#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
HTR3A	3359	broad.mit.edu	37	11	113860392	113860392	+	Silent	SNP	G	G	T			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr11:113860392G>T	ENST00000504030.2	+	9	1789	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000506841.2_Silent_p.V480V|HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000375498.2_Silent_p.V454V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGGGCTCCGTGCTGGACAAGC	0.592																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1342-1344)gtG>gtT		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						82.0	74.0	77.0					11																	113860392		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860392G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1344G>T	11.37:g.113860392G>T						HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000375498.2_Silent_p.V454V|HTR3A_ENST00000506841.2_Silent_p.V480V	p.V448V			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1789	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	448			HA-stretch.		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1344G>T																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		56	120	1	0	9.53978e-28	0.870114	1.25523e-27	56	120				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		4	3	0	0	0	0.248553	0	4	3				
CRELD1	78987	broad.mit.edu	37	3	9984805	9984805	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr3:9984805C>A	ENST00000383811.3	+	8	1461	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	CRELD1_ENST00000397170.3_Missense_Mutation_p.R288S|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Missense_Mutation_p.R288S|CRELD1_ENST00000452070.1_Missense_Mutation_p.R288S	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	288					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGGGCCAGGTCGCTGTAAGAA	0.617																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(862-864)Cgc>Agc		cysteine-rich with EGF-like domains 1							64.0	65.0	65.0					3																	9984805		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9984805C>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.862C>A	3.37:g.9984805C>A	ENSP00000373322:p.Arg288Ser					CRELD1_ENST00000397170.3_Missense_Mutation_p.R288S|CRELD1_ENST00000452070.1_Missense_Mutation_p.R288S|CRELD1_ENST00000326434.5_Missense_Mutation_p.R288S|CRELD1_ENST00000489674.1_3'UTR	p.R288S	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			8	1461	+			288					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.862C>A	CCDS2593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745929|3.745929	0.69418|0.69418	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.87103|.	-2.21;-2.21;-2.21;-2.21|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.40473|.	0.1118|.	N|N	0.11651|0.11651	0.15|0.15	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.85130|.	0.997;0.994|.	T|.	0.30679|.	-0.9970|.	9|.	.|.	.|.	.|.	.|.	15.0703|15.0703	0.72030|0.72030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	S|X	288|50	ENSP00000380355:R288S;ENSP00000373322:R288S;ENSP00000393643:R288S;ENSP00000321856:R288S|.	.|.	R|S	+|+	1|2	0|0	CRELD1|CRELD1	9959805|9959805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.691000|5.691000	0.68249|0.68249	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.617	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		4	155	1	0	0.217242	0.217242	0.246866	4	155				
NRG2	9542	broad.mit.edu	37	5	139260543	139260543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr5:139260543G>A	ENST00000361474.1	-	3	1113	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000541337.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	297	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGAACTGTAGTCGTGAG	0.612																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(889-891)Cag>Tag		neuregulin 2							111.0	106.0	108.0					5																	139260543		2203	4300	6503	SO:0001587	stop_gained	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139260543G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.889C>T	5.37:g.139260543G>A	ENSP00000354910:p.Gln297*					NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000361474.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297*	p.Q297*	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1118	-			327			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000361474.1	37	c.889C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539569	0.98345	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-12.1047	17.0103	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;297;297;297;297;94;297;297;205;297	.	ENSP00000289409:Q297X	Q	-	1	0	NRG2	139240727	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.674000	0.83992	2.455000	0.83008	0.561000	0.74099	CAG		0.612	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		5	104	0	0	0	0.278610	0	5	104				
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						ENST00000421239.2																			0											c.(931-933)Ggt>Agt		zinc finger protein 578							104.0	107.0	106.0					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser					CTD-3099C6.5_ENST00000599143.1_RNA	p.G311S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		4	141	0	0	0	0.217242	0	4	141				
POTEF	728378	broad.mit.edu	37	2	130877782	130877782	+	Missense_Mutation	SNP	A	A	G	rs552690286	byFrequency	TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:130877782A>G	ENST00000409914.2	-	3	706	c.307T>C	c.(307-309)Tgc>Cgc	p.C103R	POTEF_ENST00000360967.5_Missense_Mutation_p.C103R|POTEF_ENST00000361163.4_Missense_Mutation_p.C103R|POTEF_ENST00000357462.5_Missense_Mutation_p.C103R	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	103					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCAGCACCACTTG	0.617													.|||	3	0.000599042	0.0023	0.0	5008	,	,		21510	0.0		0.0	False		,,,				2504	0.0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(307-309)Tgc>Cgc		POTE ankyrin domain family, member F							80.0	104.0	96.0					2																	130877782		2203	4296	6499	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877782A>G	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.307T>C	2.37:g.130877782A>G	ENSP00000386786:p.Cys103Arg					POTEF_ENST00000361163.4_Missense_Mutation_p.C103R|POTEF_ENST00000409914.2_Missense_Mutation_p.C103R|POTEF_ENST00000360967.5_Missense_Mutation_p.C103R	p.C103R			A5A3E0	POTEF_HUMAN			1	400	-			103					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.307T>C	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	4.162	0.028472	0.08054	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.72;1.75	0.562	0.562	0.17290	.	.	.	.	.	T	0.65616	0.2708	L	0.36672	1.1	0.09310	N	0.999999	B	0.15141	0.012	B	0.01281	0.0	T	0.58335	-0.7654	8	0.87932	D	0	.	.	.	.	.	103	A5A3E0	POTEF_HUMAN	R	103	ENSP00000350052:C103R;ENSP00000386786:C103R;ENSP00000354232:C103R;ENSP00000355012:C103R	ENSP00000350052:C103R	C	-	1	0	POTEF	130594252	0.003000	0.15002	0.007000	0.13788	0.076000	0.17211	0.243000	0.18106	0.493000	0.27837	0.063000	0.15292	TGC		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		5	323	0	0	0	0.184627	0	5	323				
LEFTY1	10637	broad.mit.edu	37	1	226075322	226075322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr1:226075322C>A	ENST00000272134.5	-	3	593	c.514G>T	c.(514-516)Gag>Tag	p.E172*	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGCCGCTCTCGTGGACGGAC	0.711																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(514-516)Gag>Tag		left-right determination factor 1							15.0	19.0	18.0					1																	226075322		2139	4174	6313	SO:0001587	stop_gained	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075322C>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.514G>T	1.37:g.226075322C>A	ENSP00000272134:p.Glu172*					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L	p.E172*	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			3	593	-	Breast(184;0.197)		172					B2R7U0|Q53H67|Q5TE94	Nonsense_Mutation	SNP	ENST00000272134.5	37	c.514G>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.805047|4.805047	0.90623|0.90623	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	.|D	.|0.81821	.|-1.54	3.9|3.9	1.74|1.74	0.24563|0.24563	.|.	0.050310|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72145	.|0.3424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.25390	.|0.125	.|B	.|0.21546	.|0.035	.|T	.|0.74057	.|-0.3787	.|7	0.16420|0.87932	T|D	0.52|0	.|.	9.3242|9.3242	0.37982|0.37982	0.1628:0.6797:0.1575:0.0|0.1628:0.6797:0.1575:0.0	.|.	.|280	.|E7EUD8	.|.	X|L	172|280	.|ENSP00000414068:R280L	ENSP00000272134:E172X|ENSP00000414068:R280L	E|R	-|-	1|2	0|0	LEFTY1|RP4-559A3.7	224141945|224141945	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.762000|0.762000	0.43233|0.43233	3.131000|3.131000	0.50515|0.50515	0.733000|0.733000	0.32492|0.32492	0.313000|0.313000	0.20887|0.20887	GAG|CGA		0.711	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	63	1	0	0.115264	0.115264	0.137219	3	63				
MSH2	4436	broad.mit.edu	37	2	47656952	47656952	+	Missense_Mutation	SNP	G	G	T	rs376934727		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:47656952G>T	ENST00000233146.2	+	7	1371	c.1148G>T	c.(1147-1149)cGa>cTa	p.R383L	MSH2_ENST00000406134.1_Missense_Mutation_p.R383L|MSH2_ENST00000543555.1_Missense_Mutation_p.R317L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	383					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTCGTCGATTCCCAGAT	0.343			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1147-1149)cGa>cTa	Mismatch excision repair (MMR)	mutS homolog 2							89.0	86.0	87.0					2																	47656952		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47656952G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1148G>T	2.37:g.47656952G>T	ENSP00000233146:p.Arg383Leu					MSH2_ENST00000233146.2_Missense_Mutation_p.R383L|MSH2_ENST00000543555.1_Missense_Mutation_p.R317L	p.R383L			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	1210	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	383					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1148G>T	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.39|16.39	3.109520|3.109520	0.56398|0.56398	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000448533|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	.|D;D;D	.|0.90900	.|-2.75;-2.75;-2.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|DNA mismatch repair protein MutS, core (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93311|0.93311	0.7868|0.7868	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43607	.|0.629;0.812;0.526	.|B;B;P	.|0.48454	.|0.349;0.188;0.578	D|D	0.92618|0.92618	0.6105|0.6105	6|10	0.72032|0.44086	D|T	0.01|0.13	-0.1317|-0.1317	19.802|19.802	0.96511|0.96511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;383;383	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	Y|L	383|383;317;383;383;383;383;33;169	.|ENSP00000233146:R383L;ENSP00000442697:R317L;ENSP00000384199:R383L	ENSP00000415023:D383Y|ENSP00000233146:R383L	D|R	+|+	1|2	0|0	MSH2|MSH2	47510456|47510456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.923000|8.923000	0.92808|0.92808	2.687000|2.687000	0.91594|0.91594	0.651000|0.651000	0.88453|0.88453	GAT|CGA		0.343	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			37	74	1	0	9.58827e-17	0.870114	1.19853e-16	37	74				
PPP4C	5531	broad.mit.edu	37	16	30095000	30095000	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr16:30095000T>C	ENST00000279387.7	+	7	670	c.502T>C	c.(502-504)Tcc>Ccc	p.S168P	PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	168					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCTCCCCCTCCAT	0.622																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(502-504)Tcc>Ccc		protein phosphatase 4, catalytic subunit							73.0	70.0	71.0					16																	30095000		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30095000T>C		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.502T>C	16.37:g.30095000T>C	ENSP00000279387:p.Ser168Pro					PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P	p.S168P	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			7	670	+			168					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.502T>C	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504440	0.85176	.	.	ENSG00000149923	ENST00000279387	T	0.27720	1.65	5.9	5.9	0.94986	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80605	-0.1308	10	0.72032	D	0.01	-6.6671	15.3117	0.74039	0.0:0.0:0.0:1.0	.	168	P60510	PP4C_HUMAN	P	168	ENSP00000279387:S168P	ENSP00000279387:S168P	S	+	1	0	PPP4C	30002501	1.000000	0.71417	0.990000	0.47175	0.655000	0.38815	5.057000	0.64294	2.257000	0.74773	0.528000	0.53228	TCC		0.622	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		3	135	0	0	0	0.184627	0	3	135				
HIST1H2BC	8347	broad.mit.edu	37	6	26124113	26124113	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr6:26124113G>C	ENST00000314332.5	-	1	25	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	7					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGCGGGAGCAGACTTGGCTGG	0.507																																						ENST00000314332.5																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(19-21)tCt>tGt		histone cluster 1, H2bc							88.0	87.0	87.0					6																	26124113		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26124113G>C	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.20C>G	6.37:g.26124113G>C	ENSP00000321744:p.Ser7Cys					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C	p.S7C			P62807	H2B1C_HUMAN			1	25	-			7					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.20C>G	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	18.92	3.726581	0.69074	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Histone-fold (2);	.	.	.	.	T	0.13114	0.0318	.	.	.	0.40397	D	0.979609	B	0.25904	0.137	B	0.12156	0.007	T	0.01951	-1.1241	8	0.87932	D	0	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	7	P62807	H2B1C_HUMAN	C	7	ENSP00000321744:S7C;ENSP00000380180:S7C	ENSP00000321744:S7C	S	-	2	0	HIST1H2BC	26232092	1.000000	0.71417	0.961000	0.40146	0.857000	0.48899	6.186000	0.72026	2.879000	0.98667	0.650000	0.86243	TCT		0.507	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		54	77	0	0	0	0.870114	0	54	77				
ELFN2	114794	broad.mit.edu	37	22	37771091	37771091	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr22:37771091G>T	ENST00000402918.2	-	3	1269	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	162					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGCTGAGGCGGTTGGAGGAC	0.637																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(484-486)Cgc>Agc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							60.0	59.0	59.0					22																	37771091		2203	4298	6501	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771091G>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.484C>A	22.37:g.37771091G>T	ENSP00000385277:p.Arg162Ser					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.R162S	p.R162S	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1269	-	Melanoma(58;0.0574)		162					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.484C>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040640	0.55003	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.51574	0.7;0.7	4.52	4.52	0.55395	.	0.056499	0.64402	D	0.000003	T	0.58221	0.2107	L	0.53729	1.69	0.47994	D	0.999564	D	0.57257	0.979	P	0.58820	0.846	T	0.61559	-0.7038	10	0.66056	D	0.02	-27.1007	12.6929	0.56985	0.0:0.0:0.835:0.165	.	162	Q5R3F8	PPR29_HUMAN	S	162	ENSP00000300147:R162S;ENSP00000385277:R162S	ENSP00000300147:R162S	R	-	1	0	ELFN2	36101037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.693000	0.61753	2.233000	0.73108	0.514000	0.50259	CGC		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		65	105	1	0	3.83446e-41	0.870114	5.32563e-41	65	105				
SLC8A1	6546	broad.mit.edu	37	2	40656897	40656897	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:40656897G>A	ENST00000403092.1	-	2	557	c.524C>T	c.(523-525)gCt>gTt	p.A175V	SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	175					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTGAATGCAGCACTTCCCAC	0.463																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(523-525)gCt>gTt		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101.0	90.0	94.0					2																	40656897		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656897G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.524C>T	2.37:g.40656897G>A	ENSP00000384763:p.Ala175Val					SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A175V	p.A175V			P32418	NAC1_HUMAN			2	713	-			175					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.524C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200976	0.79015	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.96633	3.855	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.998;1.0;0.924;0.938	D;D;D;P;P	0.97110	1.0;0.995;1.0;0.9;0.866	D	0.90523	0.4490	10	0.72032	D	0.01	.	17.1057	0.86662	0.0:0.0:1.0:0.0	.	175;175;175;175;175	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	175	ENSP00000383886:A175V;ENSP00000440727:A175V;ENSP00000384763:A175V;ENSP00000385678:A175V;ENSP00000385188:A175V;ENSP00000385535:A175V;ENSP00000332931:A175V;ENSP00000384908:A175V;ENSP00000385811:A175V;ENSP00000443515:A175V	ENSP00000332931:A175V	A	-	2	0	SLC8A1	40510401	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.669000	0.98622	2.648000	0.89879	0.563000	0.77884	GCT		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	77	0	0	0	0.184627	0	3	77				
ACBD5	91452	broad.mit.edu	37	10	27529319	27529319	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr10:27529319G>A	ENST00000375888.1	-	1	168	c.104C>T	c.(103-105)gCg>gTg	p.A35V	ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.A37V|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	35					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTCGTGTCCGCCATCTCCAG	0.612																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(109-111)gCg>gTg		acyl-CoA binding domain containing 5							81.0	71.0	75.0					10																	27529319		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27529319G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.104C>T	10.37:g.27529319G>A	ENSP00000365049:p.Ala35Val					ACBD5_ENST00000375888.1_Missense_Mutation_p.A35V|ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000476758.1_5'UTR	p.A37V	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			2	236	-			35					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	G	29.7	5.027375	0.93518	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.32753	2.29;1.78;2.29;1.98;1.44	4.87	4.87	0.63330	.	0.104266	0.64402	D	0.000003	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.58331	0.837;0.787	T	0.28170	-1.0052	10	0.51188	T	0.08	-4.7614	18.3808	0.90451	0.0:0.0:1.0:0.0	.	37;35	Q5T8D3-3;B7Z2R7	.;.	V	32;37;2;35;44;2	ENSP00000379568:A37V;ENSP00000365070:A2V;ENSP00000365049:A35V;ENSP00000401591:A44V;ENSP00000393398:A2V	ENSP00000365049:A35V	A	-	2	0	ACBD5	27569325	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	3.955000	0.56715	2.402000	0.81655	0.467000	0.42956	GCG		0.612	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		4	120	0	0	0	0.248553	0	4	120				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	70	0	0	0	0.834066	0	37	70				
ESX1	80712	broad.mit.edu	37	X	103495055	103495055	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chrX:103495055G>A	ENST00000372588.4	-	4	1158	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	359	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCCGGGTGGCAGAGGC	0.756																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(1075-1077)Ccc>Tcc		ESX homeobox 1							5.0	6.0	6.0					X																	103495055		1382	2875	4257	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495055G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1075C>T	X.37:g.103495055G>A	ENSP00000361669:p.Pro359Ser						p.P359S	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	1158	-			359			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.1075C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412113	0.25465	.	.	ENSG00000123576	ENST00000372588	T	0.76448	-1.02	2.3	2.3	0.28687	.	.	.	.	.	T	0.82208	0.4987	L	0.61218	1.895	0.09310	N	1	D	0.59357	0.985	P	0.57776	0.827	T	0.70916	-0.4742	9	0.87932	D	0	.	9.8512	0.41057	0.0:0.0:1.0:0.0	.	359	Q8N693	ESX1_HUMAN	S	359	ENSP00000361669:P359S	ENSP00000361669:P359S	P	-	1	0	ESX1	103381711	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.488000	0.22371	1.191000	0.43056	0.190000	0.17370	CCC		0.756	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		5	9	0	0	0	0.217242	0	5	9				
PODXL	5420	broad.mit.edu	37	7	131195717	131195717	+	Silent	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:131195717G>A	ENST00000378555.3	-	2	823	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Silent_p.P194P|PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000322985.9_Silent_p.P192P			O00592	PODXL_HUMAN	podocalyxin-like	192	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCGTCGAAGTGGGTTGTCGGG	0.542																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(580-582)ccC>ccT		podocalyxin-like							219.0	190.0	200.0					7																	131195717		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195717G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.576C>T	7.37:g.131195717G>A						PODXL_ENST00000322985.9_Silent_p.P192P|PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000378555.3_Silent_p.P192P	p.P194P	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	839	-	Melanoma(18;0.162)		192		S -> L (in dbSNP:rs12670788).	Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.582C>T	CCDS34755.1																																																																																				0.542	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		37	77	0	0	0	0.827153	0	37	77				
RP11-431K24.1	0	broad.mit.edu	37	1	8126738	8126740	+	lincRNA	DEL	CTC	CTC	-			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr1:8126738_8126740delCTC	ENST00000445300.1	+	0	815																											cctcccttttctcctcctcctcc	0.552																																						ENST00000445300.1																			0																																																			0							g.chr1:8126738_8126740delCTC																													1.37:g.8126747_8126749delCTC														0	815	+									RNA	DEL	ENST00000445300.1	37																																																																																						0.552	RP11-431K24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000004926.1			2	4						2	4	---	---	---	---
RP3-368B9.2	0	broad.mit.edu	37	4	3634997	3634998	+	lincRNA	INS	-	-	CCCTC	rs375726007		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr4:3634997_3634998insCCCTC	ENST00000505702.1	+	0	218																											TCCTCCCTGGtccctcccctcc	0.604																																						ENST00000505702.1																			0																																																			0							g.chr4:3634997_3634998insCCCTC																													4.37:g.3635003_3635007dupCCCTC														0	218	+									RNA	INS	ENST00000505702.1	37																																																																																						0.604	RP3-368B9.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000358757.1			5	9						5	9	---	---	---	---
LOC101927460	101927460	broad.mit.edu	37	5	124935566	124935567	+	lincRNA	INS	-	-	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr5:124935566_124935567insA	ENST00000564199.1	+	0	324																											ggcagaggcagaaaaaaaaatt	0.431																																						ENST00000564199.1																			0																																																			0							g.chr5:124935566_124935567insA																													5.37:g.124935575_124935575dupA														0	324	+									RNA	INS	ENST00000564199.1	37																																																																																						0.431	RP11-756H20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000372369.2			2	4						2	4	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755179	45755180	+	RNA	DEL	CA	CA	-			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr15:45755179_45755180delCA	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA																							ccaccaccaccacaccaccacc	0.604																																						ENST00000560077.1																			0																																																			0							g.chr15:45755179_45755180delCA																													15.37:g.45755181_45755182delCA						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.604	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		7	438						7	438	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000509083.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site|TMEM199_ENST00000395404.3_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		7	7						7	7	---	---	---	---
LIF	3976	broad.mit.edu	37	22	30642419	30642421	+	Intron	DEL	GAG	GAG	-			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr22:30642419_30642421delGAG	ENST00000249075.3	-	1	175				LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor						blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			gggggaagaagaggaggaggagg	0.69																																						ENST00000593843.1																			0											c.(235-237)del																																						SO:0001627	intron_variant	0							g.chr22:30642419_30642421delGAG		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.19+244CTC>-	22.37:g.30642428_30642430delGAG						LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron	p.E83del							2	235_237	+								B2RCW7|B5MC23|Q52LZ2	In_Frame_Del	DEL	ENST00000249075.3	37	c.235_237delGAG	CCDS13872.1																																																																																				0.690	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		3	6						3	6	---	---	---	---
RP6-1O2.1	0	broad.mit.edu	37	X	10327528	10327529	+	lincRNA	DEL	GT	GT	-	rs3049021|rs397836769|rs560412205|rs564706753		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chrX:10327528_10327529delGT	ENST00000454113.1	+	0	553																											CTAGCCCAGCgtgtgtgtgtgt	0.406																																						ENST00000454113.1																			0																																																			0							g.chrX:10327528_10327529delGT																													X.37:g.10327538_10327539delGT														0	553	+									RNA	DEL	ENST00000454113.1	37																																																																																						0.406	RP6-1O2.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000055733.1			2	4						2	4	---	---	---	---
