#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
ANKH	56172	genome.wustl.edu	37	5	14716838	14716838	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr5:14716838A>T	ENST00000284268.6	-	9	1448	c.1118T>A	c.(1117-1119)aTc>aAc	p.I373N	ANKH_ENST00000535119.1_Missense_Mutation_p.I175N	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	373					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAAGGAGAAGATCCGCAAAGG	0.408																																						dbGAP											0													97.0	92.0	94.0					5																	14716838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1118T>A	5.37:g.14716838A>T	ENSP00000284268:p.Ile373Asn		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.I373N	ENST00000284268.6	37	c.1118	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843770	0.91197	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.97279	-3.82;-4.32	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.45037	0.467	D	0.95396	0.8486	10	0.87932	D	0	-40.1018	15.3511	0.74389	1.0:0.0:0.0:0.0	.	373	Q9HCJ1	ANKH_HUMAN	N	175;373	ENSP00000442524:I175N;ENSP00000284268:I373N	ENSP00000284268:I373N	I	-	2	0	ANKH	14769838	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.336000	0.96533	2.217000	0.71921	0.533000	0.62120	ATC	ANKH	-	NULL	ENSG00000154122		0.408	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	80	0.00	0	A	NM_054027		14716838	14716838	-1	no_errors	ENST00000284268	ensembl	human	known	69_37n	missense	82	16.00	16	SNP	1.000	T
ATAD5	79915	genome.wustl.edu	37	17	29220890	29220890	+	Silent	SNP	T	T	C			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr17:29220890T>C	ENST00000321990.4	+	21	5397	c.5019T>C	c.(5017-5019)ggT>ggC	p.G1673G		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1673					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACAAATACGGTAGAAATGACT	0.373																																						dbGAP											0													193.0	196.0	195.0					17																	29220890		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5019T>C	17.37:g.29220890T>C			Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G1673	ENST00000321990.4	37	c.5019	CCDS11260.1	17																																																																																			ATAD5	-	NULL	ENSG00000176208		0.373	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	292	0.00	0	T	NM_024857		29220890	29220890	+1	no_errors	ENST00000321990	ensembl	human	known	69_37n	silent	187	18.34	42	SNP	1.000	C
C2CD4C	126567	genome.wustl.edu	37	19	408200	408200	+	Silent	SNP	G	G	C	rs7252178	byFrequency	TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr19:408200G>C	ENST00000332235.6	-	2	335	c.162C>G	c.(160-162)ccC>ccG	p.P54P		NM_001136263.1	NP_001129735.1	Q8TF44	C2C4C_HUMAN	C2 calcium-dependent domain containing 4C	54										large_intestine(1)|pancreas(1)	2						AGGGCAGCTTGGGGGGGATGA	0.716													g|||	158	0.0315495	0.1165	0.0058	5008	,	,		10623	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													19.0	24.0	23.0					19																	408200		692	1589	2281	-	-	-	SO:0001819	synonymous_variant	0			AB075837	CCDS45890.1	19p13.3	2009-09-28	2009-09-28	2009-09-28		ENSG00000183186			29417	protein-coding gene	gene with protein product	"""nuclear localized factor 3"""	610336	"""KIAA1957"", ""family with sequence similarity 148, member C"""	KIAA1957, FAM148C		11853319	Standard	NM_001136263		Approved	NLF3	uc002loo.3	Q8TF44		ENST00000332235.6:c.162C>G	19.37:g.408200G>C			Q8N3H7	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P54	ENST00000332235.6	37	c.162	CCDS45890.1	19																																																																																			C2CD4C	-	NULL	ENSG00000183186		0.716	C2CD4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD4C	HGNC	protein_coding	OTTHUMT00000451789.2	10	0.00	0	G	XM_065166		408200	408200	-1	no_errors	ENST00000332235	ensembl	human	known	69_37n	silent	31	31.91	15	SNP	0.916	C
CAPN11	11131	genome.wustl.edu	37	6	44150736	44150736	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr6:44150736G>T	ENST00000398776.1	+	20	2035	c.1997G>T	c.(1996-1998)cGc>cTc	p.R666L	CAPN11_ENST00000542245.1_Missense_Mutation_p.R666L	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	666	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATGAGATGCGCCTGGTTATT	0.557																																						dbGAP											0													65.0	63.0	64.0					6																	44150736		1980	4158	6138	-	-	-	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1997G>T	6.37:g.44150736G>T	ENSP00000381758:p.Arg666Leu		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R666L	ENST00000398776.1	37	c.1997	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810990	0.70797	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.33865	1.39;1.39	5.65	4.75	0.60458	EF-hand-like domain (1);	0.166682	0.29884	N	0.010959	T	0.31796	0.0808	M	0.88241	2.94	0.35724	D	0.817377	P	0.41910	0.764	B	0.32533	0.147	T	0.55134	-0.8188	10	0.87932	D	0	.	15.0518	0.71877	0.0:0.0:0.8576:0.1424	.	666	Q9UMQ6	CAN11_HUMAN	L	666	ENSP00000381758:R666L;ENSP00000441078:R666L	ENSP00000381758:R666L	R	+	2	0	CAPN11	44258714	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	4.688000	0.61715	2.658000	0.90341	0.643000	0.83706	CGC	CAPN11	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000137225		0.557	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	47	0.00	0	G			44150736	44150736	+1	no_errors	ENST00000398776	ensembl	human	known	69_37n	missense	120	15.97	23	SNP	0.995	T
CCR2	729230	genome.wustl.edu	37	3	46399915	46399915	+	Silent	SNP	C	C	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr3:46399915C>T	ENST00000400888.2	+	1	936	c.897C>T	c.(895-897)tgC>tgT	p.C299C	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.C299C|CCR2_ENST00000292301.4_Silent_p.C299C			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	299					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTCACTGCTGCATCAATCCCA	0.502																																						dbGAP											0													177.0	158.0	163.0					3																	46399915		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.897C>T	3.37:g.46399915C>T			A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2	p.C299	ENST00000400888.2	37	c.897	CCDS43078.1	3																																																																																			CCR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000121807		0.502	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	82	0.00	0	C	NM_000647		46399915	46399915	+1	no_errors	ENST00000292301	ensembl	human	known	69_37n	silent	93	27.34	35	SNP	1.000	T
CD1D	912	genome.wustl.edu	37	1	158150918	158150918	+	Silent	SNP	C	C	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr1:158150918C>T	ENST00000368171.3	+	2	526	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	9					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCTGCTGCTCTGGGCGCTCC	0.711																																						dbGAP											0													19.0	21.0	20.0					1																	158150918		2082	4084	6166	-	-	-	SO:0001819	synonymous_variant	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.27C>T	1.37:g.158150918C>T			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L9	ENST00000368171.3	37	c.27	CCDS1173.1	1																																																																																			CD1D	-	NULL	ENSG00000158473		0.711	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	8	0.00	0	C	NM_001766		158150918	158150918	+1	no_errors	ENST00000368171	ensembl	human	known	69_37n	silent	42	25.00	14	SNP	0.003	T
CHAF1A	10036	genome.wustl.edu	37	19	4428843	4428843	+	Silent	SNP	C	C	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr19:4428843C>T	ENST00000301280.5	+	8	1661	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	520					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGAGGTCCGGACCCACGC	0.592								Chromatin Structure																														dbGAP											0													35.0	39.0	38.0					19																	4428843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1560C>T	19.37:g.4428843C>T			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.S520	ENST00000301280.5	37	c.1560	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	18	0.00	0	C	NM_005483		4428843	4428843	+1	no_errors	ENST00000301280	ensembl	human	known	69_37n	silent	23	36.11	13	SNP	0.103	T
EEF1A1	1915	genome.wustl.edu	37	6	74228163	74228163	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr6:74228163C>G	ENST00000316292.9	-	5	1934	c.943G>C	c.(943-945)Gtg>Ctg	p.V315L	EEF1A1_ENST00000309268.6_Missense_Mutation_p.V315L|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V315L|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	315					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTGACAGACACATTCTTGACA	0.463											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													42.0	41.0	42.0					6																	74228163		2152	4246	6398	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.943G>C	6.37:g.74228163C>G	ENSP00000339063:p.Val315Leu	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.V315L	ENST00000316292.9	37	c.943	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529376	0.64860	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.63417	-0.04;-0.04;-0.04	4.71	4.71	0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);	0.076612	0.52532	U	0.000079	T	0.47210	0.1433	L	0.42008	1.315	0.80722	D	1	B;B;B;B	0.26876	0.162;0.162;0.162;0.162	B;B;B;B	0.28991	0.097;0.097;0.097;0.097	T	0.55976	-0.8055	10	0.87932	D	0	.	18.0919	0.89478	0.0:1.0:0.0:0.0	.	315;315;315;315	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	L	315;313;315;315;294	ENSP00000339063:V315L;ENSP00000339053:V315L;ENSP00000330054:V315L	ENSP00000339053:V315L	V	-	1	0	EEF1A1	74284884	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.441000	0.80485	2.323000	0.78572	0.556000	0.70494	GTG	EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.463	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	39	0.00	0	C	NM_001402		74228163	74228163	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	1.000	G
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	28	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	68	10.53	8	INS	0.033:0.036	GCA
FAM91A1	157769	genome.wustl.edu	37	8	124796718	124796718	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr8:124796718C>T	ENST00000334705.7	+	9	958	c.712C>T	c.(712-714)Ctt>Ttt	p.L238F	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L238F	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	238										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGTTCCACCTCTTGAAGGTTT	0.299																																						dbGAP											0													84.0	76.0	78.0					8																	124796718		1798	4065	5863	-	-	-	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.712C>T	8.37:g.124796718C>T	ENSP00000335082:p.Leu238Phe		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.L238F	ENST00000334705.7	37	c.712	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	32	5.111148	0.94339	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.73897	-0.79;-0.26	5.68	5.68	0.88126	.	0.000000	0.64402	U	0.000001	D	0.89181	0.6642	M	0.88241	2.94	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.90020	0.4127	10	0.72032	D	0.01	.	20.2211	0.98325	0.0:1.0:0.0:0.0	.	238;238	E7ER68;Q658Y4	.;F91A1_HUMAN	F	238	ENSP00000429491:L238F;ENSP00000335082:L238F	ENSP00000335082:L238F	L	+	1	0	FAM91A1	124865899	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.947000	0.70242	2.853000	0.98044	0.644000	0.83932	CTT	FAM91A1	-	NULL	ENSG00000176853		0.299	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	298	0.00	0	C	NM_144963		124796718	124796718	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	missense	83	35.16	45	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40392719	40392719	+	Silent	SNP	G	G	A	rs200664901	byFrequency	TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr19:40392719G>A	ENST00000221347.6	-	16	7792	c.7785C>T	c.(7783-7785)aaC>aaT	p.N2595N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2595	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGTCGCCGTTGTAGTTCC	0.597													G|||	1198	0.239217	0.0772	0.4006	5008	,	,		22950	0.2073		0.3529	False		,,,				2504	0.2597					dbGAP											0													7.0	8.0	8.0					19																	40392719		2060	4141	6201	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7785C>T	19.37:g.40392719G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.N2595	ENST00000221347.6	37	c.7785	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	8	0.00	0	G	NM_003890		40392719	40392719	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	40	32.20	19	SNP	0.999	A
FSTL5	56884	genome.wustl.edu	37	4	162577518	162577518	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr4:162577518T>C	ENST00000306100.5	-	7	1292	c.856A>G	c.(856-858)Aat>Gat	p.N286D	FSTL5_ENST00000536695.1_Missense_Mutation_p.N285D|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.N285D|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	286	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAATAATATTGTTCCTTTTC	0.348																																						dbGAP											0													57.0	58.0	58.0					4																	162577518		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.856A>G	4.37:g.162577518T>C	ENSP00000305334:p.Asn286Asp		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.N286D	ENST00000306100.5	37	c.856	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	13.85	2.361625	0.41801	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.38	4.13	0.48395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201770	0.52532	D	0.000073	T	0.55847	0.1946	N	0.11313	0.125	0.40514	D	0.98076	B;B;B	0.27910	0.193;0.018;0.109	B;B;B	0.24701	0.055;0.007;0.049	T	0.56583	-0.7955	10	0.39692	T	0.17	.	6.9527	0.24554	0.0:0.0783:0.1505:0.7712	.	285;285;286	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	D	286;285;285;285	ENSP00000305334:N286D;ENSP00000368462:N285D;ENSP00000389270:N285D;ENSP00000440409:N285D	ENSP00000305334:N286D	N	-	1	0	FSTL5	162796968	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	2.324000	0.43831	2.164000	0.68074	0.528000	0.53228	AAT	FSTL5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000168843		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	174	0.00	0	T	NM_020116		162577518	162577518	-1	no_errors	ENST00000306100	ensembl	human	known	69_37n	missense	77	21.43	21	SNP	0.978	C
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						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)	p.?(7)		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						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_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.922-1CA>-	10.37:g.8111433_8111434delCA			Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	42	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	88	18.52	20	DEL	1.000:1.000	-
IKBKE	9641	genome.wustl.edu	37	1	206648210	206648210	+	Silent	SNP	C	C	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr1:206648210C>T	ENST00000367120.3	+	5	604	c.231C>T	c.(229-231)ggC>ggT	p.G77G	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.G77G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ACCCATAGGGCGGAAGCCGGC	0.622																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											87.0	76.0	80.0					1																	206648210		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.231C>T	1.37:g.206648210C>T			D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G77	ENST00000367120.3	37	c.231	CCDS30996.1	1																																																																																			IKBKE	-	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	ENSG00000143466		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	26	0.00	0	C			206648210	206648210	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	silent	118	22.73	35	SNP	0.995	T
KCTD10	83892	genome.wustl.edu	37	12	109895450	109895450	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr12:109895450T>G	ENST00000228495.6	-	5	793	c.512A>C	c.(511-513)aAa>aCa	p.K171T	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.K168T|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	171					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATATGAGTATTTGTTGTTACT	0.463																																						dbGAP											0													213.0	197.0	202.0					12																	109895450		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.512A>C	12.37:g.109895450T>G	ENSP00000228495:p.Lys171Thr		Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.K171T	ENST00000228495.6	37	c.512	CCDS9128.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.185675|4.185675	0.78789|0.78789	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858|ENST00000538161	T;T;T;T|.	0.51071|.	0.72;0.78;0.76;0.72|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77505|0.77505	0.4140|0.4140	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.80764|.	0.994;0.987;0.986|.	T|T	0.80507|0.80507	-0.1352|-0.1352	10|5	0.72032|.	D|.	0.01|.	-19.7702|-19.7702	13.5803|13.5803	0.61898|0.61898	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168;171;171|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	T|H	171;168;142;161|137	ENSP00000228495:K171T;ENSP00000441672:K168T;ENSP00000437348:K142T;ENSP00000445129:K161T|.	ENSP00000228495:K171T|.	K|N	-|-	2|1	0|0	KCTD10|KCTD10	108379833|108379833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.868000|7.868000	0.87116|0.87116	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	AAA|AAT	KCTD10	-	NULL	ENSG00000110906		0.463	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	291	0.34	1	T	NM_031954		109895450	109895450	-1	no_errors	ENST00000228495	ensembl	human	known	69_37n	missense	353	25.05	118	SNP	1.000	G
MCM4	4173	genome.wustl.edu	37	8	48882407	48882407	+	Silent	SNP	G	G	A			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr8:48882407G>A	ENST00000262105.2	+	10	1433	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	MCM4_ENST00000523944.1_Silent_p.V408V|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	408					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGAGTAATGTGAAGTCTGTCT	0.438																																						dbGAP											0													142.0	124.0	130.0					8																	48882407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1224G>A	8.37:g.48882407G>A			Q8NEH1|Q99658	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.V408	ENST00000262105.2	37	c.1224	CCDS6143.1	8																																																																																			MCM4	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.438	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	74	0.00	0	G	NM_005914		48882407	48882407	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	silent	152	15.00	27	SNP	0.995	A
OR51V1	283111	genome.wustl.edu	37	11	5221911	5221911	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr11:5221911A>G	ENST00000321255.1	-	1	19	c.20T>C	c.(19-21)aTg>aCg	p.M7T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	7					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGTAATCATTCTGGAACT	0.388																																						dbGAP											0													74.0	73.0	74.0					11																	5221911		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.20T>C	11.37:g.5221911A>G	ENSP00000321729:p.Met7Thr			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M7T	ENST00000321255.1	37	c.20	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	A	0.736	-0.778283	0.02929	.	.	ENSG00000176742	ENST00000321255	T	0.00561	6.59	3.71	-0.00397	0.14023	.	.	.	.	.	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	9	0.18710	T	0.47	.	2.9479	0.05852	0.4483:0.0:0.3494:0.2023	.	7	Q9H2C8	O51V1_HUMAN	T	7	ENSP00000321729:M7T	ENSP00000321729:M7T	M	-	2	0	OR51V1	5178487	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.303000	0.19210	-0.180000	0.10637	0.528000	0.53228	ATG	OR51V1	-	NULL	ENSG00000176742		0.388	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	55	0.00	0	A	NM_001004760		5221911	5221911	-1	no_errors	ENST00000321255	ensembl	human	known	69_37n	missense	59	23.38	18	SNP	0.000	G
PDE9A	5152	genome.wustl.edu	37	21	44106372	44106372	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr21:44106372G>A	ENST00000291539.6	+	2	200	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000328862.6_Splice_Site_p.R47H|PDE9A_ENST00000380328.2_Splice_Site_p.R47Q|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398236.3_Splice_Site_p.R47H|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000539837.1_Splice_Site_p.R12Q|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Splice_Site_p.R47Q|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398232.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	47					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GGCCTGCCTCGGTGAGTGCGC	0.662																																						dbGAP											0													69.0	60.0	63.0					21																	44106372		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.140+1G>A	21.37:g.44106372G>A			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R47Q	ENST00000291539.6	37	c.140	CCDS13690.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.69|17.69	3.451487|3.451487	0.63290|0.63290	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000398236;ENST00000328862|ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328	T;T|T;T;T;T	0.74421|0.75938	-0.8;-0.84|-0.45;-0.98;-0.68;-0.62	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.110203|0.110203	0.64402|0.64402	D|D	0.000013|0.000013	T|T	0.80121|0.80121	0.4565|0.4565	L|L	0.52573|0.52573	1.65|1.65	0.35333|0.35333	D|D	0.785799|0.785799	B;D|D;D;D	0.62365|0.89917	0.044;0.991|0.992;0.994;1.0	B;P|P;P;D	0.59643|0.64776	0.018;0.861|0.789;0.789;0.929	T|T	0.81684|0.81684	-0.0821|-0.0821	10|10	0.72032|0.27082	D|T	0.01|0.32	.|.	13.9807|13.9807	0.64304|0.64304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	47;47|47;47;47	O76083-8;O76083-15|O76083-2;O76083-5;O76083	.;.|.;.;PDE9A_HUMAN	H|Q	47|47;12;47;47	ENSP00000381291:R47H;ENSP00000328699:R47H|ENSP00000335242:R47Q;ENSP00000441899:R12Q;ENSP00000291539:R47Q;ENSP00000369685:R47Q	ENSP00000328699:R47H|ENSP00000291539:R47Q	R|R	+|+	2|2	0|0	PDE9A|PDE9A	42979441|42979441	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.251000|0.251000	0.25915|0.25915	4.967000|4.967000	0.63722|0.63722	2.419000|2.419000	0.82065|0.82065	0.655000|0.655000	0.94253|0.94253	CGC|CGG	PDE9A	-	NULL	ENSG00000160191		0.662	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	9	0.00	0	G		Missense_Mutation	44106372	44106372	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	missense	53	28.38	21	SNP	1.000	A
RABEPK	10244	genome.wustl.edu	37	9	127994885	127994885	+	Silent	SNP	A	A	G			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr9:127994885A>G	ENST00000373538.3	+	7	997	c.687A>G	c.(685-687)aaA>aaG	p.K229K	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.K178K|RABEPK_ENST00000394125.4_Silent_p.K229K	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	229					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GTGACATGAAATGGCAGAAGC	0.488																																						dbGAP											0													77.0	67.0	70.0					9																	127994885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.687A>G	9.37:g.127994885A>G			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.K229	ENST00000373538.3	37	c.687	CCDS6862.1	9																																																																																			RABEPK	-	pfam_Kelch_1	ENSG00000136933		0.488	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	23	0.00	0	A	NM_005833		127994885	127994885	+1	no_errors	ENST00000373538	ensembl	human	known	69_37n	silent	56	30.86	25	SNP	0.887	G
SLFN13	146857	genome.wustl.edu	37	17	33768827	33768827	+	Silent	SNP	G	G	A			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr17:33768827G>A	ENST00000285013.6	-	5	1952	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	SLFN13_ENST00000534689.1_Silent_p.L241L|SLFN13_ENST00000526861.1_Silent_p.L559L|SLFN13_ENST00000542635.1_Silent_p.L559L|SLFN13_ENST00000360502.2_Silent_p.L241L|SLFN13_ENST00000533791.1_Silent_p.L559L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	559						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTGAAGCCGAGTAAGACAA	0.542																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1677C>T	17.37:g.33768827G>A			E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.L559	ENST00000285013.6	37	c.1677	CCDS32620.1	17																																																																																			SLFN13	-	NULL	ENSG00000154760		0.542	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	10	0.00	0	G	NM_144682		33768827	33768827	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.279	A
TANC2	26115	genome.wustl.edu	37	17	61489359	61489359	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr17:61489359G>A	ENST00000424789.2	+	21	3548	c.3544G>A	c.(3544-3546)Gtc>Atc	p.V1182I	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Splice_Site_p.V1182I|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1182					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CGTGTCCTAGGTCCAGTTCCT	0.562																																						dbGAP											0													75.0	75.0	75.0					17																	61489359		2081	4213	6294	-	-	-	SO:0001630	splice_region_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3544-1G>A	17.37:g.61489359G>A			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.W1110*	ENST00000424789.2	37	c.3330	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617309	0.28801	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68025	-0.3;-0.3	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.061993	0.64402	D	0.000004	T	0.70859	0.3272	L	0.48935	1.535	0.80722	D	1	B;P	0.50066	0.414;0.931	B;P	0.49953	0.27;0.627	T	0.67070	-0.5763	9	.	.	.	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	1182;1182	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	I	1182	ENSP00000374171:V1182I;ENSP00000387593:V1182I	.	V	+	1	0	TANC2	58843091	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	8.032000	0.88838	2.810000	0.96702	0.585000	0.79938	GTC	TANC2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170921		0.562	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	50	0.00	0	G		Missense_Mutation	61489359	61489359	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583356	ensembl	human	putative	69_37n	nonsense	84	25.00	28	SNP	1.000	A
WDR74	54663	genome.wustl.edu	37	11	62603453	62603453	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr11:62603453T>A	ENST00000525239.1	-	5	886	c.349A>T	c.(349-351)Aag>Tag	p.K117*	WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000311713.7_Nonsense_Mutation_p.K117*|WDR74_ENST00000278856.4_Nonsense_Mutation_p.K117*|RP11-727F15.9_ENST00000535867.1_RNA|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000529106.1_Nonsense_Mutation_p.K117*|WDR74_ENST00000525752.1_Nonsense_Mutation_p.K60*			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	117					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGTGTCCTTGTCCTTGTCA	0.527																																						dbGAP											0													92.0	91.0	91.0					11																	62603453		1967	4168	6135	-	-	-	SO:0001587	stop_gained	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.349A>T	11.37:g.62603453T>A	ENSP00000432119:p.Lys117*		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K117*	ENST00000525239.1	37	c.349	CCDS44630.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.486985|6.486985	0.97607|0.97607	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752|ENST00000535048	.|.	.|.	.|.	4.96|4.96	2.69|2.69	0.31865|0.31865	.|.	0.000000|.	0.49916|.	D|.	0.000138|.	.|T	.|0.40196	.|0.1107	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47328	.|-0.9126	.|3	0.02654|.	T|.	1|.	-25.3561|-25.3561	5.7931|5.7931	0.18371|0.18371	0.0:0.2042:0.0:0.7958|0.0:0.2042:0.0:0.7958	.|.	.|.	.|.	.|.	X|L	117;117;117;117;60|108	.|.	ENSP00000278856:K117X|.	K|Q	-|-	1|2	0|0	WDR74|WDR74	62360029|62360029	0.999000|0.999000	0.42202|0.42202	0.041000|0.041000	0.18516|0.18516	0.002000|0.002000	0.02628|0.02628	1.333000|1.333000	0.33816|0.33816	0.989000|0.989000	0.38761|0.38761	-0.250000|-0.250000	0.11733|0.11733	AAG|CAA	WDR74	-	superfamily_WD40_repeat_dom	ENSG00000133316		0.527	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	76	0.00	0	T	NM_018093		62603453	62603453	-1	no_errors	ENST00000278856	ensembl	human	known	69_37n	nonsense	154	22.22	44	SNP	0.358	A
ZDHHC3	51304	genome.wustl.edu	37	3	44970893	44970893	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0WS-01A-11D-A10Y-09	TCGA-B6-A0WS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	271d1985-1b15-4828-8261-4415ab048de9	ad236498-9d88-4caf-afd9-4d7f068ceaa3	g.chr3:44970893G>T	ENST00000424952.2	-	6	914	c.646C>A	c.(646-648)Ctc>Atc	p.L216I	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.L250I|ZDHHC3_ENST00000296127.3_Missense_Mutation_p.L244I	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	216					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AGGATAAGGAGAATCACTGTG	0.542																																						dbGAP											0													150.0	126.0	134.0					3																	44970893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.646C>A	3.37:g.44970893G>T	ENSP00000395502:p.Leu216Ile		Q53A17|Q96BL0	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L244I	ENST00000424952.2	37	c.730	CCDS46811.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037941	0.75617	.	.	ENSG00000163812	ENST00000339420;ENST00000296127;ENST00000424952;ENST00000342790;ENST00000433512	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.74	5.74	0.90152	.	0.055843	0.64402	D	0.000001	T	0.40067	0.1102	L	0.52011	1.625	0.80722	D	1	P;P;P	0.50443	0.935;0.694;0.74	P;B;P	0.53760	0.734;0.248;0.457	T	0.01484	-1.1343	10	0.31617	T	0.26	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	216;216;244	E9PGS3;Q9NYG2-2;Q9NYG2	.;.;ZDHC3_HUMAN	I	82;244;216;250;64	ENSP00000404108:L82I;ENSP00000296127:L244I;ENSP00000395502:L216I;ENSP00000345268:L250I;ENSP00000416132:L64I	ENSP00000296127:L244I	L	-	1	0	ZDHHC3	44945897	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.968000	0.87980	2.712000	0.92718	0.563000	0.77884	CTC	ZDHHC3	-	NULL	ENSG00000163812		0.542	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1	53	0.00	0	G	NM_016598		44970893	44970893	-1	no_errors	ENST00000296127	ensembl	human	known	69_37n	missense	93	21.19	25	SNP	1.000	T
