#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CHD6	84181	hgsc.bcm.edu	37	20	40033919	40033919	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr20:40033919G>A	ENST00000373233.3	-	37	7639	c.7462C>T	c.(7462-7464)Cca>Tca	p.P2488S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2488					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.P2488S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGATGCCTGGCATATTTCTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											70.0	67.0	68.0					20																	40033919		2203	4300	6503	39467333	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7462C>T	20.37:g.40033919G>A	ENSP00000362330:p.Pro2488Ser		39467333	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961563	0.53400	.	.	ENSG00000124177	ENST00000373233	D	0.85955	-2.05	5.55	5.55	0.83447	.	0.105036	0.42682	D	0.000666	T	0.79896	0.4525	L	0.40543	1.245	0.80722	D	1	P	0.39665	0.682	B	0.30401	0.115	T	0.81965	-0.0691	10	0.62326	D	0.03	-11.6425	19.7069	0.96076	0.0:0.0:1.0:0.0	.	2488	Q8TD26	CHD6_HUMAN	S	2488	ENSP00000362330:P2488S	ENSP00000362330:P2488S	P	-	1	0	CHD6	39467333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.651000	0.98493	2.894000	0.99253	0.591000	0.81541	CCA		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CNOT3	4849	hgsc.bcm.edu	37	19	54659132	54659132	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr19:54659132G>A	ENST00000406403.1	+	17	3852	c.2249G>A	c.(2248-2250)cGg>cAg	p.R750Q	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R750Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	750	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R750Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGAGGACCGGGACCTCCAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											67.0	56.0	60.0					19																	54659132		2203	4300	6503	59350944	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2249G>A	19.37:g.54659132G>A	ENSP00000383954:p.Arg750Gln		59350944	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763328	0.89932	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T	0.52057	0.68;0.68	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000003	T	0.47154	0.1430	N	0.04508	-0.205	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.61525	-0.7045	10	0.66056	D	0.02	-26.404	16.726	0.85422	0.0:0.0:1.0:0.0	.	750	O75175	CNOT3_HUMAN	Q	750;750;85	ENSP00000221232:R750Q;ENSP00000383954:R750Q	ENSP00000221232:R750Q	R	+	2	0	CNOT3	59350944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.550000	0.86006	0.561000	0.74099	CGG		0.642	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
COL4A4	1286	hgsc.bcm.edu	37	2	227942765	227942765	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr2:227942765C>T	ENST00000396625.3	-	25	2039	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G611D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	611	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G611D(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAATCCTTTACCACCTGGGGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											36.0	38.0	37.0					2																	227942765		1834	4092	5926	227651009	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1832G>A	2.37:g.227942765C>T	ENSP00000379866:p.Gly611Asp		227651009	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	1.396	-0.579354	0.03854	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97016	-4.21;-4.21	5.82	-9.69	0.00524	.	.	.	.	.	T	0.81833	0.4906	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.75439	-0.3317	9	0.11182	T	0.66	.	10.9292	0.47207	0.0:0.0837:0.2696:0.6466	.	611	P53420	CO4A4_HUMAN	D	611	ENSP00000379866:G611D;ENSP00000328553:G611D	ENSP00000328553:G611D	G	-	2	0	COL4A4	227651009	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	-0.389000	0.07342	-1.492000	0.01838	0.650000	0.86243	GGT		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
TPK1	27010	hgsc.bcm.edu	37	7	144320302	144320302	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr7:144320302C>T	ENST00000360057.3	-	6	413	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.C99Y|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.C104Y	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	104					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.C104Y(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CATTTTAAGGCACTTAGTAAA	0.318																																					Ovarian(45;88 1034 2073 5829 28455)											1	Substitution - Missense(1)	ovary(1)	7											200.0	216.0	211.0					7																	144320302		2203	4300	6503	143951235	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.311G>A	7.37:g.144320302C>T	ENSP00000353165:p.Cys104Tyr		143951235	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045929	0.75846	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	6.02	6.02	0.97574	Thiamin pyrophosphokinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.94654	0.7842	10	0.87932	D	0	-15.1097	16.0408	0.80680	0.0:1.0:0.0:0.0	.	104;104;99	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	Y	104;99;104;104	ENSP00000353165:C104Y;ENSP00000438813:C99Y;ENSP00000367339:C104Y;ENSP00000448655:C104Y	ENSP00000353165:C104Y	C	-	2	0	TPK1	143951235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.677000	0.61634	2.865000	0.98341	0.655000	0.94253	TGC		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
TPO	7173	hgsc.bcm.edu	37	2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E|TPO_ENST00000349624.3_Missense_Mutation_p.A403E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A576E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											116.0	103.0	107.0					2																	1491722		2203	4300	6503	1470729	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1727C>A	2.37:g.1491722C>A	ENSP00000318820:p.Ala576Glu		1470729	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824933	0.90955	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79784	0.98;0.991;0.993	D	0.93095	0.6503	10	0.87932	D	0	-23.2278	17.8262	0.88666	0.0:1.0:0.0:0.0	.	576;403;576	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	E	576;576;576;403;576;403;505	ENSP00000337263:A576E;ENSP00000318820:A576E;ENSP00000263886:A576E;ENSP00000332044:A403E;ENSP00000329869:A576E;ENSP00000371633:A403E;ENSP00000405788:A505E	ENSP00000329869:A576E	A	+	2	0	TPO	1470729	0.998000	0.40836	0.922000	0.36590	0.923000	0.55619	3.799000	0.55529	2.191000	0.70037	0.591000	0.81541	GCG		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
CNTNAP2	26047	hgsc.bcm.edu	37	7	146818215	146818215	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr7:146818215G>A	ENST00000361727.3	+	6	1415	c.899G>A	c.(898-900)cGt>cAt	p.R300H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	300	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R300L(1)|p.R300H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCACTTCCGTACCAATGGA	0.483										HNSCC(39;0.1)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	7											181.0	142.0	155.0					7																	146818215		2203	4300	6503	146449148	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.899G>A	7.37:g.146818215G>A	ENSP00000354778:p.Arg300His		146449148	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721253	0.68959	.	.	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000010	T	0.74854	0.3771	L	0.41824	1.3	0.80722	D	1	D	0.53312	0.959	P	0.52514	0.701	T	0.68861	-0.5297	10	0.10902	T	0.67	.	12.0642	0.53578	0.0788:0.0:0.9212:0.0	.	300	Q9UHC6	CNTP2_HUMAN	H	300	ENSP00000354778:R300H	ENSP00000354778:R300H	R	+	2	0	CNTNAP2	146449148	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.913000	0.87471	2.756000	0.94617	0.563000	0.77884	CGT		0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DCC	1630	hgsc.bcm.edu	37	18	50734110	50734110	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr18:50734110G>A	ENST00000442544.2	+	11	2400	c.1784G>A	c.(1783-1785)aGt>aAt	p.S595N	DCC_ENST00000581580.1_Missense_Mutation_p.S250N|DCC_ENST00000412726.1_Missense_Mutation_p.S443N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	595	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.S595N(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCGAATATAGTCTTCGATTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	18											149.0	155.0	153.0					18																	50734110		2203	4300	6503	48988108	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1784G>A	18.37:g.50734110G>A	ENSP00000389140:p.Ser595Asn		48988108		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435058	0.25813	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56941	0.43;0.43	5.83	-2.49	0.06403	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.547984	0.18259	N	0.146690	T	0.50188	0.1601	M	0.70275	2.135	0.20873	N	0.999837	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.25291	0.015;0.015;0.059	T	0.46884	-0.9159	10	0.38643	T	0.18	.	14.2077	0.65744	0.2179:0.1967:0.5854:0.0	.	443;443;595	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	N	595;528;443	ENSP00000389140:S595N;ENSP00000397322:S443N	ENSP00000304146:S528N	S	+	2	0	DCC	48988108	0.263000	0.24083	0.859000	0.33776	0.905000	0.53344	-0.527000	0.06200	-0.913000	0.03832	-0.312000	0.09012	AGT		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
GBE1	2632	hgsc.bcm.edu	37	3	81640303	81640303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr3:81640303G>C	ENST00000429644.2	-	9	1764	c.1121C>G	c.(1120-1122)tCa>tGa	p.S374*	GBE1_ENST00000489715.1_Nonsense_Mutation_p.S333*	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	374					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S374L(2)|p.S374*(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTAATCACCTGAGAAACCTTG	0.358									Glycogen Storage Disease, type IV																																							3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|ovary(1)	3											101.0	88.0	92.0					3																	81640303		1858	4102	5960	81722993	SO:0001587	stop_gained	2632	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1121C>G	3.37:g.81640303G>C	ENSP00000410833:p.Ser374*		81722993	B3KWV3|Q96EN0	Nonsense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074705	0.97262	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	.	.	.	5.41	4.53	0.55603	.	0.121727	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4201	11.3092	0.49353	0.0:0.1787:0.6949:0.1263	.	.	.	.	X	374;425;333;137	.	ENSP00000264326:S425X	S	-	2	0	GBE1	81722993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.017000	0.76399	1.390000	0.46547	0.650000	0.86243	TCA		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
NEIL3	55247	hgsc.bcm.edu	37	4	178283454	178283454	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr4:178283454G>T	ENST00000264596.3	+	10	1765	c.1647G>T	c.(1645-1647)ttG>ttT	p.L549F		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	549					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.L549F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGGCAGATTTGTCCTTCCCAT	0.393								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	4											87.0	88.0	88.0					4																	178283454		2203	4300	6503	178520448	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1647G>T	4.37:g.178283454G>T	ENSP00000264596:p.Leu549Phe		178520448	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428492	0.62844	.	.	ENSG00000109674	ENST00000264596	T	0.04119	3.7	5.16	1.2	0.21068	.	0.089995	0.44483	D	0.000457	T	0.15132	0.0365	M	0.77103	2.36	0.50467	D	0.999877	D	0.76494	0.999	D	0.75020	0.985	T	0.01001	-1.1485	10	0.62326	D	0.03	-11.9413	4.8701	0.13627	0.1408:0.1211:0.6135:0.1247	.	549	Q8TAT5	NEIL3_HUMAN	F	549	ENSP00000264596:L549F	ENSP00000264596:L549F	L	+	3	2	NEIL3	178520448	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	1.458000	0.35223	0.675000	0.31264	0.491000	0.48974	TTG		0.393	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
RFPL3	10738	hgsc.bcm.edu	37	22	32756703	32756703	+	Missense_Mutation	SNP	C	C	T	rs73166367		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr22:32756703C>T	ENST00000249007.4	+	2	1043	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.R251C|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.R251C	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	280	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.R251C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCACTGCGCCCATTTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	22											127.0	105.0	113.0					22																	32756703		2203	4300	6503	31086703	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.838C>T	22.37:g.32756703C>T	ENSP00000249007:p.Arg280Cys		31086703	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306312	0.23736	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.69435	-0.4;-0.4;-0.4	0.475	0.475	0.16774	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.73984	0.3657	M	0.74647	2.275	0.30658	N	0.754678	D	0.57899	0.981	P	0.59424	0.857	T	0.69687	-0.5078	9	0.54805	T	0.06	.	6.6676	0.23050	0.0:0.9999:0.0:1.0E-4	.	280	O75679	RFPL3_HUMAN	C	251;280;251	ENSP00000380609:R251C;ENSP00000249007:R280C;ENSP00000371520:R251C	ENSP00000249007:R280C	R	+	1	0	RFPL3	31086703	0.000000	0.05858	0.162000	0.22713	0.081000	0.17604	0.183000	0.16919	0.473000	0.27368	0.205000	0.17691	CGC		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604	
SLPI	6590	hgsc.bcm.edu	37	20	43883157	43883157	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr20:43883157G>C	ENST00000338380.2	-	1	48	c.28C>G	c.(28-30)Ctg>Gtg	p.L10V		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	10					negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L10V(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGCAGCACCAGGAAGGGGAAG	0.557																																					GBM(64;162 1089 31780 33427 34538)											1	Substitution - Missense(1)	ovary(1)	20											82.0	67.0	72.0					20																	43883157		2203	4300	6503	43316571	SO:0001583	missense	6590			X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.28C>G	20.37:g.43883157G>C	ENSP00000342082:p.Leu10Val		43316571	B2R5H8|P07757	Missense_Mutation	SNP	ENST00000338380.2	37	CCDS13347.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.065842	0.00036	.	.	ENSG00000124107	ENST00000338380	T	0.17691	2.26	3.9	-3.71	0.04424	.	2.458010	0.02323	N	0.073135	T	0.05731	0.0150	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.14252	T	0.57	.	5.272	0.15630	0.0:0.3064:0.1597:0.5339	.	10	P03973	SLPI_HUMAN	V	10	ENSP00000342082:L10V	ENSP00000342082:L10V	L	-	1	2	SLPI	43316571	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.916000	0.04029	-1.033000	0.03299	-1.254000	0.01491	CTG		0.557	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3		
TP53	7157	hgsc.bcm.edu	37	17	7577585	7577596	+	In_Frame_Del	DEL	GATGGTGGTACA	GATGGTGGTACA	-	rs587781589		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	GATGGTGGTACA	GATGGTGGTACA	GATGGTGGTACA	-	GATGGTGGTACA	GATGGTGGTACA	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr17:7577585_7577596delGATGGTGGTACA	ENST00000269305.4	-	7	874_885	c.685_696delTGTACCACCATC	c.(685-696)tgtaccaccatcdel	p.CTTI229del	TP53_ENST00000359597.4_In_Frame_Del_p.CTTI229del|TP53_ENST00000413465.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000420246.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000445888.2_In_Frame_Del_p.CTTI229del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(14)|p.I232F(10)|p.T230I(9)|p.I232T(8)|p.0?(8)|p.T231T(7)|p.I232N(6)|p.I232V(5)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.T231S(3)|p.I232_H233insG(3)|p.C229F(3)|p.T230fs*6(2)|p.T231I(2)|p.T231A(2)|p.I232S(2)|p.C229_H233delCTTIH(2)|p.T231fs*16(2)|p.T230S(2)|p.C229R(2)|p.C229S(2)|p.C229Y(2)|p.T230N(2)|p.T230P(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.C136fs*10(1)|p.T231del(1)|p.I232I(1)|p.I232L(1)|p.T138T(1)|p.C229_T230insX(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.S227_I232delSDCTTI(1)|p.C136fs*1(1)|p.C136F(1)|p.I232_Y236delIHYNY(1)|p.I139F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*7(1)|p.C229_I232del(1)|p.I139T(1)|p.I232fs*15(1)|p.T230A(1)|p.T230T(1)|p.C229C(1)|p.I232fs*8(1)|p.C229G(1)|p.T231N(1)|p.I232fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGTTGTAGTGGATGGTGGTACAGTCAGAGCCA	0.528		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	142	Substitution - Missense(69)|Deletion - Frameshift(27)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(3)|Complex - frameshift(1)	biliary_tract(17)|breast(16)|lung(15)|large_intestine(12)|upper_aerodigestive_tract(11)|oesophagus(10)|ovary(10)|haematopoietic_and_lymphoid_tissue(9)|urinary_tract(6)|central_nervous_system(5)|endometrium(5)|stomach(4)|skin(4)|NS(4)|bone(4)|liver(3)|pancreas(2)|thymus(2)|thyroid(1)|soft_tissue(1)|prostate(1)	17	GRCh37	CD076915	TP53	D																																				7518321	SO:0001651	inframe_deletion	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.685_696delTGTACCACCATC	17.37:g.7577585_7577596delGATGGTGGTACA	ENSP00000269305:p.Cys229_Ile232del		7518310	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.528	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
VN1R1	57191	hgsc.bcm.edu	37	19	57967607	57967607	+	Missense_Mutation	SNP	G	G	C	rs372495902		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr19:57967607G>C	ENST00000321039.3	-	1	247	c.248C>G	c.(247-249)aCg>aGg	p.T83R	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.T83R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATCAAGTCCGTGGGTCTCAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											46.0	42.0	43.0					19																	57967607		2203	4300	6503	62659419	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.248C>G	19.37:g.57967607G>C	ENSP00000322339:p.Thr83Arg		62659419	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184258	0.38609	.	.	ENSG00000178201	ENST00000321039	T	0.41065	1.01	4.18	-8.35	0.00984	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39489	0.1080	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	P	0.57371	0.819	T	0.39921	-0.9590	9	0.56958	D	0.05	.	2.3866	0.04367	0.3529:0.0944:0.374:0.1787	.	83	Q9GZP7	VN1R1_HUMAN	R	83	ENSP00000322339:T83R	ENSP00000322339:T83R	T	-	2	0	VN1R1	62659419	0.137000	0.22531	0.000000	0.03702	0.002000	0.02628	0.063000	0.14410	-1.988000	0.00980	-1.269000	0.01422	ACG		0.423	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633	
