#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND5	4540	genome.wustl.edu	37	M	12919	12919	+	Missense_Mutation	SNP	T	T	C			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chrM:12919T>C	ENST00000361567.2	+	1	583	c.583T>C	c.(583-585)Tca>Cca	p.S195P	MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	195					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TACACTCCAACTCATGAGACC	0.498																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.583T>C	M.37:g.12919T>C	ENSP00000354813:p.Ser195Pro		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.S195P	ENST00000361567.2	37	c.583		MT																																																																																			0	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.498	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	protein_coding		9	0	0	0.00	0	0	T	YP_003024036	0	0		12919	1	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	7	0	36.36	100.00	4	2	SNP	NULL	C
NLGN4X	57502	genome.wustl.edu	37	X	5821678	5821678	+	Missense_Mutation	SNP	G	G	T			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chrX:5821678G>T	ENST00000381095.3	-	5	1668	c.1041C>A	c.(1039-1041)gaC>gaA	p.D347E	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D347E|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D347E|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D347E|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D367E	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	347					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.D347D(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTGGGATGACGTCGCCGTCGA	0.587																																							0											1	Substitution - coding silent(1)	large_intestine(1)											133.0	92.0	106.0					X																	5821678		2203	4300	6503	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1041C>A	X.37:g.5821678G>T	ENSP00000370485:p.Asp347Glu		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D367E	ENST00000381095.3	37	c.1101	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672246	0.14776	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	3.93	-6.73	0.01749	Carboxylesterase, type B (1);	.	.	.	.	T	0.70193	0.3196	L	0.53249	1.67	0.45250	D	0.998259	P;D;B	0.53619	0.817;0.961;0.31	P;P;B	0.59171	0.623;0.853;0.145	T	0.76710	-0.2859	8	.	.	.	.	15.4484	0.75253	0.6664:0.0:0.3336:0.0	.	404;347;367	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	E	347;367;347;347;347	ENSP00000370485:D347E;ENSP00000370483:D367E;ENSP00000275857:D347E;ENSP00000370482:D347E;ENSP00000439203:D347E	.	D	-	3	2	NLGN4X	5831678	0.111000	0.22076	0.016000	0.15963	0.033000	0.12548	-0.722000	0.04958	-2.148000	0.00798	-0.191000	0.12829	GAC	0	pfam_CarbesteraseB		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	38	24	0	0.00	0	0	G	NM_020742	0	0		5821678	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	21	19	19.23	34.48	5	10	SNP	0.839	T
BCOR	54880	genome.wustl.edu	37	X	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chrX:39932171G>A	ENST00000378444.4	-	4	2656	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.R810*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R810*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.R810*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	810					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													119.0	115.0	116.0					X																	39932171		2202	4300	6502	SO:0001587	stop_gained	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2428C>T	X.37:g.39932171G>A	ENSP00000367705:p.Arg810*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R810*	ENST00000378444.4	37	c.2428	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	41	8.837567	0.98972	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1636	12.9687	0.58499	0.0:0.0:0.8392:0.1608	.	.	.	.	X	810;810;810;810;810;217	.	ENSP00000345923:R810X	R	-	1	2	BCOR	39817115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.795000	0.75140	2.442000	0.82660	0.513000	0.50165	CGA	0	NULL		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	29	206	0	0.00	0	0	G	NM_017745	0	0		39932171	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	nonsense	26	100	37.21	40.12	16	67	SNP	0.999	A
CYB5R1	51706	genome.wustl.edu	37	1	202931736	202931736	+	Silent	SNP	C	C	T			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr1:202931736C>T	ENST00000367249.4	-	9	911	c.837G>A	c.(835-837)ggG>ggA	p.G279G	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	279					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TTGGGGGTGGCCCACAAAGCA	0.562																																							0											0													132.0	115.0	121.0					1																	202931736		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.837G>A	1.37:g.202931736C>T			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.G279	ENST00000367249.4	37	c.837	CCDS1431.1	1																																																																																			0	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase		0.562	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	protein_coding	OTTHUMT00000099155.1	36	271	0	0.00	0	0	C	NM_016243	0	0		202931736	-1	no_errors	ENST00000367249	ensembl	human	known	74_37	silent	46	200	11.54	7.83	6	17	SNP	0.997	T
ZNF513	130557	genome.wustl.edu	37	2	27600982	27600982	+	Silent	SNP	G	G	C			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr2:27600982G>C	ENST00000323703.6	-	4	1254	c.1056C>G	c.(1054-1056)ccC>ccG	p.P352P	ZNF513_ENST00000407879.1_Silent_p.P290P|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	352					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGCCCTGGGGCCCCCCAC	0.642																																							0											0													44.0	57.0	52.0					2																	27600982		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1056C>G	2.37:g.27600982G>C			A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P352	ENST00000323703.6	37	c.1056	CCDS1751.1	2																																																																																			0	NULL		0.642	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	protein_coding	OTTHUMT00000215026.2	59	166	0	0.00	0	0	G	NM_144631	0	0		27600982	-1	no_errors	ENST00000323703	ensembl	human	known	74_37	silent	60	94	7.69	11.32	5	12	SNP	1	C
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001						0		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)																																								SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	0	superfamily_ARM-type_fold		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	29	348	0	0.00	0	0	T		rs559063155	T->C		198266834	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	38	262	9.52	8.71	4	25	SNP	1	C
COL25A1	84570	genome.wustl.edu	37	4	109767374	109767374	+	Splice_Site	SNP	C	C	G			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr4:109767374C>G	ENST00000399132.1	-	28	1966	c.1436G>C	c.(1435-1437)gGa>gCa	p.G479A	COL25A1_ENST00000399126.1_Splice_Site_p.G479A|COL25A1_ENST00000399127.1_Splice_Site_p.G452A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTTTGAGTCCCTAAAAATG	0.423																																							0											0													115.0	108.0	110.0					4																	109767374		1847	4098	5945	SO:0001630	splice_region_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1435-1G>C	4.37:g.109767374C>G				Missense_Mutation	SNP	pfam_Collagen	p.G479A	ENST00000399132.1	37	c.1436	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041258	0.55003	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99329	-5.75;-5.75;-5.75	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.96833	3.89	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.97495	1.0056	9	.	.	.	-6.7687	18.8175	0.92084	0.0:1.0:0.0:0.0	.	479;479	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	479;481;460;452;479;409	ENSP00000382083:G479A;ENSP00000382078:G452A;ENSP00000382077:G479A	.	G	-	2	0	COL25A1	109986823	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.044000	0.71012	2.450000	0.82876	0.561000	0.74099	GGA	0	pfam_Collagen		0.423	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	protein_coding	OTTHUMT00000315938.2	140	508	0	0.20	0	1	C	NM_032518	0	0	Missense_Mutation	109767374	-1	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	201	325	8.22	6.88	18	24	SNP	1	G
PLEKHG4B	153478	genome.wustl.edu	37	5	143228	143228	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr5:143228G>A	ENST00000283426.6	+	2	526	c.476G>A	c.(475-477)gGg>gAg	p.G159E	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	159							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AACCCCAGCGGGCCTTCCGAT	0.632																																							0											0													73.0	92.0	85.0					5																	143228		2203	4295	6498	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.476G>A	5.37:g.143228G>A	ENSP00000283426:p.Gly159Glu			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G159E	ENST00000283426.6	37	c.476	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	.	10.27	1.302781	0.23736	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.26810	1.71;3.07	2.75	-0.437	0.12272	.	.	.	.	.	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.29181	-1.0020	9	0.30078	T	0.28	.	0.9757	0.01425	0.1782:0.3271:0.3141:0.1806	.	159	Q96PX9	PKH4B_HUMAN	E	159;73	ENSP00000283426:G159E;ENSP00000422493:G73E	ENSP00000283426:G159E	G	+	2	0	PLEKHG4B	196228	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.175000	0.09825	-0.136000	0.11475	0.297000	0.19635	GGG	0	NULL		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	37	96	0	0.00	0	0	G	NM_052909	0	0		143228	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	20	61	16.67	10.14	4	7	SNP	0	A
SLU7	10569	genome.wustl.edu	37	5	159833628	159833628	+	Silent	SNP	G	G	T			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr5:159833628G>T	ENST00000297151.4	-	12	1521	c.1134C>A	c.(1132-1134)ggC>ggA	p.G378G		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	378					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGTTCTTGGCCACCATACT	0.388																																							0											0													93.0	86.0	88.0					5																	159833628		2203	4300	6503	SO:0001819	synonymous_variant	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1134C>A	5.37:g.159833628G>T			D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Silent	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.G378	ENST00000297151.4	37	c.1134	CCDS4352.1	5																																																																																			0	pfam_Slu7		0.388	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	protein_coding	OTTHUMT00000252673.1	62	541	0	0.00	0	0	G	NM_006425	0	0		159833628	-1	no_errors	ENST00000297151	ensembl	human	known	74_37	silent	76	372	13.64	13.08	12	56	SNP	0.964	T
ZBED9	114821	genome.wustl.edu	37	6	28542861	28542861	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr6:28542861C>T	ENST00000452236.2	-	3	2238	c.1621G>A	c.(1621-1623)Gtt>Att	p.V541I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAGCTGGCAACAAGTTCTTCA	0.413																																							0											0													104.0	103.0	103.0					6																	28542861		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.1621G>A	6.37:g.28542861C>T	ENSP00000395259:p.Val541Ile			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.V541I	ENST00000452236.2	37	c.1621	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119611	0.20877	.	.	ENSG00000232040	ENST00000452236	T	0.01379	4.96	3.41	-0.817	0.10836	.	.	.	.	.	T	0.00356	0.0011	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40905	-0.9538	9	0.25751	T	0.34	.	2.8405	0.05527	0.2005:0.4355:0.0:0.364	.	541	Q6R2W3	SCND3_HUMAN	I	541	ENSP00000395259:V541I	ENSP00000395259:V541I	V	-	1	0	SCAND3	28650840	0.018000	0.18449	0.010000	0.14722	0.958000	0.62258	-0.263000	0.08670	-0.341000	0.08376	0.563000	0.77884	GTT	0	NULL		0.413	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	17	319	0	0.00	0	0	C		0	0		28542861	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	26	196	10.34	8.84	3	19	SNP	0.037	T
CYP3A43	64816	genome.wustl.edu	37	7	99459367	99459367	+	Silent	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr7:99459367G>A	ENST00000354829.2	+	11	1261	c.1158G>A	c.(1156-1158)gtG>gtA	p.V386V	CYP3A43_ENST00000415413.1_Silent_p.V175V|CYP3A43_ENST00000417625.1_Silent_p.V276V|CYP3A43_ENST00000444905.1_Silent_p.V133V|CYP3A43_ENST00000342499.4_Silent_p.V246V|CYP3A43_ENST00000312017.5_Silent_p.V386V|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.V386V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	386			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCAATGGAGTGTTCATTCCCA	0.438																																							0											0													146.0	128.0	134.0					7																	99459367		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1158G>A	7.37:g.99459367G>A			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V386	ENST00000354829.2	37	c.1158	CCDS5676.1	7																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.438	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	protein_coding	OTTHUMT00000344379.1	66	254	0	0.00	0	0	G		0	0		99459367	1	no_errors	ENST00000222382	ensembl	human	known	74_37	silent	88	192	9.28	4.48	9	9	SNP	0	A
RMDN1	51115	genome.wustl.edu	37	8	87520845	87520845	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr8:87520845G>A	ENST00000406452.3	-	1	164	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RMDN1_ENST00000519966.1_Missense_Mutation_p.A2V|RMDN1_ENST00000518772.1_5'UTR|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.A2V	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	2						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AGCAGCCAGCGCCATGACCTG	0.672																																							0											0													16.0	16.0	16.0					8																	87520845		2171	4249	6420	SO:0001583	missense	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.5C>T	8.37:g.87520845G>A	ENSP00000385927:p.Ala2Val		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	NULL	p.A2V	ENST00000406452.3	37	c.5	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014917	0.54468	.	.	ENSG00000176623	ENST00000406452;ENST00000519966;ENST00000430676	T;T;T	0.59083	1.05;0.38;0.29	3.87	2.98	0.34508	.	0.534241	0.14120	N	0.340098	T	0.51312	0.1667	M	0.68952	2.095	0.80722	D	1	B;B;B	0.27117	0.168;0.168;0.045	B;B;B	0.15484	0.013;0.013;0.013	T	0.54029	-0.8354	10	0.72032	D	0.01	0.1378	7.392	0.26915	0.1211:0.0:0.8789:0.0	.	2;2;2	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	V	2	ENSP00000385927:A2V;ENSP00000428661:A2V;ENSP00000409661:A2V	ENSP00000385927:A2V	A	-	2	0	FAM82B	87589961	0.975000	0.34042	0.960000	0.40013	0.005000	0.04900	2.157000	0.42320	0.962000	0.38057	0.655000	0.94253	GCG	0	NULL		0.672	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN1	protein_coding	OTTHUMT00000374770.2	21	39	0	0.00	0	0	G	NM_016033	0	0		87520845	-1	no_errors	ENST00000406452	ensembl	human	known	74_37	missense	22	31	12	16.22	3	6	SNP	0.979	A
KIF5B	3799	genome.wustl.edu	37	10	32329384	32329384	+	Splice_Site	SNP	A	A	T			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr10:32329384A>T	ENST00000302418.4	-	3	673	c.216T>A	c.(214-216)gaT>gaA	p.D72E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	72	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTTCAAGTACATCTATGAGAA	0.338			T	"""RET, ALK"""	NSCLC																																		0		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													139.0	129.0	132.0					10																	32329384		2202	4295	6497	SO:0001630	splice_region_variant	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.215-1T>A	10.37:g.32329384A>T			A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D72E	ENST00000302418.4	37	c.216	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717856	0.89205	.	.	ENSG00000170759	ENST00000302418	T	0.73152	-0.72	5.8	4.67	0.58626	Kinesin, motor domain (4);	0.048871	0.85682	D	0.000000	T	0.80999	0.4732	M	0.64630	1.985	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.81959	-0.0694	10	0.87932	D	0	.	11.8065	0.52158	0.9315:0.0:0.0685:0.0	.	72	P33176	KINH_HUMAN	E	72	ENSP00000307078:D72E	ENSP00000307078:D72E	D	-	3	2	KIF5B	32369390	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.146000	0.71777	1.036000	0.39998	0.529000	0.55759	GAT	0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	protein_coding	OTTHUMT00000047467.1	51	374	0	0.27	0	1	A	NM_004521	0	0	Missense_Mutation	32329384	-1	no_errors	ENST00000302418	ensembl	human	known	74_37	missense	67	283	8.22	5.35	6	16	SNP	1	T
CHEK1	1111	genome.wustl.edu	37	11	125514478	125514478	+	Silent	SNP	A	A	G			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr11:125514478A>G	ENST00000534070.1	+	11	1428	c.1173A>G	c.(1171-1173)caA>caG	p.Q391Q	CHEK1_ENST00000427383.2_Silent_p.Q407Q|CHEK1_ENST00000544373.1_Silent_p.Q391Q|CHEK1_ENST00000428830.2_Silent_p.Q391Q|CHEK1_ENST00000524737.1_Silent_p.Q391Q|CHEK1_ENST00000438015.1_Silent_p.Q391Q|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	391	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AATCTTATCAATGCCTGAAAG	0.373								Other conserved DNA damage response genes																															0											0													117.0	118.0	118.0					11																	125514478		2201	4299	6500	SO:0001819	synonymous_variant	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1173A>G	11.37:g.125514478A>G			A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Silent	SNP	pfam_Prot_kinase_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_dom	p.Q391	ENST00000534070.1	37	c.1173	CCDS8459.1	11																																																																																			0	NULL		0.373	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	protein_coding	OTTHUMT00000386714.1	86	333	0	0.30	0	1	A	NM_001274	0	0		125514478	1	no_errors	ENST00000438015	ensembl	human	known	74_37	silent	72	252	10	8.66	8	24	SNP	0.002	G
SNX19	399979	genome.wustl.edu	37	11	130784293	130784293	+	Silent	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr11:130784293G>A	ENST00000265909.4	-	1	2111	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.A514A|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	514					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGCTGAAGGTGGCTGAGCTGA	0.537																																							0											0													103.0	92.0	96.0					11																	130784293		2201	4297	6498	SO:0001819	synonymous_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1542C>T	11.37:g.130784293G>A			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.A514	ENST00000265909.4	37	c.1542	CCDS31721.1	11																																																																																			0	superfamily_Phox		0.537	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	protein_coding	OTTHUMT00000385649.1	32	120	0	0.00	0	0	G	NM_014758	0	0		130784293	-1	no_errors	ENST00000265909	ensembl	human	known	74_37	silent	18	108	28	6.90	7	8	SNP	1	A
SOX1	6656	genome.wustl.edu	37	13	112722167	112722167	+	Silent	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr13:112722167G>A	ENST00000330949.1	+	1	255	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	65					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CCCGCGGGCAGCGGCGCAAGA	0.711																																							0											0													36.0	40.0	39.0					13																	112722167		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.195G>A	13.37:g.112722167G>A			Q5W0Q1	Silent	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q65	ENST00000330949.1	37	c.195	CCDS9523.1	13																																																																																			0	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.711	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	protein_coding	OTTHUMT00000045817.3	56	62	0	0.00	0	0	G	NM_005986	0	0		112722167	1	no_errors	ENST00000330949	ensembl	human	known	74_37	silent	57	66	12.31	9.59	8	7	SNP	1	A
MCEMP1	199675	genome.wustl.edu	37	19	7742553	7742553	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr19:7742553C>G	ENST00000333598.3	+	2	579	c.125C>G	c.(124-126)aCc>aGc	p.T42S	C19orf59_ENST00000597445.1_Intron|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		42						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GAGAATATCACCTTGGCCTTC	0.542											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													97.0	78.0	85.0					19																	7742553		2203	4300	6503	SO:0001583	missense	0																														ENST00000333598.3:c.125C>G	19.37:g.7742553C>G	ENSP00000329920:p.Thr42Ser	644	Q8IX20	Missense_Mutation	SNP	NULL	p.T42S	ENST00000333598.3	37	c.125	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245541	0.39697	.	.	ENSG00000183019	ENST00000333598	T	0.25749	1.78	4.06	2.97	0.34412	.	0.402618	0.18321	N	0.144801	T	0.17577	0.0422	L	0.29908	0.895	0.27661	N	0.947067	P	0.46142	0.873	B	0.40066	0.318	T	0.05582	-1.0876	10	0.42905	T	0.14	-27.7234	9.3019	0.37851	0.2162:0.7838:0.0:0.0	.	42	Q8IX19	MCEM1_HUMAN	S	42	ENSP00000329920:T42S	ENSP00000329920:T42S	T	+	2	0	C19orf59	7648553	0.811000	0.29063	0.997000	0.53966	0.554000	0.35429	0.224000	0.17738	0.926000	0.37118	0.561000	0.74099	ACC	0	NULL		0.542	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	protein_coding	OTTHUMT00000461248.1	42	384	0	0.00	0	0	C		0	0		7742553	1	no_errors	ENST00000333598	ensembl	human	known	74_37	missense	42	229	12.5	12.93	6	34	SNP	1	G
C6orf223	221416	genome.wustl.edu	37	6	43970530	43970530	+	Silent	SNP	G	G	A			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr6:43970530G>A	ENST00000336600.5	+	4	416	c.396G>A	c.(394-396)gcG>gcA	p.A132A	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Silent_p.A112A|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	132	Ala-rich.			A -> AA (in Ref. 3; AAH32706). {ECO:0000305}.						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			cggcggcggcggGAGGAGACG	0.781																																							0											0													2.0	3.0	3.0					6																	43970530		1234	2788	4022	SO:0001819	synonymous_variant	0			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.396G>A	6.37:g.43970530G>A			E9PB59|Q8N575	Silent	SNP	NULL	p.A132	ENST00000336600.5	37	c.396	CCDS34459.1	6																																																																																			0	NULL		0.781	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	protein_coding	OTTHUMT00000040702.3	21	0	0	0.00	0	0	G	NM_153246	0	0		43970530	1	no_errors	ENST00000336600	ensembl	human	known	74_37	silent	20	0	16.67	0.00	4	0	SNP	0.006	A
POMZP3	22932	genome.wustl.edu	37	7	76256128	76256129	+	5'UTR	INS	-	-	GGGG	rs555600099	byFrequency	TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr7:76256128_76256129insGGGG	ENST00000310842.4	-	0	429_430				UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_5'UTR|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion											kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GAgcgcggcgccgggcgggcgg	0.748																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.-256->CCCC	7.37:g.76256128_76256129insGGGG			F6STJ3|Q12903|Q9BWB4	RNA	INS	0	NULL	ENST00000310842.4	37	NULL	CCDS43606.1	7																																																																																			0	0		0.748	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133091	protein_coding	OTTHUMT00000341775.1	14	2	0	0.00	0	0	0	NM_012230	0	0		76256129	1	no_errors	ENST00000418663	ensembl	human	known	74_37	rna	12	5	25	0.00	4	0	INS	0.008:0.010	GGGG
