#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PCNT	5116	broad.mit.edu	37	21	47845774	47845774	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr21:47845774C>T	ENST00000359568.5	+	33	7316	c.7209C>T	c.(7207-7209)agC>agT	p.S2403S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2403					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGACGAGAGCCACCAGATCC	0.637																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7207-7209)agC>agT		pericentrin							82.0	80.0	81.0					21																	47845774		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845774C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7209C>T	21.37:g.47845774C>T			Somatic				PCNT_ENST00000480896.1_3'UTR	p.S2403S	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			33	7316	+	Breast(49;0.112)		2403					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7209C>T	CCDS33592.1																																																																																				0.637	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	88	0	0	0	1	0	4	88				
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						209.0	201.0	204.0					13																	49281339		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln		Somatic					p.L129Q	NM_020377.2	NP_065110.1	WXS	Illumina GAIIx	Phase_I	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	CYSLTR2	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			83	115	0	0	0	1	0	83	115				
DTL	51514	broad.mit.edu	37	1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000542077.1_Missense_Mutation_p.V85I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	127					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(379-381)Gta>Ata		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							210.0	204.0	206.0					1																	212220678		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212220678G>A	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.379G>A	1.37:g.212220678G>A	ENSP00000355958:p.Val127Ile		Somatic				DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	p.V127I	NM_016448.2	NP_057532.2	WXS	Illumina GAIIx	Phase_I	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	5	693	+			127					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.379G>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947507	0.73672	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.19105	2.17;2.17	5.18	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.25426	0.745	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.56514	0.8;0.636	T	0.02244	-1.1189	10	0.44086	T	0.13	-16.7073	14.264	0.66104	0.0722:0.0:0.9278:0.0	.	85;127	F5GZ90;Q9NZJ0	.;DTL_HUMAN	I	127;85	ENSP00000355958:V127I;ENSP00000443870:V85I	ENSP00000355958:V127I	V	+	1	0	DTL	210287301	1.000000	0.71417	0.719000	0.30619	0.586000	0.36452	7.058000	0.76676	1.342000	0.45619	-0.119000	0.15052	GTA		0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		5	165	0	0	0	1	0	5	165				
CEP164	22897	broad.mit.edu	37	11	117267963	117267963	+	Silent	SNP	G	G	A	rs149964584		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:117267963G>A	ENST00000278935.3	+	27	3582	c.3435G>A	c.(3433-3435)gcG>gcA	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18970	0.001		0.0	False		,,,				2504	0.0					ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3433-3435)gcG>gcA		centrosomal protein 164kDa							40.0	38.0	39.0					11																	117267963		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117267963G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3435G>A	11.37:g.117267963G>A			Somatic				CEP164_ENST00000533706.1_3'UTR	p.A1145A	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	27	3582	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1145					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.3435G>A	CCDS31683.1																																																																																				0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		3	36	0	0	0	1	0	3	36				
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:76379755G>A	ENST00000321797.8	+	7	1077	c.356G>A	c.(355-357)cGc>cAc	p.R119H	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Missense_Mutation_p.R404H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	404	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1210-1212)cGc>cAc		LIM domain 7							322.0	289.0	299.0					13																	76379755		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379755G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.356G>A	13.37:g.76379755G>A	ENSP00000317802:p.Arg119His		Somatic				LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H	p.R404H			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2471	+		Breast(118;0.0992)	404					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1211G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668026	0.88348	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.78763	-0.2077	10	0.87932	D	0	-11.2894	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119	E9PLH4	.	H	404;404;119;119;119	ENSP00000349571:R404H;ENSP00000366757:R404H;ENSP00000317802:R119H;ENSP00000433352:R119H;ENSP00000432269:R119H	ENSP00000317802:R119H	R	+	2	0	LMO7	75277756	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.765000	0.91724	2.814000	0.96858	0.563000	0.77884	CGC		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		4	202	0	0	0	1	0	4	202				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A			Somatic				NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	41	0	0	0	1	0	4	41				
BCAS1	8537	broad.mit.edu	37	20	52570145	52570145	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr20:52570145G>C	ENST00000395961.3	-	11	1672	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	502						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTGACTTCTTGTCCTTCGAGG	0.532																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1504-1506)gaC>gaG		breast carcinoma amplified sequence 1							246.0	189.0	208.0					20																	52570145		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570145G>C	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1506C>G	20.37:g.52570145G>C	ENSP00000379290:p.Asp502Glu		Somatic				BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	p.D502E	NM_003657.2	NP_003648.2	WXS	Illumina GAIIx	Phase_I	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1672	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		502					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1506C>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413451|3.413451	0.62511|0.62511	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10763|.	2.84;2.84;2.84;2.84;2.84|.	5.17|5.17	1.85|1.85	0.25348|0.25348	.|.	0.355510|.	0.27181|.	N|.	0.020555|.	T|T	0.69513|0.69513	0.3119|0.3119	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;D;P;D;D;D|.	0.89917|.	0.369;0.996;0.715;0.996;1.0;1.0|.	B;D;B;D;D;D|.	0.83275|.	0.242;0.99;0.242;0.99;0.996;0.996|.	T|T	0.68542|0.68542	-0.5381|-0.5381	10|5	0.06365|.	T|.	0.9|.	-11.4327|-11.4327	13.9608|13.9608	0.64177|0.64177	0.0:0.4399:0.5601:0.0|0.0:0.4399:0.5601:0.0	.|.	502;168;511;424;502;502|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	E|R	373;511;302;502;424;168|165	ENSP00000396361:D373E;ENSP00000360495:D511E;ENSP00000379290:D502E;ENSP00000360490:D424E;ENSP00000409956:D168E|.	ENSP00000360490:D424E|.	D|T	-|-	3|2	2|0	BCAS1|BCAS1	52003552|52003552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	3.133000|3.133000	0.50531|0.50531	0.507000|0.507000	0.28148|0.28148	0.555000|0.555000	0.69702|0.69702	GAC|ACA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		33	42	0	0	0	1	0	33	42				
PLXND1	23129	broad.mit.edu	37	3	129303286	129303286	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:129303286C>A	ENST00000324093.4	-	6	2149	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Q657H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	657					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTAGGCAATCTGGTGACCAA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1969-1971)caG>caT		plexin D1							73.0	68.0	70.0					3																	129303286		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303286C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1971G>T	3.37:g.129303286C>A	ENSP00000317128:p.Gln657His		Somatic				PLXND1_ENST00000324093.4_Missense_Mutation_p.Q657H	p.Q657H			WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			6	2149	-			657					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1971G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787986	0.49997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.36520	1.29;1.25	4.77	3.89	0.44902	.	0.070478	0.56097	D	0.000021	T	0.29355	0.0731	L	0.50333	1.59	0.49915	D	0.999839	B	0.20671	0.047	B	0.17433	0.018	T	0.09314	-1.0680	10	0.39692	T	0.17	.	6.9542	0.24562	0.0:0.7501:0.0:0.2499	.	657	Q9Y4D7	PLXD1_HUMAN	H	657	ENSP00000317128:Q657H;ENSP00000376931:Q657H	ENSP00000317128:Q657H	Q	-	3	2	PLXND1	130785976	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.383000	0.20651	1.134000	0.42165	0.561000	0.74099	CAG		0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		4	39	1	0	0.00909568	1	0.00909568	4	39				
ASIC2	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597																																						ENST00000359872.6																			0											c.(370-372)ccG>ccA		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						81.0	92.0	88.0					17																	32483180		2161	4264	6425	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483180C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T			Somatic					p.P124P	NM_001094.4	NP_001085.2	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			1	1133	-			124					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.372G>A	CCDS42296.1																																																																																				0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		31	47	0	0	0	1	0	31	47				
SPEN	23013	broad.mit.edu	37	1	16259500	16259500	+	Silent	SNP	G	G	A	rs374329428		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:16259500G>A	ENST00000375759.3	+	11	6969	c.6765G>A	c.(6763-6765)gcG>gcA	p.A2255A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2255	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACAGGCGCTGCAGCCTT	0.537																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6763-6765)gcG>gcA		spen family transcriptional repressor		A		1,4405	2.1+/-5.4	0,1,2202	83.0	90.0	88.0		6765	0.7	0.0	1		88	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2255/3665	16259500	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259500G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6765G>A	1.37:g.16259500G>A			Somatic					p.A2255A	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6969	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2255			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.6765G>A	CCDS164.1																																																																																				0.537	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	129	0	0	0	1	0	4	129				
NACA	4666	broad.mit.edu	37	12	57113149	57113149	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr12:57113149G>A	ENST00000454682.1	-	3	2446	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACTAAGGTAGCCAGAGGAGC	0.512			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2164-2166)gCt>gTt		nascent polypeptide-associated complex alpha subunit							29.0	27.0	28.0					12																	57113149		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113149G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2165C>T	12.37:g.57113149G>A	ENSP00000403817:p.Ala722Val		Somatic				NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.A722V	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	2446	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.2165C>T		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440380	0.25900	.	.	ENSG00000196531	ENST00000454682	T	0.52983	0.64	3.33	3.33	0.38152	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.10613	-1.0622	7	.	.	.	.	10.531	0.44977	0.0:0.0:1.0:0.0	.	722	E9PAV3	.	V	722	ENSP00000403817:A722V	.	A	-	2	0	NACA	55399416	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	0.069000	0.14552	1.578000	0.49821	0.449000	0.29647	GCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	6	0	0	0	1	0	9	6				
CFAP57	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	rs372200685		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						ENST00000372492.4																			1	Substitution - Missense(1)	p.R400H(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc		WD repeat domain 65		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180.0	153.0	162.0		1199,1199,1199	5.8	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43663300G>A																												ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His		Somatic				WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	p.R400H	NM_001195831.2	NP_001182760.2	WXS	Illumina GAIIx	Phase_I	Q96MR6	WDR65_HUMAN			7	1523	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	WDR65	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			4	113	0	0	0	1	0	4	113				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	50	0	0	0	1	0	3	50				
ETS1	2113	broad.mit.edu	37	11	128360370	128360370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:128360370G>A	ENST00000319397.6	-	2	493	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*|ETS1_ENST00000392668.4_Nonsense_Mutation_p.R106*|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	62	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R106*(1)|p.R62*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATCCCCAGTCGTTGCTGTTCT	0.438																																						ENST00000392668.4																			2	Substitution - Nonsense(2)	p.R106*(1)|p.R62*(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(316-318)Cga>Tga		v-ets avian erythroblastosis virus E26 oncogene homolog 1							137.0	125.0	129.0					11																	128360370		2201	4297	6498	SO:0001587	stop_gained	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360370G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.184C>T	11.37:g.128360370G>A	ENSP00000324578:p.Arg62*		Somatic				ETS1_ENST00000319397.6_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*	p.R106*	NM_001143820.1	NP_001137292.1	WXS	Illumina GAIIx	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	400	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)				PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Nonsense_Mutation	SNP	ENST00000319397.6	37	c.316C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	38	7.156526	0.98103	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	.	.	.	5.65	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2744	0.73732	0.0:0.0:0.4534:0.5466	.	.	.	.	X	62;106;62;62;62	.	ENSP00000324578:R62X	R	-	1	2	ETS1	127865580	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	1.649000	0.37281	-0.047000	0.13423	0.563000	0.77884	CGA		0.438	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		15	86	0	0	0	1	0	15	86				
AMER3	205147	broad.mit.edu	37	2	131520173	131520173	+	Silent	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr2:131520173G>A	ENST00000423981.1	+	2	638	c.528G>A	c.(526-528)tcG>tcA	p.S176S	AMER3_ENST00000321420.4_Silent_p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	176					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACTTGGCCTCGCTGGCGGCCG	0.642																																						ENST00000423981.1																			0											c.(526-528)tcG>tcA		APC membrane recruitment protein 3							45.0	50.0	49.0					2																	131520173		2201	4294	6495	SO:0001819	synonymous_variant	205147							g.chr2:131520173G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.528G>A	2.37:g.131520173G>A			Somatic				AMER3_ENST00000321420.4_Silent_p.S176S	p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	WXS	Illumina GAIIx	Phase_I					2	638	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.528G>A	CCDS2164.1																																																																																				0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		22	38	0	0	0	1	0	22	38				
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs397791237|rs367811358|rs561097279|rs61476146	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629														1693	0.338059	0.4024	0.3689	5008	,	,		20008	0.1716		0.3728	False		,,,				2504	0.365					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17723476_17723477insCA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17723477_17723478dupCA			Somatic								WXS	Illumina GAIIx	Phase_I	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1669	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	INS	ENST00000434762.2	37																																																																																						0.629	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	4						4	4	---	---	---	---
FOXD3	27022	broad.mit.edu	37	1	63790123	63790123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:63790123delC	ENST00000371116.2	+	1	1394	c.1394delC	c.(1393-1395)gccfs	p.A471fs	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	471	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						tcggccgccgccgctgctgcg	0.697																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2																			0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1393-1395)gccfs		forkhead box D3							2.0	2.0	2.0					1																	63790123		1146	2571	3717	SO:0001589	frameshift_variant	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63790123delC	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.1394delC	1.37:g.63790123delC	ENSP00000360157:p.Ala471fs		Somatic					p.A471fs	NM_012183.2	NP_036315.1	WXS	Illumina GAIIx	Phase_I	Q9UJU5	FOXD3_HUMAN			1	1394	+			471			Poly-Ala.		Q9BYM2|Q9UDD1	Frame_Shift_Del	DEL	ENST00000371116.2	37	c.1394delC	CCDS624.1																																																																																				0.697	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			2	4						2	4	---	---	---	---
HSD17B7	51478	broad.mit.edu	37	1	162773243	162773243	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:162773243G>C	ENST00000254521.3	+	6	720	c.665G>C	c.(664-666)tGt>tCt	p.C222S	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	222					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AATGTGGCCTGTCCAGGTACA	0.413																																						ENST00000254521.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(664-666)tGt>tCt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						84.0	75.0	78.0					1																	162773243		2203	4297	6500	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162773243G>C	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.665G>C	1.37:g.162773243G>C	ENSP00000254521:p.Cys222Ser		Somatic				HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	p.C222S	NM_016371.2	NP_057455.1	WXS	Illumina GAIIx	Phase_I	P56937	DHB7_HUMAN			6	720	+	all_hematologic(112;0.115)		222					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.665G>C	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460799	0.26248	.	.	ENSG00000132196	ENST00000254521	T	0.76839	-1.05	4.68	4.68	0.58851	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.80183	2.485	0.38606	D	0.950770	D	0.89917	1.0	D	0.77004	0.989	T	0.80605	-0.1308	9	0.17369	T	0.5	-18.6451	14.7956	0.69876	0.0:0.0:1.0:0.0	.	222	P56937	DHB7_HUMAN	S	222	ENSP00000254521:C222S	ENSP00000254521:C222S	C	+	2	0	HSD17B7	161039867	1.000000	0.71417	0.943000	0.38184	0.088000	0.18126	9.090000	0.94144	2.578000	0.87016	0.650000	0.86243	TGT		0.413	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		21	42	0	0	0	1	0	21	42				
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)ctgdel		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del		Somatic				ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			WXS	Illumina GAIIx	Phase_I	O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	58						7	58	---	---	---	---
LOC101927571	101927571	broad.mit.edu	37	18	20480579	20480579	+	RNA	DEL	T	T	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr18:20480579delT	ENST00000583086.1	-	0	84				RP11-739L10.1_ENST00000578831.1_RNA|snoU13_ENST00000459133.1_RNA																							TAGCAGGCTGTGGATGGAGTG	0.463																																						ENST00000583086.1																			0																																																			0							g.chr18:20480579delT																													18.37:g.20480579delT			Somatic				RP11-739L10.1_ENST00000578831.1_RNA				WXS	Illumina GAIIx	Phase_I					0	84	-									RNA	DEL	ENST00000583086.1	37																																																																																						0.463	RP11-370A5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000446416.1			2	4						2	4	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggcgac>ggc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del		Somatic				POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	p.D17del	NM_007195.2	NP_009126.2	WXS	Illumina GAIIx	Phase_I	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			17					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		4	4						4	4	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1122978	1122978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr19:1122978delG	ENST00000361757.3	-	8	932	c.695delC	c.(694-696)ccafs	p.P232fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	232					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGATGTCTGGGGGTGGGAC	0.662																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(694-696)ccafs		strawberry notch homolog 2 (Drosophila)							48.0	50.0	49.0					19																	1122978		2172	4259	6431	SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1122978delG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.695delC	19.37:g.1122978delG	ENSP00000354733:p.Pro232fs		Somatic				SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	p.P232fs	NM_014963.2	NP_055778.2	WXS	Illumina GAIIx	Phase_I	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	932	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	232					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.695delC	CCDS45894.1																																																																																				0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		3	6						3	6	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9452027	9452028	+	Intron	DEL	CT	CT	-	rs55837495|rs201124569|rs398059552	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr19:9452027_9452028delCT	ENST00000393883.2	+	5	891				ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_Frame_Shift_Del_p.T137fs|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGACAAACACTCTAAACATCC	0.347														2623	0.523762	0.5166	0.5317	5008	,	,		18993	0.4514		0.5606	False		,,,				2504	0.5644					ENST00000592504.1																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(409-411)actfs		zinc finger protein 559																																				SO:0001627	intron_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452027_9452028delCT	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.243+167CT>-	19.37:g.9452029_9452030delCT			Somatic				ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000541595.2_Intron	p.T137fs			WXS	Illumina GAIIx	Phase_I	Q9BR84	ZN559_HUMAN			6	665_666	+			0					K7EMG6	Frame_Shift_Del	DEL	ENST00000393883.2	37	c.410_411delCT	CCDS12211.1																																																																																				0.347	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		5	2						5	2	---	---	---	---
