#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
ADAMTS20	80070	genome.wustl.edu	37	12	43944941	43944941	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:43944941G>A	ENST00000389420.3	-	2	223	c.224C>T	c.(223-225)cCg>cTg	p.P75L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P75L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	75					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTTCGGAACGGCATGGGTTC	0.612																																																	0													111.0	105.0	107.0					12																	43944941		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.224C>T	12.37:g.43944941G>A	ENSP00000374071:p.Pro75Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P75L	ENST00000389420.3	37	c.224	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706544	0.48412	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07327	3.2;3.2	3.57	2.68	0.31781	Peptidase M12B, propeptide (1);	0.271751	0.19837	N	0.104944	T	0.07593	0.0191	L	0.38531	1.155	0.24203	N	0.9955	P	0.48998	0.918	B	0.43508	0.422	T	0.23547	-1.0185	10	0.41790	T	0.15	.	7.697	0.28600	0.0931:0.1647:0.7422:0.0	.	75	P59510	ATS20_HUMAN	L	75	ENSP00000374071:P75L;ENSP00000448341:P75L	ENSP00000374068:P75L	P	-	2	0	ADAMTS20	42231208	0.928000	0.31464	0.070000	0.20053	0.957000	0.61999	2.902000	0.48703	1.074000	0.40909	-0.150000	0.13652	CCG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.612	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	G	NM_025003		43944941	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.020	A
ARHGAP35	2909	genome.wustl.edu	37	19	47423967	47423967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:47423967G>T	ENST00000404338.3	+	1	2035	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	679					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGAAAGTATAGAGAAGAGTAG	0.473																																																	0													29.0	30.0	29.0					19																	47423967		1914	4140	6054	SO:0001587	stop_gained	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2035G>T	19.37:g.47423967G>T	ENSP00000385720:p.Glu679*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E679*	ENST00000404338.3	37	c.2035	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.579750	0.98371	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-36.952	18.9999	0.92829	0.0:0.0:1.0:0.0	.	.	.	.	X	679	.	ENSP00000324820:E679X	E	+	1	0	ARHGAP35	52115807	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.829000	0.99411	2.785000	0.95823	0.650000	0.86243	GAG	ARHGAP35	-	NULL		0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47423967	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATP8B1	5205	genome.wustl.edu	37	18	55322503	55322503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr18:55322503G>A	ENST00000283684.4	-	22	2853	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.R952*			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	952			R -> Q (in dbSNP:rs12968116). {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAGAAGTATCGTAGGAACTTG	0.418																																																	0			GRCh37	CM043830	ATP8B1	M							146.0	126.0	133.0					18																	55322503		2203	4300	6503	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2854C>T	18.37:g.55322503G>A	ENSP00000283684:p.Arg952*		Q9BTP8	Nonsense_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.R952*	ENST00000283684.4	37	c.2854	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.126759	0.98667	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.9	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.0165	0.80443	0.0:0.0:0.8242:0.1758	.	.	.	.	X	952	.	ENSP00000283684:R952X	R	-	1	2	ATP8B1	53473501	0.998000	0.40836	0.957000	0.39632	0.979000	0.70002	2.640000	0.46579	2.786000	0.95864	0.561000	0.74099	CGA	ATP8B1	-	tigrfam_ATPase_P-typ_ion-transptr		0.418	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	G	NM_005603		55322503	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	0.974	A
BCL11A	53335	genome.wustl.edu	37	2	60687401	60687404	+	3'UTR	DEL	TGTT	TGTT	-			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:60687401_60687404delTGTT	ENST00000335712.6	-	0	2870_2873				BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGTTACTTCtgtttgtttgtttg	0.387			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										SO:0001624	3_prime_UTR_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*138AACA>-	2.37:g.60687409_60687412delTGTT			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	DEL	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-		0.387	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	TGTT	NM_022893		60687404	-1	no_errors	ENST00000477659	ensembl	human	known	70_37	rna	DEL	0.931:0.749:0.696:0.327	-
BRCC3	79184	genome.wustl.edu	37	X	154319066	154319066	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:154319066G>A	ENST00000369462.1	+	7	525	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	BRCC3_ENST00000369459.2_Missense_Mutation_p.R167Q|BRCC3_ENST00000330045.7_Missense_Mutation_p.R167Q|BRCC3_ENST00000340647.4_Missense_Mutation_p.R168Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.R167Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	167					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGACTGGCCGGGTACTCTAC	0.388																																																	0													84.0	69.0	73.0					X																	154319066		1816	4073	5889	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.500G>A	X.37:g.154319066G>A	ENSP00000358474:p.Arg167Gln		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R167Q	ENST00000369462.1	37	c.500	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572982	0.86542	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.47869	0.87;0.87;0.83;0.83;0.85;0.84	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.45581	1.43	0.80722	D	1	B;D	0.89917	0.414;1.0	B;P	0.60541	0.034;0.876	T	0.60850	-0.7181	10	0.59425	D	0.04	-7.1234	14.6506	0.68794	0.0:0.0:1.0:0.0	.	167;167	P46736-2;P46736	.;BRCC3_HUMAN	Q	168;167;167;167;143;167;167	ENSP00000344103:R168Q;ENSP00000328641:R167Q;ENSP00000358471:R167Q;ENSP00000358474:R167Q;ENSP00000413170:R143Q;ENSP00000381998:R167Q	ENSP00000328641:R167Q	R	+	2	0	BRCC3	153972260	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.988000	0.88194	2.259000	0.74868	0.544000	0.68410	CGG	BRCC3	-	smart_JAB1_Mov34_MPN_PAD1		0.388	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	G	NM_024332		154319066	+1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	1.000	A
CD151	977	genome.wustl.edu	37	11	836354	836354	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:836354T>G	ENST00000397420.3	+	4	437	c.188T>G	c.(187-189)aTc>aGc	p.I63S	CD151_ENST00000528011.1_Missense_Mutation_p.I63S|CD151_ENST00000397421.1_Missense_Mutation_p.I63S|CD151_ENST00000322008.4_Missense_Mutation_p.I63S			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	63					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGCCTACATCCTGGTGGTG	0.652																																					Esophageal Squamous(14;501 559 15826 37823 38305)												0													56.0	44.0	48.0					11																	836354		2202	4299	6501	SO:0001583	missense	977			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.188T>G	11.37:g.836354T>G	ENSP00000380565:p.Ile63Ser		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.I63S	ENST00000397420.3	37	c.188	CCDS7719.1	11	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907418	0.33628	.	.	ENSG00000177697	ENST00000397420;ENST00000525718;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000525333;ENST00000524748;ENST00000527341;ENST00000528867;ENST00000530320;ENST00000526439;ENST00000528011	T;T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;0.85;-1.46	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.85777	2.775	0.80722	D	1	P	0.42871	0.792	P	0.50537	0.643	D	0.89399	0.3694	10	0.87932	D	0	.	14.0845	0.64947	0.0:0.0:0.0:1.0	.	63	P48509	CD151_HUMAN	S	63	ENSP00000380565:I63S;ENSP00000435854:I63S;ENSP00000324101:I63S;ENSP00000380566:I63S;ENSP00000432258:I63S;ENSP00000435054:I63S;ENSP00000431671:I63S;ENSP00000431403:I63S;ENSP00000436591:I63S;ENSP00000433752:I63S;ENSP00000433787:I63S;ENSP00000434663:I63S;ENSP00000432990:I63S	ENSP00000324101:I63S	I	+	2	0	CD151	826354	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.795000	0.62489	1.928000	0.55862	0.379000	0.24179	ATC	CD151	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.652	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD151	HGNC	protein_coding	OTTHUMT00000257108.1	T	NM_004357		836354	+1	no_errors	ENST00000322008	ensembl	human	known	70_37	missense	SNP	1.000	G
COL19A1	1310	genome.wustl.edu	37	6	70854859	70854859	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr6:70854859G>T	ENST00000322773.4	+	25	1832	c.1730G>T	c.(1729-1731)gGt>gTt	p.G577V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G199V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	577	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G577D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTCCAAAAGGTGAGGCTGGT	0.478																																																	1	Substitution - Missense(1)	skin(1)											25.0	27.0	26.0					6																	70854859		2202	4297	6499	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1730G>T	6.37:g.70854859G>T	ENSP00000316030:p.Gly577Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G577V	ENST00000322773.4	37	c.1730	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859708	0.51376	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.99638	0.9867	H	0.97440	4.005	0.80722	D	1	D	0.61080	0.989	D	0.64321	0.924	D	0.97818	1.0255	10	0.62326	D	0.03	.	17.037	0.86479	0.0:0.0:1.0:0.0	.	577	Q14993	COJA1_HUMAN	V	577;199	ENSP00000316030:G577V;ENSP00000377013:G199V	ENSP00000316030:G577V	G	+	2	0	COL19A1	70911580	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.388000	0.79795	2.525000	0.85131	0.585000	0.79938	GGT	COL19A1	-	pfam_Collagen		0.478	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70854859	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3801726	3801726	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:3801726C>T	ENST00000262367.5	-	20	4589		c.e20+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGTACTTACGTCTGGGGCT	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	2	Unknown(2)	urinary_tract(1)|kidney(1)											199.0	144.0	163.0					16																	3801726		2197	4300	6497	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3779+1G>A	16.37:g.3801726C>T			D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	SNP	-	e20+1	ENST00000262367.5	37	c.3779+1	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661446	0.67700	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0728	0.93147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREBBP	3741727	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.481000	0.83766	0.655000	0.94253	.	CREBBP	-	-		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380	Intron	3801726	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CREM	1390	genome.wustl.edu	37	10	35456676	35456677	+	Intron	DEL	TA	TA	-			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr10:35456676_35456677delTA	ENST00000395895.2	+	4	330				CREM_ENST00000479070.1_Intron|CREM_ENST00000395887.3_Frame_Shift_Del_p.L8fs|CREM_ENST00000374721.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000361599.4_Frame_Shift_Del_p.L8fs|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000484283.1_Frame_Shift_Del_p.L8fs			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CAGCATAATCTATGTTTCAGGC	0.381																																																	0																																										SO:0001627	intron_variant	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.169-8104TA>-	10.37:g.35456676_35456677delTA			A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Frame_Shift_Del	DEL	pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.C9fs	ENST00000395895.2	37	c.23_24		10																																																																																			CREM	-	NULL		0.381	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		TA	NM_001881		35456677	+1	no_errors	ENST00000395887	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
CSF2	1437	genome.wustl.edu	37	5	131409528	131409528	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr5:131409528G>A	ENST00000296871.2	+	1	46	c.12G>A	c.(10-12)caG>caA	p.Q4Q		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	4					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGCTGCAGAGCCTGCTGC	0.567																																																	0													29.0	35.0	33.0					5																	131409528		2199	4294	6493	SO:0001819	synonymous_variant	1437			M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.12G>A	5.37:g.131409528G>A			Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	pfam_GM_colony-stim-fac,superfamily_4_helix_cytokine-like_core,smart_GM_colony-stim-fac,prints_GM_colony-stim-fac	p.Q4	ENST00000296871.2	37	c.12	CCDS4150.1	5																																																																																			CSF2	-	NULL		0.567	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2	HGNC	protein_coding	OTTHUMT00000132636.2	G	NM_000758		131409528	+1	no_errors	ENST00000296871	ensembl	human	known	70_37	silent	SNP	0.997	A
DHX57	90957	genome.wustl.edu	37	2	39075446	39075446	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:39075446T>A	ENST00000295373.6	-	10	2255	c.2129A>T	c.(2128-2130)gAc>gTc	p.D710V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	710	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATTAAAATAGTCTGAAAAAAG	0.328																																					Melanoma(191;1090 2095 4375 23729 47341)												0													65.0	71.0	69.0					2																	39075446		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2129A>T	2.37:g.39075446T>A	ENSP00000295373:p.Asp710Val		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D710V	ENST00000295373.6	37	c.2129	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.73|15.73	2.920446|2.920446	0.52653|0.52653	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.26810|.	1.71|.	5.6|5.6	5.6|5.6	0.85130|0.85130	DEAD-like helicase (2);|.	0.380779|.	0.22169|.	N|.	0.063665|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.87827|0.87827	2.91|2.91	0.49213|0.49213	D|D	0.999765|0.999765	B;B;B|.	0.23591|.	0.02;0.088;0.084|.	B;B;B|.	0.22880|.	0.039;0.039;0.042|.	T|T	0.80004|0.80004	-0.1564|-0.1564	10|5	0.49607|.	T|.	0.09|.	.|.	9.9204|9.9204	0.41462|0.41462	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	710;710;102|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	V|S	710|33	ENSP00000295373:D710V|.	ENSP00000295373:D710V|.	D|R	-|-	2|3	0|2	DHX57|DHX57	38928950|38928950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.915000|5.915000	0.69973|0.69973	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	GAC|AGA	DHX57	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	T	NM_145646		39075446	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11701024	11701024	+	Silent	SNP	C	C	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:11701024C>A	ENST00000262442.4	+	43	8402	c.8334C>A	c.(8332-8334)acC>acA	p.T2778T	DNAH9_ENST00000454412.2_Silent_p.T2778T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2778					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTTTGACCCAGACTCTGG	0.498																																																	0													177.0	139.0	152.0					17																	11701024		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8334C>A	17.37:g.11701024C>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2778	ENST00000262442.4	37	c.8334	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11701024	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11786911	11786911	+	Silent	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:11786911C>T	ENST00000262442.4	+	56	10883	c.10815C>T	c.(10813-10815)ctC>ctT	p.L3605L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L3605L|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3605	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCCGATCTCACAAAGCAGC	0.507																																																	0													120.0	105.0	110.0					17																	11786911		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10815C>T	17.37:g.11786911C>T			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3605	ENST00000262442.4	37	c.10815	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11786911	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	T
MT-CO1	4512	genome.wustl.edu	37	M	4366	4366	+	5'Flank	SNP	A	A	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrM:4366A>T	ENST00000361624.2	+	0	0				MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						cctgagaatccaaaattctcc	0.413																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.4366A>T	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			J01415.5	-	-		0.413	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210107	Clone_based_ensembl_gene	protein_coding		A	YP_003024028		4366	-1	no_errors	ENST00000387372	ensembl	human	novel	70_37	rna	SNP	NULL	T
MUC3A	4584	genome.wustl.edu	37	7	100608385	100608386	+	Intron	INS	-	-	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr7:100608385_100608386insA	ENST00000319509.7	+	6	2107				RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGGGTGGGGTAAAGGGCTGAG	0.569																																																	0																																										SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2107+13->A	7.37:g.100608388_100608388dupA			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	INS	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-		0.569	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1	-	XM_001725354		100608386	-1	no_errors	ENST00000420080	ensembl	human	known	70_37	rna	INS	0.004:0.003	A
PDXDC2P	283970	genome.wustl.edu	37	16	70010517	70010519	+	RNA	DEL	TGT	TGT	-	rs372253115		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:70010517_70010519delTGT	ENST00000531894.1	-	0	3864_3866				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.Q253delQ(2)									AGTTATAGAATGTTGTTGAGTTG	0.507																																																	2	Deletion - In frame(2)	breast(2)																																										0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010520_70010522delTGT			A8K9Z5	In_Frame_Del	DEL	pfam_NPIP	p.Q253in_frame_del	ENST00000531894.1	37	c.761_759		16																																																																																			RP11-419C5.2	-	pfam_NPIP		0.507	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	TGT			70010519	-1	no_errors	ENST00000532298	ensembl	human	novel	70_37	in_frame_del	DEL	0.600:0.610:0.620	-
RP11-941H19.3	0	genome.wustl.edu	37	8	81178401	81178401	+	lincRNA	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr8:81178401C>T	ENST00000522044.1	+	0	13																											CTTCGGCAGCCGCCTGGGAAA	0.517																																																	0																																												0																															8.37:g.81178401C>T				RNA	SNP	-	NULL	ENST00000522044.1	37	NULL		8																																																																																			RP11-941H19.3	-	-		0.517	RP11-941H19.3-001	KNOWN	basic	lincRNA	ENSG00000253238	Clone_based_vega_gene	lincRNA	OTTHUMT00000379180.1	C			81178401	+1	no_errors	ENST00000522044	ensembl	human	known	70_37	rna	SNP	0.169	T
MYOCD	93649	genome.wustl.edu	37	17	12663850	12663850	+	Intron	DEL	A	A	-	rs74445886		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:12663850delA	ENST00000343344.4	+	12	2187				MYOCD_ENST00000425538.1_Intron|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ccacaattggaaaaaAAAATA	0.343																																																	0																																										SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2188-117A>-	17.37:g.12663850delA			Q5UBU5|Q8N7Q1	RNA	DEL	-	NULL	ENST00000343344.4	37	NULL	CCDS11163.1	17																																																																																			RP11-1090M7.1	-	-		0.343	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265489	Clone_based_vega_gene	protein_coding	OTTHUMT00000129950.1	A	NM_153604		12663850	-1	no_errors	ENST00000584772	ensembl	human	known	70_37	rna	DEL	0.001	-
AL353763.2	0	genome.wustl.edu	37	9	68997433	68997433	+	RNA	SNP	C	C	T	rs77309871	byFrequency	TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr9:68997433C>T	ENST00000583495.1	-	0	51																											ttccagaatgctgctatgagg	0.478																																																	0																																												0																															9.37:g.68997433C>T				RNA	SNP	-	NULL	ENST00000583495.1	37	NULL		9																																																																																			AL353763.2	-	-		0.478	AL353763.2-201	NOVEL	basic	miRNA	ENSG00000266021	Clone_based_ensembl_gene	miRNA		C			68997433	-1	no_errors	ENST00000583495	ensembl	human	novel	70_37	rna	SNP	0.000	T
ZNF626	199777	genome.wustl.edu	37	19	20844376	20844376	+	5'UTR	DEL	A	A	-			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:20844376delA	ENST00000601440.1	-	0	23				CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_5'UTR	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626						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(1)|endometrium(1)|lung(3)|skin(1)	6						GCAGCGAGAGACAAAGGCCGC	0.562																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.-124T>-	19.37:g.20844376delA			Q8N8T4|Q96QM1	RNA	DEL	-	NULL	ENST00000601440.1	37	NULL	CCDS42535.1	19																																																																																			CTC-513N18.7	-	-		0.562	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269110	Clone_based_vega_gene	protein_coding	OTTHUMT00000447845.2	A	NM_145297		20844376	-1	no_errors	ENST00000595094	ensembl	human	known	70_37	rna	DEL	0.051	-
EXOC6B	23233	genome.wustl.edu	37	2	72786617	72786617	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:72786617G>A	ENST00000272427.6	-	8	1010	c.880C>T	c.(880-882)Cca>Tca	p.P294S	EXOC6B_ENST00000410104.1_Missense_Mutation_p.P294S	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	294					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGATAAACTGGAGAGAAATCC	0.358																																																	0													73.0	68.0	70.0					2																	72786617		1808	4081	5889	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.880C>T	2.37:g.72786617G>A	ENSP00000272427:p.Pro294Ser		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.P294S	ENST00000272427.6	37	c.880	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392761	0.83011	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.33216	1.42;1.42	5.19	5.19	0.71726	.	0.529823	0.20785	N	0.085733	T	0.62551	0.2437	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.954	T	0.68515	-0.5388	10	0.56958	D	0.05	.	14.0889	0.64977	0.0:0.0:1.0:0.0	.	294;294	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	S	294	ENSP00000272427:P294S;ENSP00000386698:P294S	ENSP00000272427:P294S	P	-	1	0	EXOC6B	72640125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.713000	0.74686	2.711000	0.92665	0.655000	0.94253	CCA	EXOC6B	-	pirsf_Sec15		0.358	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	G	XM_039570		72786617	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR179	440435	genome.wustl.edu	37	17	36486721	36486721	+	Missense_Mutation	SNP	C	C	T	rs201772198		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:36486721C>T	ENST00000342292.4	-	11	2751	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	911					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCTGTCCACGCTGCTGCTC	0.652																																																	0								T	MET/VAL	6,4212		0,6,2103	12.0	15.0	14.0		2731	-4.0	0.0	17		14	0,8498		0,0,4249	yes	missense	GPR179	NM_001004334.2	21	0,6,6352	TT,TC,CC		0.0,0.1422,0.0472	benign	911/2368	36486721	6,12710	2109	4249	6358	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2731G>A	17.37:g.36486721C>T	ENSP00000345060:p.Val911Met			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.V911M	ENST00000342292.4	37	c.2731	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.729616	0.00687	0.001422	0.0	ENSG00000188888	ENST00000342292	T	0.54675	0.56	5.04	-4.03	0.04021	.	0.821163	0.10800	N	0.632800	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.21759	-1.0236	10	0.10902	T	0.67	-0.0587	4.41	0.11429	0.0966:0.2855:0.0961:0.5218	.	911	Q6PRD1	GP179_HUMAN	M	911	ENSP00000345060:V911M	ENSP00000345060:V911M	V	-	1	0	GPR179	33740247	0.000000	0.05858	0.004000	0.12327	0.678000	0.39670	-1.942000	0.01541	-1.442000	0.01955	-0.361000	0.07541	GTG	GPR179	-	NULL		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36486721	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.001	T
GSPT1	2935	genome.wustl.edu	37	16	11971344	11971344	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:11971344C>T	ENST00000563468.1	-	10	1134	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	GSPT1_ENST00000564790.1_5'Flank|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.E508K|GSPT1_ENST00000420576.2_Missense_Mutation_p.E370K|GSPT1_ENST00000439887.2_Missense_Mutation_p.E507K			P15170	ERF3A_HUMAN	G1 to S phase transition 1	370					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCCTCTTCTTCAATTCCTTTC	0.388																																																	0													81.0	80.0	80.0					16																	11971344		2090	4248	6338	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1108G>A	16.37:g.11971344C>T	ENSP00000454351:p.Glu370Lys		J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.E508K	ENST00000563468.1	37	c.1522	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.114501	0.94339	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.62941	-0.01;-0.01;-0.01	4.98	4.98	0.66077	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	U	0.000000	T	0.69115	0.3075	L	0.28054	0.825	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.991	D;D;D	0.73708	0.981;0.981;0.958	T	0.73607	-0.3929	10	0.72032	D	0.01	-20.6844	16.8487	0.85988	0.0:1.0:0.0:0.0	.	507;504;370	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	K	508;507;370	ENSP00000398131:E508K;ENSP00000408399:E507K;ENSP00000399539:E370K	ENSP00000399539:E370K	E	-	1	0	GSPT1	11878845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.310000	0.77875	0.585000	0.79938	GAA	GSPT1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.388	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	C	NM_002094		11971344	-1	no_errors	ENST00000434724	ensembl	human	known	70_37	missense	SNP	1.000	T
HEATR6	63897	genome.wustl.edu	37	17	58144895	58144895	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:58144895C>G	ENST00000184956.6	-	8	1154	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	HEATR6_ENST00000585976.1_Missense_Mutation_p.D380H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	380							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GAGACTCCATCTTTTTCTGCA	0.498																																																	0													101.0	87.0	92.0					17																	58144895		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1138G>C	17.37:g.58144895C>G	ENSP00000184956:p.Asp380His		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D380H	ENST00000184956.6	37	c.1138	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393542	0.83011	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.34859	1.34	5.33	4.35	0.52113	Armadillo-type fold (1);	0.617862	0.18135	N	0.150617	T	0.34193	0.0889	L	0.51422	1.61	0.29037	N	0.885305	B;B	0.32693	0.38;0.38	B;B	0.32465	0.146;0.146	T	0.37526	-0.9702	10	0.66056	D	0.02	-0.2561	12.9204	0.58228	0.0:0.9216:0.0:0.0784	.	227;380	E7ESB9;Q6AI08	.;HEAT6_HUMAN	H	380;227	ENSP00000184956:D380H	ENSP00000184956:D380H	D	-	1	0	HEATR6	55499677	0.601000	0.26907	0.562000	0.28370	0.978000	0.69477	1.719000	0.38011	2.674000	0.91012	0.650000	0.86243	GAT	HEATR6	-	superfamily_ARM-type_fold		0.498	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	C	NM_022070		58144895	-1	no_errors	ENST00000184956	ensembl	human	known	70_37	missense	SNP	0.895	G
HECW1	23072	genome.wustl.edu	37	7	43351605	43351605	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr7:43351605G>A	ENST00000395891.2	+	4	876	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	HECW1_ENST00000453890.1_Missense_Mutation_p.G91R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTATTCCATCGGGCACTCTCA	0.582																																																	0													76.0	82.0	80.0					7																	43351605		2112	4235	6347	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.271G>A	7.37:g.43351605G>A	ENSP00000379228:p.Gly91Arg		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G91R	ENST00000395891.2	37	c.271	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	35	5.590149	0.96590	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37752	1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65084	-0.6254	10	0.87932	D	0	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	91;123;91	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	R	91;91;90	ENSP00000379228:G91R;ENSP00000407774:G91R	ENSP00000265522:G90R	G	+	1	0	HECW1	43318130	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.760000	0.98935	2.779000	0.95612	0.655000	0.94253	GGG	HECW1	-	NULL		0.582	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43351605	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	A
HNF4A	3172	genome.wustl.edu	37	20	43042336	43042336	+	Missense_Mutation	SNP	G	G	A	rs377476335		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr20:43042336G>A	ENST00000316099.4	+	4	477	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	HNF4A_ENST00000443598.2_Missense_Mutation_p.V130I|HNF4A_ENST00000609795.1_Missense_Mutation_p.V108I|HNF4A_ENST00000316673.4_Missense_Mutation_p.V108I|HNF4A_ENST00000415691.2_Missense_Mutation_p.V130I|HNF4A_ENST00000457232.1_Missense_Mutation_p.V108I	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	130					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCACAGCCGTCCAGAATGA	0.632																																					Colon(79;2 1269 8820 14841 52347)												0			GRCh37	CM022020	HNF4A	M		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	67.0	53.0	58.0		388,322,322,322,388,388	5.2	0.9	20		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	HNF4A	NM_000457.3,NM_001030003.1,NM_001030004.1,NM_175914.3,NM_178849.1,NM_178850.1	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	130/475,108/443,108/396,108/453,130/465,130/418	43042336	1,13005	2203	4300	6503	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.388G>A	20.37:g.43042336G>A	ENSP00000312987:p.Val130Ile		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.V130I	ENST00000316099.4	37	c.388	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789069	0.90367	0.0	1.16E-4	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.16	5.16	0.70880	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (1);	0.056408	0.64402	N	0.000001	D	0.98346	0.9451	M	0.90309	3.105	0.80722	D	1	D;P;P;D;D;D;P	0.76494	0.998;0.639;0.639;0.999;0.998;0.999;0.942	P;B;B;D;P;D;P	0.64877	0.852;0.134;0.134;0.93;0.852;0.93;0.478	D	0.99482	1.0948	10	0.87932	D	0	.	18.643	0.91401	0.0:0.0:1.0:0.0	.	123;130;130;130;108;108;108	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	I	108;108;130;130;160;130	ENSP00000315180:V108I;ENSP00000396216:V108I;ENSP00000312987:V130I;ENSP00000410911:V130I;ENSP00000412111:V130I	ENSP00000312987:V130I	V	+	1	0	HNF4A	42475750	1.000000	0.71417	0.852000	0.33557	0.771000	0.43674	9.826000	0.99387	2.388000	0.81334	0.557000	0.71058	GTC	HNF4A	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	G			43042336	+1	no_errors	ENST00000316099	ensembl	human	known	70_37	missense	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53564617	53564617	+	Missense_Mutation	SNP	G	G	A	rs121918525		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:53564617G>A	ENST00000342160.3	-	77	12494	c.12037C>T	c.(12037-12039)Cgg>Tgg	p.R4013W	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4013W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4013			R -> W (in MRXS-Turner). {ECO:0000269|PubMed:18252223}.		base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTTCTTTCCGGAGCCCCTCA	0.473																																																	0			GRCh37	CM081659	HUWE1	M	rs121918525						69.0	53.0	58.0					X																	53564617		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12037C>T	X.37:g.53564617G>A	ENSP00000340648:p.Arg4013Trp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4013W	ENST00000342160.3	37	c.12037	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.393378|2.393378	0.42410|0.42410	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.76968	.|-1.06;-1.06	5.78|5.78	5.78|5.78	0.91487|0.91487	.|HECT (1);	.|0.194057	.|0.43260	.|D	.|0.000600	D|D	0.87755|0.87755	0.6257|0.6257	M|M	0.82716|0.82716	2.605|2.605	0.58432|0.58432	A|A	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.77004	.|0.989;0.951;0.978	D|D	0.91178|0.91178	0.4974|0.4974	4|9	.|0.87932	.|D	.|0	.|.	11.5783|11.5783	0.50877|0.50877	0.0:0.0:0.8224:0.1776|0.0:0.0:0.8224:0.1776	.|.	.|835;4013;3997	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	L|W	3046;835|4013	.|ENSP00000340648:R4013W;ENSP00000262854:R4013W	.|ENSP00000262854:R4013W	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53581342|53581342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.405000|3.405000	0.52630|0.52630	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	CCG|CGG	HUWE1	-	superfamily_HECT		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53564617	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	A
IGSF10	285313	genome.wustl.edu	37	3	151166190	151166190	+	Missense_Mutation	SNP	G	G	A	rs372867906		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:151166190G>A	ENST00000282466.3	-	4	1578	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	527	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R527W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTAGGATCCGTCCATCCTCA	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	154.0	154.0	154.0		1579	1.4	0.6	3		154	0,8600		0,0,4300	no	missense	IGSF10	NM_178822.4	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	527/2624	151166190	2,13004	2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1579C>T	3.37:g.151166190G>A	ENSP00000282466:p.Arg527Trp		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R527W	ENST00000282466.3	37	c.1579	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777328	0.49786	4.54E-4	0.0	ENSG00000152580	ENST00000282466	T	0.40756	1.02	4.76	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000689	T	0.70448	0.3225	M	0.94101	3.495	0.43678	D	0.996119	D	0.89917	1.0	D	0.97110	1.0	T	0.77770	-0.2463	10	0.59425	D	0.04	.	13.7934	0.63155	0.0:0.0:0.3846:0.6154	.	527	Q6WRI0	IGS10_HUMAN	W	527	ENSP00000282466:R527W	ENSP00000282466:R527W	R	-	1	2	IGSF10	152648880	0.999000	0.42202	0.557000	0.28306	0.715000	0.41141	3.083000	0.50136	0.379000	0.24794	-0.410000	0.06199	CGG	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	G	NM_178822		151166190	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.985	A
INTS5	80789	genome.wustl.edu	37	11	62416283	62416283	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:62416283C>G	ENST00000330574.2	-	2	1321	c.1269G>C	c.(1267-1269)caG>caC	p.Q423H	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	423					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCCAGGCCCTGGGTGGTAA	0.622																																																	0													51.0	43.0	46.0					11																	62416283		2202	4299	6501	SO:0001583	missense	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1269G>C	11.37:g.62416283C>G	ENSP00000327889:p.Gln423His		Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.Q423H	ENST00000330574.2	37	c.1269	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	C	2.352	-0.348517	0.05208	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.78	1.5	0.22942	.	0.128767	0.51477	D	0.000098	T	0.14787	0.0357	N	0.08118	0	0.25929	N	0.983011	B	0.02656	0.0	B	0.08055	0.003	T	0.09751	-1.0660	9	0.42905	T	0.14	.	3.1469	0.06474	0.2005:0.47:0.0:0.3295	.	423	Q6P9B9	INT5_HUMAN	H	423	.	ENSP00000327889:Q423H	Q	-	3	2	INTS5	62172859	0.943000	0.32029	1.000000	0.80357	0.875000	0.50365	-0.182000	0.09726	0.572000	0.29383	0.650000	0.86243	CAG	INTS5	-	NULL		0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	C	NM_030628		62416283	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	missense	SNP	1.000	G
IQSEC3	440073	genome.wustl.edu	37	12	176519	176519	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:176519G>A	ENST00000538872.1	+	1	589	c.471G>A	c.(469-471)ccG>ccA	p.P157P	IQSEC3_ENST00000326261.4_Silent_p.P157P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	157					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCGTCCCCCGAGTTGCTGCG	0.682																																																	0													13.0	18.0	17.0					12																	176519		1547	3557	5104	SO:0001819	synonymous_variant	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.471G>A	12.37:g.176519G>A			A6NIF2|A6NKV9|Q8TB43	Silent	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.P157	ENST00000538872.1	37	c.471	CCDS53728.1	12																																																																																			IQSEC3	-	NULL		0.682	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		176519	+1	no_errors	ENST00000326261	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNH4	23415	genome.wustl.edu	37	17	40316184	40316184	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:40316184G>A	ENST00000264661.3	-	12	2420	c.2088C>T	c.(2086-2088)ggC>ggT	p.G696G	KCNH4_ENST00000607371.1_Silent_p.G696G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	696					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGGCTGAGGCCCTGTGGGG	0.597																																					NSCLC(117;707 1703 2300 21308 31858)												0													51.0	33.0	39.0					17																	40316184		2183	4257	6440	SO:0001819	synonymous_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2088C>T	17.37:g.40316184G>A				Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G696	ENST00000264661.3	37	c.2088	CCDS11420.1	17																																																																																			KCNH4	-	NULL		0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40316184	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	silent	SNP	0.998	A
ITGA3	3675	genome.wustl.edu	37	17	48145499	48145499	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:48145499G>A	ENST00000320031.8	+	4	824	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.R165Q	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	165					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGCTACGTGCGAGGCAATGAC	0.597																																																	0													142.0	125.0	131.0					17																	48145499		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.494G>A	17.37:g.48145499G>A	ENSP00000315190:p.Arg165Gln		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R165Q	ENST00000320031.8	37	c.494	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003404	0.93287	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.71579	-0.58;-0.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.75961	-0.3133	10	0.24483	T	0.36	.	17.3847	0.87413	0.0:0.0:1.0:0.0	.	165;165	P26006-1;P26006	.;ITA3_HUMAN	Q	165;151;165	ENSP00000007722:R165Q;ENSP00000315190:R165Q	ENSP00000007722:R165Q	R	+	2	0	ITGA3	45500498	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.317000	0.65822	2.376000	0.81061	0.650000	0.86243	CGA	ITGA3	-	NULL		0.597	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	G	NM_005501		48145499	+1	no_errors	ENST00000320031	ensembl	human	known	70_37	missense	SNP	1.000	A
KCTD14	65987	genome.wustl.edu	37	11	77728119	77728119	+	Silent	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:77728119C>T	ENST00000353172.5	-	2	332	c.288G>A	c.(286-288)ggG>ggA	p.G96G	KCTD14_ENST00000533144.1_Silent_p.G66G|NDUFC2-KCTD14_ENST00000530054.1_3'UTR|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	96	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGCACTTGCCCAGTGCGCA	0.572																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												0													79.0	69.0	72.0					11																	77728119		2200	4292	6492	SO:0001819	synonymous_variant	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.288G>A	11.37:g.77728119C>T			B2R9R8	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G96	ENST00000353172.5	37	c.288	CCDS8255.2	11																																																																																			KCTD14	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.572	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	C	NM_023930		77728119	-1	no_errors	ENST00000353172	ensembl	human	known	70_37	silent	SNP	0.968	T
KDM6B	23135	genome.wustl.edu	37	17	7756374	7756374	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:7756374G>T	ENST00000448097.2	+	21	4998	c.4667G>T	c.(4666-4668)cGg>cTg	p.R1556L	TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Missense_Mutation_p.R1556L|TMEM88_ENST00000574668.1_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1556					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R1556Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGCCTGGTGCGGGCAGGGAAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											119.0	101.0	107.0					17																	7756374		2203	4300	6503	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4667G>T	17.37:g.7756374G>T	ENSP00000412513:p.Arg1556Leu		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1556L	ENST00000448097.2	37	c.4667		17	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257850	0.59321	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32515	1.45;1.45	5.28	4.29	0.51040	.	0.144589	0.45361	D	0.000374	T	0.31420	0.0796	N	0.19112	0.55	0.46241	D	0.998945	P;B	0.35077	0.483;0.059	P;B	0.46237	0.508;0.061	T	0.27331	-1.0077	10	0.66056	D	0.02	-15.7881	14.3353	0.66584	0.0:0.0:0.8502:0.1498	.	1556;1556	O15054;O15054-1	KDM6B_HUMAN;.	L	1556	ENSP00000254846:R1556L;ENSP00000412513:R1556L	ENSP00000254846:R1556L	R	+	2	0	KDM6B	7697099	0.010000	0.17322	1.000000	0.80357	0.916000	0.54674	1.719000	0.38011	1.320000	0.45209	0.462000	0.41574	CGG	KDM6B	-	NULL		0.622	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	G	XM_043272		7756374	+1	no_errors	ENST00000254846	ensembl	human	known	70_37	missense	SNP	1.000	T
LIG4	3981	genome.wustl.edu	37	13	108861015	108861015	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr13:108861015C>T	ENST00000356922.4	-	2	2874	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	LIG4_ENST00000405925.1_Missense_Mutation_p.D868N|LIG4_ENST00000442234.1_Missense_Mutation_p.D868N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	868	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D868Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CGACTATGATCTTCCCCAATT	0.368								Non-homologous end-joining																																									1	Substitution - Missense(1)	lung(1)											99.0	97.0	98.0					13																	108861015		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2602G>A	13.37:g.108861015C>T	ENSP00000349393:p.Asp868Asn		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.D868N	ENST00000356922.4	37	c.2602	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470660	0.63625	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.46451	0.87;0.87;0.87	5.75	5.75	0.90469	BRCT (4);	0.159635	0.56097	D	0.000035	T	0.47637	0.1456	M	0.74258	2.255	0.49915	D	0.999835	B	0.13145	0.007	B	0.11329	0.006	T	0.37314	-0.9711	10	0.30078	T	0.28	.	18.9991	0.92826	0.0:1.0:0.0:0.0	.	868	P49917	DNLI4_HUMAN	N	868	ENSP00000385955:D868N;ENSP00000402030:D868N;ENSP00000349393:D868N	ENSP00000349393:D868N	D	-	1	0	LIG4	107659016	0.997000	0.39634	0.894000	0.35097	0.983000	0.72400	3.459000	0.53021	2.737000	0.93849	0.567000	0.79289	GAT	LIG4	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.368	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	C	NM_002312		108861015	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.993	T
LOC100287934	100287934	genome.wustl.edu	37	1	721507	721507	+	lincRNA	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:721507G>A	ENST00000591702.1	+	0	328																											CATCACAGATGATTTTTTCTA	0.428																																																	0																																												100287934																															1.37:g.721507G>A				RNA	SNP	-	NULL	ENST00000591702.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	.	0.857	-0.736615	0.03111	.	.	ENSG00000197049	ENST00000358533	.	.	.	.	.	.	.	.	.	.	.	T	0.55097	0.1899	.	.	.	0.22317	N	0.999204	.	.	.	.	.	.	T	0.64782	-0.6326	2	0.87932	D	0	.	.	.	.	.	.	.	.	I	34	.	ENSP00000351335:M34I	M	+	3	0	AL669831.1	711370	0.001000	0.12720	0.046000	0.18839	0.042000	0.13812	-0.753000	0.04792	0.377000	0.24735	0.382000	0.24955	ATG	RP11-206L10.9	-	-		0.428	RP11-206L10.9-020	KNOWN	basic	lincRNA	LOC100287934	Clone_based_vega_gene	lincRNA	OTTHUMT00000459872.1	G			721507	+1	no_errors	ENST00000358533	ensembl	human	known	70_37	rna	SNP	0.066	A
AL589743.1	0	genome.wustl.edu	37	14	19686356	19686356	+	lincRNA	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr14:19686356C>T	ENST00000418499.3	+	0	3467																											GTCACCCCAACCCTGTTTCCT	0.687																																																	0																																												100506303																															14.37:g.19686356C>T				RNA	SNP	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			AL589743.1	-	-		0.687	AL589743.1-003	KNOWN	basic	lincRNA	LOC100506303	Clone_based_vega_gene	lincRNA	OTTHUMT00000317887.3	C			19686356	+1	no_errors	ENST00000418499	ensembl	human	known	70_37	rna	SNP	0.034	T
LRP1	4035	genome.wustl.edu	37	12	57556149	57556149	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:57556149A>G	ENST00000243077.3	+	14	2718	c.2252A>G	c.(2251-2253)cAt>cGt	p.H751R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	751					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGTCACCATGGCAACTAC	0.547																																																	0													232.0	187.0	202.0					12																	57556149		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2252A>G	12.37:g.57556149A>G	ENSP00000243077:p.His751Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H751R	ENST00000243077.3	37	c.2252	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360022	0.61403	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.084720	0.47455	D	0.000230	D	0.85999	0.5828	L	0.49126	1.545	0.80722	D	1	B	0.34214	0.442	B	0.24155	0.051	D	0.85522	0.1204	10	0.41790	T	0.15	.	13.8986	0.63787	1.0:0.0:0.0:0.0	.	751	Q07954	LRP1_HUMAN	R	751	ENSP00000243077:H751R	ENSP00000243077:H751R	H	+	2	0	LRP1	55842416	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.901000	0.92560	2.187000	0.69744	0.460000	0.39030	CAT	LRP1	-	pfscan_LDLR_classB_rpt		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	A	NM_002332		57556149	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC10	376132	genome.wustl.edu	37	12	70003979	70003979	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr12:70003979G>C	ENST00000361484.3	-	1	963	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	214					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACCAGCTTCAGACTTGACAGG	0.577																																																	0													89.0	79.0	82.0					12																	70003979		2203	4300	6503	SO:0001583	missense	376132			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.640C>G	12.37:g.70003979G>C	ENSP00000355166:p.Leu214Val		Q6ZVY4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L214V	ENST00000361484.3	37	c.640	CCDS31856.1	12	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277922	0.59758	.	.	ENSG00000198812	ENST00000361484	T	0.57907	0.37	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.77103	2.36	0.46356	D	0.999005	D	0.76494	0.999	D	0.80764	0.994	T	0.68477	-0.5398	10	0.46703	T	0.11	.	8.8919	0.35439	0.2089:0.0:0.7911:0.0	.	214	Q5BKY1	LRC10_HUMAN	V	214	ENSP00000355166:L214V	ENSP00000355166:L214V	L	-	1	2	LRRC10	68290246	0.771000	0.28555	0.993000	0.49108	0.910000	0.53928	1.255000	0.32909	2.815000	0.96918	0.561000	0.74099	CTG	LRRC10	-	NULL		0.577	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	G	NM_201550		70003979	-1	no_errors	ENST00000361484	ensembl	human	known	70_37	missense	SNP	0.987	C
MAGEC1	9947	genome.wustl.edu	37	X	140996029	140996029	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chrX:140996029C>G	ENST00000285879.4	+	4	3125	c.2839C>G	c.(2839-2841)Cct>Gct	p.P947A	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P14A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	947	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTACTTTCCTGTGATCTT	0.463										HNSCC(15;0.026)																																							0													144.0	134.0	137.0					X																	140996029		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2839C>G	X.37:g.140996029C>G	ENSP00000285879:p.Pro947Ala		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P947A	ENST00000285879.4	37	c.2839	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	8.173	0.792218	0.16258	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05139	3.49;3.49	0.837	0.837	0.18896	.	.	.	.	.	T	0.18676	0.0448	M	0.72576	2.205	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.04115	-1.0976	8	0.66056	D	0.02	.	.	.	.	.	947	O60732	MAGC1_HUMAN	A	947;14	ENSP00000285879:P947A;ENSP00000385500:P14A	ENSP00000285879:P947A	P	+	1	0	MAGEC1	140823695	0.000000	0.05858	0.003000	0.11579	0.302000	0.27658	-0.044000	0.12023	0.696000	0.31696	0.279000	0.19357	CCT	MAGEC1	-	pfam_MAGE,pfscan_MAGE		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140996029	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.003	G
MALAT1	378938	genome.wustl.edu	37	11	65271780	65271780	+	lincRNA	DEL	T	T	-	rs36002528		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:65271780delT	ENST00000534336.1	+	0	6548					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTGTTGTAGCTTTTTTTTTTT	0.433																																																	0													25.0	28.0	27.0					11																	65271780		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271780delT				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.433	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	T	NR_002819		65271780	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	DEL	0.994	-
MST1R	4486	genome.wustl.edu	37	3	49928930	49928930	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:49928930G>C	ENST00000296474.3	-	16	3463	c.3436C>G	c.(3436-3438)Ctc>Gtc	p.L1146V	MST1R_ENST00000344206.4_Missense_Mutation_p.L1097V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATACCAATGAGAGCCAGCACA	0.612																																																	0													106.0	97.0	100.0					3																	49928930		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3436C>G	3.37:g.49928930G>C	ENSP00000296474:p.Leu1146Val		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1146V	ENST00000296474.3	37	c.3436	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	.	20.4	3.977192	0.74360	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.42900	0.96;0.96	5.08	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.173382	0.51477	D	0.000090	T	0.62502	0.2433	M	0.81341	2.54	0.58432	D	0.999993	P	0.44877	0.845	P	0.53185	0.72	T	0.67542	-0.5644	10	0.87932	D	0	-22.2205	18.8476	0.92213	0.0:0.0:1.0:0.0	.	1146	Q04912	RON_HUMAN	V	1146;1097	ENSP00000296474:L1146V;ENSP00000341325:L1097V	ENSP00000296474:L1146V	L	-	1	0	MST1R	49903934	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	4.254000	0.58798	2.693000	0.91896	0.632000	0.83419	CTC	MST1R	-	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,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	G			49928930	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	1.000	C
MUC20P1	651714	genome.wustl.edu	37	3	195346456	195346456	+	IGR	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:195346456C>T								APOD (35380 upstream) : RP11-141C7.4 (20404 downstream)																							CCTGGGGCCTCAGACACAGAT	0.527																																																	0																																										SO:0001628	intergenic_variant	200958																															3.37:g.195346456C>T				Missense_Mutation	SNP	NULL	p.S253L		37	c.758		3	.	.	.	.	.	.	.	.	.	.	.	5.539	0.284413	0.10513	.	.	ENSG00000176945	ENST00000381954	.	.	.	0.705	-0.339	0.12647	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28618	-1.0038	5	0.48119	T	0.1	.	3.0921	0.06297	0.0:0.6454:0.0:0.3546	.	.	.	.	L	253	.	ENSP00000371380:S253L	S	+	2	0	MUC20	196827745	0.010000	0.17322	0.008000	0.14137	0.306000	0.27790	0.313000	0.19415	-0.127000	0.11661	0.152000	0.16155	TCA	MUC20	-	NULL	0	0.527					MUC20	HGNC			C			195346456	+1	no_errors	ENST00000381954	ensembl	human	known	70_37	missense	SNP	0.010	T
NAA11	84779	genome.wustl.edu	37	4	80247017	80247017	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:80247017G>A	ENST00000286794.4	-	1	187	c.15C>T	c.(13-15)aaC>aaT	p.N5N	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	5	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTGGCTGAGCGTTGCGGATGT	0.512																																																	0													67.0	64.0	65.0					4																	80247017		2193	4299	6492	SO:0001819	synonymous_variant	84779				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.15C>T	4.37:g.80247017G>A			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.N5	ENST00000286794.4	37	c.15	CCDS47084.1	4																																																																																			NAA11	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.512	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	G			80247017	-1	no_errors	ENST00000286794	ensembl	human	known	70_37	silent	SNP	0.917	A
NR3C2	4306	genome.wustl.edu	37	4	149035255	149035255	+	Splice_Site	SNP	G	G	A	rs371422334		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:149035255G>A	ENST00000358102.3	-	8	3161	c.2799C>T	c.(2797-2799)gaC>gaT	p.D933D	NR3C2_ENST00000512865.1_Splice_Site_p.D816D|NR3C2_ENST00000344721.4_Splice_Site_p.D933D|NR3C2_ENST00000511528.1_Splice_Site_p.D937D|NR3C2_ENST00000355292.3_Splice_Site_p.D937D	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	933	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCTACTCACGTCATGCATGG	0.493																																					Melanoma(27;428 957 40335 51025 51111)												0								G	,	0,4406		0,0,2203	123.0	104.0	110.0		2799,2448	-6.3	0.8	4		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	NR3C2	NM_000901.4,NM_001166104.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	933/985,816/868	149035255	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2799+1C>T	4.37:g.149035255G>A			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D937	ENST00000358102.3	37	c.2811	CCDS3772.1	4																																																																																			NR3C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	G		Silent	149035255	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	silent	SNP	0.965	A
NR3C2	4306	genome.wustl.edu	37	4	149357186	149357186	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr4:149357186G>A	ENST00000358102.3	-	2	1189	c.827C>T	c.(826-828)cCa>cTa	p.P276L	NR3C2_ENST00000512865.1_Missense_Mutation_p.P276L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P276L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P276L|NR3C2_ENST00000355292.3_Missense_Mutation_p.P276L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	276	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCAGTGACTTGGAGGGCTGGA	0.488																																					Melanoma(27;428 957 40335 51025 51111)												0													69.0	69.0	69.0					4																	149357186		2203	4300	6503	SO:0001583	missense	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.827C>T	4.37:g.149357186G>A	ENSP00000350815:p.Pro276Leu		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P276L	ENST00000358102.3	37	c.827	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625976	0.28889	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.2;-2.2;-2.61	4.86	4.86	0.63082	.	0.220122	0.45126	D	0.000381	D	0.86598	0.5971	L	0.27053	0.805	0.58432	D	0.999995	P;P	0.50943	0.895;0.94	B;P	0.49140	0.281;0.601	D	0.85703	0.1314	9	.	.	.	.	18.3401	0.90302	0.0:0.0:1.0:0.0	.	276;276	B0ZBF5;B0ZBF6	.;.	L	276	ENSP00000341390:P276L;ENSP00000347441:P276L;ENSP00000350815:P276L;ENSP00000423510:P276L;ENSP00000343907:P276L;ENSP00000421481:P276L	.	P	-	2	0	NR3C2	149576636	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	5.770000	0.68873	2.392000	0.81423	0.591000	0.81541	CCA	NR3C2	-	NULL		0.488	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	G			149357186	-1	no_errors	ENST00000355292	ensembl	human	known	70_37	missense	SNP	0.984	A
NXPE3	91775	genome.wustl.edu	37	3	101525937	101525937	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:101525937G>C	ENST00000491511.2	+	6	1845	c.889G>C	c.(889-891)Gat>Cat	p.D297H	NXPE3_ENST00000273347.5_Missense_Mutation_p.D297H|NXPE3_ENST00000422132.1_Missense_Mutation_p.D297H|NXPE3_ENST00000477909.1_Missense_Mutation_p.D297H	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	297						extracellular region (GO:0005576)											CAGTGGACCTGATTGGGTAAC	0.363																																																	0													127.0	134.0	132.0					3																	101525937		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.889G>C	3.37:g.101525937G>C	ENSP00000417485:p.Asp297His		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.D297H	ENST00000491511.2	37	c.889	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225231	0.79576	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.58	5.58	0.84498	.	0.338611	0.35320	N	0.003287	T	0.25306	0.0615	L	0.48642	1.525	0.58432	D	0.999997	D	0.63880	0.993	P	0.52856	0.711	T	0.00146	-1.1992	10	0.44086	T	0.13	-9.968	19.5923	0.95520	0.0:0.0:1.0:0.0	.	297	Q969Y0	FA55C_HUMAN	H	297	ENSP00000273347:D297H;ENSP00000417485:D297H;ENSP00000418369:D297H;ENSP00000396421:D297H	ENSP00000273347:D297H	D	+	1	0	FAM55C	103008627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.931000	0.70113	2.644000	0.89710	0.557000	0.71058	GAT	NXPE3	-	NULL		0.363	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	G	NM_145037		101525937	+1	no_errors	ENST00000273347	ensembl	human	known	70_37	missense	SNP	1.000	C
ODF1	4956	genome.wustl.edu	37	8	103572954	103572954	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr8:103572954G>A	ENST00000285402.3	+	2	751	c.595G>A	c.(595-597)Gag>Aag	p.E199K	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCAAGATCGAGTCTCCTTG	0.572																																																	0													109.0	79.0	89.0					8																	103572954		2203	4300	6503	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.595G>A	8.37:g.103572954G>A	ENSP00000285402:p.Glu199Lys		Q3SX72	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.E199K	ENST00000285402.3	37	c.595	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369481	0.82463	.	.	ENSG00000155087	ENST00000285402	D	0.85484	-1.99	5.06	5.06	0.68205	Heat shock protein Hsp20 (1);	0.000000	0.56097	D	0.000034	D	0.88097	0.6345	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.89225	0.3573	10	0.87932	D	0	-28.5667	13.9183	0.63914	0.0:0.0:1.0:0.0	.	199	Q14990	ODFP1_HUMAN	K	199	ENSP00000285402:E199K	ENSP00000285402:E199K	E	+	1	0	ODF1	103642130	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.746000	0.62133	2.367000	0.80283	0.555000	0.69702	GAG	ODF1	-	pfscan_a-crystallin/Hsp20_dom		0.572	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	G			103572954	+1	no_errors	ENST00000285402	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHA6	56142	genome.wustl.edu	37	5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672																																																	0													53.0	61.0	58.0					5																	140209601		2203	4299	6502	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1925C>G	5.37:g.140209601C>G	ENSP00000433378:p.Ser642Cys		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S642C	ENST00000529310.1	37	c.1925	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	2.418	-0.333680	0.05278	.	.	ENSG00000081842	ENST00000529310	T	0.53206	0.63	3.98	0.94	0.19513	Cadherin (4);Cadherin-like (1);	0.496290	0.14270	U	0.330185	T	0.36276	0.0961	L	0.43598	1.365	0.09310	N	0.999999	B;B	0.23650	0.02;0.089	B;B	0.24974	0.012;0.057	T	0.35968	-0.9767	10	0.87932	D	0	.	5.6528	0.17627	0.0:0.4239:0.3581:0.218	.	642;642	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	C	642	ENSP00000433378:S642C	ENSP00000433378:S642C	S	+	2	0	PCDHA6	140189785	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-1.722000	0.01868	0.459000	0.27016	0.306000	0.20318	TCT	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209601	+1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.043	G
PCSK7	9159	genome.wustl.edu	37	11	117094021	117094021	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:117094021G>A	ENST00000320934.3	-	9	1688	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	353	Peptidase S8.			A -> T (in Ref. 7; ACA06037). {ECO:0000305}.	peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTCATCCACAGCTCCTAGGGA	0.552			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													78.0	66.0	70.0					11																	117094021		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1058C>T	11.37:g.117094021G>A	ENSP00000325917:p.Ala353Val		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.A353V	ENST00000320934.3	37	c.1058	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.073537	0.94000	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.89617	-2.54	5.74	4.83	0.62350	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.518606	0.22425	N	0.060224	D	0.95385	0.8502	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95993	0.8987	10	0.87932	D	0	-1.4585	13.8586	0.63545	0.0731:0.0:0.9269:0.0	.	353	Q16549	PCSK7_HUMAN	V	353	ENSP00000325917:A353V	ENSP00000325917:A353V	A	-	2	0	PCSK7	116599231	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	8.960000	0.93117	1.434000	0.47414	0.655000	0.94253	GCT	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.552	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	G	NM_004716		117094021	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE4DIP	9659	genome.wustl.edu	37	1	144879121	144879121	+	Silent	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:144879121C>T	ENST00000369354.3	-	27	4518	c.4329G>A	c.(4327-4329)caG>caA	p.Q1443Q	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.Q1579Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.Q1443Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1399Q|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369359.4_Silent_p.Q1579Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1443					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGATACTCTCTGGATGAGAC	0.557			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													102.0	111.0	108.0					1																	144879121		2203	4299	6502	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4329G>A	1.37:g.144879121C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q1443	ENST00000369354.3	37	c.4329	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.557	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879121	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.996	T
PHLPP2	23035	genome.wustl.edu	37	16	71715677	71715677	+	Frame_Shift_Del	DEL	G	G	-	rs368034412		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr16:71715677delG	ENST00000568954.1	-	6	1245	c.867delC	c.(865-867)cccfs	p.P289fs	PHLPP2_ENST00000356272.3_Frame_Shift_Del_p.P289fs|PHLPP2_ENST00000567016.1_Frame_Shift_Del_p.P324fs|PHLPP2_ENST00000393524.2_Frame_Shift_Del_p.P289fs|PHLPP2_ENST00000360429.3_Frame_Shift_Del_p.P289fs			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	289					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P289P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CGAGGCCTCCGGGTCTTTCTA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											118.0	114.0	115.0					16																	71715677		2198	4300	6498	SO:0001589	frameshift_variant	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.867delC	16.37:g.71715677delG	ENSP00000457991:p.Pro289fs		A1L374|Q9NV17|Q9Y2E3	Frame_Shift_Del	DEL	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.G290fs	ENST00000568954.1	37	c.867	CCDS32479.1	16																																																																																			PHLPP2	-	NULL		0.443	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	G	NM_015020		71715677	-1	no_errors	ENST00000356272	ensembl	human	known	70_37	frame_shift_del	DEL	0.997	-
PLXNB2	23654	genome.wustl.edu	37	22	50724315	50724315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:50724315G>A	ENST00000449103.1	-	11	2142	c.2002C>T	c.(2002-2004)Cag>Tag	p.Q668*	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q668*			O15031	PLXB2_HUMAN	plexin B2	668					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)		CCCAGGAACTGGGGACAGCTG	0.647																																																	0													56.0	60.0	59.0					22																	50724315		1989	4150	6139	SO:0001587	stop_gained	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.2002C>T	22.37:g.50724315G>A	ENSP00000409171:p.Gln668*		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_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.Q668*	ENST00000449103.1	37	c.2002	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.773322	0.98480	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.9	4.9	0.64082	.	0.707365	0.12283	N	0.482703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.5784	0.61888	0.0:0.0:1.0:0.0	.	.	.	.	X	668	.	ENSP00000352288:Q668X	Q	-	1	0	PLXNB2	49066442	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	7.425000	0.80255	2.275000	0.75901	0.561000	0.74099	CAG	PLXNB2	-	NULL		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	G	NM_012401		50724315	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PPP1R37	284352	genome.wustl.edu	37	19	45646855	45646855	+	Silent	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:45646855C>G	ENST00000221462.4	+	8	1315	c.951C>G	c.(949-951)ctC>ctG	p.L317L	PPP1R37_ENST00000421905.1_Silent_p.L317L	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	317					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACAACCAGCTCACGCACACAG	0.652																																																	0																																										SO:0001819	synonymous_variant	284352			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.951C>G	19.37:g.45646855C>G			B5MDA4|Q8IWK3|Q8TF16	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L317	ENST00000221462.4	37	c.951	CCDS56096.1	19																																																																																			PPP1R37	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.652	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	C	NM_173634		45646855	+1	no_errors	ENST00000221462	ensembl	human	known	70_37	silent	SNP	1.000	G
PRPF19	27339	genome.wustl.edu	37	11	60666347	60666347	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:60666347C>G	ENST00000227524.4	-	12	1246	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AGCCGGAGGTCTCATCTGTCA	0.408											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21.0	20.0	20.0					11																	60666347		2203	4299	6502	SO:0001583	missense	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1041G>C	11.37:g.60666347C>G	ENSP00000227524:p.Glu347Asp	1047		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E347D	ENST00000227524.4	37	c.1041	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596375	0.28445	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	T;T	0.61742	0.08;5.02	5.07	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	N	0.02315	-0.6	0.52099	D	0.999948	B	0.09022	0.002	B	0.15052	0.012	T	0.07366	-1.0776	10	0.18710	T	0.47	-33.4093	8.2788	0.31887	0.0:0.7609:0.0:0.2391	.	347	Q9UMS4	PRP19_HUMAN	D	347;19	ENSP00000227524:E347D;ENSP00000445435:E19D	ENSP00000227524:E347D	E	-	3	2	PRPF19	60422923	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.344000	0.33941	1.370000	0.46153	0.655000	0.94253	GAG	PRPF19	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat_dom		0.408	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	C	NM_014502		60666347	-1	no_errors	ENST00000227524	ensembl	human	known	70_37	missense	SNP	1.000	G
PTGER3	5733	genome.wustl.edu	37	1	71512631	71512631	+	Missense_Mutation	SNP	G	G	C	rs544715174		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:71512631G>C	ENST00000306666.5	-	1	840	c.630C>G	c.(628-630)atC>atG	p.I210M	PTGER3_ENST00000370924.4_Missense_Mutation_p.I210M|PTGER3_ENST00000370931.3_Missense_Mutation_p.I210M|PTGER3_ENST00000354608.5_Missense_Mutation_p.I210M|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Missense_Mutation_p.I210M|PTGER3_ENST00000460330.1_Missense_Mutation_p.I210M|PTGER3_ENST00000356595.4_Missense_Mutation_p.I210M|PTGER3_ENST00000370932.2_Missense_Mutation_p.I210M|PTGER3_ENST00000351052.5_Missense_Mutation_p.I210M	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	210					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCCGGTGCTGATGAAGCACC	0.667																																																	0													57.0	59.0	58.0					1																	71512631		2203	4300	6503	SO:0001583	missense	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.630C>G	1.37:g.71512631G>C	ENSP00000302313:p.Ile210Met		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.I210M	ENST00000306666.5	37	c.630	CCDS657.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279431	0.59758	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.1	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.79614	2.46	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	T	0.51980	-0.8636	10	0.59425	D	0.04	-21.5734	8.5405	0.33390	0.2813:0.0:0.7187:0.0	.	210;210;210;210;210;210;210;210	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	M	210	ENSP00000359969:I210M;ENSP00000359970:I210M;ENSP00000280208:I210M;ENSP00000418073:I210M;ENSP00000346624:I210M;ENSP00000349003:I210M;ENSP00000401423:I210M;ENSP00000302313:I210M;ENSP00000359962:I210M	ENSP00000302313:I210M	I	-	3	3	PTGER3	71285219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.153000	0.31676	0.216000	0.20781	0.462000	0.41574	ATC	PTGER3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt		0.667	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	G	NM_000957		71512631	-1	no_errors	ENST00000354608	ensembl	human	known	70_37	missense	SNP	1.000	C
PTK2B	2185	genome.wustl.edu	37	8	27296867	27296868	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr8:27296867_27296868insC	ENST00000397501.1	+	25	2594_2595	c.1786_1787insC	c.(1786-1788)tccfs	p.S596fs	PTK2B_ENST00000420218.2_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000544172.1_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000517339.1_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000346049.5_Frame_Shift_Ins_p.S596fs|PTK2B_ENST00000397497.4_Frame_Shift_Ins_p.S342fs|PTK2B_ENST00000338238.4_Frame_Shift_Ins_p.S596fs	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GTCCCCAGAGTCCATTAACTTC	0.47																																																	0																																										SO:0001589	frameshift_variant	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1788dupC	8.37:g.27296869_27296869dupC	ENSP00000380638:p.Ser596fs		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I597fs	ENST00000397501.1	37	c.1786_1787	CCDS6057.1	8																																																																																			PTK2B	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.470	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	NM_004103		27296868	+1	no_errors	ENST00000346049	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
PXDN	7837	genome.wustl.edu	37	2	1667376	1667376	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:1667376C>T	ENST00000252804.4	-	12	1618		c.e12+1		PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGCACCTACCTCTGGGCTG	0.522																																																	0													86.0	91.0	89.0					2																	1667376		2004	4155	6159	SO:0001630	splice_region_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1567+1G>A	2.37:g.1667376C>T			A8QM65|D6W4Y0|Q4KMG2	Splice_Site	SNP	-	e12+1	ENST00000252804.4	37	c.1567+1	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254417	0.80135	.	.	ENSG00000130508	ENST00000252804;ENST00000433670	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PXDN	1646383	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	5.611000	0.67674	2.735000	0.93741	0.655000	0.94253	.	PXDN	-	-		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455	Intron	1667376	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	splice_site	SNP	1.000	T
RASSF4	83937	genome.wustl.edu	37	10	45479462	45479462	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr10:45479462G>A	ENST00000334940.6	+	5	435	c.301G>A	c.(301-303)Gtt>Att	p.V101I	RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron			Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCAGTTGTCTGTTTTCAGAAA	0.602																																																	0													34.0	31.0	32.0					10																	45479462		2197	4294	6491	SO:0001583	missense	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000334940.6:c.301G>A	10.37:g.45479462G>A	ENSP00000334543:p.Val101Ile		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.V101I	ENST00000334940.6	37	c.301		10	.	.	.	.	.	.	.	.	.	.	C	5.320	0.244332	0.10077	.	.	ENSG00000107551	ENST00000334940;ENST00000427758	T;T	0.30714	2.54;1.52	4.75	1.77	0.24775	.	.	.	.	.	T	0.22360	0.0539	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22977	-1.0201	6	0.33940	T	0.23	.	4.0296	0.09703	0.1493:0.4544:0.3088:0.0876	.	.	.	.	I	101;119	ENSP00000334543:V101I;ENSP00000409767:V119I	ENSP00000334543:V101I	V	+	1	0	RASSF4	44799468	0.022000	0.18835	0.118000	0.21660	0.322000	0.28314	0.072000	0.14617	0.023000	0.15187	-0.120000	0.15030	GTT	RASSF4	-	NULL		0.602	RASSF4-201	KNOWN	basic	protein_coding	RASSF4	HGNC	protein_coding		G	NM_032023		45479462	+1	no_errors	ENST00000334940	ensembl	human	known	70_37	missense	SNP	0.352	A
RGPD4	285190	genome.wustl.edu	37	2	108487458	108487458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr2:108487458G>T	ENST00000408999.3	+	20	3075	c.2998G>T	c.(2998-3000)Gga>Tga	p.G1000*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1000*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1000					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCAGGTGCTGGAGAAAAATT	0.388																																																	0													1.0	1.0	1.0					2																	108487458		33	219	252	SO:0001587	stop_gained	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2998G>T	2.37:g.108487458G>T	ENSP00000386810:p.Gly1000*		B9A029	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G1000*	ENST00000408999.3	37	c.2998	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	37	6.534962	0.97646	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.258	11.5771	0.50869	0.0:0.0:1.0:0.0	.	.	.	.	X	1000;1000;758	.	ENSP00000347081:G1000X	G	+	1	0	RGPD4	107853890	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GGA	RGPD4	-	NULL		0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108487458	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40705038	40705038	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:40705038G>C	ENST00000372771.4	+	8	4691	c.4664G>C	c.(4663-4665)gGa>gCa	p.G1555A		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1555					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATGGTTCAAGGATGCTTATCT	0.453																																																	0													97.0	100.0	99.0					1																	40705038		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4664G>C	1.37:g.40705038G>C	ENSP00000361857:p.Gly1555Ala		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1555A	ENST00000372771.4	37	c.4664	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924263	0.52653	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.25912	1.77	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.147182	0.64402	D	0.000009	T	0.53932	0.1827	M	0.69823	2.125	0.50632	D	0.999883	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.955	T	0.51834	-0.8655	10	0.87932	D	0	-17.9344	20.5541	0.99286	0.0:0.0:1.0:0.0	.	1248;1555	F5H2M5;Q13129	.;RLF_HUMAN	A	1555;1248	ENSP00000361857:G1555A	ENSP00000361857:G1555A	G	+	2	0	RLF	40477625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.864000	0.98301	0.551000	0.68910	GGA	RLF	-	smart_Znf_C2H2-like		0.453	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	G	NM_012421		40705038	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	C
SDHD	6392	genome.wustl.edu	37	11	111965693	111965693	+	Nonstop_Mutation	SNP	G	G	C	rs201372601		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:111965693G>C	ENST00000375549.3	+	4	614	c.479G>C	c.(478-480)tGa>tCa	p.*160S	SDHD_ENST00000532699.1_Intron|SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000525291.1_Nonstop_Mutation_p.*121S|SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000528021.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	0					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TGGAAGCTCTGACCTTTTTGA	0.423			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	11	11q23	6392	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""		O	0																																										SO:0001578	stop_lost	6392	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.479G>C	11.37:g.111965693G>C	ENSP00000364699:p.*160Serext*3		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Nonstop_Mutation	SNP	pfam_Cyt_b_succ_DH_CybS	p.*160S	ENST00000375549.3	37	c.479	CCDS31678.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624236	0.46840	.	.	ENSG00000204370	ENST00000375549;ENST00000525291	.	.	.	4.76	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2207	0.37375	0.1648:0.0:0.8351:0.0	.	.	.	.	S	160;121	.	.	X	+	2	2	SDHD	111470903	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.273000	0.33121	1.237000	0.43756	0.591000	0.81541	TGA	SDHD	-	NULL		0.423	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHD	HGNC	protein_coding	OTTHUMT00000392351.1	G	NM_003002		111965693	+1	no_errors	ENST00000375549	ensembl	human	known	70_37	nonstop	SNP	1.000	C
SEC16A	9919	genome.wustl.edu	37	9	139348716	139348716	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr9:139348716G>A	ENST00000371706.3	-	19	5420	c.5387C>T	c.(5386-5388)cCa>cTa	p.P1796L	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1796L|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1974L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1796L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1796	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGGGGGCAGTGGCACTGGGAA	0.687																																																	0													7.0	10.0	9.0					9																	139348716		1917	4105	6022	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5387C>T	9.37:g.139348716G>A	ENSP00000360771:p.Pro1796Leu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P1974L	ENST00000371706.3	37	c.5921		9	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843163	0.51057	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.53423	1.62;0.62;1.18;1.62;1.6;1.6	4.61	0.552	0.17230	.	0.509670	0.22811	N	0.055342	T	0.32010	0.0815	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.16541	-1.0399	10	0.46703	T	0.11	-1.6299	4.5901	0.12302	0.2593:0.0:0.5883:0.1525	.	1974;1796;1796;1364;1796	F1T0I1;O15027-5;O15027-4;A4QN19;O15027	.;.;.;.;SC16A_HUMAN	L	1974;368;696;1796;1796;1796;1364	ENSP00000325827:P1974L;ENSP00000277537:P368L;ENSP00000403525:P696L;ENSP00000360771:P1796L;ENSP00000290037:P1796L;ENSP00000387583:P1796L	ENSP00000277537:P368L	P	-	2	0	SEC16A	138468537	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	0.366000	0.20365	-0.012000	0.14223	-0.291000	0.09656	CCA	SEC16A	-	NULL		0.687	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139348716	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.004	A
SEPT5	5413	genome.wustl.edu	37	22	19709996	19709996	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:19709996C>G	ENST00000455784.2	+	12	1224	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	SEPT5_ENST00000383045.3_Missense_Mutation_p.Q376E|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000438754.2_3'UTR	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	367					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCAGATGCAGGACCAGTG	0.697																																																	0													30.0	30.0	30.0					22																	19709996		2185	4286	6471	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.1099C>G	22.37:g.19709996C>G	ENSP00000391311:p.Gln367Glu		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.Q376E	ENST00000455784.2	37	c.1126	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402186	0.62288	.	.	ENSG00000184702	ENST00000455784;ENST00000383045	T;T	0.53206	0.64;0.63	3.57	3.57	0.40892	.	0.240620	0.34484	N	0.003931	T	0.41488	0.1161	L	0.47190	1.495	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33954	-0.9848	10	0.30078	T	0.28	.	15.7216	0.77713	0.0:1.0:0.0:0.0	.	367	Q99719	SEPT5_HUMAN	E	367;376	ENSP00000391311:Q367E;ENSP00000372515:Q376E	ENSP00000372515:Q376E	Q	+	1	0	SEPT5	18089996	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.688000	0.54699	2.011000	0.59026	0.411000	0.27672	CAG	SEPT5	-	pirsf_Septin		0.697	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	C	NM_002688		19709996	+1	no_errors	ENST00000383045	ensembl	human	known	70_37	missense	SNP	1.000	G
SESN3	143686	genome.wustl.edu	37	11	94926637	94926637	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:94926637A>C	ENST00000536441.1	-	2	464	c.128T>G	c.(127-129)tTt>tGt	p.F43C	SESN3_ENST00000416495.2_Missense_Mutation_p.F43C|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.F43C|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	43					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CTCTGGAATAAAGGCACTTGG	0.279																																																	0													69.0	73.0	71.0					11																	94926637		2201	4291	6492	SO:0001583	missense	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.128T>G	11.37:g.94926637A>C	ENSP00000441927:p.Phe43Cys		B7Z7P9|Q96AD1	Missense_Mutation	SNP	pfam_PA26	p.F43C	ENST00000536441.1	37	c.128	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224213	0.79576	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.67684	-0.5607	10	0.87932	D	0	-0.0559	16.6093	0.84858	1.0:0.0:0.0:0.0	.	43;43	P58005-3;P58005	.;SESN3_HUMAN	C	43;43;43;20	ENSP00000441927:F43C;ENSP00000376926:F43C;ENSP00000407008:F43C;ENSP00000439580:F20C	ENSP00000376926:F43C	F	-	2	0	SESN3	94566285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.960000	0.87893	2.324000	0.78689	0.533000	0.62120	TTT	SESN3	-	pfam_PA26		0.279	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	A	NM_144665		94926637	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	missense	SNP	1.000	C
SFMBT1	51460	genome.wustl.edu	37	3	52962220	52962220	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:52962220G>A	ENST00000394752.3	-	9	1417	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SFMBT1_ENST00000358080.2_Silent_p.I345I|SFMBT1_ENST00000394750.1_Silent_p.I345I|SFMBT1_ENST00000296295.6_Silent_p.I345I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	345					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAGGGGGGCTGATGTGTAGGC	0.522																																																	0													133.0	127.0	129.0					3																	52962220		2203	4300	6503	SO:0001819	synonymous_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1035C>T	3.37:g.52962220G>A			Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.I345	ENST00000394752.3	37	c.1035	CCDS2867.1	3																																																																																			SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.522	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52962220	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC22A9	114571	genome.wustl.edu	37	11	63149671	63149671	+	Frame_Shift_Del	DEL	A	A	-	rs564236291|rs76547355|rs78765214	byFrequency	TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr11:63149671delA	ENST00000279178.3	+	6	1244	c.995delA	c.(994-996)caafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GAGGCAGCACAAAAAAAAAAA	0.398														181	0.0361422	0.0651	0.0187	5008	,	,		18548	0.0109		0.0139	False		,,,				2504	0.0583																0													133.0	130.0	131.0					11																	63149671		2201	4298	6499	SO:0001589	frameshift_variant	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.995delA	11.37:g.63149671delA	ENSP00000279178:p.Gln332fs		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Del	DEL	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K335fs	ENST00000279178.3	37	c.995	CCDS8043.1	11																																																																																			SLC22A9	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	A	NM_080866		63149671	+1	no_errors	ENST00000279178	ensembl	human	known	70_37	frame_shift_del	DEL	0.005	-
SLC5A4	6527	genome.wustl.edu	37	22	32633298	32633298	+	Silent	SNP	C	C	T	rs142506993		TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr22:32633298C>T	ENST00000266086.4	-	7	608	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	199					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S199S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTAAATCACCGAGGCCAAGC	0.502																																																	1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	77.0	58.0	65.0		597	-9.1	0.4	22	dbSNP_134	65	1,8599		0,1,4299	no	coding-synonymous	SLC5A4	NM_014227.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		199/660	32633298	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.597G>A	22.37:g.32633298C>T			O15279	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.S199	ENST00000266086.4	37	c.597	CCDS13903.1	22																																																																																			SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.502	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	C	NM_014227		32633298	-1	no_errors	ENST00000266086	ensembl	human	known	70_37	silent	SNP	0.065	T
SPTA1	6708	genome.wustl.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																																	1	Substitution - Nonsense(1)	endometrium(1)											175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R891*	ENST00000368147.4	37	c.2671	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158627401	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	nonsense	SNP	0.996	A
TAF8	129685	genome.wustl.edu	37	6	42036293	42036293	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr6:42036293C>T	ENST00000372977.3	+	7	746	c.728C>T	c.(727-729)tCg>tTg	p.S243L	TAF8_ENST00000494547.1_Missense_Mutation_p.S243L|TAF8_ENST00000372982.4_Missense_Mutation_p.S243L|TAF8_ENST00000465926.1_Missense_Mutation_p.S167L|TAF8_ENST00000456846.2_Missense_Mutation_p.S243L	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	243					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACAGATTCCTCGGAGCAGGAT	0.507																																																	0													196.0	202.0	200.0					6																	42036293		2050	4201	6251	SO:0001583	missense	129685			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.728C>T	6.37:g.42036293C>T	ENSP00000362068:p.Ser243Leu		Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP	p.S243L	ENST00000372977.3	37	c.728	CCDS43462.1	6	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919094	0.73098	.	.	ENSG00000137413	ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.22983	0.004;0.023;0.078;0.014	B;B;B;B	0.12156	0.001;0.007;0.007;0.003	T	0.20773	-1.0265	9	0.23891	T	0.37	-15.6765	20.1963	0.98243	0.0:1.0:0.0:0.0	.	167;243;243;243	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	L	243;243;243;243;167	.	ENSP00000362068:S243L	S	+	2	0	TAF8	42144271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	2.878000	0.98634	0.650000	0.86243	TCG	TAF8	-	NULL		0.507	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF8	HGNC	protein_coding	OTTHUMT00000357901.1	C	NM_138572		42036293	+1	no_errors	ENST00000372982	ensembl	human	known	70_37	missense	SNP	1.000	T
TEFM	79736	genome.wustl.edu	37	17	29227455	29227455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:29227455G>T	ENST00000581216.1	-	3	1242	c.621C>A	c.(619-621)taC>taA	p.Y207*	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_Nonsense_Mutation_p.Y207*	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	207					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CTGATGATGAGTATATTCCTC	0.443																																																	0													103.0	98.0	100.0					17																	29227455		1900	4124	6024	SO:0001587	stop_gained	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.621C>A	17.37:g.29227455G>T	ENSP00000462963:p.Tyr207*		E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom	p.Y207*	ENST00000581216.1	37	c.621	CCDS42291.1	17	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019011	0.54576	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.97	5.97	0.96955	.	0.112469	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4516	13.2009	0.59767	0.0763:0.0:0.9237:0.0	.	.	.	.	X	207	.	ENSP00000306574:Y207X	Y	-	3	2	C17orf42	26251581	0.963000	0.33076	0.249000	0.24280	0.013000	0.08279	1.532000	0.36029	2.833000	0.97629	0.585000	0.79938	TAC	TEFM	-	superfamily_RNaseH-like_dom		0.443	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	G	NM_024683		29227455	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	nonsense	SNP	0.897	T
TMC2	117532	genome.wustl.edu	37	20	2621941	2621941	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr20:2621941C>G	ENST00000358864.1	+	20	2680	c.2665C>G	c.(2665-2667)Cag>Gag	p.Q889E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	889					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGCCCCATCTCAGACTCATCC	0.597																																																	0													64.0	59.0	61.0					20																	2621941		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2665C>G	20.37:g.2621941C>G	ENSP00000351732:p.Gln889Glu		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.Q889E	ENST00000358864.1	37	c.2665	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382079	0.11524	.	.	ENSG00000149488	ENST00000358864	T	0.63580	-0.05	4.7	3.67	0.42095	.	1.211230	0.06090	N	0.663507	T	0.53222	0.1783	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.49570	-0.8926	10	0.02654	T	1	-2.2843	10.0938	0.42462	0.0:0.7959:0.204:0.0	.	889	Q8TDI7	TMC2_HUMAN	E	889	ENSP00000351732:Q889E	ENSP00000351732:Q889E	Q	+	1	0	TMC2	2569941	0.653000	0.27358	0.216000	0.23742	0.019000	0.09904	1.998000	0.40796	2.539000	0.85634	0.591000	0.81541	CAG	TMC2	-	NULL		0.597	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2621941	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.293	G
TRIM71	131405	genome.wustl.edu	37	3	32915396	32915396	+	Silent	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr3:32915396C>T	ENST00000383763.5	+	2	1002	c.939C>T	c.(937-939)taC>taT	p.Y313Y		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	313					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTCATCTACCTCCAGGAGG	0.607																																																	0													150.0	160.0	157.0					3																	32915396		2118	4229	6347	SO:0001819	synonymous_variant	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.939C>T	3.37:g.32915396C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y313	ENST00000383763.5	37	c.939	CCDS43060.1	3																																																																																			TRIM71	-	smart_Znf_B-box,pfscan_Znf_B-box		0.607	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	C	NM_001039111		32915396	+1	no_errors	ENST00000383763	ensembl	human	known	70_37	silent	SNP	1.000	T
TSPEAR	54084	genome.wustl.edu	37	21	45924730	45924730	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr21:45924730C>A	ENST00000323084.4	-	11	1854	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	597					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGAAATAATCTTCTCCCACC	0.537																																																	0													86.0	81.0	83.0					21																	45924730		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1789G>T	21.37:g.45924730C>A	ENSP00000321987:p.Asp597Tyr			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.D597Y	ENST00000323084.4	37	c.1789	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864360	0.71949	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	D	0.84146	-1.81	4.72	4.72	0.59763	.	0.178825	0.47455	D	0.000233	D	0.87442	0.6178	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87947	0.2721	10	0.42905	T	0.14	-21.8458	18.1203	0.89569	0.0:1.0:0.0:0.0	.	597	Q8WU66	TSEAR_HUMAN	Y	597;450	ENSP00000321987:D597Y	ENSP00000321987:D597Y	D	-	1	0	TSPEAR	44749158	1.000000	0.71417	0.983000	0.44433	0.904000	0.53231	5.071000	0.64382	2.364000	0.80123	0.650000	0.86243	GAT	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.537	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45924730	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC13B	10497	genome.wustl.edu	37	9	35313966	35313966	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr9:35313966G>C	ENST00000378495.3	+	10	1369	c.1147G>C	c.(1147-1149)Gtt>Ctt	p.V383L	UNC13B_ENST00000378496.4_Missense_Mutation_p.V383L|UNC13B_ENST00000396787.1_Missense_Mutation_p.V395L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	383					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGTTACCAAGGTTCGACTCCA	0.433																																																	0													154.0	141.0	146.0					9																	35313966		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1147G>C	9.37:g.35313966G>C	ENSP00000367756:p.Val383Leu		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V395L	ENST00000378495.3	37	c.1183	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.147790	0.94603	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.87029	-2.08;-2.01;-2.2	5.74	5.74	0.90152	.	0.138983	0.47852	D	0.000210	D	0.92260	0.7545	L	0.54323	1.7	0.58432	D	0.999998	P;D;D	0.67145	0.952;0.996;0.984	P;D;D	0.77557	0.78;0.99;0.956	D	0.91507	0.5224	10	0.49607	T	0.09	-8.6315	19.9326	0.97124	0.0:0.0:1.0:0.0	.	383;383;383	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	L	395;383;383	ENSP00000380006:V395L;ENSP00000367756:V383L;ENSP00000367757:V383L	ENSP00000367756:V383L	V	+	1	0	UNC13B	35303966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.042000	0.76565	2.720000	0.93068	0.650000	0.86243	GTT	UNC13B	-	NULL		0.433	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35313966	+1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR47	22911	genome.wustl.edu	37	1	109514103	109514103	+	Silent	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:109514103G>A	ENST00000369962.3	-	15	2931	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	WDR47_ENST00000369965.4_Silent_p.F904F|WDR47_ENST00000357672.3_Silent_p.F875F|WDR47_ENST00000361054.3_Silent_p.F875F|WDR47_ENST00000400794.3_Silent_p.F911F			O94967	WDR47_HUMAN	WD repeat domain 47	903					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGGATGACAGGAAGGAAAGAT	0.498																																																	0													199.0	182.0	188.0					1																	109514103		2203	4300	6503	SO:0001819	synonymous_variant	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2709C>T	1.37:g.109514103G>A			A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F911	ENST00000369962.3	37	c.2733	CCDS44187.1	1																																																																																			WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.498	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	G	NM_014969		109514103	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	silent	SNP	1.000	A
WARS2	10352	genome.wustl.edu	37	1	119683254	119683254	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr1:119683254G>A	ENST00000235521.4	-	1	40	c.14C>T	c.(13-15)tCa>tTa	p.S5L	RP11-418J17.1_ENST00000418015.1_RNA|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000369426.5_Missense_Mutation_p.S5L|RP11-418J17.1_ENST00000413531.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000537870.1_5'Flank	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	5					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTTCCGCATTGAGTGCAGCGC	0.607																																																	0													36.0	37.0	37.0					1																	119683254		2203	4300	6503	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.14C>T	1.37:g.119683254G>A	ENSP00000235521:p.Ser5Leu		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.S5L	ENST00000235521.4	37	c.14	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913369	0.52439	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.43294	0.95;1.96	6.04	5.06	0.68205	.	0.693199	0.13591	N	0.376626	T	0.15305	0.0369	L	0.34521	1.04	0.43988	D	0.996684	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.17107	-1.0380	10	0.87932	D	0	-4.2569	3.9842	0.09507	0.2805:0.0:0.7195:0.0	.	5;5;5;5	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	L	5	ENSP00000358434:S5L;ENSP00000235521:S5L	ENSP00000235521:S5L	S	-	2	0	WARS2	119484777	1.000000	0.71417	0.233000	0.24025	0.924000	0.55760	2.886000	0.48578	1.470000	0.48102	0.561000	0.74099	TCA	WARS2	-	NULL		0.607	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1	G	NM_015836		119683254	-1	no_errors	ENST00000235521	ensembl	human	known	70_37	missense	SNP	0.335	A
WDR81	124997	genome.wustl.edu	37	17	1629541	1629541	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr17:1629541G>C	ENST00000409644.1	+	1	1288	c.1288G>C	c.(1288-1290)Ggc>Cgc	p.G430R	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	430	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCGGGGCGGGCGGCGGGGA	0.612																																																	0													17.0	23.0	21.0					17																	1629541		692	1587	2279	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1288G>C	17.37:g.1629541G>C	ENSP00000386609:p.Gly430Arg		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G430R	ENST00000409644.1	37	c.1288	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482877	0.12581	.	.	ENSG00000167716	ENST00000409644	T	0.53423	0.62	5.4	2.69	0.31865	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58847	-0.7564	6	0.72032	D	0.01	.	9.3037	0.37863	0.3116:0.0:0.6884:0.0	.	.	.	.	R	430	ENSP00000386609:G430R	ENSP00000386609:G430R	G	+	1	0	WDR81	1576291	0.927000	0.31430	0.025000	0.17156	0.090000	0.18270	2.274000	0.43390	1.092000	0.41356	0.462000	0.41574	GGC	WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629541	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.597	C
ZCWPW1	55063	genome.wustl.edu	37	7	100004362	100004362	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr7:100004362G>T	ENST00000398027.2	-	12	1372	c.1125C>A	c.(1123-1125)aaC>aaA	p.N375K	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.N376K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.N255K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.N255K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	375	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTTAGCATGTTGACTGGGA	0.438																																																	0													124.0	128.0	127.0					7																	100004362		1902	4131	6033	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1125C>A	7.37:g.100004362G>T	ENSP00000381109:p.Asn375Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.N375K	ENST00000398027.2	37	c.1125	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088227	0.36855	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.44	2.64	0.31445	PWWP (2);	0.549902	0.16709	N	0.202757	T	0.51381	0.1671	N	0.10782	0.045	0.27441	N	0.95373	P;P;P;P;P	0.49559	0.925;0.88;0.925;0.88;0.908	P;B;P;B;P	0.49922	0.468;0.366;0.626;0.366;0.492	T	0.42103	-0.9471	9	.	.	.	-6.1055	8.0299	0.30459	0.2516:0.0:0.7484:0.0	.	376;336;378;375;255	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	K	375;255;376;255;125;378	ENSP00000381109:N375K;ENSP00000419187:N255K;ENSP00000354210:N376K;ENSP00000314880:N255K;ENSP00000418351:N125K	.	N	-	3	2	ZCWPW1	99842298	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.602000	0.36783	0.257000	0.21650	-0.136000	0.14681	AAC	ZCWPW1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP		0.438	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	G	NM_017984		100004362	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF160	90338	genome.wustl.edu	37	19	53571415	53571415	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:53571415C>T	ENST00000429604.1	-	7	2787	c.2372G>A	c.(2371-2373)tGt>tAt	p.C791Y	ZNF160_ENST00000601421.1_Missense_Mutation_p.C755Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.C791Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.C791Y	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	791					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATTACATTTGTAACG	0.438																																																	0													152.0	139.0	143.0					19																	53571415		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2372G>A	19.37:g.53571415C>T	ENSP00000406201:p.Cys791Tyr		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.C791Y	ENST00000429604.1	37	c.2372	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059044	0.55325	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	D;D	0.85088	-1.94;-1.94	2.52	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93828	0.8026	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94677	0.7862	9	0.72032	D	0.01	.	12.1205	0.53889	0.0:1.0:0.0:0.0	.	791	Q9HCG1	ZN160_HUMAN	Y	791	ENSP00000406201:C791Y;ENSP00000409597:C791Y	ENSP00000409597:C791Y	C	-	2	0	ZNF160	58263227	0.948000	0.32251	0.019000	0.16419	0.051000	0.14879	2.996000	0.49449	1.384000	0.46424	0.591000	0.81541	TGT	ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	C	NM_033288		53571415	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.909	T
ZNF160	90338	genome.wustl.edu	37	19	53573149	53573149	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3TX-01A-11D-A22X-09	TCGA-FU-A3TX-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7b951ed-7d8e-4c35-b458-d119cc5e3fd7	c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c	g.chr19:53573149T>C	ENST00000429604.1	-	7	1053	c.638A>G	c.(637-639)aAt>aGt	p.N213S	ZNF160_ENST00000601421.1_Missense_Mutation_p.N177S|ZNF160_ENST00000418871.1_Missense_Mutation_p.N213S|ZNF160_ENST00000599056.1_Missense_Mutation_p.N213S	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	213					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGAGGAACCATTGTTGGTAGA	0.388																																																	0													180.0	168.0	172.0					19																	53573149		2203	4300	6503	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.638A>G	19.37:g.53573149T>C	ENSP00000406201:p.Asn213Ser		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.N213S	ENST00000429604.1	37	c.638	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	T	7.329	0.618488	0.14129	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.06608	3.28;3.28	1.83	-2.94	0.05581	.	.	.	.	.	T	0.02610	0.0079	N	0.12961	0.28	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.47058	-0.9146	9	0.07990	T	0.79	.	3.9399	0.09323	0.2074:0.501:0.0:0.2917	.	213	Q9HCG1	ZN160_HUMAN	S	213	ENSP00000406201:N213S;ENSP00000409597:N213S	ENSP00000409597:N213S	N	-	2	0	ZNF160	58264961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-0.898000	0.03906	-0.366000	0.07423	AAT	ZNF160	-	NULL		0.388	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	T	NM_033288		53573149	-1	no_errors	ENST00000418871	ensembl	human	known	70_37	missense	SNP	0.001	C
