#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CES1P1	51716	broad.mit.edu	37	16	55794587	55794587	+	RNA	SNP	G	G	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:55794587G>T	ENST00000571348.1	+	0	77					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GGCCACTCTCGCTGCTTCCGC	0.597																																						ENST00000571348.1																			0																																																			0							g.chr16:55794587G>T	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55794587G>T								NR_003276.2						0	77	+								A2RRL8|B9ZVS2	RNA	SNP	ENST00000571348.1	37																																																																																						0.597	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		3	26	1	0	1	1	1	3	26				
ANKRD20A8P	729171	broad.mit.edu	37	2	95519360	95519360	+	RNA	SNP	G	G	T	rs77762483		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr2:95519360G>T	ENST00000432432.2	-	0	353					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.Q82K(2)									GTGACCACTTGCACATGGCCA	0.393																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.Q82K(2)	endometrium(1)|central_nervous_system(1)																																																0							g.chr2:95519360G>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95519360G>T								NR_040113.1						0	353	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.393	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	170	1	0	1.08611e-07	1	1.21644e-07	8	170				
AJAP1	55966	broad.mit.edu	37	1	4832438	4832438	+	Missense_Mutation	SNP	G	G	A	rs566504703		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:4832438G>A	ENST00000378191.4	+	4	1397	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	339	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCTCGGCCCGGGTGCCCAGC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14846	0.0		0.0	False		,,,				2504	0.0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1015-1017)cGg>cAg		adherens junctions associated protein 1							77.0	64.0	69.0					1																	4832438		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832438G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1016G>A	1.37:g.4832438G>A	ENSP00000367433:p.Arg339Gln					AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q	p.R339Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1397	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	339			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1016G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230825	0.79688	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	5.12	5.12	0.69794	.	0.119960	0.56097	D	0.000025	T	0.51227	0.1662	N	0.12182	0.205	0.48830	D	0.999711	D	0.89917	1.0	D	0.69307	0.963	T	0.59516	-0.7440	10	0.56958	D	0.05	-28.4723	17.1126	0.86680	0.0:0.0:1.0:0.0	.	339	Q9UKB5	AJAP1_HUMAN	Q	339	ENSP00000367432:R339Q;ENSP00000367433:R339Q	ENSP00000367432:R339Q	R	+	2	0	AJAP1	4732298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.354000	0.79424	2.380000	0.81148	0.561000	0.74099	CGG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	43	0	0	0	1	0	4	43				
WDR11	55717	broad.mit.edu	37	10	122612090	122612090	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr10:122612090T>G	ENST00000263461.6	+	2	387	c.141T>G	c.(139-141)gaT>gaG	p.D47E	WDR11-AS1_ENST00000598981.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	452					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TAGTGATTGATTCCATTACTG	0.368																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(139-141)gaT>gaG		WD repeat domain 11							172.0	159.0	163.0					10																	122612090		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122612090T>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.141T>G	10.37:g.122612090T>G	ENSP00000263461:p.Asp47Glu						p.D47E	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			2	387	+			47					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.141T>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575395	0.86645	.	.	ENSG00000120008	ENST00000263461	T	0.37752	1.18	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64170	1.965	0.58432	D	0.999996	D	0.58970	0.984	D	0.70016	0.967	T	0.56044	-0.8044	10	0.52906	T	0.07	-29.8477	11.97	0.53058	0.0:0.0694:0.0:0.9306	.	47	Q9BZH6	WDR11_HUMAN	E	47	ENSP00000263461:D47E	ENSP00000263461:D47E	D	+	3	2	WDR11	122602080	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.320000	0.65841	2.191000	0.70037	0.528000	0.53228	GAT		0.368	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			15	22	0	0	0	1	0	15	22				
UVSSA	57654	broad.mit.edu	37	4	1374010	1374010	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr4:1374010C>T	ENST00000389851.4	+	11	2191	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	582					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCGCCAAGACCGGCTGAAGGT	0.716																																						ENST00000389851.4																			0											c.(1744-1746)Cgg>Tgg		UV-stimulated scaffold protein A							27.0	29.0	28.0					4																	1374010		2199	4298	6497	SO:0001583	missense	57654							g.chr4:1374010C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1744C>T	4.37:g.1374010C>T	ENSP00000374501:p.Arg582Trp					UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W	p.R582W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			11	2191	+			582					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1744C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996758	0.54147	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.50813	1.23;1.23;1.23;0.73;0.73	4.87	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.84219	2.685	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.73892	-0.3839	10	0.87932	D	0	.	12.0139	0.53303	0.3757:0.6243:0.0:0.0	.	582	Q2YD98	K1530_HUMAN	W	133;582;582;582;133;133	ENSP00000425130:R582W;ENSP00000374501:R582W;ENSP00000421741:R582W;ENSP00000423340:R133W;ENSP00000427701:R133W	ENSP00000296312:R133W	R	+	1	2	KIAA1530	1364010	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	1.178000	0.31981	2.238000	0.73509	0.561000	0.74099	CGG		0.716	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	23	0	0	0	1	0	3	23				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000543101.1_5'Flank|ERCC8_ENST00000426742.2_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000265038.5_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	18	0	0	0	1	0	3	18				
TBXA2R	6915	broad.mit.edu	37	19	3600480	3600480	+	Silent	SNP	G	G	A	rs201810680		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr19:3600480G>A	ENST00000375190.4	-	2	546	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TBXA2R_ENST00000411851.3_Silent_p.G51G|TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	51					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTGCCGCGCGCCCGCCAGCA	0.706																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(151-153)ggC>ggT		thromboxane A2 receptor	Ridogrel(DB01207)						18.0	29.0	25.0					19																	3600480		2119	4193	6312	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600480G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.153C>T	19.37:g.3600480G>A						TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000411851.3_Silent_p.G51G	p.G51G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	546	-		Hepatocellular(1079;0.137)	51					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.153C>T	CCDS42467.1																																																																																				0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			7	19	0	0	0	1	0	7	19				
POU2F3	25833	broad.mit.edu	37	11	120169033	120169033	+	Silent	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr11:120169033C>T	ENST00000543440.2	+	4	342	c.192C>T	c.(190-192)caC>caT	p.H64H	POU2F3_ENST00000260264.4_Silent_p.H66H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	64					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCCATGCCACCTGAGTCAAG	0.537																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(196-198)caC>caT		POU class 2 homeobox 3							162.0	157.0	159.0					11																	120169033		2203	4300	6503	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169033C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.192C>T	11.37:g.120169033C>T						POU2F3_ENST00000543440.2_Silent_p.H64H	p.H66H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	232	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	64					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.198C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801285	0.31869	.	.	ENSG00000137709	ENST00000533620	D	0.84070	-1.8	4.3	3.38	0.38709	.	.	.	.	.	T	0.77280	0.4107	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.74526	-0.3636	8	0.87932	D	0	.	11.2422	0.48977	0.0:0.9104:0.0:0.0896	.	3	E9PIN6	.	S	3	ENSP00000435738:P3S	ENSP00000435738:P3S	P	+	1	0	POU2F3	119674243	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.653000	0.61462	1.022000	0.39626	-0.251000	0.11542	CCT		0.537	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			61	151	0	0	0	1	0	61	151				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000564451.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																0							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T						TUBB8P7_ENST00000567960.1_RNA								0	1693	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	110	0	0	0	1	0	6	110				
DPP8	54878	broad.mit.edu	37	15	65743407	65743407	+	Missense_Mutation	SNP	T	T	G	rs201715249		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr15:65743407T>G	ENST00000341861.5	-	19	4084	c.2504A>C	c.(2503-2505)aAt>aCt	p.N835T	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.N662T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	835					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGGACATTCTCATCCAG	0.358																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2503-2505)aAt>aCt		dipeptidyl-peptidase 8							135.0	145.0	141.0					15																	65743407		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65743407T>G	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2504A>C	15.37:g.65743407T>G	ENSP00000339208:p.Asn835Thr					DPP8_ENST00000339244.5_Missense_Mutation_p.N662T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T|DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000560048.2_5'UTR	p.N835T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			19	4084	-			835					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.2504A>C	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722331	0.68959	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.89163	3.01	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.987;1.0;1.0	T	0.73751	-0.3884	10	0.87932	D	0	-23.307	14.4796	0.67573	0.0:0.0:0.0:1.0	.	786;819;719;784;835	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	T	835;719;819;784;786;662	ENSP00000339208:N835T;ENSP00000351817:N719T;ENSP00000300141:N819T;ENSP00000318111:N784T;ENSP00000316373:N786T;ENSP00000341230:N662T	ENSP00000300141:N819T	N	-	2	0	DPP8	63530460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.034000	0.88864	2.009000	0.58944	0.528000	0.53228	AAT		0.358	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		37	78	0	0	0	1	0	37	78				
IGHV3-9	28451	broad.mit.edu	37	14	106552349	106552349	+	RNA	SNP	G	G	C			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr14:106552349G>C	ENST00000390600.2	-	0	369									immunoglobulin heavy variable 3-9																		CAGATACAGGGAGTTCTTGGC	0.502																																						ENST00000390600.2																			0																				162.0	124.0	137.0					14																	106552349		1905	3526	5431			0							g.chr14:106552349G>C	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552349G>C														0	369	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.502	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		75	140	0	0	0	1	0	75	140				
TBC1D3P2	440452	broad.mit.edu	37	17	60344525	60344525	+	RNA	SNP	G	G	A	rs72488592	byFrequency	TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr17:60344525G>A	ENST00000581291.1	-	0	979									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TTTTGTTATCGGCATGAACGC	0.607													.|||	1572	0.313898	0.0219	0.4164	5008	,	,		19689	0.6696		0.2793	False		,,,				2504	0.3047					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60344525G>A			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344525G>A														0	979	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.607	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		7	175	0	0	0	1	0	7	175				
GNAO1	2775	broad.mit.edu	37	16	56309933	56309933	+	Silent	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:56309933C>T	ENST00000262493.6	+	3	1098	c.252C>T	c.(250-252)atC>atT	p.I84I	GNAO1_ENST00000262494.7_Silent_p.I84I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	84					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGGCAGCCATCGTCCGGGCCA	0.502																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(250-252)atC>atT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							107.0	88.0	95.0					16																	56309933		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56309933C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.252C>T	16.37:g.56309933C>T						GNAO1_ENST00000262493.6_Silent_p.I84I	p.I84I	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			3	512	+		all_neural(199;0.159)	84					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.252C>T	CCDS10756.1																																																																																				0.502	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		12	44	0	0	0	1	0	12	44				
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(91-102)cgg>c		chitobiase, di-N-acetyl-				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALR31del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	140_148	-			31					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		5	7						5	7	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	4						3	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	5						3	5	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-	rs567381624	byFrequency	TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GCTTTTGGGGAAAAAAAAAAG	0.542																																						ENST00000480805.1																			0																																																			0							g.chr10:81680656delA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680656delA								NR_002724.2						0	723	+									RNA	DEL	ENST00000480805.1	37																																																																																						0.542	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			2	4						2	4	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr14:22892202delA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA					T cell receptor delta variable 2																		ctaaaaatacaaaaaaaaaaa	0.547																																						ENST00000514473.2																			0																																																			0							g.chr14:22892202delA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892202delA						AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA								0	225	-									RNA	DEL	ENST00000390469.2	37																																																																																						0.547	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		4	6						4	6	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948159_38948160delTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	224						7	224	---	---	---	---
