#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
TBX18	9096	broad.mit.edu	37	6	85448225	85448225	+	Silent	SNP	A	A	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	ENST00000369663.5	-	7	1426	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_ENST00000606784.1_Silent_p.I205I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	363					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1087-1089)atT>atA		T-box 18							219.0	207.0	211.0					6																	85448225		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85448225A>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1089T>A	6.37:g.85448225A>T						TBX18_ENST00000606784.1_Silent_p.I205I	p.I363I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1426	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	363					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1089T>A	CCDS34495.1																																																																																				0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		66	122	0	0	0	1	0	66	122				
RYR2	6262	broad.mit.edu	37	1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	ENST00000366574.2	+	30	4021	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1235	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACAAGAGGGCTATGAACCA	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3703-3705)gGc>gTc		ryanodine receptor 2 (cardiac)							113.0	109.0	111.0					1																	237753198		1918	4124	6042	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753198G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3704G>T	1.37:g.237753198G>T	ENSP00000355533:p.Gly1235Val					RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	p.G1235V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	4021	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1235			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3704G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.67	3.674392	0.67928	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98150	-4.75;-4.74;-4.74	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	D	0.97195	0.9083	M	0.78049	2.395	0.80722	D	1	B	0.20671	0.047	B	0.16722	0.016	D	0.95182	0.8300	10	0.87932	D	0	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1235	Q92736	RYR2_HUMAN	V	1235;1233;1219	ENSP00000355533:G1235V;ENSP00000353174:G1233V;ENSP00000443798:G1219V	ENSP00000353174:G1233V	G	+	2	0	RYR2	235819821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	GGC		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	32	1	0	0.184627	1	0.195817	4	32				
INO80D	54891	broad.mit.edu	37	2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A	rs371646344		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	ENST00000403263.1	-	4	1072	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(667-669)gCg>gTg		INO80 complex subunit D		G	VAL/ALA	0,4162		0,0,2081	64.0	68.0	67.0		668	3.9	1.0	2		67	1,8459		0,1,4229	no	missense	INO80D	NM_017759.4	64	0,1,6310	AA,AG,GG		0.0118,0.0,0.0079	benign	223/1028	206921218	1,12621	2081	4230	6311	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921218G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.668C>T	2.37:g.206921218G>A	ENSP00000384198:p.Ala223Val						p.A223V	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			4	1072	-			223					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.668C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158055	0.38119	0.0	1.18E-4	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32272	1.49;1.46	5.84	3.92	0.45320	.	0.464964	0.25369	N	0.031164	T	0.17023	0.0409	N	0.08118	0	0.35457	D	0.796177	B	0.17667	0.023	B	0.10450	0.005	T	0.10823	-1.0613	10	0.17832	T	0.49	.	16.1163	0.81306	0.0:0.4173:0.5827:0.0	.	223	Q53TQ3-2	.	V	223;223;118	ENSP00000384198:A223V;ENSP00000402369:A118V	ENSP00000233270:A223V	A	-	2	0	INO80D	206629463	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.630000	0.46494	1.459000	0.47892	0.655000	0.94253	GCG		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		7	16	0	0	0	1	0	7	16				
SPATA31D1	389763	broad.mit.edu	37	9	84608693	84608693	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr9:84608693A>G	ENST00000344803.2	+	4	3355	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1103					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAGTCAGAAACAGACTGTA	0.493																																						ENST00000344803.2																			0											c.(3307-3309)aAa>aGa		SPATA31 subfamily D, member 1							55.0	56.0	56.0					9																	84608693		1956	4157	6113	SO:0001583	missense	389763							g.chr9:84608693A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3308A>G	9.37:g.84608693A>G	ENSP00000341988:p.Lys1103Arg						p.K1103R	NM_001001670.2	NP_001001670.1					4	3355	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3308A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.773393	0.00640	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	2.31	-1.87	0.07737	.	.	.	.	.	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.48258	-0.9051	9	0.15952	T	0.53	-0.1768	2.877	0.05634	0.4514:0.2424:0.3062:0.0	.	1103	Q6ZQQ2	F75D1_HUMAN	R	1103	ENSP00000341988:K1103R	ENSP00000341988:K1103R	K	+	2	0	FAM75D1	83798513	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.172000	0.01266	-0.350000	0.08262	-0.397000	0.06425	AAA		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	39	0	0	0	1	0	15	39				
CALCR	799	broad.mit.edu	37	7	93072938	93072938	+	Silent	SNP	C	C	G	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	ENST00000394441.1	-	8	1095	c.780G>C	c.(778-780)cgG>cgC	p.R260R	CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000359558.2_Silent_p.R294R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443																																						ENST00000359558.2																			2	Substitution - coding silent(2)	p.R260R(1)|p.R294R(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(880-882)cgG>cgC		calcitonin receptor	Salmon Calcitonin(DB00017)						118.0	111.0	113.0					7																	93072938		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93072938C>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.780G>C	7.37:g.93072938C>G						CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000394441.1_Silent_p.R260R	p.R294R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1181	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		276					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.882G>C	CCDS5631.1																																																																																				0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	58	0	0	0	1	0	24	58				
DMBT1	1755	broad.mit.edu	37	10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T	rs369082605		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	ENST00000338354.3	+	46	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1966W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1966	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5896-5898)Cgg>Tgg		deleted in malignant brain tumors 1		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4083		0,1,2041	152.0	149.0	150.0		4012,5896,5866	0.1	0.0	10		150	0,8384		0,0,4192	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	101,101,101	0,1,6233	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,probably-damaging,probably-damaging	1338/1786,1966/2414,1956/2404	124390734	1,12467	2042	4192	6234	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390734C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5896C>T	10.37:g.124390734C>T	ENSP00000342210:p.Arg1966Trp					DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1966W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W	p.R1966W	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			46	6002	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1966			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5896C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.728344	0.48833	2.45E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.56	0.0554	0.14315	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.53738	0.1815	M	0.66439	2.03	0.09310	N	1	D;P;B;P;B;D;P	0.89917	1.0;0.5;0.055;0.763;0.047;0.999;0.607	D;B;B;B;B;D;B	0.76575	0.972;0.066;0.007;0.326;0.005;0.988;0.17	T	0.38585	-0.9654	9	0.59425	D	0.04	.	2.9609	0.05891	0.1149:0.5176:0.112:0.2555	.	686;1946;1215;2095;1338;1956;1966	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	W	1966;2095;1966;1966;1966;1966;1338;1956;1338;1338;1966;1956;1338;112;686	ENSP00000342210:R1966W;ENSP00000343175:R1956W;ENSP00000327747:R1338W;ENSP00000357905:R1966W;ENSP00000357951:R1956W;ENSP00000357952:R1338W;ENSP00000352593:R686W	ENSP00000331522:R1338W	R	+	1	2	DMBT1	124380724	0.000000	0.05858	0.042000	0.18584	0.834000	0.47266	-0.730000	0.04915	0.268000	0.21939	0.650000	0.86243	CGG		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		29	31	0	0	0	1	0	29	31				
C19orf53	28974	broad.mit.edu	37	19	13888924	13888924	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924G>A	ENST00000588234.1	+	3	522	c.212G>A	c.(211-213)aGc>aAc	p.S71N	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCC	0.597																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(211-213)aGc>aAc		chromosome 19 open reading frame 53							88.0	85.0	86.0					19																	13888924		2203	4300	6503	SO:0001583	missense	28974							g.chr19:13888924G>A	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.212G>A	19.37:g.13888924G>A	ENSP00000465432:p.Ser71Asn					C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	p.S71N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	522	+			71					B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	c.212G>A	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841792	0.51057	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.99	-2.19	0.07015	.	0.889031	0.09680	N	0.769853	T	0.54967	0.1891	.	.	.	0.26583	N	0.973334	P	0.38711	0.643	P	0.48063	0.565	T	0.58989	-0.7538	8	0.42905	T	0.14	.	18.622	0.91324	0.0:0.4141:0.5859:0.0	.	71	Q9UNZ5	L10K_HUMAN	N	71	.	ENSP00000221576:S71N	S	+	2	0	C19orf53	13749924	0.238000	0.23825	0.179000	0.23059	0.964000	0.63967	-0.393000	0.07305	-0.488000	0.06726	0.485000	0.47835	AGC		0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		4	72	0	0	0	1	0	4	72				
CYP4F3	4051	broad.mit.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	rs138587161	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	ENST00000221307.8	+	2	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	57					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		16188	0.0		0.0	False		,,,				2504	0.002					ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(169-171)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 3		C	TRP/ARG,TRP/ARG,TRP/ARG	4,4402		0,4,2199	51.0	55.0	54.0		169,169,169	-3.6	0.0	19	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	101,101,101	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	57/521,57/521,57/521	15752394	4,13002	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15752394C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.169C>T	19.37:g.15752394C>T	ENSP00000221307:p.Arg57Trp					CYP4F3_ENST00000586182.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W	p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			2	217	+			57					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.169C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397386	0.25205	9.08E-4	0.0	ENSG00000186529	ENST00000221307	D	0.88431	-2.38	3.9	-3.61	0.04556	.	0.389849	0.20343	U	0.094193	T	0.81422	0.4819	L	0.50333	1.59	0.09310	N	0.999998	B;B	0.23128	0.033;0.08	B;B	0.24269	0.032;0.052	T	0.70414	-0.4878	10	0.51188	T	0.08	.	6.8375	0.23945	0.5056:0.3975:0.0:0.0969	.	57;57	B7Z8Z3;Q08477	.;CP4F3_HUMAN	W	57	ENSP00000221307:R57W	ENSP00000221307:R57W	R	+	1	2	CYP4F3	15613394	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.343000	0.07791	-0.186000	0.10533	-0.474000	0.04947	CGG		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		6	59	0	0	0	1	0	6	59				
NDUFAF2	91942	broad.mit.edu	37	5	60241241	60241241	+	Intron	SNP	G	G	C	rs77149936	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr5:60241241G>C	ENST00000296597.5	+	1	254				ERCC8_ENST00000543101.1_5'Flank|ERCC8_ENST00000426742.2_5'Flank|NDUFAF2_ENST00000511107.1_Missense_Mutation_p.W53C|ERCC8_ENST00000265038.5_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CGATTGCGTGGTCAGTGATTG	0.547													G|||	84	0.0167732	0.0008	0.0245	5008	,	,		17937	0.0		0.0477	False		,,,				2504	0.0184					ENST00000511107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6						c.(157-159)tgG>tgC		NADH dehydrogenase (ubiquinone) complex I, assembly factor 2		G		31,4375	36.8+/-68.6	1,29,2173	52.0	45.0	47.0			0.1	0.0	5	dbSNP_132	47	307,8293	110.4+/-170.8	7,293,4000	no	intron	NDUFAF2	NM_174889.4		8,322,6173	CC,CG,GG		3.5698,0.7036,2.5988			60241241	338,12668	2203	4300	6503	SO:0001627	intron_variant	91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241241G>C	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.127+32G>C	5.37:g.60241241G>C						NDUFAF2_ENST00000296597.5_Intron	p.W53C			Q8N183	MIMIT_HUMAN			1	208	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	0					A8K5I1	Missense_Mutation	SNP	ENST00000296597.5	37	c.159G>C	CCDS3979.1	51	0.023351648351648352	0	0.0	13	0.03591160220994475	0	0.0	38	0.05013192612137203	G	3.714	-0.059007	0.07317	0.007036	0.035698	ENSG00000164182	ENST00000511107	D	0.81739	-1.53	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.58250	-0.7669	5	0.87932	D	0	.	.	.	.	.	.	.	.	C	53	ENSP00000423377:W53C	ENSP00000423377:W53C	W	+	3	0	NDUFAF2	60276998	0.004000	0.15560	0.003000	0.11579	0.031000	0.12232	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	TGG		0.547	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	39	0	0	0	1	0	3	39				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	37	0	0	0	1	0	26	37				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5				
SSB	6741	broad.mit.edu	37	2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	ENST00000409333.1	+	7	826	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_ENST00000260956.4_Missense_Mutation_p.N193K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	193					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(577-579)aaT>aaA		Sjogren syndrome antigen B (autoantigen La)							80.0	82.0	81.0					2																	170665016		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665016T>A		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.579T>A	2.37:g.170665016T>A	ENSP00000386636:p.Asn193Lys					SSB_ENST00000260956.4_Missense_Mutation_p.N193K	p.N193K			P05455	LA_HUMAN			7	826	+			193					Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.579T>A	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	T	8.511	0.866482	0.17250	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333;ENST00000544688	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	.	0.196836	0.53938	D	0.000053	T	0.31136	0.0787	L	0.43152	1.355	0.50813	D	0.999895	P;B	0.37423	0.594;0.394	B;B	0.33454	0.164;0.164	T	0.12967	-1.0527	10	0.06099	T	0.92	-25.8	15.1124	0.72368	0.0:0.0:0.0:1.0	.	193;193	E9PFH8;P05455	.;LA_HUMAN	K	193;193;193;52	ENSP00000260956:N193K;ENSP00000386636:N193K	ENSP00000260956:N193K	N	+	3	2	SSB	170373262	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.434000	0.44802	2.222000	0.72286	0.383000	0.25322	AAT		0.318	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		8	41	0	0	0	1	0	8	41				
C19orf53	28974	broad.mit.edu	37	19	13888925	13888925	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888925C>A	ENST00000588234.1	+	3	523	c.213C>A	c.(211-213)agC>agA	p.S71R	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAGCCAGCAGCAGCCTGCCCA	0.602																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(211-213)agC>agA		chromosome 19 open reading frame 53							87.0	84.0	85.0					19																	13888925		2203	4300	6503	SO:0001583	missense	28974							g.chr19:13888925C>A	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.213C>A	19.37:g.13888925C>A	ENSP00000465432:p.Ser71Arg					C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	p.S71R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	523	+			71					B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	c.213C>A	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898428	0.52227	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.99	1.51	0.23008	.	0.889031	0.09680	N	0.769853	T	0.55832	0.1945	.	.	.	0.30574	N	0.763235	P	0.45634	0.863	P	0.57204	0.815	T	0.55835	-0.8078	8	0.62326	D	0.03	.	5.5355	0.17009	0.1611:0.6601:0.0:0.1788	.	71	Q9UNZ5	L10K_HUMAN	R	71	.	ENSP00000221576:S71R	S	+	3	2	C19orf53	13749925	0.723000	0.28027	0.189000	0.23252	0.957000	0.61999	1.180000	0.32005	1.118000	0.41863	0.485000	0.47835	AGC		0.602	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		4	73	1	0	0.184627	1	0.195817	4	73				
KLHL14	57565	broad.mit.edu	37	18	30349853	30349853	+	Silent	SNP	C	C	T	rs369667242		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	ENST00000359358.4	-	2	1140	c.702G>A	c.(700-702)tcG>tcA	p.S234S	AC012123.1_ENST00000426194.1_Silent_p.S27S|KLHL14_ENST00000358095.4_Silent_p.S234S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	234	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCCAGCTCCGACTCCACGG	0.652																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(700-702)tcG>tcA		kelch-like family member 14		C		0,4406		0,0,2203	43.0	37.0	39.0		702	3.1	1.0	18		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL14	NM_020805.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		234/629	30349853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349853C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.702G>A	18.37:g.30349853C>T						AC012123.1_ENST00000426194.1_Silent_p.S27S|KLHL14_ENST00000358095.4_Silent_p.S234S	p.S234S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1140	-			234			BACK.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.702G>A	CCDS32813.1																																																																																				0.652	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			15	22	0	0	0	1	0	15	22				
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(508-510)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain		G	HIS/ARG	0,4406		0,0,2203	47.0	44.0	45.0		509	4.7	1.0	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRADD	NM_003805.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	170/200	94243956	2,13004	2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243956G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.509G>A	12.37:g.94243956G>A	ENSP00000439068:p.Arg170His					CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H	p.R170H			P78560	CRADD_HUMAN			3	827	+			170			Death.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.509G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581119	0.86748	0.0	2.33E-4	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.86865	-2.18;-2.18	5.76	4.69	0.59074	Death (3);DEATH-like (2);	0.275697	0.37261	N	0.002177	D	0.88291	0.6397	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.49597	0.616	D	0.89748	0.3938	10	0.87932	D	0	-17.7443	15.6915	0.77457	0.0762:0.0:0.9238:0.0	.	170	P78560	CRADD_HUMAN	H	170	ENSP00000327647:R170H;ENSP00000439068:R170H	ENSP00000327647:R170H	R	+	2	0	CRADD	92768087	0.993000	0.37304	0.997000	0.53966	0.967000	0.64934	2.179000	0.42528	2.724000	0.93272	0.563000	0.77884	CGC		0.637	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		22	27	0	0	0	1	0	22	27				
NLRP6	171389	broad.mit.edu	37	11	281637	281637	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	ENST00000312165.5	+	4	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_ENST00000534750.1_Missense_Mutation_p.R635C	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1903-1905)Cgc>Tgc		NLR family, pyrin domain containing 6							95.0	105.0	102.0					11																	281637		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281637C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1903C>T	11.37:g.281637C>T	ENSP00000309767:p.Arg635Cys					NLRP6_ENST00000312165.5_Missense_Mutation_p.R635C	p.R635C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2108	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	635					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1903C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267121	0.23136	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.54479	0.57;0.57	2.93	-1.78	0.07957	.	0.860575	0.09458	N	0.799428	T	0.54581	0.1867	M	0.77103	2.36	0.37920	D	0.931665	D;D	0.71674	0.998;0.997	P;P	0.50754	0.505;0.649	T	0.61392	-0.7072	10	0.72032	D	0.01	.	1.415	0.02299	0.3737:0.3213:0.1835:0.1215	.	635;635	E9PJZ8;P59044	.;NALP6_HUMAN	C	635	ENSP00000433617:R635C;ENSP00000309767:R635C	ENSP00000309767:R635C	R	+	1	0	NLRP6	271637	0.000000	0.05858	0.162000	0.22713	0.773000	0.43773	-1.027000	0.03592	-0.358000	0.08162	0.462000	0.41574	CGC		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		31	81	0	0	0	1	0	31	81				
ZZEF1	23140	broad.mit.edu	37	17	3999148	3999148	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:3999148C>A	ENST00000381638.2	-	11	2014	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	630							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGCCTGAGCTCCTGAAGCT	0.333																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1888-1890)gaG>gaT		zinc finger, ZZ-type with EF-hand domain 1							70.0	72.0	72.0					17																	3999148		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3999148C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1890G>T	17.37:g.3999148C>A	ENSP00000371051:p.Glu630Asp					ZZEF1_ENST00000574474.1_5'UTR	p.E630D	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			11	2014	-			630					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1890G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807914	0.31961	.	.	ENSG00000074755	ENST00000381638	T	0.20069	2.1	6.17	-6.31	0.02001	.	0.148371	0.64402	D	0.000011	T	0.07324	0.0185	N	0.04880	-0.145	0.25804	N	0.984473	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.28106	-1.0054	10	0.19147	T	0.46	-23.55	11.8114	0.52185	0.0:0.4443:0.109:0.4467	.	630;630	O43149-3;O43149	.;ZZEF1_HUMAN	D	630	ENSP00000371051:E630D	ENSP00000371051:E630D	E	-	3	2	ZZEF1	3945897	0.150000	0.22732	0.522000	0.27862	0.961000	0.63080	-0.663000	0.05299	-1.079000	0.03113	0.655000	0.94253	GAG		0.333	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	45	1	0	0.014758	1	0.0166622	4	45				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		5	10	0	0	0	1	0	5	10				
LRRC43	254050	broad.mit.edu	37	12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A	rs374268516		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	ENST00000339777.4	+	10	1748	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1720-1722)Ccc>Acc		leucine rich repeat containing 43							27.0	34.0	31.0					12																	122685392		1962	4128	6090	SO:0001583	missense	254050							g.chr12:122685392C>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1720C>A	12.37:g.122685392C>A	ENSP00000344233:p.Pro574Thr					LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T	p.P574T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1748	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		574					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1720C>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069721	0.36470	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.93	5.31	3.18	0.36537	.	0.501537	0.21091	N	0.080310	T	0.42877	0.1222	M	0.62723	1.935	0.26831	N	0.968579	B	0.26708	0.157	B	0.24006	0.05	T	0.27191	-1.0081	10	0.27082	T	0.32	-26.7593	4.7911	0.13248	0.2743:0.5497:0.0:0.176	.	574	Q8N309	LRC43_HUMAN	T	574;445;389	ENSP00000344233:P574T;ENSP00000416628:P389T	ENSP00000289014:P445T	P	+	1	0	LRRC43	121251345	0.086000	0.21541	1.000000	0.80357	0.269000	0.26545	-0.205000	0.09411	1.062000	0.40625	0.650000	0.86243	CCC		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		26	36	1	0	4.72057e-08	1	5.50733e-08	26	36				
SNHG14	104472715	broad.mit.edu	37	15	25436435	25436435	+	RNA	SNP	C	C	G	rs145726490	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr15:25436435C>G	ENST00000424208.1	+	0	1030				SNHG14_ENST00000456576.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCTCTGGGCTCAGCCCCTGGT	0.632													C|||	20	0.00399361	0.0151	0.0	5008	,	,		17836	0.0		0.0	False		,,,				2504	0.0					ENST00000424208.1																			0																																																			0							g.chr15:25436435C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436435C>G						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1030	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.632	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	36	0	0	0	1	0	3	36				
PMEPA1	56937	broad.mit.edu	37	20	56284580	56284580	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	ENST00000341744.3	-	1	378	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	20					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGTGCAGGAGACATTGGGCTg	0.721																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(58-60)gTc>gCc		prostate transmembrane protein, androgen induced 1							30.0	26.0	27.0					20																	56284580		2179	4274	6453	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56284580A>G	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.59T>C	20.37:g.56284580A>G	ENSP00000345826:p.Val20Ala					PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000472841.1_Intron	p.V20A	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			1	378	-			20					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.59T>C	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513615	0.44763	.	.	ENSG00000124225	ENST00000341744;ENST00000395819	T;T	0.60797	0.91;0.16	3.04	3.04	0.35103	.	.	.	.	.	T	0.45796	0.1360	L	0.50333	1.59	0.80722	D	1	B	0.27117	0.168	B	0.27608	0.081	T	0.19943	-1.0290	9	0.10636	T	0.68	.	9.199	0.37246	1.0:0.0:0.0:0.0	.	20	Q969W9	PMEPA_HUMAN	A	20	ENSP00000345826:V20A;ENSP00000379164:V20A	ENSP00000345826:V20A	V	-	2	0	PMEPA1	55717986	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.327000	0.33746	1.030000	0.39839	0.147000	0.16070	GTC		0.721	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		2	4	0	0	0	1	0	2	4				
TTYH3	80727	broad.mit.edu	37	7	2696109	2696109	+	Silent	SNP	C	C	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	ENST00000258796.7	+	11	1396	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_ENST00000407643.1_Silent_p.V365V|TTYH3_ENST00000403167.1_Silent_p.V226V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	397					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1189-1191)gtC>gtG		tweety family member 3							97.0	85.0	89.0					7																	2696109		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2696109C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1191C>G	7.37:g.2696109C>G						TTYH3_ENST00000403167.1_Silent_p.V226V|TTYH3_ENST00000407643.1_Silent_p.V365V	p.V397V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	11	1396	+		Ovarian(82;0.0112)	397					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1191C>G	CCDS34588.1																																																																																				0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		11	91	0	0	0	1	0	11	91				
VPS18	57617	broad.mit.edu	37	15	41192203	41192203	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr15:41192203G>T	ENST00000220509.5	+	4	1526	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	396					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGGGAGGCCCGAGATGTCTGG	0.627																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1186-1188)cGa>cTa		vacuolar protein sorting 18 homolog (S. cerevisiae)							76.0	78.0	77.0					15																	41192203		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192203G>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1187G>T	15.37:g.41192203G>T	ENSP00000220509:p.Arg396Leu					VPS18_ENST00000558474.1_Intron	p.R396L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1526	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	396					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1187G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451608	0.84209	.	.	ENSG00000104142	ENST00000220509	T	0.20738	2.05	5.06	5.06	0.68205	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59947	-0.7358	10	0.62326	D	0.03	-33.9789	18.7973	0.91999	0.0:0.0:1.0:0.0	.	396	Q9P253	VPS18_HUMAN	L	396	ENSP00000220509:R396L	ENSP00000220509:R396L	R	+	2	0	VPS18	38979495	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.813000	0.99286	2.517000	0.84864	0.561000	0.74099	CGA		0.627	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	93	1	0	1	1	1	4	93				
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													G|||	7	0.00139776	0.0008	0.0	5008	,	,		18280	0.0		0.006	False		,,,				2504	0.0					ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(295-297)cCg>cTg		DiGeorge syndrome critical region gene 14		G	LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	75.0	78.0	77.0		296	3.2	0.6	22	dbSNP_132	77	93,8507	51.1+/-111.2	1,91,4208	yes	missense	DGCR14	NM_022719.2	98	1,102,6400	AA,AG,GG		1.0814,0.2497,0.7996	benign	99/477	19130247	104,12902	2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19130247G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.296C>T	22.37:g.19130247G>A	ENSP00000252137:p.Pro99Leu						p.P99L	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			2	339	-	Colorectal(54;0.0993)		99					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.296C>T	CCDS13756.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.50	2.553078	0.45487	0.002497	0.010814	ENSG00000100056	ENST00000252137	T	0.23348	1.91	4.18	3.16	0.36331	.	0.390425	0.28883	N	0.013829	T	0.11922	0.0290	L	0.45051	1.395	0.26408	N	0.976302	P	0.48998	0.918	B	0.33521	0.165	T	0.10965	-1.0607	10	0.26408	T	0.33	-8.5837	11.7907	0.52068	0.0875:0.0:0.9125:0.0	.	99	Q96DF8	DGC14_HUMAN	L	99	ENSP00000252137:P99L	ENSP00000252137:P99L	P	-	2	0	DGCR14	17510247	0.993000	0.37304	0.569000	0.28460	0.522000	0.34438	2.879000	0.48522	0.985000	0.38656	-0.150000	0.13652	CCG		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			4	88	0	0	0	1	0	4	88				
EXPH5	23086	broad.mit.edu	37	11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	ENST00000265843.4	-	6	4873	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1588					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4762-4764)aGa>aTa		exophilin 5							181.0	166.0	171.0					11																	108381471		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381471C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4763G>T	11.37:g.108381471C>A	ENSP00000265843:p.Arg1588Ile					EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I	p.R1588I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4873	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1588					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4763G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548378	0.45383	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.06608	3.51;3.43;3.28;3.51;3.29	5.96	3.04	0.35103	.	0.160364	0.45126	D	0.000392	T	0.14614	0.0353	M	0.66939	2.045	0.44309	D	0.997188	D	0.63046	0.992	P	0.56648	0.803	T	0.00681	-1.1612	10	0.49607	T	0.09	-6.243	7.9227	0.29857	0.0:0.728:0.132:0.14	.	1588	Q8NEV8	EXPH5_HUMAN	I	1588;1512;1400;1581;1512	ENSP00000265843:R1588I;ENSP00000391966:R1512I;ENSP00000411390:R1400I;ENSP00000432546:R1581I;ENSP00000432683:R1512I	ENSP00000265843:R1588I	R	-	2	0	EXPH5	107886681	0.967000	0.33354	0.002000	0.10522	0.004000	0.04260	1.229000	0.32600	0.397000	0.25310	0.655000	0.94253	AGA		0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		40	96	1	0	1.15505e-17	1	1.39402e-17	40	96				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100137017	100137018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	ENST00000300176.4	+	1	170_171	c.48_49insG	c.(49-51)gggfs	p.G17fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.G17fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	17					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						gcggggtcagcgggggcaaggc	0.733																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(46-51)agggggfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100137017_100137018insG	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.53dupG	7.37:g.100137022_100137022dupG	ENSP00000300176:p.Gly17fs					AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.RG16fs	p.RG16fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			1	170_171	+			16					O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.48_49insG	CCDS5697.1																																																																																				0.733	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	ENST00000373344.5	-	9	2509_2510	c.2295_2296insA	c.(2293-2298)tatgatfs	p.D766fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D728fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	766					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						GTCTTTAAATCATACAAAGTCT	0.356			"""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.(2293-2298)taatttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_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:76938452_76938453insT	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.2295_2296insA	X.37:g.76938452_76938453insT	ENSP00000362441:p.Asp766fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F728fs	p.F766fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2509_2510	-			766					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.2295_2296insA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		83	38						83	38	---	---	---	---
