#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SUSD5	26032	genome.wustl.edu	37	3	33194315	33194315	+	Silent	SNP	G	G	A			TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr3:33194315G>A	ENST00000309558.3	-	5	2226	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	603					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.H603H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGAGCTCTTGTGCTGGCACT	0.597																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											63.0	68.0	66.0					3																	33194315		2203	4294	6497	33169319	SO:0001819	synonymous_variant	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1809C>T	3.37:g.33194315G>A		466	7.17	36		NA	NA	NA	33169319	800	37.08	472		Silent	SNP	HMMSmart_CCP,HMMPfam_Xlink,HMMSmart_LINK,PatternScan_LINK_1,superfamily_Complement_control_module,superfamily_C-type_lectin_fold	p.H603	ENST00000309558.3	37	c.1809	CCDS46787.1	3																																																																																			-	NULL		0.597	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	protein_coding	OTTHUMT00000341902.1	G	XM_171054		33169319	-1	no_errors	NM_015551.1	genbank	human	validated	54_36p	silent	SNP	1.000	A
FGL2	10875	genome.wustl.edu	37	7	76825955	76825955	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr7:76825955C>A	ENST00000248598.5	-	2	993	c.961G>T	c.(961-963)Gtg>Ttg	p.V321L	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	321	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.V321L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCATTAGCCACATAAAACTGA	0.353																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											160.0	156.0	157.0					7																	76825955		2203	4300	6503	76663891	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.961G>T	7.37:g.76825955C>A	ENSP00000248598:p.Val321Leu	168	9.19	17		1	75.00	3	76663891	663	35.19	360		Missense_Mutation	SNP	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like	p.V321L	ENST00000248598.5	37	c.961	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137654	0.77775	.	.	ENSG00000127951	ENST00000248598	T	0.80653	-1.4	6.03	6.03	0.97812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	L	0.53561	1.675	0.80722	D	1	P	0.52061	0.95	P	0.62298	0.9	T	0.81393	-0.0953	10	0.20519	T	0.43	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	321	Q14314	FGL2_HUMAN	L	321	ENSP00000248598:V321L	ENSP00000248598:V321L	V	-	1	0	FGL2	76663891	1.000000	0.71417	0.994000	0.49952	0.555000	0.35460	5.757000	0.68766	2.861000	0.98227	0.655000	0.94253	GTG	-	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like		0.353	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	protein_coding	OTTHUMT00000253176.1	C	NM_006682		76663891	-1	no_errors	NM_006682.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TMEM51	55092	genome.wustl.edu	37	1	15518745	15518746	+	Intron	INS	-	-	AGCGTAAGTACACGGGTGG	rs138170119|rs372021047	byFrequency	TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	-	-	-	AGCGTAAGTACACGGGTGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr1:15518745_15518746insAGCGTAAGTACACGGGTGG	ENST00000428417.1	+	2	253				TMEM51_ENST00000400796.3_Intron|TMEM51_ENST00000376008.2_Intron|TMEM51_ENST00000434578.2_Intron|TMEM51_ENST00000376014.3_Intron	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GTCTTTCACTTAGTTTTTAGCA	0.411														832	0.166134	0.2421	0.1311	5008	,	,		17604	0.0317		0.2187	False		,,,				2504	0.1728					dbGAP											0			1																																								15391333	SO:0001627	intron_variant	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.-193-22645->AGCGTAAGTACACGGGTGG	1.37:g.15518745_15518746insAGCGTAAGTACACGGGTGG		NA	NA	NA		NA	NA	NA	15391332	NA	NA	NA	A8K819	Splice_Site	INS	-	NULL	ENST00000428417.1	37	c.NULL	CCDS154.1	1																																																																																			-	-		0.411	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215720	protein_coding	OTTHUMT00000005699.3	-	NM_018022		15391333	-1	no_coding_region:pseudogene	ENST00000400795	ensembl	human	known	54_36p	splice_site_ins	INS	0.994:0.991	AGCGTAAGTACACGGGTGG
OVGP1	5016	genome.wustl.edu	37	1	111957502	111957525	+	In_Frame_Del	DEL	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	-	rs3767610|rs201350653|rs111600994|rs3767609|rs3767608|rs549398942|rs113843251|rs568931117|rs61742558	byFrequency	TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	-	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr1:111957502_111957525delTCACAGACTGATGACTCACAGGGG	ENST00000369732.3	-	11	1653_1676	c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	c.(1597-1623)acccctgtgagtcatcagtctgtgagc>agc	p.TPVSHQSV533del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	533					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCTCCAGGGCTCACAGACTGATGACTCACAGGGGTCACAGACTG	0.545																																						dbGAP											4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)	1																																								111759048	SO:0001651	inframe_deletion	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	1.37:g.111957502_111957525delTCACAGACTGATGACTCACAGGGG	ENSP00000358747:p.Thr533_Val540del	NA	NA	NA		NA	NA	NA	111759025	NA	NA	NA	A0AV19|B9EGE1|Q15841	In_Frame_Del	DEL	HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain	p.TPVSHQSV533in_frame_del	ENST00000369732.3	37	c.1621_1598	CCDS834.1	1																																																																																			-	NULL		0.545	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	protein_coding	OTTHUMT00000032461.1	TCACAGACTGATGACTCACAGGGG	NM_002557		111759048	-1	no_errors	NM_002557.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.115:0.128:0.134:0.121:0.100:0.104:0.104:0.104:0.104:0.105:0.099:0.087:0.066:0.056:0.038:0.029:0.001:0.002:0.076:0.129:0.139:0.142:0.139:0.125	-
DPYS	1807	genome.wustl.edu	37	8	105394094	105394113	+	Intron	DEL	ACACACACACACACACACAT	ACACACACACACACACACAT	-	rs199767203|rs58941534|rs67461499|rs61402588|rs59581374|rs137951894	byFrequency	TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	ACACACACACACACACACAT	ACACACACACACACACACAT	ACACACACACACACACACAT	-	ACACACACACACACACACAT	ACACACACACACACACACAT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr8:105394094_105394113delACACACACACACACACACAT	ENST00000351513.2	-	9	1576				DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase						beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			acacacacacacacacacacacacacacatacacacagac	0.441																																						dbGAP											0			8																																								105463289	SO:0001627	intron_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1444-552ATGTGTGTGTGTGTGTGTGT>-	8.37:g.105394094_105394113delACACACACACACACACACAT		NA	NA	NA		NA	NA	NA	105463270	NA	NA	NA		Frame_Shift_Del	DEL	NULL	p.M46fs	ENST00000351513.2	37	c.155_136	CCDS6302.1	8																																																																																			-	NULL		0.441	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000220279	protein_coding	OTTHUMT00000380814.1	ACACACACACACACACACAT	NM_001385		105463289	-1	no_errors	ENST00000404280	ensembl	human	known	54_36p	frame_shift_del	DEL	0.001:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000	-
