#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
FLAD1	80308	broad.mit.edu	37	1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	ENST00000292180.3	+	6	1934	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	538	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502																																						ENST00000292180.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(1612-1614)Atc>Gtc		flavin adenine dinucleotide synthetase 1							153.0	145.0	148.0					1																	154965246		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154965246A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1612A>G	1.37:g.154965246A>G	ENSP00000292180:p.Ile538Val					FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V|FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron	p.I538V	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	1934	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		538			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1612A>G	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711463	0.30322	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	4.64	2.32	0.28847	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.110918	0.64402	N	0.000013	T	0.19565	0.0470	N	0.12746	0.255	0.80722	D	1	D	0.55385	0.971	P	0.51055	0.657	T	0.02404	-1.1164	9	0.28530	T	0.3	-11.8709	8.5926	0.33697	0.839:0.0:0.161:0.0	.	538	Q8NFF5	FAD1_HUMAN	V	441;441;538;79	.	ENSP00000292180:I538V	I	+	1	0	FLAD1	153231870	0.932000	0.31603	0.995000	0.50966	0.884000	0.51177	1.322000	0.33689	0.314000	0.23086	0.358000	0.22013	ATC		0.502	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		38	58	0	0	0	0.006230	0	38	58				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077672	32077672	+	RNA	SNP	G	G	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:32077672G>C	ENST00000354689.6	+	0	287				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GTGTATTACTGTGTGAAACAC	0.557																																						ENST00000354689.6																			0																																																			0							g.chr16:32077672G>C	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077672G>C						RP11-1166P10.6_ENST00000566806.1_RNA								0	287	+									RNA	SNP	ENST00000354689.6	37			.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425622	0.04701	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	T	0.46698	0.1406	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55742	-0.8093	3	0.87932	D	0	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	.	.	.	S	96	.	ENSP00000346720:C96S	C	+	2	0	AC142381.1	31985173	1.000000	0.71417	0.196000	0.23383	0.197000	0.23852	6.020000	0.70826	0.107000	0.17824	0.109000	0.15622	TGT		0.557	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			64	239	0	0	0	0.014410	0	64	239				
KCNH8	131096	broad.mit.edu	37	3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	ENST00000328405.2	+	5	1059	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	265					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(793-795)Gag>Aag		potassium voltage-gated channel, subfamily H (eag-related), member 8							112.0	108.0	109.0					3																	19389439		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19389439G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.793G>A	3.37:g.19389439G>A	ENSP00000328813:p.Glu265Lys					KCNH8_ENST00000475063.1_3'UTR	p.E265K	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			5	1059	+			265					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.793G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219713	0.95139	.	.	ENSG00000183960	ENST00000328405	D	0.94576	-3.46	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.31566	U	0.007439	D	0.97247	0.9100	M	0.79926	2.475	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.67382	0.838;0.951	D	0.96640	0.9473	9	.	.	.	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	265;265	B7Z398;Q96L42	.;KCNH8_HUMAN	K	265	ENSP00000328813:E265K	.	E	+	1	0	KCNH8	19364443	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.835000	0.99442	2.763000	0.94921	0.563000	0.77884	GAG		0.393	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		32	70	0	0	0	0.013726	0	32	70				
ZNF724P	440519	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	T	C	rs10412126	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:23405580T>C	ENST00000418100.1	-	4	1584	c.1467A>G	c.(1465-1467)ctA>ctG	p.L489L				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGTGAGGATAGGTTAAAAG	0.383													N|||	2536	0.50639	0.1982	0.6398	5008	,	,		20851	0.6627		0.6014	False		,,,				2504	0.5695					ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1465-1467)ctA>ctG																																						SO:0001819	synonymous_variant	0							g.chr19:23405580T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1467A>G	19.37:g.23405580T>C							p.L489L							4	1584	-									Silent	SNP	ENST00000418100.1	37	c.1467A>G																																																																																					0.383	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			4	40	0	0	0	0.009096	0	4	40				
PACS1	55690	broad.mit.edu	37	11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	ENST00000320580.4	+	10	1295	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1261-1263)aAa>aGa		phosphofurin acidic cluster sorting protein 1							109.0	88.0	95.0					11																	65988687		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988687A>G	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1262A>G	11.37:g.65988687A>G	ENSP00000316454:p.Lys421Arg						p.K421R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			10	1295	+			421					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1262A>G	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063256	0.36373	.	.	ENSG00000175115	ENST00000320580	T	0.17854	2.25	5.06	5.06	0.68205	.	0.318645	0.34507	N	0.003918	T	0.07234	0.0183	N	0.03608	-0.345	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.32161	-0.9917	10	0.17369	T	0.5	-12.1676	10.0256	0.42070	0.8304:0.1696:0.0:0.0	.	421	Q6VY07	PACS1_HUMAN	R	421	ENSP00000316454:K421R	ENSP00000316454:K421R	K	+	2	0	PACS1	65745263	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.784000	0.55416	1.907000	0.55213	0.459000	0.35465	AAA		0.642	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		5	86	0	0	0	0.000602	0	5	86				
ACP7	390928	broad.mit.edu	37	19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	ENST00000331256.5	+	6	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		229						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGGGCCTGTGGTACAGGTAAT	0.572																																						ENST00000331256.5																			0											c.(685-687)tgG>tgC									96.0	101.0	99.0					19																	39591277		2203	4300	6503	SO:0001583	missense	0					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591277G>C																												ENST00000331256.5:c.687G>C	19.37:g.39591277G>C	ENSP00000327557:p.Trp229Cys					PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	p.W229C	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			6	961	+			229					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.687G>C	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111141	0.77210	.	.	ENSG00000183760	ENST00000331256	D	0.85013	-1.93	5.24	5.24	0.73138	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94683	0.8285	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96004	0.8996	10	0.87932	D	0	-26.2857	16.6789	0.85286	0.0:0.0:1.0:0.0	.	229	Q6ZNF0	PAPL_HUMAN	C	229	ENSP00000327557:W229C	ENSP00000327557:W229C	W	+	3	0	AC011443.1	44283117	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.661000	0.91125	2.585000	0.87301	0.563000	0.77884	TGG		0.572	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			38	62	0	0	0	0.009718	0	38	62				
C17orf47	284083	broad.mit.edu	37	17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	ENST00000321691.3	-	1	1445	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	422										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1264-1266)Gga>Aga		chromosome 17 open reading frame 47							120.0	123.0	122.0					17																	56620284		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620284C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1264G>A	17.37:g.56620284C>T	ENSP00000354874:p.Gly422Arg					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	p.G422R	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1445	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		422					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1264G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595758	0.66219	.	.	ENSG00000181013	ENST00000321691	T	0.50548	0.74	5.8	5.8	0.92144	.	0.185211	0.38492	N	0.001672	T	0.58864	0.2152	L	0.34521	1.04	0.36278	D	0.855618	D	0.89917	1.0	D	0.77004	0.989	T	0.66106	-0.6006	10	0.72032	D	0.01	-6.9381	15.5506	0.76148	0.0:1.0:0.0:0.0	.	422	Q8NEP4	CQ047_HUMAN	R	422	ENSP00000354874:G422R	ENSP00000354874:G422R	G	-	1	0	C17orf47	53975283	0.120000	0.22244	0.909000	0.35828	0.434000	0.31775	3.893000	0.56243	2.739000	0.93911	0.561000	0.74099	GGA		0.547	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		38	64	0	0	0	0.005524	0	38	64				
TLR3	7098	broad.mit.edu	37	4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	ENST00000296795.3	+	4	1629	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	509					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1525-1527)Acc>Gcc		toll-like receptor 3							104.0	107.0	106.0					4																	187004365		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004365A>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1525A>G	4.37:g.187004365A>G	ENSP00000296795:p.Thr509Ala					TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	p.T509A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1629	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	509					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.1525A>G	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289126	0.23478	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.58060	0.36;0.36	5.67	1.91	0.25777	.	0.367075	0.36665	N	0.002474	T	0.46889	0.1416	L	0.28649	0.875	0.42866	D	0.994127	B	0.31931	0.347	B	0.43916	0.436	T	0.40739	-0.9547	10	0.49607	T	0.09	.	9.3558	0.38166	0.7966:0.0:0.2034:0.0	.	509	O15455	TLR3_HUMAN	A	509;509;232	ENSP00000296795:T509A;ENSP00000423684:T232A	ENSP00000296795:T509A	T	+	1	0	TLR3	187241359	1.000000	0.71417	0.322000	0.25334	0.171000	0.22731	2.990000	0.49401	0.110000	0.17919	0.455000	0.32223	ACC		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			51	63	0	0	0	0.014410	0	51	63				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	45	0	0	0	0.003330	0	24	45				
SCD	6319	broad.mit.edu	37	10	102120548	102120548	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	ENST00000370355.2	+	6	1319	c.938A>C	c.(937-939)tAc>tCc	p.Y313S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	313					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.532																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(937-939)tAc>tCc		stearoyl-CoA desaturase (delta-9-desaturase)							148.0	132.0	137.0					10																	102120548		2203	4298	6501	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102120548A>C	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.938A>C	10.37:g.102120548A>C	ENSP00000359380:p.Tyr313Ser						p.Y313S	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	6	1319	+		Colorectal(252;0.0323)	313					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.938A>C	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204589	0.79127	.	.	ENSG00000099194	ENST00000370355	T	0.42131	0.98	5.5	5.5	0.81552	.	0.106321	0.42548	D	0.000692	T	0.58750	0.2144	M	0.78916	2.43	0.43283	D	0.995259	D	0.63046	0.992	P	0.59825	0.864	T	0.64266	-0.6448	10	0.87932	D	0	-45.6121	9.2831	0.37740	0.7266:0.0:0.0:0.2734	.	313	O00767	ACOD_HUMAN	S	313	ENSP00000359380:Y313S	ENSP00000359380:Y313S	Y	+	2	0	SCD	102110538	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.228000	0.65310	2.105000	0.64084	0.528000	0.53228	TAC		0.532	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		5	96	0	0	0	0.000602	0	5	96				
ADRA1D	146	broad.mit.edu	37	20	4202427	4202427	+	Silent	SNP	G	G	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	ENST00000379453.4	-	2	1578	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	488					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GGTGGCTTTCGACGGCTGGCG	0.736																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1462-1464)Cga>Aga		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						5.0	6.0	5.0					20																	4202427		1746	3606	5352	SO:0001819	synonymous_variant	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202427G>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1462C>A	20.37:g.4202427G>T							p.R488R	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1578	-			488					Q9NPY0	Silent	SNP	ENST00000379453.4	37	c.1462C>A	CCDS13079.1																																																																																				0.736	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		6	5	1	0	2.7689e-08	0.001984	3.30138e-08	6	5				
CDR2	1039	broad.mit.edu	37	16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	ENST00000268383.2	-	5	884	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	193						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(577-579)Gag>Cag		cerebellar degeneration-related protein 2, 62kDa							121.0	109.0	113.0					16																	22359074		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22359074C>G	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.577G>C	16.37:g.22359074C>G	ENSP00000268383:p.Glu193Gln						p.E193Q	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	5	884	-			193					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.577G>C	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645363	0.67358	.	.	ENSG00000140743	ENST00000268383	T	0.29397	1.57	5.58	5.58	0.84498	.	0.046816	0.85682	D	0.000000	T	0.49236	0.1545	L	0.49571	1.57	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	T	0.19095	-1.0316	10	0.16896	T	0.51	-19.5919	19.5747	0.95438	0.0:1.0:0.0:0.0	.	193	Q01850	CDR2_HUMAN	Q	193	ENSP00000268383:E193Q	ENSP00000268383:E193Q	E	-	1	0	CDR2	22266575	1.000000	0.71417	0.867000	0.34043	0.651000	0.38670	5.217000	0.65252	2.618000	0.88619	0.655000	0.94253	GAG		0.458	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			57	60	0	0	0	0.014410	0	57	60				
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(610-612)cGg>cAg		cadherin 4, type 1, R-cadherin (retinal)							93.0	80.0	85.0					20																	60419758		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419758G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.611G>A	20.37:g.60419758G>A	ENSP00000353656:p.Arg204Gln					CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	p.R204Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	699	+			204			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.611G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152354	0.38021	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.54965	1.715	0.58432	D	0.999996	P	0.48998	0.918	B	0.35550	0.205	T	0.45948	-0.9226	9	.	.	.	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	204	P55283	CADH4_HUMAN	Q	204;112;130	ENSP00000353656:R204Q;ENSP00000443301:R130Q	.	R	+	2	0	CDH4	59853153	1.000000	0.71417	0.917000	0.36280	0.113000	0.19764	7.651000	0.83577	1.753000	0.51906	0.313000	0.20887	CGG		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		9	58	0	0	0	0.008291	0	9	58				
ABHD16B	140701	broad.mit.edu	37	20	62493607	62493607	+	Silent	SNP	C	C	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:62493607C>T	ENST00000369916.3	+	1	1042	c.714C>T	c.(712-714)ccC>ccT	p.P238P	TPD52L2_ENST00000369927.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	238							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACTTCCCGCCCGCGCACCTGG	0.687																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(712-714)ccC>ccT		abhydrolase domain containing 16B							38.0	31.0	33.0					20																	62493607		2203	4297	6500	SO:0001819	synonymous_variant	140701						hydrolase activity	g.chr20:62493607C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.714C>T	20.37:g.62493607C>T							p.P238P	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1042	+			238						Silent	SNP	ENST00000369916.3	37	c.714C>T	CCDS13539.1																																																																																				0.687	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			7	6	0	0	0	0.004482	0	7	6				
ATRX	546	broad.mit.edu	37	X	76814319	76814319	+	Splice_Site	SNP	T	T	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	ENST00000373344.5	-	29	6541		c.e29-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCGTCCTCTGAAAATGAAA	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e29-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						35.0	34.0	34.0					X																	76814319		2187	4284	6471	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814319T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6327-2A>G	X.37:g.76814319T>C						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6541	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869052	0.51588	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1415	0.65322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76700975	1.000000	0.71417	0.999000	0.59377	0.475000	0.33008	7.616000	0.83018	1.716000	0.51395	0.486000	0.48141	.		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	21	9	0	0	0	0.012319	0	21	9				
HIVEP3	59269	broad.mit.edu	37	1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	ENST00000372583.1	-	4	2155	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R424*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCTATTCGCCCACACTTG	0.607																																						ENST00000372584.1																			1	Substitution - Nonsense(1)	p.R424*(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1270-1272)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 3							115.0	98.0	104.0					1																	42049199		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049199G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1270C>T	1.37:g.42049199G>A	ENSP00000361664:p.Arg424*					HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R424*	p.R424*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2284	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	424			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.1270C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542098	0.98348	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.15	-0.551	0.11822	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8347	17.7526	0.88439	0.0:0.0:0.1901:0.8099	.	.	.	.	X	424	.	ENSP00000247584:R424X	R	-	1	2	HIVEP3	41821786	0.382000	0.25148	0.681000	0.30009	0.022000	0.10575	0.900000	0.28431	-0.242000	0.09667	0.655000	0.94253	CGA		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		20	44	0	0	0	0.007413	0	20	44				
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G	rs397516437		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	ENST00000269305.4	-	7	919	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_ENST00000455263.2_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000420246.2_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(730-732)Ggc>Cgc	Other conserved DNA damage response genes	tumor protein p53							147.0	111.0	123.0					17																	7577551		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577551C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>C	17.37:g.7577551C>G	ENSP00000269305:p.Gly244Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R|TP53_ENST00000455263.2_Missense_Mutation_p.G244R	p.G244R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	862	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.730G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754893	0.89843	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244R;ENSP00000352610:G244R;ENSP00000269305:G244R;ENSP00000398846:G244R;ENSP00000391127:G244R;ENSP00000391478:G244R;ENSP00000425104:G112R;ENSP00000423862:G151R	ENSP00000269305:G244R	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	11	0	0	0	0.014410	0	52	11				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	19	0	0	0	0.004672	0	3	19				
FGD6	55785	broad.mit.edu	37	12	95604907	95604907	+	Silent	SNP	T	T	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	ENST00000343958.4	-	2	376	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_ENST00000546711.1_Silent_p.A51A|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(151-153)gcA>gcC		FYVE, RhoGEF and PH domain containing 6							210.0	223.0	219.0					12																	95604907		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604907T>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.153A>C	12.37:g.95604907T>G						FGD6_ENST00000549499.1_Silent_p.A51A|FGD6_ENST00000546711.1_Silent_p.A51A	p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	376	-			51					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.153A>C	CCDS31878.1																																																																																				0.458	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		105	171	0	0	0	0.014410	0	105	171				
CASR	846	broad.mit.edu	37	3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	ENST00000490131.1	+	7	2182	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	CASR_ENST00000498619.1_Missense_Mutation_p.E614K|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	604			E -> K (in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity). {ECO:0000269|PubMed:12574188}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM030375	CASR	M	rs104893712	c.(1840-1842)Gag>Aag		calcium-sensing receptor	Cinacalcet(DB01012)						148.0	122.0	131.0					3																	122002611		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002611G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1810G>A	3.37:g.122002611G>A	ENSP00000418685:p.Glu604Lys					CASR_ENST00000490131.1_Missense_Mutation_p.E604K|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	p.E614K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2278	+			604					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1840G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832474	0.91036	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90197	-2.63;-2.63;-2.63	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85710	2.77	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.95963	0.8963	9	0.87932	D	0	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	614;604	E7ENE0;P41180	.;CASR_HUMAN	K	604;614;604	ENSP00000418685:E604K;ENSP00000420194:E614K;ENSP00000296154:E604K	ENSP00000296154:E604K	E	+	1	0	CASR	123485301	1.000000	0.71417	0.984000	0.44739	0.977000	0.68977	9.869000	0.99810	2.804000	0.96469	0.462000	0.41574	GAG		0.517	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		14	55	0	0	0	0.001855	0	14	55				
DHCR7	1717	broad.mit.edu	37	11	71152414	71152414	+	Missense_Mutation	SNP	G	G	A	rs398123606		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	ENST00000355527.3	-	6	761	c.485C>T	c.(484-486)gCt>gTt	p.A162V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGAGATGAGCGTTTGCAAA	0.547									Smith-Lemli-Opitz syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.001	False		,,,				2504	0.0					ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(484-486)gCt>gTt		7-dehydrocholesterol reductase	NADH(DB00157)						178.0	131.0	147.0					11																	71152414		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152414G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.485C>T	11.37:g.71152414G>A	ENSP00000347717:p.Ala162Val					DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	761	-			162					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.485C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489345	0.26686	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.19	4.14	3.18	0.36537	.	0.367511	0.29692	N	0.011451	D	0.96543	0.8872	L	0.33624	1.015	0.34112	D	0.663129	P	0.51653	0.947	P	0.56751	0.805	D	0.96891	0.9653	10	0.37606	T	0.19	-11.0732	11.5549	0.50741	0.0:0.1833:0.8167:0.0	.	162	Q9UBM7	DHCR7_HUMAN	V	162;162;174;130;162	ENSP00000384739:A162V;ENSP00000347717:A162V;ENSP00000435047:A130V;ENSP00000435668:A162V	ENSP00000347717:A162V	A	-	2	0	DHCR7	70830062	1.000000	0.71417	0.001000	0.08648	0.012000	0.07955	8.537000	0.90631	0.816000	0.34421	0.313000	0.20887	GCT		0.547	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	33	0	0	0	0.004672	0	3	33				
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312																																						ENST00000552810.1																			1	Insertion - Frameshift(1)	p.I558fs*20(1)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73	GRCh37	CD073590	CEP290	D	rs77980773	c.(1666-1668)tcgfs		centrosomal protein 290kDa																																				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512304_88512305insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1667dupA	12.37:g.88512314_88512314dupT	ENSP00000448012:p.Ile556fs					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs	p.S556fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	2009_2010	-			556					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.1666_1667insA	CCDS55858.1																																																																																				0.312	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	3						4	3	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			0							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			2	4						2	4	---	---	---	---
