#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAM29	11086	genome.wustl.edu	37	4	175897708	175897708	+	Silent	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr4:175897708G>A	ENST00000359240.3	+	5	1702	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	ADAM29_ENST00000514159.1_Silent_p.E344E|ADAM29_ENST00000404450.4_Silent_p.E344E|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.E344E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	344	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCATGATGAGGATACATGTC	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											0													148.0	143.0	145.0					4																	175897708		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1032G>A	4.37:g.175897708G>A			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E344	ENST00000359240.3	37	c.1032	CCDS3823.1	4																																																																																			ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		38	0.00	0	G			175897708	175897708	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	silent	31	65.93	60	SNP	0.000	A
ALDOC	230	genome.wustl.edu	37	17	26901258	26901258	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr17:26901258A>G	ENST00000226253.4	-	7	1101	c.626T>C	c.(625-627)gTc>gCc	p.V209A	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Splice_Site_p.V209A|PIGS_ENST00000543734.1_5'Flank|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395319.3_Splice_Site_p.V181A|PIGS_ENST00000395346.2_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	209					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGCAGCCAAGACCTGGGTGGG	0.587																																						dbGAP											0													97.0	105.0	103.0					17																	26901258		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.625-1T>C	17.37:g.26901258A>G			B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.V209A	ENST00000226253.4	37	c.626	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414164	0.83449	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.90955	-2.76;-2.76;-2.76	5.58	5.58	0.84498	Aldolase-type TIM barrel (1);	0.056805	0.64402	D	0.000001	D	0.95364	0.8495	M	0.85542	2.76	0.80722	D	1	P;D	0.57257	0.688;0.979	P;D	0.66084	0.491;0.941	D	0.95910	0.8922	10	0.72032	D	0.01	-4.5744	15.415	0.74960	1.0:0.0:0.0:0.0	.	181;209	A8MVZ9;P09972	.;ALDOC_HUMAN	A	181;209;209	ENSP00000378729:V181A;ENSP00000226253:V209A;ENSP00000378731:V209A	ENSP00000226253:V209A	V	-	2	0	ALDOC	23925385	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.329000	0.96413	2.131000	0.65755	0.454000	0.30748	GTC	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.587	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	27	0.00	0	A		Missense_Mutation	26901258	26901258	-1	no_errors	ENST00000226253	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	G
CASP4	837	genome.wustl.edu	37	11	104825700	104825700	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr11:104825700C>G	ENST00000444739.2	-	2	946	c.36G>C	c.(34-36)aaG>aaC	p.K12N	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	12	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTCCAACACCTTAAGTGGCT	0.378																																						dbGAP											0													87.0	83.0	84.0					11																	104825700		2202	4299	6501	-	-	-	SO:0001583	missense	0			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.36G>C	11.37:g.104825700C>G	ENSP00000388566:p.Lys12Asn		A2NHL8|A2NHM0	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.K12N	ENST00000444739.2	37	c.36	CCDS8327.1	11	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577147	0.13686	.	.	ENSG00000196954	ENST00000444739;ENST00000417440	T;T	0.22336	1.96;1.96	3.6	0.643	0.17770	DEATH-like (2);Caspase Recruitment (3);	0.847542	0.10670	N	0.647620	T	0.35364	0.0929	L	0.59436	1.845	0.20196	N	0.999928	D;P;B	0.89917	1.0;0.567;0.195	D;B;B	0.80764	0.994;0.445;0.093	T	0.18304	-1.0341	10	0.31617	T	0.26	.	5.9603	0.19295	0.0:0.6456:0.0:0.3544	.	12;12;12	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	N	12	ENSP00000388566:K12N;ENSP00000401673:K12N	ENSP00000401673:K12N	K	-	3	2	CASP4	104330910	0.003000	0.15002	0.006000	0.13384	0.003000	0.03518	0.457000	0.21875	0.027000	0.15297	-0.727000	0.03589	AAG	CASP4	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000196954		0.378	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP4	HGNC	protein_coding	OTTHUMT00000387751.1	56	0.00	0	C	NM_001225		104825700	104825700	-1	no_errors	ENST00000444739	ensembl	human	known	69_37n	missense	40	43.66	31	SNP	0.009	G
CNTRL	11064	genome.wustl.edu	37	9	123930557	123930557	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr9:123930557G>A	ENST00000373855.1	+	38	6288	c.6028G>A	c.(6028-6030)Gag>Aag	p.E2010K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1458K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E2010K			Q7Z7A1	CNTRL_HUMAN	centriolin	2010	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAGGAAGAGGAGAGGTGGTG	0.502																																						dbGAP											0													114.0	116.0	115.0					9																	123930557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6028G>A	9.37:g.123930557G>A	ENSP00000362962:p.Glu2010Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E2010K	ENST00000373855.1	37	c.6028	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033158	0.75504	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.34667	1.65;1.65;1.35	6.16	6.16	0.99307	.	.	.	.	.	T	0.39279	0.1072	L	0.55481	1.735	0.42150	D	0.991559	P	0.39665	0.682	B	0.40165	0.321	T	0.06215	-1.0839	9	0.19590	T	0.45	.	19.4236	0.94732	0.0:0.0:1.0:0.0	.	2010	Q7Z7A1	CNTRL_HUMAN	K	2010;2010;2010;766;167;1458;692	ENSP00000362962:E2010K;ENSP00000238341:E2010K;ENSP00000362956:E1458K	ENSP00000238341:E2010K	E	+	1	0	CNTRL	122970378	1.000000	0.71417	0.996000	0.52242	0.676000	0.39594	3.670000	0.54569	2.937000	0.99478	0.650000	0.86243	GAG	CNTRL	-	NULL	ENSG00000119397		0.502	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	68	0.00	0	G	NM_007018		123930557	123930557	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	36	63.27	62	SNP	1.000	A
CRIM1	51232	genome.wustl.edu	37	2	36583699	36583699	+	Silent	SNP	G	G	C			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr2:36583699G>C	ENST00000280527.2	+	1	631	c.264G>C	c.(262-264)ctG>ctC	p.L88L	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	88	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACCGGGGGCTGCGTTGTGTCA	0.692																																						dbGAP											0													38.0	39.0	39.0					2																	36583699		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.264G>C	2.37:g.36583699G>C			Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	NULL	p.C29S	ENST00000280527.2	37	c.86	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457643	0.26161	.	.	ENSG00000150938	ENST00000428774	.	.	.	3.26	1.11	0.20524	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54207	-0.8328	4	.	.	.	-4.187	10.3613	0.43996	0.0:0.0:0.6541:0.3459	.	.	.	.	S	29	.	.	C	+	2	0	CRIM1	36437203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.584000	0.23864	0.465000	0.27167	0.644000	0.83932	TGC	CRIM1	-	NULL	ENSG00000150938		0.692	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	12	0.00	0	G	NM_016441		36583699	36583699	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428774	ensembl	human	putative	69_37n	missense	5	44.44	4	SNP	1.000	C
DCAF7	10238	genome.wustl.edu	37	17	61662631	61662631	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr17:61662631G>A	ENST00000310827.4	+	7	1014	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Missense_Mutation_p.R66Q	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	266					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AACAACCATCGAGCATGTGTC	0.507																																						dbGAP											0													118.0	116.0	117.0					17																	61662631		1960	4154	6114	-	-	-	SO:0001583	missense	0			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.797G>A	17.37:g.61662631G>A	ENSP00000308344:p.Arg266Gln		B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R266Q	ENST00000310827.4	37	c.797		17	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892569	0.91889	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.59772	0.24;0.24	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.119971	0.56097	D	0.000022	T	0.69620	0.3131	.	.	.	0.80722	D	1	D;B	0.64830	0.994;0.094	P;B	0.60886	0.88;0.064	T	0.63611	-0.6598	9	0.22706	T	0.39	-10.62	18.8923	0.92410	0.0:0.0:1.0:0.0	.	66;266	B4E039;P61962	.;DCAF7_HUMAN	Q	266;66	ENSP00000308344:R266Q;ENSP00000403920:R66Q	ENSP00000308344:R266Q	R	+	2	0	DCAF7	59016363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.615000	0.98356	2.698000	0.92095	0.561000	0.74099	CGA	DCAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136485		0.507	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		61	0.00	0	G	NM_005828		61662631	61662631	+1	no_errors	ENST00000310827	ensembl	human	known	69_37n	missense	76	26.21	27	SNP	1.000	A
DHX37	57647	genome.wustl.edu	37	12	125448967	125448967	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr12:125448967C>T	ENST00000308736.2	-	15	2116	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	DHX37_ENST00000544745.1_Missense_Mutation_p.G460E	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	673	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCCGTCCGTCCTGCTCTGCC	0.622																																						dbGAP											0													80.0	75.0	77.0					12																	125448967		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2018G>A	12.37:g.125448967C>T	ENSP00000311135:p.Gly673Glu		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G673E	ENST00000308736.2	37	c.2018	CCDS9261.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.831106|4.831106	0.91036|0.91036	.|.	.|.	ENSG00000150990|ENSG00000150990	ENST00000543962|ENST00000308736;ENST00000544745	.|D;D	.|0.81821	.|-1.54;-1.54	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Helicase, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95130|0.95130	0.8422|0.8422	H|H	0.99834|0.99834	4.825|4.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97833|0.97833	1.0264|1.0264	6|10	0.87932|0.87932	D|D	0|0	-5.4772|-5.4772	18.2623|18.2623	0.90039|0.90039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|Q8IY37	.|DHX37_HUMAN	N|E	125|673;460	.|ENSP00000311135:G673E;ENSP00000439009:G460E	ENSP00000443661:D125N|ENSP00000311135:G673E	D|G	-|-	1|2	0|0	DHX37|DHX37	124014920|124014920	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.655000|0.655000	0.38815|0.38815	7.501000|7.501000	0.81600|0.81600	2.419000|2.419000	0.82065|0.82065	0.462000|0.462000	0.41574|0.41574	GAC|GGA	DHX37	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000150990		0.622	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		41	0.00	0	C	NM_032656		125448967	125448967	-1	no_errors	ENST00000308736	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	1.000	T
FAM174A	345757	genome.wustl.edu	37	5	99871633	99871633	+	Silent	SNP	C	C	G			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr5:99871633C>G	ENST00000312637.4	+	1	625	c.399C>G	c.(397-399)ggC>ggG	p.G133G	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	133						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGGTGAGCGGCGCGGTGCTGG	0.682																																						dbGAP											0													32.0	33.0	33.0					5																	99871633		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.399C>G	5.37:g.99871633C>G			A8K0H4	Silent	SNP	pfam_DUF1180	p.G133	ENST00000312637.4	37	c.399	CCDS4090.1	5																																																																																			FAM174A	-	pfam_DUF1180	ENSG00000174132		0.682	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	14	0.00	0	C	NM_198507		99871633	99871633	+1	no_errors	ENST00000312637	ensembl	human	known	69_37n	silent	9	57.14	12	SNP	1.000	G
GATA3	2625	genome.wustl.edu	37	10	8115711	8115711	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr10:8115711delC	ENST00000346208.3	+	6	1512	c.1057delC	c.(1057-1059)cccfs	p.P353fs	GATA3_ENST00000379328.3_Frame_Shift_Del_p.P354fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	353					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GATTAACAGACCCCTGACTAT	0.403			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													39.0	42.0	41.0					10																	8115711		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1057delC	10.37:g.8115711delC	ENSP00000341619:p.Pro353fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.L355fs	ENST00000346208.3	37	c.1060	CCDS7083.1	10																																																																																			GATA3	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.403	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	34	0.00	0	C	NM_001002295		8115711	8115711	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	26	32.50	13	DEL	1.000	-
IFT74	80173	genome.wustl.edu	37	9	26988692	26988692	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr9:26988692C>T	ENST00000443698.1	+	7	662	c.491C>T	c.(490-492)aCt>aTt	p.T164I	IFT74_ENST00000429045.2_Missense_Mutation_p.T164I|IFT74_ENST00000433700.1_Missense_Mutation_p.T164I|IFT74_ENST00000380062.5_Missense_Mutation_p.T164I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	164					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AATACCAACACTGAAATGGAA	0.244																																						dbGAP											0													30.0	32.0	31.0					9																	26988692		1782	4024	5806	-	-	-	SO:0001583	missense	0			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.491C>T	9.37:g.26988692C>T	ENSP00000404122:p.Thr164Ile		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	NULL	p.T164I	ENST00000443698.1	37	c.491	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017338	0.54576	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T	0.42131	1.43;1.43;1.43;1.43;1.43;0.98	5.66	4.75	0.60458	.	0.093617	0.64402	D	0.000001	T	0.37237	0.0996	L	0.45137	1.4	0.58432	D	0.999998	P;B	0.45986	0.87;0.443	B;B	0.42138	0.377;0.094	T	0.07501	-1.0769	10	0.31617	T	0.26	-7.8643	14.372	0.66846	0.0:0.9289:0.0:0.0711	.	164;164	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	I	164;164;164;164;164;164;126	ENSP00000430004:T164I;ENSP00000389224:T164I;ENSP00000404122:T164I;ENSP00000369402:T164I;ENSP00000393907:T164I;ENSP00000430742:T126I	ENSP00000369402:T164I	T	+	2	0	IFT74	26978692	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.461000	0.53035	2.830000	0.97506	0.585000	0.79938	ACT	IFT74	-	NULL	ENSG00000096872		0.244	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2	17	0.00	0	C	NM_025103		26988692	26988692	+1	no_errors	ENST00000380062	ensembl	human	known	69_37n	missense	24	42.86	18	SNP	1.000	T
IREB2	3658	genome.wustl.edu	37	15	78775776	78775776	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr15:78775776G>A	ENST00000258886.8	+	11	1562	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	471					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TAAATGAAAAGGTAGGTTACT	0.378																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													144.0	144.0	144.0					15																	78775776		2196	4293	6489	-	-	-	SO:0001630	splice_region_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1413+1G>A	15.37:g.78775776G>A			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.K471	ENST00000258886.8	37	c.1413	CCDS10302.1	15																																																																																			IREB2	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	87	0.00	0	G	NM_004136	Silent	78775776	78775776	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	silent	59	36.17	34	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124438238	124438238	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr3:124438238G>A	ENST00000291478.5	+	27	3954	c.3791G>A	c.(3790-3792)cGt>cAt	p.R1264H	KALRN_ENST00000428018.2_Missense_Mutation_p.R1232H|KALRN_ENST00000360013.3_Missense_Mutation_p.R2961H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2960					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCATAGAACGTCGCAAGCAC	0.552																																						dbGAP											0													58.0	60.0	60.0					3																	124438238		2195	4297	6492	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3791G>A	3.37:g.124438238G>A	ENSP00000291478:p.Arg1264His		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R2961H	ENST00000291478.5	37	c.8882	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.338831|4.338831	0.81911|0.81911	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.39787|.	1.06;1.06;1.06|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.61703|0.61703	1.905|1.905	0.43122|0.43122	D|D	0.994841|0.994841	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	T|T	0.71337|0.71337	-0.4623|-0.4623	10|5	0.87932|.	D|.	0|.	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1264;2960|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	H|I	2961;1264;1232|2930	ENSP00000353109:R2961H;ENSP00000291478:R1264H;ENSP00000402419:R1232H|.	ENSP00000291478:R1264H|.	R|V	+|+	2|1	0|0	KALRN|KALRN	125920928|125920928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	9.657000|9.657000	0.98554|0.98554	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CGT|GTC	KALRN	-	superfamily_Kinase-like_dom	ENSG00000160145		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	19	0.00	0	G	NM_003947		124438238	124438238	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	1.000	A
LGR6	59352	genome.wustl.edu	37	1	202249911	202249911	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr1:202249911A>T	ENST00000367278.3	+	6	736	c.647A>T	c.(646-648)cAt>cTt	p.H216L	LGR6_ENST00000255432.7_Missense_Mutation_p.H164L|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	216					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCGTGCAGGCATTTGCATAAC	0.562																																						dbGAP											0													140.0	121.0	128.0					1																	202249911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.647A>T	1.37:g.202249911A>T	ENSP00000356247:p.His216Leu		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.H216L	ENST00000367278.3	37	c.647	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551000	0.45383	.	.	ENSG00000133067	ENST00000367278;ENST00000255432	T;T	0.55930	0.49;0.49	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	N	0.12887	0.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.52358	-0.8586	10	0.25106	T	0.35	.	13.3053	0.60349	1.0:0.0:0.0:0.0	.	164;216	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	L	216;164	ENSP00000356247:H216L;ENSP00000255432:H164L	ENSP00000255432:H164L	H	+	2	0	LGR6	200516534	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	8.461000	0.90372	1.827000	0.53221	0.459000	0.35465	CAT	LGR6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.562	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	65	0.00	0	A	NM_021636		202249911	202249911	+1	no_errors	ENST00000367278	ensembl	human	known	69_37n	missense	65	68.75	143	SNP	1.000	T
LINS	55180	genome.wustl.edu	37	15	101115307	101115307	+	Silent	SNP	A	A	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr15:101115307A>T	ENST00000314742.8	-	4	738	c.516T>A	c.(514-516)gcT>gcA	p.A172A	LINS_ENST00000561308.1_Silent_p.A172A|LINS_ENST00000560133.1_Silent_p.A53A|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	172										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTGGCAAAAAGCAATCCAGG	0.289																																						dbGAP											0													45.0	44.0	44.0					15																	101115307		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.516T>A	15.37:g.101115307A>T			Q96FW2|Q9NVQ3	Silent	SNP	NULL	p.A172	ENST00000314742.8	37	c.516	CCDS10385.1	15																																																																																			LINS	-	NULL	ENSG00000140471		0.289	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	53	0.00	0	A	NM_018148		101115307	101115307	-1	no_errors	ENST00000314742	ensembl	human	known	69_37n	silent	33	41.07	23	SNP	0.601	T
KMT2C	58508	genome.wustl.edu	37	7	151843775	151843776	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr7:151843775_151843776delTT	ENST00000262189.6	-	53	14157_14158	c.13939_13940delAA	c.(13939-13941)aagfs	p.K4647fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K4704fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4647	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CATTTCAGACTTTTTTCTCACA	0.426											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13939_13940delAA	7.37:g.151843779_151843780delTT	ENSP00000262189:p.Lys4647fs	1743	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K4704fs	ENST00000262189.6	37	c.14111_14110	CCDS5931.1	7																																																																																			MLL3	-	pfam_FYrich_C,smart_FYrich_C	ENSG00000055609		0.426	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	41	0.00	0	TT			151843775	151843776	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	27	46.00	23	DEL	0.004:0.003	-
MPHOSPH8	54737	genome.wustl.edu	37	13	20237220	20237220	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr13:20237220C>T	ENST00000361479.5	+	9	2041	c.1973C>T	c.(1972-1974)gCt>gTt	p.A658V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A658V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	658					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAGCAGGAGCTTTTGTAAAT	0.388																																						dbGAP											0													129.0	134.0	132.0					13																	20237220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1973C>T	13.37:g.20237220C>T	ENSP00000355388:p.Ala658Val		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.A658V	ENST00000361479.5	37	c.1973	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451033	0.84209	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.76060	-0.99;-0.99	5.33	5.33	0.75918	Ankyrin repeat-containing domain (4);	0.053963	0.85682	D	0.000000	D	0.82779	0.5111	L	0.42487	1.325	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.77004	0.984;0.989	D	0.84437	0.0580	10	0.87932	D	0	.	19.0094	0.92867	0.0:1.0:0.0:0.0	.	658;658	Q99549;Q99549-2	MPP8_HUMAN;.	V	658	ENSP00000414663:A658V;ENSP00000355388:A658V	ENSP00000355388:A658V	A	+	2	0	MPHOSPH8	19135220	1.000000	0.71417	0.995000	0.50966	0.486000	0.33341	5.496000	0.66918	2.479000	0.83701	0.555000	0.69702	GCT	MPHOSPH8	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000196199		0.388	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	94	0.00	0	C	NM_017520		20237220	20237220	+1	no_errors	ENST00000414242	ensembl	human	known	69_37n	missense	55	15.94	11	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9085003	9085003	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr19:9085003G>A	ENST00000397910.4	-	1	7015	c.6812C>T	c.(6811-6813)aCt>aTt	p.T2271I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2271	Ser-rich.|Thr-rich.		T -> A (in dbSNP:rs11085805).		cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATGAATGAGTTGTCTTTTC	0.453																																						dbGAP											0													66.0	63.0	64.0					19																	9085003		1922	4131	6053	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6812C>T	19.37:g.9085003G>A	ENSP00000381008:p.Thr2271Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T2271I	ENST00000397910.4	37	c.6812	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.464	-0.887763	0.02511	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.24920	0.114	B	0.17098	0.017	T	0.36986	-0.9725	7	0.87932	D	0	.	.	.	.	.	2271	B5ME49	.	I	2271	ENSP00000381008:T2271I	ENSP00000381008:T2271I	T	-	2	0	MUC16	8946003	0.001000	0.12720	0.019000	0.16419	0.019000	0.09904	-0.235000	0.09016	0.300000	0.22699	0.305000	0.20034	ACT	MUC16	-	NULL	ENSG00000181143		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	51	0.00	0	G	NM_024690		9085003	9085003	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	44	32.31	21	SNP	0.026	A
NEK8	284086	genome.wustl.edu	37	17	27064381	27064381	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr17:27064381C>T	ENST00000268766.6	+	5	710	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TATCTCTGACCGGTACAGCCC	0.587																																					NSCLC(6;19 293 14866 25253 49845)	dbGAP											0													54.0	47.0	49.0					17																	27064381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.676C>T	17.37:g.27064381C>T	ENSP00000268766:p.Arg226Trp		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R226W	ENST00000268766.6	37	c.676	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	c	29.3	4.995506	0.93167	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.65549	-0.16;-0.16	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	P	0.56788	0.806	T	0.72737	-0.4203	10	0.66056	D	0.02	.	15.6391	0.76981	0.1375:0.8625:0.0:0.0	.	226	Q86SG6	NEK8_HUMAN	W	226	ENSP00000465859:R226W;ENSP00000268766:R226W	ENSP00000268766:R226W	R	+	1	2	NEK8	24088508	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.923000	0.56469	2.779000	0.95612	0.651000	0.88453	CGG	NEK8	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160602		0.587	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	42	0.00	0	C			27064381	27064381	+1	no_errors	ENST00000268766	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	T
NOVA1	4857	genome.wustl.edu	37	14	26939694	26939694	+	Silent	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr14:26939694C>T	ENST00000344429.5	-	5	525	c.522G>A	c.(520-522)aaG>aaA	p.K174K	NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000267422.7_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AGATATTATGCTTCTTTGTAC	0.259																																						dbGAP											0													77.0	80.0	79.0					14																	26939694		2195	4281	6476	-	-	-	SO:0001819	synonymous_variant	0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.522G>A	14.37:g.26939694C>T			A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.K174	ENST00000344429.5	37	c.522	CCDS9635.1	14																																																																																			NOVA1	-	NULL	ENSG00000139910		0.259	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	137	0.00	0	C	NM_006491		26939694	26939694	-1	no_errors	ENST00000344429	ensembl	human	known	69_37n	silent	139	23.63	43	SNP	0.001	T
OR8S1	341568	genome.wustl.edu	37	12	48919779	48919779	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr12:48919779G>A	ENST00000310194.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCCTATGACCGCCATGCTGCC	0.537																																						dbGAP											0													124.0	114.0	117.0					12																	48919779		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.365G>A	12.37:g.48919779G>A	ENSP00000310632:p.Arg122His			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R122H	ENST00000310194.1	37	c.365	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310648	0.40895	.	.	ENSG00000197376	ENST00000310194	T	0.77489	-1.1	5.03	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.176576	0.27773	N	0.017916	T	0.81588	0.4854	M	0.91249	3.19	0.27265	N	0.958534	B	0.26147	0.143	B	0.27608	0.081	T	0.74520	-0.3638	10	0.62326	D	0.03	-76.3172	12.2384	0.54528	0.1585:0.0:0.8415:0.0	.	122	Q8NH09	OR8S1_HUMAN	H	122	ENSP00000310632:R122H	ENSP00000310632:R122H	R	+	2	0	OR8S1	47206046	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	4.945000	0.63568	0.315000	0.23110	-0.797000	0.03246	CGC	OR8S1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197376		0.537	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	91	0.00	0	G			48919779	48919779	+1	no_errors	ENST00000310194	ensembl	human	known	69_37n	missense	94	25.98	33	SNP	1.000	A
PLK2	10769	genome.wustl.edu	37	5	57750566	57750568	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr5:57750566_57750568delGAT	ENST00000274289.3	-	14	2200_2202	c.1900_1902delATC	c.(1900-1902)atcdel	p.I634del	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	634	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TTTGGCTACAGATGATGATTTTT	0.345																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1900_1902delATC	5.37:g.57750572_57750574delGAT	ENSP00000274289:p.Ile634del		O60679|Q96CV7|Q9UE61	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.I634in_frame_del	ENST00000274289.3	37	c.1902_1900	CCDS3974.1	5																																																																																			PLK2	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000145632		0.345	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	91	0.00	0	GAT	NM_006622		57750566	57750568	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	in_frame_del	150	17.03	31	DEL	1.000:1.000:1.000	-
PCDHGB7	56099	genome.wustl.edu	37	5	140798223	140798223	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr5:140798223C>A	ENST00000398594.2	+	1	797	c.797C>A	c.(796-798)gCc>gAc	p.A266D	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	266	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGAAGGCCACTGACCAG	0.532																																						dbGAP											0													60.0	62.0	61.0					5																	140798223		2052	4193	6245	-	-	-	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.797C>A	5.37:g.140798223C>A	ENSP00000381594:p.Ala266Asp		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A266D	ENST00000398594.2	37	c.797	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	c	22.4	4.280313	0.80692	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.7	4.83	0.62350	Cadherin (5);Cadherin-like (1);	0.000000	0.32703	U	0.005756	D	0.88009	0.6322	H	0.99573	4.635	0.41325	D	0.987207	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92641	0.6124	10	0.87932	D	0	.	14.7688	0.69659	0.0:0.9288:0.0:0.0712	.	266;266	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	D	266	ENSP00000381594:A266D	ENSP00000381594:A266D	A	+	2	0	PCDHGB7	140778407	1.000000	0.71417	0.886000	0.34754	0.930000	0.56654	6.045000	0.71020	2.711000	0.92665	0.561000	0.74099	GCC	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000254122		0.532	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	29	0.00	0	C	NM_018927		140798223	140798223	+1	no_errors	ENST00000398594	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	A
POU3F4	5456	genome.wustl.edu	37	X	82764246	82764246	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chrX:82764246C>T	ENST00000373200.2	+	1	978	c.914C>T	c.(913-915)gCg>gTg	p.A305V	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	305					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A305V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AAGCCTGCCGCGCAGGAGATC	0.562																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											36.0	27.0	30.0					X																	82764246		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.914C>T	X.37:g.82764246C>T	ENSP00000362296:p.Ala305Val		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.A305V	ENST00000373200.2	37	c.914	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622088	0.87460	.	.	ENSG00000196767	ENST00000373200	D	0.96365	-3.99	5.07	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98093	1.0410	10	0.87932	D	0	.	17.4614	0.87620	0.0:1.0:0.0:0.0	.	305	P49335	PO3F4_HUMAN	V	305	ENSP00000362296:A305V	ENSP00000362296:A305V	A	+	2	0	POU3F4	82650902	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	7.579000	0.82511	2.244000	0.73946	0.525000	0.51046	GCG	POU3F4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain	ENSG00000196767		0.562	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	27	0.00	0	C	NM_000307		82764246	82764246	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	T
PSMD5	5711	genome.wustl.edu	37	9	123593673	123593673	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr9:123593673T>C	ENST00000210313.3	-	4	571	c.497A>G	c.(496-498)aAt>aGt	p.N166S	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ATCCAGCAGATTGCTTTCAAA	0.358																																						dbGAP											0													177.0	162.0	167.0					9																	123593673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.497A>G	9.37:g.123593673T>C	ENSP00000210313:p.Asn166Ser		B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold	p.N166S	ENST00000210313.3	37	c.497	CCDS6824.1	9	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002117	0.35320	.	.	ENSG00000095261	ENST00000210313	T	0.32515	1.45	5.68	3.3	0.37823	Armadillo-like helical (1);Armadillo-type fold (1);	0.227315	0.52532	N	0.000080	T	0.14356	0.0347	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.09662	-1.0664	10	0.05620	T	0.96	.	8.1567	0.31173	0.0:0.241:0.0:0.759	.	166	Q16401	PSMD5_HUMAN	S	166	ENSP00000210313:N166S	ENSP00000210313:N166S	N	-	2	0	PSMD5	122633494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.209000	0.42806	1.074000	0.40909	0.528000	0.53228	AAT	PSMD5	-	pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold	ENSG00000095261		0.358	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	74	0.00	0	T	NM_005047		123593673	123593673	-1	no_errors	ENST00000210313	ensembl	human	known	69_37n	missense	112	32.93	55	SNP	1.000	C
RNF148	378925	genome.wustl.edu	37	7	122342439	122342439	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr7:122342439C>A	ENST00000434824.1	-	1	582	c.366G>T	c.(364-366)aaG>aaT	p.K122N	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	122	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CATTTGCTCCCTTCTCTGCTG	0.483																																						dbGAP											0													250.0	246.0	247.0					7																	122342439		2026	4180	6206	-	-	-	SO:0001583	missense	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.366G>T	7.37:g.122342439C>A	ENSP00000388207:p.Lys122Asn		A4D0X4|Q8N308	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K122N	ENST00000434824.1	37	c.366	CCDS47692.1	7	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151643	0.21371	.	.	ENSG00000235631	ENST00000434824	T	0.07688	3.17	4.95	1.96	0.26148	Protease-associated domain, PA (1);	.	.	.	.	T	0.05868	0.0153	L	0.32530	0.975	0.80722	D	1	B	0.24576	0.106	B	0.29440	0.102	T	0.36089	-0.9762	9	0.30854	T	0.27	.	2.4209	0.04447	0.1322:0.5058:0.1287:0.2333	.	122	Q8N7C7	RN148_HUMAN	N	122	ENSP00000388207:K122N	ENSP00000388207:K122N	K	-	3	2	RNF148	122129675	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	-0.529000	0.06186	0.609000	0.30018	-0.263000	0.10527	AAG	RNF148	-	pfam_Protease-assoc_domain	ENSG00000235631		0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	56	0.00	0	C	NM_198085		122342439	122342439	-1	no_errors	ENST00000434824	ensembl	human	known	69_37n	missense	50	39.02	32	SNP	0.997	A
RYR2	6262	genome.wustl.edu	37	1	237608772	237608772	+	Silent	SNP	C	C	G			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr1:237608772C>G	ENST00000366574.2	+	14	1559	c.1242C>G	c.(1240-1242)cgC>cgG	p.R414R	RYR2_ENST00000542537.1_Silent_p.R398R|RYR2_ENST00000360064.6_Silent_p.R412R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	414			R -> L (in CPVT1). {ECO:0000269|PubMed:15466642}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAATCACGCACAGCCCGAG	0.393																																						dbGAP											0													152.0	147.0	149.0					1																	237608772		1924	4139	6063	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1242C>G	1.37:g.237608772C>G			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R412	ENST00000366574.2	37	c.1236	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	113	0.00	0	C	NM_001035		237608772	237608772	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	221	14.01	36	SNP	0.566	G
TFF2	7032	genome.wustl.edu	37	21	43767728	43767728	+	Silent	SNP	G	G	A			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr21:43767728G>A	ENST00000291526.4	-	3	413	c.243C>T	c.(241-243)tgC>tgT	p.C81C	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	81	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						CCTCCATGACGCACTGATCCG	0.602																																						dbGAP											0													74.0	62.0	66.0					21																	43767728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.243C>T	21.37:g.43767728G>A			Q15854	Silent	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.C81	ENST00000291526.4	37	c.243	CCDS13684.1	21																																																																																			TFF2	-	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil	ENSG00000160181		0.602	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF2	HGNC	protein_coding	OTTHUMT00000195355.1	31	0.00	0	G	NM_005423		43767728	43767728	-1	no_errors	ENST00000291526	ensembl	human	known	69_37n	silent	19	38.71	12	SNP	0.632	A
TPP2	7174	genome.wustl.edu	37	13	103301465	103301465	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr13:103301465A>C	ENST00000376065.4	+	22	2873	c.2837A>C	c.(2836-2838)aAc>aCc	p.N946T	TPP2_ENST00000376052.3_Missense_Mutation_p.N946T	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	946					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAAATATAACCAGCCATTC	0.343																																						dbGAP											0													137.0	133.0	134.0					13																	103301465		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2837A>C	13.37:g.103301465A>C	ENSP00000365233:p.Asn946Thr		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.N946T	ENST00000376065.4	37	c.2837	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	A	3.871	-0.027904	0.07589	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.76	4.63	0.57726	Peptidase S8A, tripeptidyl peptidase II (1);	0.191997	0.53938	D	0.000049	T	0.09774	0.0240	N	0.00661	-1.28	0.38063	D	0.936136	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	9	0.02654	T	1	.	3.3318	0.07087	0.6684:0.0:0.3316:0.0	.	946	P29144	TPP2_HUMAN	T	946	.	ENSP00000365220:N946T	N	+	2	0	TPP2	102099466	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.181000	0.58303	2.197000	0.70478	0.482000	0.46254	AAC	TPP2	-	pfam_Peptidase_S8A_TPPII	ENSG00000134900		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	34	0.00	0	A			103301465	103301465	+1	no_errors	ENST00000376065	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.998	C
TRPM4	54795	genome.wustl.edu	37	19	49700060	49700061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr19:49700060_49700061insT	ENST00000252826.5	+	17	2700_2701	c.2574_2575insT	c.(2575-2577)tacfs	p.Y859fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Ins_p.Y505fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	859					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTGCGCCTCTACCTCGCCGA	0.728																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2575dupT	19.37:g.49700061_49700061dupT	ENSP00000252826:p.Tyr859fs		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Ins	INS	pfam_Ion_trans_dom	p.Y858fs	ENST00000252826.5	37	c.2574_2575	CCDS33073.1	19																																																																																			TRPM4	-	pfam_Ion_trans_dom	ENSG00000130529		0.728	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	16	0.00	0	-	NM_017636		49700060	49700061	+1	no_errors	ENST00000252826	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.967:1.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67578573	67578573	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr8:67578573A>C	ENST00000310421.4	-	1	879	c.621T>G	c.(619-621)tgT>tgG	p.C207W	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	207					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGGAATGAGACATTCCTGGC	0.532																																					NSCLC(179;265 2915 6144 43644)	dbGAP											0													100.0	99.0	99.0					8																	67578573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.621T>G	8.37:g.67578573A>C	ENSP00000309031:p.Cys207Trp		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.C207W	ENST00000310421.4	37	c.621	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339688	0.41398	.	.	ENSG00000175073	ENST00000310421	T	0.32023	1.47	6.16	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.22452	-1.0216	10	0.72032	D	0.01	-6.4108	10.4096	0.44285	0.2749:0.0:0.7251:0.0	.	207	Q96JH7	VCIP1_HUMAN	W	207	ENSP00000309031:C207W	ENSP00000309031:C207W	C	-	3	2	VCPIP1	67741127	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.181000	0.42547	0.056000	0.16144	-0.417000	0.06048	TGT	VCPIP1	-	NULL	ENSG00000175073		0.532	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	34	0.00	0	A			67578573	67578573	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	1.000	C
WBSCR17	64409	genome.wustl.edu	37	7	71142235	71142235	+	Missense_Mutation	SNP	G	G	A	rs546847548		TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr7:71142235G>A	ENST00000333538.5	+	9	2078	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	482	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTGGACCAGGGGCCGCTGGA	0.532																																						dbGAP											0													231.0	229.0	229.0					7																	71142235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1444G>A	7.37:g.71142235G>A	ENSP00000329654:p.Gly482Arg		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G482R	ENST00000333538.5	37	c.1444	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048935	0.93740	.	.	ENSG00000185274	ENST00000333538	T	0.26373	1.74	5.2	5.2	0.72013	Ricin B-related lectin (1);Ricin B lectin (3);	0.114545	0.64402	D	0.000013	T	0.58163	0.2103	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63839	-0.6546	10	0.59425	D	0.04	.	17.9178	0.88957	0.0:0.0:1.0:0.0	.	482	Q6IS24	GLTL3_HUMAN	R	482	ENSP00000329654:G482R	ENSP00000329654:G482R	G	+	1	0	WBSCR17	70780171	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.109000	0.94291	2.692000	0.91855	0.650000	0.86243	GGG	WBSCR17	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000185274		0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	61	0.00	0	G	NM_022479		71142235	71142235	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	missense	46	45.24	38	SNP	1.000	A
ZNF208	7757	genome.wustl.edu	37	19	22156855	22156855	+	Silent	SNP	G	G	A	rs200969060	byFrequency	TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr19:22156855G>A	ENST00000397126.4	-	4	1129	c.981C>T	c.(979-981)acC>acT	p.T327T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGTAATAAGGGTTGAGACCT	0.398													g|||	404	0.0806709	0.0756	0.0836	5008	,	,		15360	0.0764		0.0666	False		,,,				2504	0.1043					dbGAP											0													65.0	67.0	66.0					19																	22156855		1945	3921	5866	-	-	-	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.981C>T	19.37:g.22156855G>A				Silent	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.T327	ENST00000397126.4	37	c.981	CCDS54240.1	19																																																																																			ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	42	0.00	0	G	NM_007153		22156855	22156855	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	0.000	A
ZNF609	23060	genome.wustl.edu	37	15	64915230	64915230	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JT-01A-31D-A13L-09	TCGA-D8-A1JT-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3be3972f-4125-44c3-94d6-0ddba2008fcf	6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb	g.chr15:64915230G>C	ENST00000326648.3	+	2	1080	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	318						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAGGCATCGTGTGGCAGGA	0.532																																						dbGAP											0													150.0	101.0	118.0					15																	64915230		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.952G>C	15.37:g.64915230G>C	ENSP00000316527:p.Val318Leu		Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V318L	ENST00000326648.3	37	c.952	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.310111	0.95629	.	.	ENSG00000180357	ENST00000326648	T	0.65364	-0.15	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.76328	2.33	0.80722	D	1	D	0.56521	0.976	D	0.65443	0.935	T	0.80919	-0.1167	10	0.72032	D	0.01	-22.328	19.6397	0.95753	0.0:0.0:1.0:0.0	.	318	O15014	ZN609_HUMAN	L	318	ENSP00000316527:V318L	ENSP00000316527:V318L	V	+	1	0	ZNF609	62702283	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.632000	0.89209	0.655000	0.94253	GTG	ZNF609	-	NULL	ENSG00000180357		0.532	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	47	0.00	0	G	XM_042833		64915230	64915230	+1	no_errors	ENST00000326648	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	C
