#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
NOTCH4	4855	broad.mit.edu	37	6	32184732	32184732	+	Silent	SNP	A	A	G			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr6:32184732A>G	ENST00000375023.3	-	11	1989	c.1851T>C	c.(1849-1851)tcT>tcC	p.S617S	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	617	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGTGAAACCAGAGGGGCAGA	0.527																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1849-1851)tcT>tcC		notch 4							84.0	78.0	80.0					6																	32184732		1511	2709	4220	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32184732A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1851T>C	6.37:g.32184732A>G							p.S617S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			11	1989	-			617			EGF-like 15; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1851T>C	CCDS34420.1																																																																																				0.527	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			12	39	0	0	0	1	0	12	39				
AGO2	27161	broad.mit.edu	37	8	141551409	141551409	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr8:141551409G>A	ENST00000220592.5	-	15	2000	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	AGO2_ENST00000519980.1_Missense_Mutation_p.R630C	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	630	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TGCTGCACGCGCACGGTGGCG	0.622																																						ENST00000220592.5																			0											c.(1888-1890)Cgc>Tgc		argonaute RISC catalytic component 2							81.0	63.0	69.0					8																	141551409		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141551409G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1888C>T	8.37:g.141551409G>A	ENSP00000220592:p.Arg630Cys					AGO2_ENST00000519980.1_Missense_Mutation_p.R630C	p.R630C	NM_012154.3	NP_036286.2					15	2000	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1888C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325526	0.60743	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.32753	1.44;1.44	5.36	3.44	0.39384	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.74258	2.255	0.80722	D	1	P;D	0.52996	0.954;0.957	P;P	0.60415	0.702;0.874	T	0.50482	-0.8823	10	0.31617	T	0.26	-16.0323	14.2655	0.66116	0.0:0.0:0.5622:0.4378	.	630;630	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	C	630	ENSP00000220592:R630C;ENSP00000430176:R630C	ENSP00000220592:R630C	R	-	1	0	EIF2C2	141620591	1.000000	0.71417	0.863000	0.33907	0.968000	0.65278	3.201000	0.51059	1.358000	0.45922	0.650000	0.86243	CGC		0.622	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			3	19	0	0	0	1	0	3	19				
KLHL23	151230	broad.mit.edu	37	2	170606207	170606207	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr2:170606207C>T	ENST00000392647.2	+	4	1886	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W|KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	548										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGTGCCATGCGGTCTCATGG	0.373																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1642-1644)Cgg>Tgg		kelch-like family member 23							221.0	214.0	216.0					2																	170606207		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170606207C>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1642C>T	2.37:g.170606207C>T	ENSP00000376419:p.Arg548Trp					KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W|KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W	p.R548W	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			4	1886	+			548					Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1642C>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639525	0.67244	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.66460	-0.21;-0.21	5.55	2.63	0.31362	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.31065	0.9	0.34834	D	0.739985	D	0.89917	1.0	P	0.60286	0.872	T	0.74959	-0.3486	9	0.54805	T	0.06	.	14.4257	0.67215	0.3863:0.6136:0.0:0.0	.	548	Q8NBE8	KLH23_HUMAN	W	548	ENSP00000272797:R548W;ENSP00000376419:R548W	ENSP00000272797:R548W	R	+	1	2	KLHL23	170314453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.412000	0.44609	0.243000	0.21327	0.655000	0.94253	CGG		0.373	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		4	100	0	0	0	1	0	4	100				
OR6C76	390326	broad.mit.edu	37	12	55820078	55820078	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr12:55820078G>A	ENST00000328314.3	+	1	41	c.41G>A	c.(40-42)gGt>gAt	p.G14D		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCTTCTGGGTCTGACGGAT	0.373																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(40-42)gGt>gAt		olfactory receptor, family 6, subfamily C, member 76							154.0	146.0	149.0					12																	55820078		2203	4300	6503	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820078G>A		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.41G>A	12.37:g.55820078G>A	ENSP00000328402:p.Gly14Asp						p.G14D	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	41	+			14						Missense_Mutation	SNP	ENST00000328314.3	37	c.41G>A	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.736084	0.89482	.	.	ENSG00000185821	ENST00000328314	T	0.02301	4.35	4.35	4.35	0.52113	.	0.000000	0.43579	U	0.000553	T	0.14657	0.0354	M	0.92122	3.275	0.37873	D	0.930111	D	0.58970	0.984	P	0.61397	0.888	T	0.02610	-1.1134	10	0.72032	D	0.01	.	13.2621	0.60111	0.0:0.2073:0.7927:0.0	.	14	A6NM76	O6C76_HUMAN	D	14	ENSP00000328402:G14D	ENSP00000328402:G14D	G	+	2	0	OR6C76	54106345	0.979000	0.34478	0.602000	0.28890	0.731000	0.41821	2.788000	0.47806	2.405000	0.81733	0.598000	0.82781	GGT		0.373	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		21	56	0	0	0	1	0	21	56				
TRIO	7204	broad.mit.edu	37	5	14391061	14391061	+	Missense_Mutation	SNP	A	A	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:14391061A>T	ENST00000344204.4	+	27	4204	c.4180A>T	c.(4180-4182)Act>Tct	p.T1394S	TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S|TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1394	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTGATTCTACTCAGCTGAT	0.343																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4180-4182)Act>Tct		trio Rho guanine nucleotide exchange factor							95.0	93.0	93.0					5																	14391061		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14391061A>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4180A>T	5.37:g.14391061A>T	ENSP00000339299:p.Thr1394Ser					TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S|TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S	p.T1394S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			27	4204	+	Lung NSC(4;0.000742)		1394			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4180A>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234623	0.58886	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.62639	0.01;0.01;0.01	5.29	5.29	0.74685	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	N	0.12746	0.255	0.58432	D	0.999999	B;B;P	0.48764	0.001;0.085;0.915	B;B;P	0.61477	0.001;0.057;0.889	T	0.59947	-0.7358	10	0.23302	T	0.38	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	1345;1394;1394	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	S	1394;1394;1345;1081	ENSP00000339299:T1394S;ENSP00000446348:T1394S;ENSP00000445592:T1345S	ENSP00000339299:T1394S	T	+	1	0	TRIO	14444061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.120000	0.65058	0.528000	0.53228	ACT		0.343	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		17	56	0	0	0	1	0	17	56				
HNF1B	6928	broad.mit.edu	37	17	36099431	36099431	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr17:36099431G>A	ENST00000225893.4	-	2	905	c.544C>T	c.(544-546)Caa>Taa	p.Q182*	HNF1B_ENST00000561193.1_Splice_Site_p.Q182*|HNF1B_ENST00000560016.1_Splice_Site_p.Q182*|HNF1B_ENST00000427275.2_Splice_Site_p.Q182*	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	182					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAACACTTACGTCGGAGGATC	0.547																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28	GRCh37	CM042491	HNF1B	M		c.e2+1		HNF1 homeobox B							140.0	121.0	127.0					17																	36099431		2203	4300	6503	SO:0001630	splice_region_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36099431G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.544+1C>T	17.37:g.36099431G>A						HNF1B_ENST00000427275.2_Splice_Site_p.Q182_splice|HNF1B_ENST00000561193.1_Splice_Site_p.Q182_splice|HNF1B_ENST00000560016.1_Splice_Site_p.Q182_splice	p.Q182_splice	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		2	905	-		Breast(25;0.00765)|Ovarian(249;0.15)	182					B4DKM3|E0YMJ9	Splice_Site	SNP	ENST00000225893.4	37	c.544_splice	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	40	7.944435	0.98574	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	.	.	.	5.96	5.96	0.96718	.	0.102593	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.621	19.3889	0.94570	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;182;70	.	.	Q	-	1	0	HNF1B	33173544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.826000	0.97356	0.655000	0.94253	CAA;CAG;CAA;CAA		0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	Nonsense_Mutation	5	64	0	0	0	1	0	5	64				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	66	0	0	0	1	0	4	66				
ZNF528	84436	broad.mit.edu	37	19	52919463	52919463	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:52919463C>G	ENST00000360465.3	+	7	1784	c.1358C>G	c.(1357-1359)aCt>aGt	p.T453S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAGACCTTACTGCCCATTTT	0.373																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1357-1359)aCt>aGt		zinc finger protein 528							73.0	74.0	74.0					19																	52919463		2202	4300	6502	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919463C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1358C>G	19.37:g.52919463C>G	ENSP00000353652:p.Thr453Ser					ZNF528_ENST00000391788.2_3'UTR	p.T453S	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1784	+			453					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1358C>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360529	0.11296	.	.	ENSG00000167555	ENST00000360465	T	0.35421	1.31	1.96	-2.16	0.07080	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18509	0.0444	N	0.20483	0.58	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.19484	-1.0304	9	0.44086	T	0.13	.	2.6141	0.04899	0.4002:0.2633:0.0:0.3365	.	453	Q3MIS6	ZN528_HUMAN	S	453	ENSP00000353652:T453S	ENSP00000353652:T453S	T	+	2	0	ZNF528	57611275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.953000	0.01526	-0.576000	0.05974	-0.284000	0.09977	ACT		0.373	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		5	98	0	0	0	1	0	5	98				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	25	0	0	0	1	0	3	25				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	125	0	0	0	1	0	5	125				
LRRC37A6P	387646	broad.mit.edu	37	10	27535352	27535352	+	lincRNA	SNP	G	G	A	rs534961552		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr10:27535352G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AATCAAAGTCGTTAGTATTTC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		21831	0.001		0.0	False		,,,				2504	0.0					ENST00000574842.1																			0																																																			387646							g.chr10:27535352G>A																													10.37:g.27535352G>A														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.383	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			18	62	0	0	0	1	0	18	62				
REEP6	92840	broad.mit.edu	37	19	1490185	1490185	+	5'Flank	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:1490185C>T	ENST00000233596.3	+	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.R54H|PCSK4_ENST00000587784.1_Intron	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCCGAATTTGCGTGCCAGGCG	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(160-162)cGc>cAc		proprotein convertase subtilisin/kexin type 4							24.0	26.0	25.0					19																	1490185		2203	4300	6503	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1490185C>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1490185C>T	Exception_encountered					PCSK4_ENST00000587784.1_Intron	p.R54H	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_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)	1	222	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	54					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.161G>A	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822137	0.71028	.	.	ENSG00000115257	ENST00000300954	T	0.32515	1.45	3.3	0.883	0.19177	Proteinase inhibitor, propeptide (1);	0.474579	0.17075	N	0.188014	T	0.37019	0.0988	L	0.53617	1.68	0.28048	N	0.933468	D	0.76494	0.999	P	0.60117	0.869	T	0.16305	-1.0407	10	0.56958	D	0.05	.	2.5982	0.04859	0.2294:0.5071:0.0:0.2635	.	54	Q6UW60	PCSK4_HUMAN	H	54	ENSP00000300954:R54H	ENSP00000300954:R54H	R	-	2	0	PCSK4	1441185	0.021000	0.18746	0.996000	0.52242	0.935000	0.57460	1.113000	0.31184	0.733000	0.32492	0.313000	0.20887	CGC		0.687	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		4	50	0	0	0	1	0	4	50				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	44	0	0	0	1	0	3	44				
P4HA2	8974	broad.mit.edu	37	5	131546166	131546166	+	Missense_Mutation	SNP	G	G	A	rs377044728		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:131546166G>A	ENST00000401867.1	-	7	1088	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	174					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R174C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGGCCGAGCGGCCCATCCCA	0.537																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			1	Substitution - Missense(1)	p.R174C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(520-522)Cgc>Tgc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	284.0	283.0	283.0		520,520,520,520,520	4.6	1.0	5		283	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	P4HA2	NM_001017973.1,NM_001017974.1,NM_001142598.1,NM_001142599.1,NM_004199.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	174/534,174/534,174/534,174/536,174/536	131546166	1,13005	2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546166G>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.520C>T	5.37:g.131546166G>A	ENSP00000384999:p.Arg174Cys					P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C	p.R174C			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1088	-		all_cancers(142;0.103)|Breast(839;0.198)	174					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.520C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848440	0.71603	2.27E-4	0.0	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.62	4.63	0.57726	Tetratricopeptide-like helical (1);	0.046535	0.85682	D	0.000000	T	0.63200	0.2491	M	0.70842	2.15	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;D	0.64321	0.776;0.924	T	0.65709	-0.6102	10	0.87932	D	0	-15.8867	11.5404	0.50663	0.0:0.0:0.6253:0.3747	.	174;174	O15460;O15460-2	P4HA2_HUMAN;.	C	174;174;174;174;174;174;174;206;174	ENSP00000384999:R174C;ENSP00000368379:R174C;ENSP00000166534:R174C;ENSP00000353772:R174C;ENSP00000368398:R174C;ENSP00000368394:R174C	ENSP00000166534:R174C	R	-	1	0	P4HA2	131574065	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.616000	0.67709	2.809000	0.96659	0.467000	0.42956	CGC		0.537	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		22	354	0	0	0	1	0	22	354				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	19	0	0	0	1	0	3	19				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	131	0	0	0	1	0	7	131				
OR1J2	26740	broad.mit.edu	37	9	125273104	125273104	+	Silent	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:125273104C>T	ENST00000335302.5	+	1	24	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCAGAGCAGCGTGTCCGAGT	0.527																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(22-24)agC>agT		olfactory receptor, family 1, subfamily J, member 2							148.0	138.0	141.0					9																	125273104		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273104C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.24C>T	9.37:g.125273104C>T							p.S8S	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	24	+			8					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.24C>T	CCDS35121.1																																																																																				0.527	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			4	96	0	0	0	1	0	4	96				
NOTCH1	4851	broad.mit.edu	37	9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(751-753)gGc>gAc		notch 1							93.0	115.0	108.0					9																	139414008		2039	4193	6232	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139414008C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.752G>A	9.37:g.139414008C>T	ENSP00000277541:p.Gly251Asp	HNSCC(8;0.001)					p.G251D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	827	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	251			EGF-like 6.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.752G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955174	0.92726	.	.	ENSG00000148400	ENST00000277541	D	0.99105	-5.43	5.12	5.12	0.69794	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.92833	3.35	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	D	0.98604	1.0660	10	0.66056	D	0.02	.	16.0241	0.80528	0.0:1.0:0.0:0.0	.	251	P46531	NOTC1_HUMAN	D	251	ENSP00000277541:G251D	ENSP00000277541:G251D	G	-	2	0	NOTCH1	138533829	1.000000	0.71417	0.945000	0.38365	0.820000	0.46376	7.653000	0.83643	2.381000	0.81170	0.561000	0.74099	GGC		0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	217	0	0	0	1	0	5	217				
ALG6	29929	broad.mit.edu	37	1	63877718	63877718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr1:63877718delC	ENST00000371108.4	+	9	1107	c.802delC	c.(802-804)cgtfs	p.R268fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	268					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCCGGTTGATCGTGGATTATT	0.438																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(802-804)gtfs		ALG6, alpha-1,3-glucosyltransferase							157.0	150.0	152.0					1																	63877718		2203	4300	6503	SO:0001589	frameshift_variant	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63877718delC	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.802delC	1.37:g.63877718delC	ENSP00000360149:p.Arg268fs					ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs	p.R268fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			9	1107	+			268					B3KMU2|Q5SXR9|Q9H3I0	Frame_Shift_Del	DEL	ENST00000371108.4	37	c.802delC	CCDS30735.1																																																																																				0.438	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		42	140						42	140	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143196702	143196702	+	lincRNA	DEL	T	T	-			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr1:143196702delT	ENST00000412204.2	-	0	1892				RP11-782C8.1_ENST00000438000.1_lincRNA																							CCTGTTGTACTTTTTTCATAG	0.313																																						ENST00000412204.2																			0																																																			0							g.chr1:143196702delT																													1.37:g.143196702delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	1892	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.313	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			2	4						2	4	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			4	3						4	3	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(688-693)gcc>gc		Zic family member 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.AH230del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	983_985	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		230			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	54						7	54	---	---	---	---
