	0.473																																																	0													20.0	16.0	17.0					20																	26061832		692	1588	2280			284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061832A>C			A2RRD0|Q8N947	Silent	SNP	NULL	p.R62	ENST00000376398.2	37	c.184		20																																																																																			FAM182A	-	NULL		0.473	FAM182A-001	KNOWN	basic	lincRNA	FAM182A	HGNC	processed_transcript	OTTHUMT00000078473.2	A			26061832	+1	no_errors	ENST00000246000	ensembl	human	known	70_37	silent	SNP	0.200	C
FOXRED2	80020	genome.wustl.edu	37	22	36900295	36900295	+	Missense_Mutation	SNP	G	G	A	rs143739893		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:36900295G>A	ENST00000397224.4	-	4	992	c.899C>T	c.(898-900)cCg>cTg	p.P300L	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P300L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P300L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	300					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAGAATTTCGGGGTGACATG	0.567																																																	0								G	LEU/PRO,LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	111.0	85.0	94.0		899,899	4.0	0.6	22	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	FOXRED2	NM_001102371.1,NM_024955.5	98,98	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	300/685,300/685	36900295	3,13003	2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.899C>T	22.37:g.36900295G>A	ENSP00000380401:p.Pro300Leu		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.P300L	ENST00000397224.4	37	c.899	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312360	0.05422	6.81E-4	0.0	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.11821	2.74;2.74;2.74	5.0	3.97	0.46021	.	0.238434	0.32640	N	0.005825	T	0.02012	0.0063	N	0.00099	-2.14	0.28446	N	0.916554	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	10	0.02654	T	1	-10.7568	6.2563	0.20876	0.7843:0.0:0.0754:0.1403	.	300	Q8IWF2	FXRD2_HUMAN	L	300	ENSP00000380401:P300L;ENSP00000216187:P300L;ENSP00000380400:P300L	ENSP00000216187:P300L	P	-	2	0	FOXRED2	35230241	0.998000	0.40836	0.640000	0.29408	0.710000	0.40934	4.063000	0.57499	0.923000	0.37045	-0.295000	0.09555	CCG	FOXRED2	-	NULL		0.567	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	G	NM_024955		36900295	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	0.805	A
GFPT1	2673	genome.wustl.edu	37	2	69573041	69573041	+	Missense_Mutation	SNP	T	T	G	rs139562843		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:69573041T>G	ENST00000357308.4	-	12	1278	c.1100A>C	c.(1099-1101)tAt>tCt	p.Y367S	GFPT1_ENST00000361060.5_Missense_Mutation_p.Y349S	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	367	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATTACCAGTATAGTCATCAAA	0.363																																																	0													102.0	101.0	101.0					2																	69573041		2202	4300	6502	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1100A>C	2.37:g.69573041T>G	ENSP00000349860:p.Tyr367Ser		Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.Y367S	ENST00000357308.4	37	c.1100	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	T	7.942	0.743017	0.15642	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.70399	-0.48;-0.48	4.8	3.62	0.41486	.	0.165654	0.53938	D	0.000053	T	0.33440	0.0863	N	0.00729	-1.24	0.37218	D	0.9051	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	10	0.11485	T	0.65	-9.807	8.6994	0.34316	0.3046:0.0:0.0:0.6954	.	349	Q06210-2	.	S	367;349	ENSP00000349860:Y367S;ENSP00000354347:Y349S	ENSP00000349860:Y367S	Y	-	2	0	GFPT1	69426545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.775000	0.55349	0.935000	0.37341	-0.333000	0.08304	TAT	GFPT1	-	tigrfam_GlmS_trans		0.363	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		T			69573041	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	missense	SNP	1.000	G
GFPT2	9945	genome.wustl.edu	37	5	179757762	179757762	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:179757762C>T	ENST00000253778.8	-	6	641	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	158	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTCTGTTGTCGAACACATAT	0.438																																																	0													207.0	187.0	193.0					5																	179757762		1967	4145	6112	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.472G>A	5.37:g.179757762C>T	ENSP00000253778:p.Asp158Asn		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D158N	ENST00000253778.8	37	c.472	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.573973	0.96553	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76839	-1.05;-1.05	5.83	5.83	0.93111	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.59436	1.845	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.69254	-0.5193	9	.	.	.	-44.4492	20.1218	0.97964	0.0:1.0:0.0:0.0	.	158	O94808	GFPT2_HUMAN	N	158;60	ENSP00000253778:D158N;ENSP00000431125:D60N	.	D	-	1	0	GFPT2	179690368	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.618000	0.83043	2.763000	0.94921	0.561000	0.74099	GAC	GFPT2	-	pfam_GATase_dom		0.438	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179757762	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T
GMCL1	64395	genome.wustl.edu	37	2	70057063	70057063	+	Missense_Mutation	SNP	A	A	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:70057063A>T	ENST00000282570.3	+	1	290	c.39A>T	c.(37-39)agA>agT	p.R13S	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCAGCCAAGACCAGCCCTTG	0.706																																																	0													7.0	9.0	8.0					2																	70057063		2170	4232	6402	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.39A>T	2.37:g.70057063A>T	ENSP00000282570:p.Arg13Ser		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R13S	ENST00000282570.3	37	c.39	CCDS1895.1	2	.	.	.	.	.	.	.	.	.	.	A	7.272	0.607321	0.14002	.	.	ENSG00000087338	ENST00000282570	T	0.52754	0.65	4.59	1.57	0.23409	.	0.612910	0.16538	N	0.210071	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15263	-1.0443	10	0.27082	T	0.32	-4.1951	5.8938	0.18927	0.1845:0.1592:0.6563:0.0	.	13	Q96IK5	GMCL1_HUMAN	S	13	ENSP00000282570:R13S	ENSP00000282570:R13S	R	+	3	2	GMCL1	69910567	0.895000	0.30542	0.495000	0.27527	0.002000	0.02628	0.081000	0.14823	0.234000	0.21139	-0.292000	0.09595	AGA	GMCL1	-	NULL		0.706	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	HGNC	protein_coding	OTTHUMT00000251841.2	A	NM_178439		70057063	+1	no_errors	ENST00000282570	ensembl	human	known	70_37	missense	SNP	0.339	T
GNPTAB	79158	genome.wustl.edu	37	12	102179808	102179808	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:102179808A>G	ENST00000299314.7	-	5	815	c.553T>C	c.(553-555)Ttt>Ctt	p.F185L	GNPTAB_ENST00000549940.1_Missense_Mutation_p.F185L	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	185					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTACTGTCAAAAACAACAACT	0.328																																																	0													72.0	72.0	72.0					12																	102179808		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.553T>C	12.37:g.102179808A>G	ENSP00000299314:p.Phe185Leu		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.F185L	ENST00000299314.7	37	c.553	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902347	0.72754	.	.	ENSG00000111670	ENST00000299314;ENST00000549940;ENST00000552681	D;D;T	0.97994	-4.53;-4.65;-1.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	L	0.52364	1.645	0.80722	D	1	B;P	0.49783	0.226;0.928	B;B	0.41666	0.192;0.363	D	0.96347	0.9255	10	0.87932	D	0	-17.5224	14.9653	0.71188	1.0:0.0:0.0:0.0	.	185;185	Q3T906-2;Q3T906	.;GNPTA_HUMAN	L	185;185;63	ENSP00000299314:F185L;ENSP00000449150:F185L;ENSP00000449217:F63L	ENSP00000299314:F185L	F	-	1	0	GNPTAB	100703939	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.798000	0.91888	2.326000	0.78906	0.533000	0.62120	TTT	GNPTAB	-	NULL		0.328	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	A			102179808	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	G
GOLGA8O	728047	genome.wustl.edu	37	15	32743123	32743123	+	Missense_Mutation	SNP	C	C	A	rs572957836	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr15:32743123C>A	ENST00000509311.2	-	8	679	c.582G>T	c.(580-582)aaG>aaT	p.K194N	GOLGA8O_ENST00000414865.2_Intron	NM_001277308.1	NP_001264237.1	A6NCC3	GOG8O_HUMAN	golgin A8 family, member O	194						Golgi apparatus (GO:0005794)											CCTGGTTTGCCTTCTTCTTCT	0.562																																																	0																																										SO:0001583	missense	728047				CCDS59252.1	15q13.3	2012-10-05			ENSG00000206127	ENSG00000206127			44406	protein-coding gene	gene with protein product							Standard	NM_001277308		Approved		uc031qrg.1	A6NCC3	OTTHUMG00000162878	ENST00000509311.2:c.582G>T	15.37:g.32743123C>A	ENSP00000423159:p.Lys194Asn		A6NHZ1|E7ENU5	Missense_Mutation	SNP	NULL	p.K194N	ENST00000509311.2	37	c.582	CCDS59252.1	15	.	.	.	.	.	.	.	.	.	.	c	9.800	1.180348	0.21787	.	.	ENSG00000206127	ENST00000509311	T	0.23552	1.9	1.61	1.61	0.23674	.	.	.	.	.	T	0.30230	0.0758	L	0.60845	1.875	0.21147	N	0.999774	.	.	.	.	.	.	T	0.16364	-1.0405	7	0.45353	T	0.12	.	6.8098	0.23799	0.0:1.0:0.0:0.0	.	.	.	.	N	194	ENSP00000423159:K194N	ENSP00000423159:K194N	K	-	3	2	RP11-632K20.1	30530415	0.196000	0.23350	0.063000	0.19743	0.048000	0.14542	0.233000	0.17911	1.236000	0.43740	0.074000	0.15403	AAG	GOLGA8O	-	NULL		0.562	GOLGA8O-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8O	HGNC	protein_coding	OTTHUMT00000370931.3	C			32743123	-1	no_errors	ENST00000509311	ensembl	human	novel	70_37	missense	SNP	0.095	A
GPR78	27201	genome.wustl.edu	37	4	8583293	8583293	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr4:8583293T>C	ENST00000382487.4	+	1	1001	c.584T>C	c.(583-585)gTg>gCg	p.V195A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	195					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGCTCCAGGTGCACCGGGTG	0.697																																																	0													8.0	8.0	8.0					4																	8583293		2162	4196	6358	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.584T>C	4.37:g.8583293T>C	ENSP00000371927:p.Val195Ala		Q8NGV3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V195A	ENST00000382487.4	37	c.584	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701205	0.48307	.	.	ENSG00000155269	ENST00000382487	T	0.39056	1.1	2.24	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000014	T	0.53722	0.1814	L	0.56199	1.76	0.38655	D	0.951939	D	0.71674	0.998	D	0.71870	0.975	T	0.57075	-0.7873	10	0.87932	D	0	.	8.9426	0.35740	0.0:0.0:0.0:1.0	.	195	Q96P69	GPR78_HUMAN	A	195	ENSP00000371927:V195A	ENSP00000371927:V195A	V	+	2	0	GPR78	8634193	1.000000	0.71417	0.009000	0.14445	0.109000	0.19521	4.835000	0.62781	0.617000	0.30160	0.260000	0.18958	GTG	GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	T			8583293	+1	no_errors	ENST00000382487	ensembl	human	known	70_37	missense	SNP	1.000	C
GTF2F1	2962	genome.wustl.edu	37	19	6380388	6380388	+	Silent	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:6380388G>A	ENST00000394456.5	-	13	1922	c.1458C>T	c.(1456-1458)agC>agT	p.S486S	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Silent_p.S401S	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	486					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTGTCTGCTCGCTGCTCAGCC	0.557																																																	0													227.0	210.0	216.0					19																	6380388		2203	4300	6503	SO:0001819	synonymous_variant	2962				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1458C>T	19.37:g.6380388G>A			B2RCS0|Q9BWN0	Silent	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.S486	ENST00000394456.5	37	c.1458	CCDS12165.1	19																																																																																			GTF2F1	-	pfam_TFIIF-alpha		0.557	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	G	NM_002096		6380388	-1	no_errors	ENST00000394456	ensembl	human	known	70_37	silent	SNP	1.000	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301																0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG				RNA	INS	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	-	NR_002164		72664016	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	INS	0.912:0.964	G
GYS2	2998	genome.wustl.edu	37	12	21711236	21711236	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:21711236C>A	ENST00000261195.2	-	11	1574	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	440					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACTGGGGGCAATGACTGTC	0.443																																					Colon(149;9 1820 3690 10544 50424)												0													178.0	146.0	157.0					12																	21711236		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1320G>T	12.37:g.21711236C>A	ENSP00000261195:p.Leu440Phe		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.L440F	ENST00000261195.2	37	c.1320	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726277	0.48833	.	.	ENSG00000111713	ENST00000261195	T	0.71222	-0.55	4.45	2.61	0.31194	.	0.000000	0.64402	D	0.000002	T	0.65069	0.2656	M	0.66939	2.045	0.54753	D	0.999989	B	0.17465	0.022	B	0.25405	0.06	T	0.60596	-0.7232	10	0.49607	T	0.09	-18.1353	6.3546	0.21395	0.0:0.5698:0.2686:0.1616	.	440	P54840	GYS2_HUMAN	F	440	ENSP00000261195:L440F	ENSP00000261195:L440F	L	-	3	2	GYS2	21602503	0.989000	0.36119	0.991000	0.47740	0.998000	0.95712	0.198000	0.17217	0.613000	0.30089	0.655000	0.94253	TTG	GYS2	-	pfam_Glycogen_synth		0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	C	NM_021957		21711236	-1	no_errors	ENST00000261195	ensembl	human	known	70_37	missense	SNP	0.901	A
IMPG2	50939	genome.wustl.edu	37	3	100964803	100964803	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:100964803G>T	ENST00000193391.7	-	12	1573	c.1386C>A	c.(1384-1386)caC>caA	p.H462Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	462					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGGCTAATTTGTGTGTAGACA	0.512																																																	0													109.0	112.0	111.0					3																	100964803		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1386C>A	3.37:g.100964803G>T	ENSP00000193391:p.His462Gln		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.H462Q	ENST00000193391.7	37	c.1386	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	8.628	0.893007	0.17613	.	.	ENSG00000081148	ENST00000193391	T	0.21031	2.03	5.87	1.61	0.23674	.	1.212820	0.05597	N	0.575682	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.039;0.022	B;B	0.06405	0.002;0.002	T	0.33394	-0.9870	10	0.21014	T	0.42	1.3072	5.288	0.15712	0.2953:0.0:0.5152:0.1895	.	462;462	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Q	462	ENSP00000193391:H462Q	ENSP00000193391:H462Q	H	-	3	2	IMPG2	102447493	0.966000	0.33281	0.004000	0.12327	0.958000	0.62258	0.235000	0.17948	0.388000	0.25054	0.655000	0.94253	CAC	IMPG2	-	NULL		0.512	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	G			100964803	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.000	T
KCNA6	3742	genome.wustl.edu	37	12	4919236	4919236	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:4919236C>T	ENST00000280684.3	+	1	895	c.29C>T	c.(28-30)gCg>gTg	p.A10V	KCNA6_ENST00000433855.1_Missense_Mutation_p.A10V|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	10					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTTACGCTGGCGGCGCCGGGG	0.716										HNSCC(72;0.22)																																							0													11.0	17.0	15.0					12																	4919236		2101	4154	6255	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.29C>T	12.37:g.4919236C>T	ENSP00000280684:p.Ala10Val			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A10V	ENST00000280684.3	37	c.29	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423377	0.43020	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97529	-4.42;-4.42	4.46	3.54	0.40534	.	0.315298	0.28307	N	0.015829	D	0.91472	0.7308	N	0.19112	0.55	0.37526	D	0.917733	B	0.06786	0.001	B	0.04013	0.001	D	0.86825	0.2007	10	0.30854	T	0.27	.	6.9284	0.24428	0.0:0.7254:0.1797:0.095	.	10	P17658	KCNA6_HUMAN	V	10	ENSP00000408321:A10V;ENSP00000280684:A10V	ENSP00000280684:A10V	A	+	2	0	KCNA6	4789497	0.777000	0.28628	1.000000	0.80357	0.994000	0.84299	0.216000	0.17585	1.037000	0.40024	0.462000	0.41574	GCG	KCNA6	-	prints_K_chnl_volt-dep_Kv1.6		0.716	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	C	NM_002235		4919236	+1	no_errors	ENST00000280684	ensembl	human	known	70_37	missense	SNP	1.000	T
KRAS	3845	genome.wustl.edu	37	12	25398257	25398257	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:25398257A>C	ENST00000256078.4	-	2	125	c.62T>G	c.(61-63)aTa>aGa	p.I21R	KRAS_ENST00000556131.1_Missense_Mutation_p.I21R|KRAS_ENST00000311936.3_Missense_Mutation_p.I21R|KRAS_ENST00000557334.1_Missense_Mutation_p.I21R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	21					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AATTAGCTGTATCGTCAAGGC	0.363		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	0													89.0	77.0	81.0					12																	25398257		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.62T>G	12.37:g.25398257A>C	ENSP00000256078:p.Ile21Arg		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I21R	ENST00000256078.4	37	c.62	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557632	0.86231	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79352	-1.26;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.974;0.989	D	0.85559	0.1226	10	0.87932	D	0	.	14.768	0.69654	1.0:0.0:0.0:0.0	.	21;21	P01116-2;P01116	.;RASK_HUMAN	R	21	ENSP00000308495:I21R;ENSP00000452512:I21R;ENSP00000256078:I21R;ENSP00000451856:I21R	ENSP00000256078:I21R	I	-	2	0	KRAS	25289524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.247000	0.95444	2.155000	0.67459	0.460000	0.39030	ATA	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.363	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	A	NM_033360		25398257	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	C
LIMK2	3985	genome.wustl.edu	37	22	31664175	31664175	+	Missense_Mutation	SNP	G	G	A	rs138454239		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:31664175G>A	ENST00000331728.4	+	11	1420	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	LIMK2_ENST00000340552.4_Missense_Mutation_p.A415T|LIMK2_ENST00000406516.1_Missense_Mutation_p.A358T|LIMK2_ENST00000444929.2_Missense_Mutation_p.A190T|LIMK2_ENST00000333611.4_Missense_Mutation_p.A415T	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAAAGGAATCGCCTCCGGAAT	0.567																																																	0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	90.0	83.0	85.0		1243,1306,1243	3.8	1.0	22	dbSNP_134	85	1,8599		0,1,4299	no	missense,missense,missense	LIMK2	NM_001031801.1,NM_005569.3,NM_016733.2	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	415/687,436/639,415/618	31664175	1,13005	2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1306G>A	22.37:g.31664175G>A	ENSP00000332687:p.Ala436Thr		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A436T	ENST00000331728.4	37	c.1306	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	.	25.3	4.623426	0.87460	0.0	1.16E-4	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91180	-2.8;-2.56;-2.56;-2.56;-2.8	5.92	3.81	0.43845	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.204155	0.51477	D	0.000088	D	0.94938	0.8363	M	0.84773	2.715	0.48288	D	0.99962	D;D;D;D;B	0.89917	0.999;1.0;0.999;0.991;0.214	P;D;D;D;B	0.80764	0.9;0.994;0.957;0.933;0.04	D	0.94564	0.7765	10	0.87932	D	0	-18.8869	10.838	0.46698	0.068:0.0:0.8018:0.1302	.	468;415;190;436;358	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	T	358;190;436;468;415;415	ENSP00000384602:A358T;ENSP00000409522:A190T;ENSP00000332687:A436T;ENSP00000330470:A415T;ENSP00000339916:A415T	ENSP00000332687:A436T	A	+	1	0	LIMK2	29994175	1.000000	0.71417	0.985000	0.45067	0.704000	0.40688	5.375000	0.66173	0.822000	0.34565	0.655000	0.94253	GCC	LIMK2	-	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		0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	G	NM_016733		31664175	+1	no_errors	ENST00000331728	ensembl	human	known	70_37	missense	SNP	1.000	A
NPIPB4	440345	genome.wustl.edu	37	16	21858734	21858734	+	Splice_Site	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:21858734C>A	ENST00000415645.2	-	2	288	c.249G>T	c.(247-249)tgG>tgT	p.W83C	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Splice_Site_p.W83C			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	83						integral component of membrane (GO:0016021)											GTATACTCACCCAAAGGTAAA	0.338																																																	0																																										SO:0001630	splice_region_variant	728888					16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.249+1G>T	16.37:g.21858734C>A				Missense_Mutation	SNP	pfam_NPIP	p.W83C	ENST00000415645.2	37	c.249		16	.	.	.	.	.	.	.	.	.	.	.	0	-2.816828	0.00072	.	.	ENSG00000185864	ENST00000415645;ENST00000357370;ENST00000341400;ENST00000518761;ENST00000543654	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	0.589	0.589	0.17452	.	.	.	.	.	T	0.16514	0.0397	.	.	.	.	.	.	B;B	0.17268	0.021;0.013	B;B	0.19391	0.021;0.025	T	0.39820	-0.9595	6	0.02654	T	1	.	.	.	.	.	83;83	C9JG80;Q92617	.;NPPL3_HUMAN	C	83;83;83;83;64	ENSP00000404439:W83C;ENSP00000349936:W83C;ENSP00000339196:W83C;ENSP00000429543:W83C;ENSP00000439732:W64C	ENSP00000339196:W83C	W	-	3	0	RP11-645C24.1	21766235	0.005000	0.15991	0.014000	0.15608	0.014000	0.08584	-0.587000	0.05780	-0.340000	0.08388	-1.882000	0.00544	TGG	61E3.4	-	pfam_NPIP		0.338	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	LOC728888	Uniprot_genename	protein_coding		C		Missense_Mutation	21858734	-1	no_errors	ENST00000415645	ensembl	human	known	70_37	missense	SNP	0.018	A
NPIPB6	728741	genome.wustl.edu	37	16	28354457	28354457	+	Missense_Mutation	SNP	G	G	A	rs62031399		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:28354457G>A	ENST00000532254.1	-	7	1434	c.749C>T	c.(748-750)cCc>cTc	p.P250L	NPIPB6_ENST00000533640.1_Missense_Mutation_p.P232L	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	250																	TGTGAGGTAGGGCCAGTAGGG	0.483																																																	0																																										SO:0001583	missense	728741				CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.749C>T	16.37:g.28354457G>A	ENSP00000431871:p.Pro250Leu			Missense_Mutation	SNP	pfam_NPIP	p.P250L	ENST00000532254.1	37	c.749		16	.	.	.	.	.	.	.	.	.	.	-	1.825	-0.471191	0.04445	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.46819	0.86;0.86	0.167	0.167	0.15006	.	.	.	.	.	T	0.32882	0.0844	L	0.31207	0.915	0.80722	P	0.0	B;B	0.22480	0.07;0.039	B;B	0.25140	0.046;0.058	T	0.35425	-0.9789	7	0.48119	T	0.1	.	.	.	.	.	250;232	E9PJ23;E9PS57	.;.	L	232;250	ENSP00000435924:P232L;ENSP00000431871:P250L	ENSP00000431871:P250L	P	-	2	0	RP11-57A19.3	28261958	0.002000	0.14202	0.042000	0.18584	0.043000	0.13939	-0.117000	0.10708	0.276000	0.22118	0.281000	0.19383	CCC	A-575C2.4	-	pfam_NPIP		0.483	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	LOC728741	Uniprot_genename	protein_coding	OTTHUMT00000389133.1	G	XM_001717652		28354457	-1	no_errors	ENST00000532254	ensembl	human	novel	70_37	missense	SNP	0.047	A
LRP5	4041	genome.wustl.edu	37	11	68207255	68207255	+	Silent	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:68207255C>T	ENST00000294304.7	+	21	4465	c.4359C>T	c.(4357-4359)tgC>tgT	p.C1453C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1453					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCGCATGCGGAAAGTCCA	0.672																																																	0													20.0	20.0	20.0					11																	68207255		2200	4293	6493	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4359C>T	11.37:g.68207255C>T			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C1453	ENST00000294304.7	37	c.4359	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.672	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68207255	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	silent	SNP	0.121	T
LRRC9	341883	genome.wustl.edu	37	14	60411327	60411327	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr14:60411327A>G	ENST00000445360.1	+	8	951	c.747A>G	c.(745-747)atA>atG	p.I249M	LRRC9_ENST00000454474.2_3'UTR			Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	249																	TGAAAAAAATAATGTATTATA	0.269																																																	0																																										SO:0001583	missense	341883			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.747A>G	14.37:g.60411327A>G	ENSP00000454748:p.Ile249Met			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I249M	ENST00000445360.1	37	c.747		14																																																																																			LRRC9	-	NULL		0.269	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3	A			60411327	+1	no_errors	ENST00000254271	ensembl	human	known	70_37	missense	SNP	1.000	G
MEFV	4210	genome.wustl.edu	37	16	3297128	3297128	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:3297128C>T	ENST00000219596.1	-	5	1514	c.1475G>A	c.(1474-1476)gGg>gAg	p.G492E	MEFV_ENST00000339854.4_Missense_Mutation_p.G312E|MEFV_ENST00000541159.1_Missense_Mutation_p.G281E|MEFV_ENST00000536379.1_Missense_Mutation_p.G281E	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	492	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTGATCTGCCCAACCATCTG	0.582																																																	0													198.0	173.0	182.0					16																	3297128		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1475G>A	16.37:g.3297128C>T	ENSP00000219596:p.Gly492Glu		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G492E	ENST00000219596.1	37	c.1475	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674236	0.14841	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.61742	0.08;0.51;0.4;0.53	5.29	0.82	0.18793	.	1.148260	0.06368	N	0.713021	T	0.58395	0.2119	L	0.55481	1.735	0.09310	N	1	D	0.60575	0.988	P	0.53313	0.723	T	0.45205	-0.9277	10	0.30854	T	0.27	-3.329	3.1969	0.06636	0.3405:0.3909:0.0:0.2686	.	492	O15553	MEFV_HUMAN	E	492;492;312;281;281;281	ENSP00000219596:G492E;ENSP00000339639:G312E;ENSP00000438711:G281E;ENSP00000445079:G281E	ENSP00000219596:G492E	G	-	2	0	MEFV	3237129	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.198000	0.03035	0.370000	0.24538	0.655000	0.94253	GGG	MEFV	-	NULL		0.582	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	C	NM_000243		3297128	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.000	T
MKL2	57496	genome.wustl.edu	37	16	14341226	14341226	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:14341226G>T	ENST00000341243.5	+	10	2076	c.2076G>T	c.(2074-2076)caG>caT	p.Q692H	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Missense_Mutation_p.Q703H|MKL2_ENST00000574045.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	692	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTTCCCAGGGACAGCCAC	0.572																																																	0													51.0	53.0	52.0					16																	14341226		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2076G>T	16.37:g.14341226G>T	ENSP00000345841:p.Gln692His		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.Q692H	ENST00000341243.5	37	c.2076		16	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124222	0.56613	.	.	ENSG00000186260	ENST00000341243	.	.	.	5.73	2.75	0.32379	.	0.104563	0.64402	D	0.000003	T	0.64627	0.2615	.	.	.	0.40567	D	0.981269	D	0.69078	0.997	P	0.55667	0.781	T	0.63730	-0.6571	7	.	.	.	-9.769	10.1978	0.43065	0.2128:0.0:0.7872:0.0	.	703	B4DGT8	.	H	692	.	.	Q	+	3	2	MKL2	14248727	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.524000	0.53495	0.366000	0.24427	-0.768000	0.03414	CAG	MKL2	-	NULL		0.572	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		G	NM_014048		14341226	+1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	1.000	T
MTMR10	54893	genome.wustl.edu	37	15	31239429	31239429	+	Silent	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr15:31239429G>T	ENST00000435680.1	-	14	1549	c.1452C>A	c.(1450-1452)tcC>tcA	p.S484S	MTMR10_ENST00000314404.8_Silent_p.S236S|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.S402S	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	484	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGTAGGTTTCGGAGAACTCAA	0.478																																																	0													140.0	140.0	140.0					15																	31239429		1897	4140	6037	SO:0001819	synonymous_variant	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1452C>A	15.37:g.31239429G>T			Q6P4Q6	Silent	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.S484	ENST00000435680.1	37	c.1452	CCDS45204.1	15																																																																																			MTMR10	-	NULL		0.478	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	G	NM_017762		31239429	-1	no_errors	ENST00000435680	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100643155	100643155	+	Missense_Mutation	SNP	A	A	T	rs199601905	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:100643155A>T	ENST00000379442.3	+	5	9740	c.9740A>T	c.(9739-9741)aAa>aTa	p.K3247I	MUC12_ENST00000536621.1_Missense_Mutation_p.K3104I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3247	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTGAGTGAGAAATCTACCACC	0.532																																																	0													3.0	4.0	4.0					7																	100643155		642	1461	2103	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.9740A>T	7.37:g.100643155A>T	ENSP00000368755:p.Lys3247Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.K3247I	ENST00000379442.3	37	c.9740		7	.	.	.	.	.	.	.	.	.	.	A	6.096	0.385972	0.11524	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13196	2.61;2.61	0.86	-1.72	0.08107	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.34775	-0.9815	7	0.38643	T	0.18	.	2.3687	0.04325	0.2892:0.3217:0.3891:0.0	.	.	.	.	I	3247;3104	ENSP00000368755:K3247I;ENSP00000441929:K3104I	ENSP00000368755:K3247I	K	+	2	0	MUC12	100429875	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.253000	0.02877	-0.939000	0.03709	0.155000	0.16302	AAA	MUC12	-	NULL		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	A	XM_379904		100643155	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77677374	77677374	+	Intron	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr13:77677374C>A	ENST00000544440.2	-	56	8044				MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000360084.5_Intron|MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000482517.1_Intron					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATGAGAGAGCAGAGGCAGGC	0.443																																																	0																																										SO:0001627	intron_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8027-4226G>T	13.37:g.77677374C>A				RNA	SNP	-	NULL	ENST00000544440.2	37	NULL		13																																																																																			MYCBP2	-	-		0.443	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77677374	-1	no_errors	ENST00000462987	ensembl	human	known	70_37	rna	SNP	1.000	A
NLGN4X	57502	genome.wustl.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602																																																	0													18.0	20.0	20.0					X																	5821413		2199	4292	6491	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1306C>T	X.37:g.5821413G>A	ENSP00000370485:p.Arg436Trp		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R456W	ENST00000381095.3	37	c.1366	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958125	0.18507	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.93	3.05	0.35203	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.35192	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.0511	0.47889	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	NLGN4X	5831413	0.988000	0.35896	0.002000	0.10522	0.003000	0.03518	2.082000	0.41605	0.507000	0.28148	-0.222000	0.12452	CGG	NLGN4X	-	pfam_CarbesteraseB,prints_Neuroligin		0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821413	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	0.278	A
OR13A1	79290	genome.wustl.edu	37	10	45799325	45799325	+	Silent	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:45799325C>A	ENST00000553795.1	-	4	854	c.546G>T	c.(544-546)ctG>ctT	p.L182L	OR13A1_ENST00000536058.1_Silent_p.L182L|OR13A1_ENST00000374401.2_Silent_p.L182L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AATCCAAGCGCAGCATCAGCC	0.587																																																	0													47.0	49.0	49.0					10																	45799325		2203	4296	6499	SO:0001819	synonymous_variant	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.546G>T	10.37:g.45799325C>A			Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L182	ENST00000553795.1	37	c.546	CCDS31188.1	10																																																																																			OR13A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.587	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	C	NM_001004297		45799325	-1	no_errors	ENST00000374401	ensembl	human	known	70_37	silent	SNP	0.000	A
OTUD5	55593	genome.wustl.edu	37	X	48801543	48801543	+	Splice_Site	SNP	T	T	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:48801543T>C	ENST00000156084.4	-	2	656	c.596A>G	c.(595-597)cAg>cGg	p.Q199R	OTUD5_ENST00000376488.3_Splice_Site_p.Q199R|OTUD5_ENST00000428668.2_5'UTR|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Splice_Site_p.Q199R	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	199					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCAATGCTCCTGCTGGAGGGA	0.567																																																	0													60.0	44.0	49.0					X																	48801543		2203	4300	6503	SO:0001630	splice_region_variant	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.595-1A>G	X.37:g.48801543T>C			B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.Q199R	ENST00000156084.4	37	c.596	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614264	0.46631	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;T;D;D	0.84223	-1.81;1.05;-1.82;-1.81	5.87	5.87	0.94306	.	0.071170	0.56097	D	0.000026	T	0.75781	0.3896	L	0.35723	1.085	0.58432	D	0.999998	B;B	0.22346	0.068;0.027	B;B	0.20955	0.018;0.032	T	0.68712	-0.5336	10	0.05436	T	0.98	-2.4172	12.8342	0.57763	0.0:0.0:0.0:1.0	.	199;199	Q96G74;G5E9D7	OTUD5_HUMAN;.	R	199;175;72;199;199	ENSP00000379969:Q199R;ENSP00000390767:Q72R;ENSP00000156084:Q199R;ENSP00000365671:Q199R	ENSP00000156084:Q199R	Q	-	2	0	OTUD5	48686487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.437000	0.73421	2.088000	0.63022	0.486000	0.48141	CAG	OTUD5	-	NULL		0.567	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	T	NM_017602	Missense_Mutation	48801543	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDH15	65217	genome.wustl.edu	37	10	55568613	55568613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:55568613C>A	ENST00000395445.1	-	36	5591	c.5197G>T	c.(5197-5199)Gaa>Taa	p.E1733*	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E667*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.E598*|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E929*|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCACTTTCCACACCTCCT	0.507										HNSCC(58;0.16)																																							0													145.0	117.0	126.0					10																	55568613		1568	3582	5150	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5197G>T	10.37:g.55568613C>A	ENSP00000378832:p.Glu1733*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1733*	ENST00000395445.1	37	c.5197		10	.	.	.	.	.	.	.	.	.	.	C	41	9.019789	0.99038	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.5125	0.84289	0.0:1.0:0.0:0.0	.	.	.	.	X	1733;929;598;667	.	ENSP00000378827:E667X	E	-	1	0	PCDH15	55238619	0.001000	0.12720	0.256000	0.24389	0.884000	0.51177	1.409000	0.34680	2.494000	0.84150	0.563000	0.77884	GAA	PCDH15	-	NULL		0.507	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	C	NM_033056		55568613	-1	no_errors	ENST00000395445	ensembl	human	novel	70_37	nonsense	SNP	0.161	A
PFKFB1	5207	genome.wustl.edu	37	X	54985325	54985325	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:54985325G>A	ENST00000375006.3	-	5	488	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PFKFB1_ENST00000374992.2_Missense_Mutation_p.R118W|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R75W	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	140	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATCAGTGACCGTCGTTCTCTG	0.448																																																	0													256.0	211.0	226.0					X																	54985325		2203	4300	6503	SO:0001583	missense	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.418C>T	X.37:g.54985325G>A	ENSP00000364145:p.Arg140Trp		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R140W	ENST00000375006.3	37	c.418	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099266	0.37048	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T	0.50001	0.76	4.49	3.62	0.41486	6-phosphofructo-2-kinase (1);	0.052309	0.85682	D	0.000000	T	0.76083	0.3938	H	0.99042	4.41	0.26878	N	0.967601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.76602	-0.2899	10	0.02654	T	1	-11.9035	12.6468	0.56740	0.0:0.0:0.8326:0.1674	.	75;118;140	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	W	140;75;118	ENSP00000364131:R118W	ENSP00000364131:R118W	R	-	1	2	PFKFB1	55002050	0.987000	0.35691	0.641000	0.29422	0.312000	0.27988	1.972000	0.40540	0.982000	0.38575	-0.213000	0.12676	CGG	PFKFB1	-	pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin		0.448	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54985325	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	missense	SNP	0.936	A
PIK3CA	5290	genome.wustl.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:178916726G>A	ENST00000263967.3	+	2	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R38H(10)|p.R38L(2)		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)	GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	12	Substitution - Missense(12)	endometrium(7)|large_intestine(3)|lung(2)											76.0	74.0	75.0					3																	178916726		1838	4082	5920	SO:0001583	missense	5290				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.113G>A	3.37:g.178916726G>A	ENSP00000263967:p.Arg38His		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.R38H	ENST00000263967.3	37	c.113	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755529	0.89843	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	9	.	.	.	-9.214	19.2635	0.93977	0.0:0.0:1.0:0.0	.	38	P42336	PK3CA_HUMAN	H	38	ENSP00000263967:R38H;ENSP00000417479:R38H	.	R	+	2	0	PIK3CA	180399420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	CGT	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916726	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51619602	51619602	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:51619602C>T	ENST00000371117.3	-	56	9052	c.8777G>A	c.(8776-8778)cGg>cAg	p.R2926Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2926Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2926					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTTGAGCCGTTCATAGAT	0.468																																																	0													151.0	134.0	140.0					6																	51619602		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8777G>A	6.37:g.51619602C>T	ENSP00000360158:p.Arg2926Gln		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.R2926Q	ENST00000371117.3	37	c.8777	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896109	0.33442	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.03;-2.22	5.49	0.6	0.17524	.	0.386204	0.23440	N	0.048157	T	0.69079	0.3071	L	0.49640	1.575	0.19945	N	0.999941	D;P;D	0.60575	0.988;0.918;0.976	B;B;B	0.42319	0.383;0.362;0.227	T	0.64257	-0.6450	10	0.46703	T	0.11	.	6.6869	0.23150	0.0:0.5337:0.1193:0.3469	.	2926;2926;2926	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	2926	ENSP00000360158:R2926Q;ENSP00000341097:R2926Q	ENSP00000341097:R2926Q	R	-	2	0	PKHD1	51727561	0.000000	0.05858	0.679000	0.29978	0.191000	0.23601	-0.320000	0.08028	0.103000	0.17682	-0.126000	0.14955	CGG	PKHD1	-	NULL		0.468	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51619602	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.402	T
PLD1	5337	genome.wustl.edu	37	3	171427491	171427491	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:171427491A>G	ENST00000351298.4	-	10	1046	c.920T>C	c.(919-921)aTt>aCt	p.I307T	PLD1_ENST00000340989.4_Missense_Mutation_p.I307T|PLD1_ENST00000356327.5_Missense_Mutation_p.I307T|PLD1_ENST00000342215.6_Missense_Mutation_p.I307T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	307	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCATTTTAAAATAAGTGTCCT	0.363																																					NSCLC(149;2174 3517 34058)												0													96.0	96.0	96.0					3																	171427491		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.920T>C	3.37:g.171427491A>G	ENSP00000342793:p.Ile307Thr			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.I307T	ENST00000351298.4	37	c.920	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456736	0.43634	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.59	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.224729	0.46145	D	0.000307	D	0.89054	0.6606	N	0.11818	0.18	0.44395	D	0.997308	B;B	0.23128	0.08;0.009	B;B	0.32090	0.14;0.038	T	0.81726	-0.0801	10	0.10111	T	0.7	-17.9042	11.1701	0.48567	0.8619:0.0:0.0:0.1381	.	330;307	Q59EA4;Q13393	.;PLD1_HUMAN	T	307	ENSP00000348681:I307T;ENSP00000342793:I307T;ENSP00000339936:I307T;ENSP00000340326:I307T	ENSP00000340326:I307T	I	-	2	0	PLD1	172910185	1.000000	0.71417	0.954000	0.39281	0.991000	0.79684	8.547000	0.90665	0.924000	0.37069	0.455000	0.32223	ATT	PLD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk		0.363	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	A	NM_002662		171427491	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	missense	SNP	1.000	G
PLXNB2	23654	genome.wustl.edu	37	22	50719367	50719367	+	Missense_Mutation	SNP	C	C	T	rs375409236		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:50719367C>T	ENST00000449103.1	-	24	3939	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.V1267M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1267					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTCGTGCACGTCGTTGGTC	0.647																																																	0								C	MET/VAL	0,4334		0,0,2167	75.0	88.0	84.0		3799	4.4	1.0	22		84	1,8501		0,1,4250	no	missense	PLXNB2	NM_012401.3	21	0,1,6417	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	1267/1839	50719367	1,12835	2167	4251	6418	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3799G>A	22.37:g.50719367C>T	ENSP00000409171:p.Val1267Met		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1267M	ENST00000449103.1	37	c.3799	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259267	0.39995	0.0	1.18E-4	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03553	3.89;3.89	4.38	4.38	0.52667	.	0.248545	0.28042	N	0.016840	T	0.03220	0.0094	L	0.44542	1.39	0.42130	D	0.991467	P	0.38992	0.653	B	0.31337	0.128	T	0.49351	-0.8949	10	0.44086	T	0.13	.	6.3988	0.21626	0.0:0.6859:0.1686:0.1455	.	1267	O15031	PLXB2_HUMAN	M	1267	ENSP00000409171:V1267M;ENSP00000352288:V1267M	ENSP00000352288:V1267M	V	-	1	0	PLXNB2	49061494	0.072000	0.21174	0.993000	0.49108	0.626000	0.37791	0.237000	0.17985	2.270000	0.75569	0.561000	0.74099	GTG	PLXNB2	-	NULL		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719367	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.999	T
POLA1	5422	genome.wustl.edu	37	X	24745188	24745188	+	Splice_Site	SNP	C	C	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:24745188C>G	ENST00000379059.3	+	14	1528	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Splice_Site_p.Q511E	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	505				SPQL -> KSTA (in Ref. 1; CAA29920). {ECO:0000305}.	cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AAAAAGTCCACGTAAGGAAAA	0.348																																																	0													68.0	62.0	64.0					X																	24745188		2203	4300	6503	SO:0001630	splice_region_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1513+1C>G	X.37:g.24745188C>G			Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.Q511E	ENST00000379059.3	37	c.1531	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393062	0.42410	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.08984	3.03;3.03	5.25	5.25	0.73442	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.185965	0.49305	D	0.000143	T	0.14743	0.0356	M	0.76328	2.33	0.80722	D	1	B;B	0.15473	0.006;0.013	B;B	0.26770	0.025;0.073	T	0.09930	-1.0652	10	0.15952	T	0.53	-4.4586	17.9998	0.89195	0.0:1.0:0.0:0.0	.	511;505	A6NMQ1;P09884	.;DPOLA_HUMAN	E	511;505	ENSP00000368358:Q511E;ENSP00000368349:Q505E	ENSP00000368349:Q505E	Q	+	1	0	POLA1	24655109	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.258000	0.65479	2.441000	0.82636	0.600000	0.82982	CAG	POLA1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2		0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	C	NM_016937	Missense_Mutation	24745188	+1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	1.000	G
PPFIA3	8541	genome.wustl.edu	37	19	49632647	49632647	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:49632647G>T	ENST00000334186.4	+	5	867	c.518G>T	c.(517-519)cGg>cTg	p.R173L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R173L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	173					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTCCGGGAGCGGCTGCGGATG	0.617																																																	0													8.0	10.0	9.0					19																	49632647		2109	4154	6263	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.518G>T	19.37:g.49632647G>T	ENSP00000335614:p.Arg173Leu		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R173L	ENST00000334186.4	37	c.518	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.780312	0.96929	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.46819	0.86	4.56	4.56	0.56223	.	0.000000	0.45867	D	0.000330	T	0.71074	0.3297	M	0.83603	2.65	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.698;0.999	D;P;D	0.80764	0.994;0.482;0.988	T	0.76512	-0.2932	10	0.87932	D	0	-18.6904	16.6387	0.85066	0.0:0.0:1.0:0.0	.	97;173;173	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	L	173;97	ENSP00000335614:R173L	ENSP00000335614:R173L	R	+	2	0	PPFIA3	54324459	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.191000	0.94940	2.563000	0.86464	0.561000	0.74099	CGG	PPFIA3	-	NULL		0.617	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49632647	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	T
PPIAL4G	644591	genome.wustl.edu	37	1	143767596	143767596	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:143767596C>A	ENST00000419275.1	-	1	285	c.253G>T	c.(253-255)Gat>Tat	p.D85Y		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	85	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						AGGTTCTCATCATCAAATTTC	0.468																																																	0													39.0	38.0	38.0					1																	143767596		1551	3547	5098	SO:0001583	missense	644591				CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.253G>T	1.37:g.143767596C>A	ENSP00000393845:p.Asp85Tyr		A1L431	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D85Y	ENST00000419275.1	37	c.253	CCDS41375.1	1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.884628	0.33255	.	.	ENSG00000236334	ENST00000419275	T	0.54071	0.59	0.523	-0.795	0.10915	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	T	0.69584	0.3127	H	0.98936	4.375	0.27269	N	0.958421	D	0.89917	1.0	D	0.97110	1.0	T	0.60063	-0.7336	10	0.87932	D	0	.	4.7838	0.13215	0.0:0.7163:0.0:0.2837	.	85	A2BFH1	PAL4G_HUMAN	Y	85	ENSP00000393845:D85Y	ENSP00000393845:D85Y	D	-	1	0	PPIAL4G	142559119	0.984000	0.35163	0.084000	0.20598	0.059000	0.15707	2.763000	0.47605	-0.252000	0.09528	0.403000	0.27427	GAT	PPIAL4G	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4G	HGNC	protein_coding	OTTHUMT00000037969.1	C	NM_001123068		143767596	-1	no_errors	ENST00000419275	ensembl	human	known	70_37	missense	SNP	0.997	A
PPIP5K2	23262	genome.wustl.edu	37	5	102490374	102490375	+	Splice_Site	INS	-	-	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:102490374_102490375insT	ENST00000358359.3	+	12	1727_1728	c.1218_1219insT	c.(1219-1221)ttt>Tttt	p.F407fs	PPIP5K2_ENST00000321521.9_Splice_Site_p.F407fs|PPIP5K2_ENST00000414217.1_Splice_Site_p.F407fs|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	407	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTATAAGATTTTTTGATCT	0.267																																																	0																																										SO:0001630	splice_region_variant	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1218-1->T	5.37:g.102490380_102490380dupT			A1NI53|A6NGS8|Q8TB50	Frame_Shift_Ins	INS	pfam_His_Pase_superF_clade-2	p.D408fs	ENST00000358359.3	37	c.1218_1219		5																																																																																			PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.267	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	-	NM_015216	Frame_Shift_Ins	102490375	+1	no_errors	ENST00000358359	ensembl	human	known	70_37	frame_shift_ins	INS	0.992:1.000	T
PRR5L	79899	genome.wustl.edu	37	11	36476882	36476882	+	Intron	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:36476882G>A	ENST00000378867.3	+	9	1067				PRR5L_ENST00000530639.1_Intron|PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CAAAGGACCCGAGGACGGCCT	0.592																																																	0																																										SO:0001627	intron_variant	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.712+3997G>A	11.37:g.36476882G>A			A4QN22|E9PKY1|Q96H46|Q9H7V4	RNA	SNP	-	NULL	ENST00000378867.3	37	NULL	CCDS31463.1	11																																																																																			PRR5L	-	-		0.592	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	G	NM_024841		36476882	+1	no_errors	ENST00000530627	ensembl	human	known	70_37	rna	SNP	0.000	A
PTEN	5728	genome.wustl.edu	37	10	89690847	89690847	+	Splice_Site	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:89690847G>T	ENST00000371953.3	+	4	1610		c.e4+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(15)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATTGCAGAGGTAGGTATGAA	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	63	Whole gene deletion(37)|Unknown(15)|Deletion - Frameshift(10)|Deletion - In frame(1)	prostate(17)|central_nervous_system(15)|lung(6)|breast(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CS971885	PTEN	S							83.0	76.0	78.0					10																	89690847		2202	4295	6497	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.253+1G>T	10.37:g.89690847G>T			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e4+1	ENST00000371953.3	37	c.253+1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512472	0.85389	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89680827	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	.	PTEN	-	-		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89690847	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PTPN4	5775	genome.wustl.edu	37	2	120725438	120725438	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:120725438C>A	ENST00000263708.2	+	26	3355	c.2584C>A	c.(2584-2586)Ctt>Att	p.L862I	PTPN4_ENST00000544261.1_Missense_Mutation_p.L495I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	862	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)	AACTGGGGTTCTTATTACTAT	0.378																																																	0													159.0	159.0	159.0					2																	120725438		2203	4300	6503	SO:0001583	missense	5775				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.2584C>A	2.37:g.120725438C>A	ENSP00000263708:p.Leu862Ile		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,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L862I	ENST00000263708.2	37	c.2584	CCDS2129.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.245262|4.245262	0.80024|0.80024	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15487|.	2.42;2.42|.	5.2|5.2	4.32|4.32	0.51571|0.51571	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68109|0.68109	0.2965|0.2965	L|L	0.57130|0.57130	1.785|1.785	0.58432|0.58432	D|D	0.999991|0.999991	B|.	0.11235|.	0.004|.	B|.	0.25506|.	0.061|.	T|T	0.66392|0.66392	-0.5935|-0.5935	10|5	0.59425|.	D|.	0.04|.	.|.	13.7246|13.7246	0.62750|0.62750	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	862|.	P29074|.	PTN4_HUMAN|.	I|Y	862;495|145	ENSP00000263708:L862I;ENSP00000445841:L495I|.	ENSP00000263708:L862I|.	L|S	+|+	1|2	0|0	PTPN4|PTPN4	120441908|120441908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.006000|6.006000	0.70724|0.70724	1.190000|1.190000	0.43042|0.43042	0.585000|0.585000	0.79938|0.79938	CTT|TCT	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.378	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	C			120725438	+1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRC	5788	genome.wustl.edu	37	1	198721850	198721850	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:198721850C>T	ENST00000367376.2	+	31	3623	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	PTPRC_ENST00000348564.6_Missense_Mutation_p.S992F|PTPRC_ENST00000594404.1_Missense_Mutation_p.S990F|PTPRC_ENST00000442510.2_Missense_Mutation_p.S1153F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1103F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1151	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1151F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGAAGAATTCCTCTGAAGGG	0.428																																																	1	Substitution - Missense(1)	skin(1)											73.0	71.0	72.0					1																	198721850		2203	4299	6502	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3452C>T	1.37:g.198721850C>T	ENSP00000356346:p.Ser1151Phe		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1153F	ENST00000367376.2	37	c.3458		1	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200088	0.09652	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02763	4.17	5.78	-1.04	0.10068	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	1.763840	0.02919	N	0.137765	T	0.05364	0.0142	M	0.71206	2.165	0.09310	N	0.999998	B;B;B	0.22851	0.035;0.076;0.016	B;B;B	0.28139	0.037;0.086;0.026	T	0.46498	-0.9187	10	0.87932	D	0	.	2.7368	0.05242	0.0996:0.3271:0.3171:0.2562	.	992;1103;1151	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	1153;1103;1151;990	ENSP00000193532:S1103F	ENSP00000306782:S990F	S	+	2	0	PTPRC	196988473	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.276000	0.08514	0.085000	0.17107	-0.142000	0.14014	TCC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198721850	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	0.000	T
RASGRP2	10235	genome.wustl.edu	37	11	64496388	64496388	+	Missense_Mutation	SNP	C	C	T	rs202192382		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:64496388C>T	ENST00000354024.3	-	15	1970	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	RASGRP2_ENST00000394432.3_Missense_Mutation_p.R573H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R573H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R573H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	573					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAAGGCGCGGTGATGGTG	0.642																																																	0													67.0	56.0	60.0					11																	64496388		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1718G>A	11.37:g.64496388C>T	ENSP00000338864:p.Arg573His		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R573H	ENST00000354024.3	37	c.1718	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014896	0.54468	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.72725	-0.68;-0.65;-0.65;-0.65	4.44	4.44	0.53790	.	0.555105	0.18052	N	0.153243	T	0.57388	0.2050	L	0.29908	0.895	0.80722	D	1	B;B	0.29432	0.244;0.244	B;B	0.18561	0.022;0.022	T	0.59705	-0.7404	10	0.51188	T	0.08	-0.7121	13.2952	0.60292	0.0:1.0:0.0:0.0	.	573;573	Q7LDG7;A6NDC7	GRP2_HUMAN;.	H	573	ENSP00000366714:R573H;ENSP00000377953:R573H;ENSP00000366717:R573H;ENSP00000338864:R573H	ENSP00000338864:R573H	R	-	2	0	RASGRP2	64252964	0.885000	0.30320	0.671000	0.29857	0.931000	0.56810	2.524000	0.45589	2.398000	0.81561	0.650000	0.86243	CGC	RASGRP2	-	NULL		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	C	NM_153819		64496388	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	0.883	T
RERGL	79785	genome.wustl.edu	37	12	18234322	18234322	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr12:18234322G>T	ENST00000229002.2	-	6	627	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.L140M|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	141	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCAGTGCCAGCTTTTGCCCT	0.458																																																	0													107.0	98.0	101.0					12																	18234322		2203	4300	6503	SO:0001583	missense	79785			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.421C>A	12.37:g.18234322G>T	ENSP00000229002:p.Leu141Met			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.L141M	ENST00000229002.2	37	c.421	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518537	0.64634	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79141	-1.24;-1.24	4.74	3.84	0.44239	.	0.000000	0.64402	D	0.000001	D	0.86289	0.5897	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.85906	0.1437	10	0.49607	T	0.09	.	9.3994	0.38424	0.1698:0.0:0.8302:0.0	.	140;141	F5H686;Q9H628	.;RERGL_HUMAN	M	141;140	ENSP00000229002:L141M;ENSP00000437814:L140M	ENSP00000229002:L141M	L	-	1	2	RERGL	18125589	0.952000	0.32445	0.981000	0.43875	0.941000	0.58515	1.267000	0.33050	1.299000	0.44798	0.558000	0.71614	CTG	RERGL	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.458	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1	G	NM_024730		18234322	-1	no_errors	ENST00000229002	ensembl	human	known	70_37	missense	SNP	0.996	T
SCARA5	286133	genome.wustl.edu	37	8	27737165	27737165	+	Silent	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr8:27737165C>T	ENST00000354914.3	-	8	1757	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	SCARA5_ENST00000380385.2_Silent_p.K199K	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	424	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTCCGTCCTTCTTGTCCCAGC	0.642																																																	0													136.0	108.0	117.0					8																	27737165		2203	4300	6503	SO:0001819	synonymous_variant	286133			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1272G>A	8.37:g.27737165C>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.K424	ENST00000354914.3	37	c.1272	CCDS6064.1	8																																																																																			SCARA5	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	C	NM_173833		27737165	-1	no_errors	ENST00000354914	ensembl	human	known	70_37	silent	SNP	1.000	T
SF3B3	23450	genome.wustl.edu	37	16	70597901	70597901	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:70597901A>G	ENST00000302516.5	+	18	2622	c.2411A>G	c.(2410-2412)cAc>cGc	p.H804R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	804					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAAACGGACCACAATGCCTAC	0.448																																																	0													147.0	127.0	134.0					16																	70597901		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2411A>G	16.37:g.70597901A>G	ENSP00000305790:p.His804Arg		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.H804R	ENST00000302516.5	37	c.2411	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801763	0.90538	.	.	ENSG00000189091	ENST00000302516	T	0.15952	2.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.88570	2.965	0.80722	D	1	B	0.24823	0.112	B	0.24701	0.055	T	0.15206	-1.0445	10	0.16896	T	0.51	-0.0127	15.6284	0.76882	1.0:0.0:0.0:0.0	.	804	Q15393	SF3B3_HUMAN	R	804	ENSP00000305790:H804R	ENSP00000305790:H804R	H	+	2	0	SF3B3	69155402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.155000	0.67459	0.533000	0.62120	CAC	SF3B3	-	superfamily_WD40_repeat_dom		0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	A	NM_012426		70597901	+1	no_errors	ENST00000302516	ensembl	human	known	70_37	missense	SNP	1.000	G
SGSM3	27352	genome.wustl.edu	37	22	40800404	40800404	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr22:40800404C>T	ENST00000248929.9	+	5	500	c.311C>T	c.(310-312)tCt>tTt	p.S104F	SGSM3_ENST00000454798.2_Missense_Mutation_p.S37F	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTACCCCGCTCTGAGAAGCTC	0.642																																																	0													56.0	47.0	50.0					22																	40800404		2203	4300	6503	SO:0001583	missense	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.311C>T	22.37:g.40800404C>T	ENSP00000248929:p.Ser104Phe			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.S104F	ENST00000248929.9	37	c.311	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.167601	0.94768	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.04502	3.61;3.61;3.61	5.87	5.87	0.94306	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	M	0.70275	2.135	0.80722	D	1	P;P;D;P;P	0.53885	0.857;0.857;0.963;0.837;0.837	P;P;P;P;P	0.51550	0.59;0.655;0.673;0.655;0.655	T	0.00022	-1.2336	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	41;37;104;104;104	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	F	37;104;47;37	ENSP00000399249:S37F;ENSP00000248929:S104F;ENSP00000390998:S37F	ENSP00000248929:S104F	S	+	2	0	SGSM3	39130350	1.000000	0.71417	0.981000	0.43875	0.979000	0.70002	7.111000	0.77077	2.785000	0.95823	0.655000	0.94253	TCT	SGSM3	-	superfamily_Rab-GTPase-TBC_dom		0.642	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	C	NM_015705		40800404	+1	no_errors	ENST00000248929	ensembl	human	known	70_37	missense	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25446309	25446309	+	RNA	SNP	T	T	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr15:25446309T>C	ENST00000424208.1	+	0	1884				SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAGAATTGTGTTGGGCCCAAT	0.572																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25446309T>C				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.572	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	T			25446309	+1	no_errors	ENST00000424208	ensembl	human	known	70_37	rna	SNP	0.000	C
SPOP	8405	genome.wustl.edu	37	17	47696599	47696599	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr17:47696599T>C	ENST00000393328.2	-	5	714	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393331.3_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	117	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.M117V(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413										Prostate(2;0.17)																																							2	Substitution - Missense(2)	endometrium(2)											148.0	136.0	140.0					17																	47696599		2203	4300	6503	SO:0001583	missense	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.349A>G	17.37:g.47696599T>C	ENSP00000377001:p.Met117Val		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.M117V	ENST00000393328.2	37	c.349	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696398	0.30142	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.54675	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.56	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.036122	0.85682	D	0.000000	T	0.35008	0.0917	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.20075	-1.0286	10	0.07482	T	0.82	.	15.4649	0.75390	0.0:0.0:0.0:1.0	.	117	O43791	SPOP_HUMAN	V	117;117;117;117;1;117;70;117;117;117;117;117	ENSP00000377001:M117V;ENSP00000377004:M117V;ENSP00000240327:M117V;ENSP00000425905:M117V;ENSP00000420908:M117V;ENSP00000426986:M117V;ENSP00000420960:M117V;ENSP00000426262:M117V;ENSP00000424119:M117V;ENSP00000426537:M117V	ENSP00000240327:M117V	M	-	1	0	SPOP	45051598	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.787000	0.85759	2.317000	0.78254	0.460000	0.39030	ATG	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	T	NM_003563		47696599	-1	no_errors	ENST00000347630	ensembl	human	known	70_37	missense	SNP	1.000	C
SVOPL	136306	genome.wustl.edu	37	7	138279227	138279228	+	IGR	INS	-	-	A	rs1439793|rs548460013	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:138279227_138279228insA	ENST00000419765.3	-	0	1523				SVOPL_ENST00000421622.1_3'UTR|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_3'UTR|SVOPL_ENST00000436657.1_3'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TATATGCCTTTAAAAAAAAAAT	0.287																																																	0																																										SO:0001628	intergenic_variant	136306			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870		7.37:g.138279237_138279237dupA				RNA	INS	-	NULL	ENST00000419765.3	37	NULL	CCDS47721.1	7																																																																																			SVOPL	-	-		0.287	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	NM_174959		138279228	-1	no_errors	ENST00000463557	ensembl	human	known	70_37	rna	INS	0.002:0.000	A
SYNE1	23345	genome.wustl.edu	37	6	152738082	152738082	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr6:152738082C>A	ENST00000367255.5	-	41	6091	c.5490G>T	c.(5488-5490)ttG>ttT	p.L1830F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L1867F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1837F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1837F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1830F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1830					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGAACCCAACTTTGCTA	0.562										HNSCC(10;0.0054)																																							0													108.0	109.0	108.0					6																	152738082		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5490G>T	6.37:g.152738082C>A	ENSP00000356224:p.Leu1830Phe		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1830F	ENST00000367255.5	37	c.5490	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721722	0.30503	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.16	1.35	0.21983	.	0.000000	0.48286	D	0.000196	T	0.46151	0.1378	M	0.66939	2.045	0.80722	D	1	D;P;P;B	0.89917	1.0;0.84;0.84;0.147	D;B;B;B	0.85130	0.997;0.405;0.405;0.105	T	0.42430	-0.9452	10	0.30854	T	0.27	.	5.8585	0.18732	0.0:0.4682:0.2324:0.2994	.	1813;1830;1830;1837	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	1830;1837;1830;1837;1867	ENSP00000356224:L1830F;ENSP00000396024:L1837F;ENSP00000265368:L1830F;ENSP00000390975:L1837F;ENSP00000341887:L1867F	ENSP00000265368:L1830F	L	-	3	2	SYNE1	152779775	0.072000	0.21174	0.291000	0.24904	0.341000	0.28922	0.068000	0.14531	0.477000	0.27464	0.650000	0.86243	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152738082	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.827	A
TAB3	257397	genome.wustl.edu	37	X	30870896	30870896	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chrX:30870896G>A	ENST00000378933.1	-	4	1886	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Splice_Site_p.T570M|TAB3_ENST00000378930.3_Splice_Site_p.T570M|TAB3_ENST00000378928.1_Splice_Site_p.T21M|TAB3_ENST00000378932.2_Splice_Site_p.T570M	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	570					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATCACTTACCGTAGGGATCGC	0.468																																					Pancreas(164;1598 1985 29022 43301 49529)												0													141.0	102.0	115.0					X																	30870896		2202	4300	6502	SO:0001630	splice_region_variant	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1710+1C>T	X.37:g.30870896G>A			A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.T570M	ENST00000378933.1	37	c.1709	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690186	0.68271	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.75	5.82	5.82	0.92795	.	0.096276	0.64402	D	0.000002	T	0.81597	0.4856	L	0.40543	1.245	0.47441	D	0.999424	P;D	0.89917	0.645;1.0	B;D	0.64410	0.324;0.925	T	0.83160	-0.0099	10	0.87932	D	0	-2.4628	19.0103	0.92870	0.0:0.0:1.0:0.0	.	570;570	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	M	570;570;570;570;21	ENSP00000368215:T570M;ENSP00000368212:T570M;ENSP00000288422:T570M;ENSP00000368214:T570M	ENSP00000288422:T570M	T	-	2	0	TAB3	30780817	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	5.805000	0.69143	2.438000	0.82558	0.506000	0.49869	ACG	TAB3	-	NULL		0.468	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787	Missense_Mutation	30870896	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	0.997	A
TENM4	26011	genome.wustl.edu	37	11	78601032	78601032	+	Silent	SNP	C	C	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr11:78601032C>T	ENST00000278550.7	-	9	1344	c.882G>A	c.(880-882)ccG>ccA	p.P294P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	294	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGCAGAAGAGCGGGGAGGTGC	0.657																																																	0													114.0	123.0	121.0					11																	78601032		692	1591	2283	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.882G>A	11.37:g.78601032C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P294	ENST00000278550.7	37	c.882	CCDS44688.1	11																																																																																			TENM4	-	pfam_Ten_N		0.657	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78601032	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.004	T
TPSAB1	7177	genome.wustl.edu	37	16	1291685	1291685	+	Missense_Mutation	SNP	G	G	A	rs143210825	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:1291685G>A	ENST00000338844.3	+	4	517	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TPSAB1_ENST00000461509.2_Missense_Mutation_p.D169N	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in dbSNP:rs2234641). {ECO:0000269|PubMed:10898108}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCTGGGGCGATGTGGACAA	0.687													G|||	130	0.0259585	0.0023	0.0303	5008	,	,		17062	0.0		0.0527	False		,,,				2504	0.0542																0								G	ASN/ASP	47,4345		0,47,2149	18.0	16.0	17.0		484	-2.7	0.0	16	dbSNP_134	17	485,8089		0,485,3802	no	missense	TPSAB1	NM_003294.3	23	0,532,5951	AA,AG,GG		5.6566,1.0701,4.103	benign	162/276	1291685	532,12434	2196	4287	6483	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.484G>A	16.37:g.1291685G>A	ENSP00000343577:p.Asp162Asn		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	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.D162N	ENST00000338844.3	37	c.484	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	G	1.910	-0.450958	0.04572	0.010701	0.056566	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.87571	-2.27;-2.27	3.21	-2.67	0.06059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.403267	0.20801	N	0.085431	T	0.20170	0.0485	N	0.13098	0.295	0.09310	N	1	B;B	0.31503	0.326;0.203	B;B	0.24848	0.033;0.056	T	0.51044	-0.8755	10	0.09084	T	0.74	.	8.8642	0.35276	0.7271:0.0:0.2729:0.0	.	153;162	Q15661-2;Q15661	.;TRYB1_HUMAN	N	162;169	ENSP00000343577:D162N;ENSP00000418247:D169N	ENSP00000343577:D162N	D	+	1	0	TPSAB1	1231686	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.998000	0.03701	-0.398000	0.07679	0.479000	0.44913	GAT	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.687	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	G	NM_003294		1291685	+1	no_errors	ENST00000562675	ensembl	human	known	70_37	missense	SNP	0.000	A
TRRAP	8295	genome.wustl.edu	37	7	98581869	98581869	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:98581869G>A	ENST00000359863.4	+	60	9397	c.9188G>A	c.(9187-9189)cGg>cAg	p.R3063Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3034Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3034Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3063	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATATTAAGTCGGATTCATACT	0.463																																																	0													185.0	170.0	175.0					7																	98581869		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9188G>A	7.37:g.98581869G>A	ENSP00000352925:p.Arg3063Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3063Q	ENST00000359863.4	37	c.9188	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.963585|5.963585	0.97151|0.97151	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.68903	.|-0.09;-0.36	5.26|5.26	5.26|5.26	0.73747|0.73747	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81592|0.81592	0.4855|0.4855	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.966;0.967;0.982	D|D	0.83429|0.83429	0.0037|0.0037	5|10	.|0.72032	.|D	.|0.01	.|.	18.8704|18.8704	0.92311|0.92311	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3034;2773;3063	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	R|Q	2774|3063;3034;3033	.|ENSP00000352925:R3063Q;ENSP00000347733:R3034Q	.|ENSP00000347733:R3034Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98419805|98419805	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.996000|0.996000	0.88848|0.88848	9.750000|9.750000	0.98875|0.98875	2.481000|2.481000	0.83766|0.83766	0.655000|0.655000	0.94253|0.94253	GGA|CGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98581869	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215901724	215901724	+	Missense_Mutation	SNP	C	C	T	rs201709470		TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr1:215901724C>T	ENST00000307340.3	-	61	12100	c.11714G>A	c.(11713-11715)cGc>cAc	p.R3905H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3905H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3905	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAGCAGGGCGTCTGAAAGG	0.423										HNSCC(13;0.011)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		19711	0.0		0.0	False		,,,				2504	0.0																0													41.0	40.0	41.0					1																	215901724		2202	4300	6502	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11714G>A	1.37:g.215901724C>T	ENSP00000305941:p.Arg3905His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R3905H	ENST00000307340.3	37	c.11714	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649124	0.87958	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57273	0.41;0.41	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45126	D	0.000398	T	0.75481	0.3855	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78723	-0.2093	10	0.72032	D	0.01	.	19.1396	0.93443	0.0:1.0:0.0:0.0	.	3905	O75445	USH2A_HUMAN	H	3905	ENSP00000305941:R3905H;ENSP00000355910:R3905H	ENSP00000305941:R3905H	R	-	2	0	USH2A	213968347	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.654000	0.61469	2.573000	0.86826	0.585000	0.79938	CGC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215901724	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB47	92999	genome.wustl.edu	37	3	42700448	42700448	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr3:42700448G>A	ENST00000232974.6	+	2	882	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	ZBTB47_ENST00000457842.3_De_novo_Start_OutOfFrame|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	201	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CGAGGAGGCCGGTGGGCCCCC	0.637																																																	0													13.0	17.0	16.0					3																	42700448		691	1590	2281	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.601G>A	3.37:g.42700448G>A	ENSP00000232974:p.Gly201Ser		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G201S	ENST00000232974.6	37	c.601	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435360	0.43224	.	.	ENSG00000114853	ENST00000232974;ENST00000542870	T	0.12147	2.71	3.36	1.54	0.23209	.	0.978397	0.08404	N	0.951019	T	0.08980	0.0222	N	0.22421	0.69	0.19775	N	0.999951	B	0.24483	0.104	B	0.15870	0.014	T	0.35798	-0.9774	10	0.51188	T	0.08	-5.6517	5.2476	0.15506	0.2765:0.0:0.7235:0.0	.	201	F5H6L2	.	S	201	ENSP00000232974:G201S	ENSP00000232974:G201S	G	+	1	0	ZBTB47	42675452	0.645000	0.27286	0.008000	0.14137	0.916000	0.54674	2.052000	0.41316	0.166000	0.19597	0.555000	0.69702	GGT	ZBTB47	-	NULL		0.637	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700448	+1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	0.004	A
ZDHHC11	79844	genome.wustl.edu	37	5	711974	711974	+	Intron	SNP	T	T	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr5:711974T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR|ZDHHC11B_ENST00000508859.2_3'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGCTCCCATTTCCCAGTAC	0.527																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-975A>T	5.37:g.711974T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.527	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		T	NM_024786		711974	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.000	A
ZEB2	9839	genome.wustl.edu	37	2	145157710	145157710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr2:145157710delG	ENST00000558170.2	-	8	2228	c.1044delC	c.(1042-1044)atcfs	p.I348fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.I348fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.I324fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.I348fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	348					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACCCGTCTTGATATTGTTTC	0.398																																					Melanoma(33;1235 1264 5755 16332)												0													62.0	62.0	62.0					2																	145157710		2203	4300	6503	SO:0001589	frameshift_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1044delC	2.37:g.145157710delG	ENSP00000454157:p.Ile348fs		A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.K349fs	ENST00000558170.2	37	c.1044	CCDS2186.1	2																																																																																			ZEB2	-	NULL		0.398	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145157710	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
ZNF518A	9849	genome.wustl.edu	37	10	97918540	97918540	+	RNA	SNP	G	G	A			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr10:97918540G>A	ENST00000534948.1	+	0	3318							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCAAAAACACGAGAGAGAAGG	0.388																																																	0													60.0	59.0	60.0					10																	97918540		1860	4095	5955			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918540G>A			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.388	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		G	NM_014803		97918540	+1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.009	A
ZNF720	124411	genome.wustl.edu	37	16	31766511	31766511	+	Intron	SNP	G	G	T			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr16:31766511G>T	ENST00000316491.9	+	4	560				ZNF720_ENST00000399681.3_Missense_Mutation_p.R300I|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AAACATCAGAGAATTCATACC	0.368																																																	0																																										SO:0001627	intron_variant	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1290G>T	16.37:g.31766511G>T			Q6ZQX1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R300I	ENST00000316491.9	37	c.899	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	g	13.26	2.183114	0.38511	.	.	ENSG00000197302	ENST00000399681	T	0.02446	4.29	0.873	0.873	0.19118	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.36551	D	0.871841	D;P	0.76494	0.999;0.732	D;P	0.71870	0.975;0.66	T	0.22906	-1.0203	8	0.45353	T	0.12	.	7.5805	0.27961	0.0:0.0:1.0:0.0	.	300;300	F5GYB6;B7Z5S2	.;.	I	300	ENSP00000440701:R300I	ENSP00000440701:R300I	R	+	2	0	ZNF720	31674012	0.000000	0.05858	0.096000	0.21009	0.094000	0.18550	-0.042000	0.12063	0.790000	0.33803	0.491000	0.48974	AGA	ZNF720	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	G	NM_001004300		31766511	+1	no_errors	ENST00000399681	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF729	100287226	genome.wustl.edu	37	19	22499442	22499442	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr19:22499442C>G	ENST00000601693.1	+	4	3341	c.3223C>G	c.(3223-3225)Ccc>Gcc	p.P1075A	ZNF729_ENST00000357491.6_Missense_Mutation_p.P1047A			A6NN14	ZN729_HUMAN	zinc finger protein 729	1075					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TGGAGAGAAACCCTGCAAATG	0.378																																																	0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.3223C>G	19.37:g.22499442C>G	ENSP00000469582:p.Pro1075Ala		M0QY45	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.P1075A	ENST00000601693.1	37	c.3223	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	8.301	0.819841	0.16678	.	.	ENSG00000196350	ENST00000357491	T	0.28255	1.62	0.96	-1.92	0.07618	.	.	.	.	.	T	0.09335	0.0230	N	0.01091	-1.02	.	.	.	.	.	.	.	.	.	T	0.24225	-1.0166	6	0.52906	T	0.07	.	6.7049	0.23244	0.2795:0.7205:0.0:0.0	.	.	.	.	A	1047	ENSP00000350085:P1047A	ENSP00000350085:P1047A	P	+	1	0	ZNF729	22291282	0.014000	0.17966	0.005000	0.12908	0.005000	0.04900	1.798000	0.38814	-0.779000	0.04560	-0.817000	0.03123	CCC	ZNF729	-	pfscan_Znf_C2H2		0.378	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	C	XM_496301		22499442	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	missense	SNP	0.994	G
ZNF733P	643955	genome.wustl.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-JW-A5VH-01A-11D-A28B-09	TCGA-JW-A5VH-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0f832ad5-ec72-488b-b55b-1659b733f490	8b53735f-6dfe-4771-82ed-13bd7cae1746	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0																0																																												643955					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC				RNA	INS	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-		0.421	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	-			62752416	-1	no_errors	ENST00000331425	ensembl	human	known	70_37	rna	INS	1.000:1.000	C
