#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
ZNF138	7697	broad.mit.edu	37	7	64291898	64291898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:64291898C>T	ENST00000359735.3	+	4	454	c.107C>T	c.(106-108)aCa>aTa	p.T36I	ZNF138_ENST00000397136.2_Missense_Mutation_p.T36I|ZNF138_ENST00000440155.2_Missense_Mutation_p.T67I|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.T61I|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.T93I	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CAAAAAGTGACACTGAGCAGA	0.368																																						ENST00000359735.3																			0				kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7						c.(106-108)aCa>aTa		zinc finger protein 138							94.0	92.0	93.0					7																	64291898		2203	4300	6503	SO:0001583	missense	7697				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:64291898C>T	U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.107C>T	7.37:g.64291898C>T	ENSP00000352770:p.Thr36Ile					ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.T61I|ZNF138_ENST00000397136.2_Missense_Mutation_p.T36I|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.T67I|ZNF138_ENST00000307355.7_Missense_Mutation_p.T93I|ZNF138_ENST00000494380.1_3'UTR	p.T36I	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN			4	454	+		Lung NSC(55;0.0795)|all_lung(88;0.18)	67					B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	ENST00000359735.3	37	c.107C>T		.	.	.	.	.	.	.	.	.	.	.	0	-2.611247	0.00120	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.05717	3.49;3.43;3.42;3.4;3.43	1.06	-0.34	0.12643	.	.	.	.	.	T	0.01905	0.0060	N	0.02736	-0.51	0.09310	N	1	B;B;B	0.15930	0.001;0.015;0.001	B;B;B	0.24006	0.003;0.05;0.006	T	0.45071	-0.9286	9	0.02654	T	1	.	1.9844	0.03433	0.3027:0.4462:0.0:0.2511	.	67;61;36	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	I	93;36;67;61;36	ENSP00000303533:T93I;ENSP00000352770:T36I;ENSP00000407262:T67I;ENSP00000399528:T61I;ENSP00000380325:T36I	ENSP00000303533:T93I	T	+	2	0	ZNF138	63929333	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-2.647000	0.00860	-0.347000	0.08299	0.195000	0.17529	ACA		0.368	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524		15	87	0	0	0	0.020292	0	15	87				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	151	0	0	0	0.021553	0	5	151				
ACSF3	197322	broad.mit.edu	37	16	89180844	89180844	+	Missense_Mutation	SNP	G	G	A	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	ENST00000317447.4	+	6	1452	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.E94K|ACSF3_ENST00000406948.3_Missense_Mutation_p.E359K	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	359			E -> K (in CMAMMA; dbSNP:rs150487794). {ECO:0000269|PubMed:21841779}.		fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637													G|||	4	0.000798722	0.0	0.0043	5008	,	,		19539	0.0		0.001	False		,,,				2504	0.0					ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(1075-1077)Gag>Aag		acyl-CoA synthetase family member 3		G	LYS/GLU,LYS/GLU	0,4396		0,0,2198	119.0	107.0	111.0		1075,1075	5.0	1.0	16	dbSNP_134	111	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	ACSF3	NM_001127214.2,NM_174917.3	56,56	0,11,6487	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging,probably-damaging	359/577,359/577	89180844	11,12985	2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89180844G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1075G>A	16.37:g.89180844G>A	ENSP00000320646:p.Glu359Lys					ACSF3_ENST00000406948.3_Missense_Mutation_p.E359K|CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.E94K	p.E359K	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	6	1452	+			359					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.1075G>A	CCDS10974.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	36|36	5.657015|5.657015	0.96724|0.96724	0.0|0.0	0.001279|0.001279	ENSG00000176715|ENSG00000176715	ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543|ENST00000543676	D;D;D;D;D;D|.	0.81499|.	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5|.	4.98|4.98	4.98|4.98	0.66077|0.66077	AMP-dependent synthetase/ligase (1);|.	0.094453|.	0.64402|.	D|.	0.000001|.	D|D	0.91670|0.91670	0.7367|0.7367	H|H	0.99475|0.99475	4.585|4.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.95450|0.95450	0.8533|0.8533	10|5	0.87932|.	D|.	0|.	-31.3607|-31.3607	18.6572|18.6572	0.91458|0.91458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	359|.	Q4G176|.	ACSF3_HUMAN|.	K|Q	94;359;94;359;94;94|106	ENSP00000439201:E94K;ENSP00000320646:E359K;ENSP00000445397:E94K;ENSP00000384627:E359K;ENSP00000367596:E94K;ENSP00000442781:E94K|.	ENSP00000320646:E359K|.	E|R	+|+	1|2	0|0	ACSF3|ACSF3	87708345|87708345	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.819000|0.819000	0.46315|0.46315	8.577000|8.577000	0.90773|0.90773	2.469000|2.469000	0.83416|0.83416	0.558000|0.558000	0.71614|0.71614	GAG|CGA		0.637	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		4	94	0	0	0	0.009096	0	4	94				
PCDHA3	56145	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	ENST00000522353.2	+	1	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHA3_ENST00000532566.2_Silent_p.S375S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1123-1125)tcC>tcT									124.0	118.0	120.0					5																	140181907		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181907C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1125C>T	5.37:g.140181907C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S375S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	p.S375S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1125	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1125C>T	CCDS54915.1																																																																																				0.483	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		39	83	0	0	0	0.086207	0	39	83				
PHB2	11331	broad.mit.edu	37	12	7077659	7077659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	ENST00000535923.1	-	4	673	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PHB2_ENST00000542912.1_Missense_Mutation_p.R131Q|PHB2_ENST00000399433.2_Missense_Mutation_p.R131Q|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000546111.1_Intron|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Missense_Mutation_p.R131Q|EMG1_ENST00000261406.6_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(391-393)cGa>cAa		prohibitin 2							86.0	89.0	88.0					12																	7077659		2120	4228	6348	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077659C>T	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.392G>A	12.37:g.7077659C>T	ENSP00000441875:p.Arg131Gln					PHB2_ENST00000399433.2_Missense_Mutation_p.R131Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R131Q|PHB2_ENST00000440277.1_Missense_Mutation_p.R131Q|PHB2_ENST00000544134.1_5'UTR	p.R131Q	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			4	673	-			131						Missense_Mutation	SNP	ENST00000535923.1	37	c.392G>A	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717517	0.96839	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.31	5.31	0.75309	.	0.000000	0.64402	U	0.000004	D	0.97498	0.9181	M	0.86805	2.84	0.80722	D	1	D;D;D	0.71674	0.976;0.996;0.998	D;D;D	0.65773	0.938;0.909;0.909	D	0.98034	1.0378	10	0.87932	D	0	-3.0117	19.3452	0.94359	0.0:1.0:0.0:0.0	.	131;131;131	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	131;131;131;131;167;142	ENSP00000441875:R131Q;ENSP00000440317:R131Q;ENSP00000382362:R131Q;ENSP00000412856:R131Q;ENSP00000441662:R167Q;ENSP00000439029:R142Q	ENSP00000382362:R131Q	R	-	2	0	PHB2	6947920	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.776000	0.85560	2.640000	0.89533	0.655000	0.94253	CGA		0.567	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		14	38	0	0	0	0.105934	0	14	38				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	3	0	0	0	0.004672	0	2	3				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	45	0	0	0	0.004672	0	3	45				
RHOD	29984	broad.mit.edu	37	11	66834308	66834308	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	ENST00000308831.2	+	3	405	c.320T>C	c.(319-321)aTc>aCc	p.I107T	RHOD_ENST00000533360.1_Missense_Mutation_p.I107T|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	107					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TTTGACAACATCTTTAACCGG	0.607																																						ENST00000308831.2																			0				lung(3)	3						c.(319-321)aTc>aCc		ras homolog family member D							114.0	103.0	107.0					11																	66834308		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834308T>C	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.320T>C	11.37:g.66834308T>C	ENSP00000308576:p.Ile107Thr					RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.I107T	p.I107T	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	405	+			107						Missense_Mutation	SNP	ENST00000308831.2	37	c.320T>C	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022827	0.35701	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.79247	-1.25;-1.25	4.57	4.57	0.56435	Small GTP-binding protein domain (1);	0.742189	0.11682	N	0.539694	T	0.80082	0.4558	M	0.77313	2.365	0.80722	D	1	B	0.17038	0.02	B	0.31101	0.124	T	0.78319	-0.2250	10	0.87932	D	0	-14.6762	10.5102	0.44857	0.0:0.0:0.0:1.0	.	107	O00212	RHOD_HUMAN	T	107	ENSP00000308576:I107T;ENSP00000431167:I107T	ENSP00000308576:I107T	I	+	2	0	RHOD	66590884	0.697000	0.27767	0.343000	0.25615	0.008000	0.06430	5.249000	0.65427	2.061000	0.61500	0.533000	0.62120	ATC		0.607	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		49	90	0	0	0	0.048971	0	49	90				
PTPRZ1	5803	broad.mit.edu	37	7	121651754	121651754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	ENST00000393386.2	+	12	3065	c.2654C>T	c.(2653-2655)gCt>gTt	p.A885V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	885					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTACTCATGCTGCTTCAGAG	0.473																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2653-2655)gCt>gTt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							91.0	81.0	84.0					7																	121651754		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651754C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2654C>T	7.37:g.121651754C>T	ENSP00000377047:p.Ala885Val					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.A885V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3065	+			885					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2654C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333921	0.60853	.	.	ENSG00000106278	ENST00000393386	T	0.54675	0.56	5.86	4.98	0.66077	.	0.159036	0.44483	D	0.000459	T	0.68146	0.2969	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71104	-0.4689	10	0.87932	D	0	.	10.5031	0.44817	0.0:0.7972:0.133:0.0698	.	885	P23471	PTPRZ_HUMAN	V	885	ENSP00000377047:A885V	ENSP00000377047:A885V	A	+	2	0	PTPRZ1	121438990	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	3.970000	0.56824	1.488000	0.48433	0.650000	0.86243	GCT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		3	53	0	0	0	0.004672	0	3	53				
MYT1	4661	broad.mit.edu	37	20	62839582	62839582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	ENST00000328439.1	+	7	1397	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Nonsense_Mutation_p.E345*	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1033-1035)Gag>Tag		myelin transcription factor 1							110.0	112.0	111.0					20																	62839582		2203	4300	6503	SO:0001587	stop_gained	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839582G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1033G>T	20.37:g.62839582G>T	ENSP00000327465:p.Glu345*					MYT1_ENST00000328439.1_Nonsense_Mutation_p.E345*|MYT1_ENST00000360149.4_Intron	p.E345*			Q01538	MYT1_HUMAN			7	1397	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		345					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000328439.1	37	c.1033G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	38	6.733463	0.97796	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	.	.	.	4.46	4.46	0.54185	.	0.067570	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.0187	17.157	0.86794	0.0:0.0:1.0:0.0	.	.	.	.	X	345	.	ENSP00000327465:E345X	E	+	1	0	MYT1	62310026	1.000000	0.71417	0.997000	0.53966	0.165000	0.22458	7.252000	0.78309	2.051000	0.60960	0.450000	0.29827	GAG		0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		53	98	1	0	1.19258e-52	0.048971	1.38231e-52	53	98				
RP11-344E13.3	0	broad.mit.edu	37	17	20805993	20805993	+	RNA	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:20805993A>G	ENST00000577537.1	+	0	1177				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							CGAACCCGTGAGAGCAGCGGC	0.632																																						ENST00000577537.1																			0																																																			0							g.chr17:20805993A>G																													17.37:g.20805993A>G						RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA								0	1177	+									RNA	SNP	ENST00000577537.1	37																																																																																						0.632	RP11-344E13.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000444041.1			15	0	0	0	0	0.028581	0	15	0				
LYST	1130	broad.mit.edu	37	1	235964233	235964233	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	ENST00000389794.3	-	9	4051	c.3877T>G	c.(3877-3879)Ttt>Gtt	p.F1293V	LYST_ENST00000536965.1_Missense_Mutation_p.F1293V|LYST_ENST00000389793.2_Missense_Mutation_p.F1293V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1293					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3877-3879)Ttt>Gtt		lysosomal trafficking regulator							62.0	62.0	62.0					1																	235964233		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964233A>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3877T>G	1.37:g.235964233A>C	ENSP00000374444:p.Phe1293Val					LYST_ENST00000389793.2_Missense_Mutation_p.F1293V|LYST_ENST00000536965.1_Missense_Mutation_p.F1293V	p.F1293V			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	4051	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1293					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3877T>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964026	0.74131	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62364	0.03;0.03;1.21	6.16	5.03	0.67393	.	0.150621	0.64402	D	0.000011	T	0.61362	0.2341	M	0.62723	1.935	0.49213	D	0.999763	P;P	0.35348	0.487;0.496	B;B	0.39503	0.301;0.105	T	0.63519	-0.6619	10	0.46703	T	0.11	.	11.3638	0.49660	0.9306:0.0:0.0694:0.0	.	1293;1293	Q99698-3;Q99698	.;LYST_HUMAN	V	1293	ENSP00000374444:F1293V;ENSP00000374443:F1293V;ENSP00000438315:F1293V	ENSP00000374443:F1293V	F	-	1	0	LYST	234030856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.000000	0.76290	2.367000	0.80283	0.528000	0.53228	TTT		0.308	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	56	0	0	0	0.004672	0	3	56				
GPR162	27239	broad.mit.edu	37	12	6933476	6933476	+	Missense_Mutation	SNP	G	G	A	rs368934487		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	ENST00000311268.3	+	2	1199	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTGCATGCCGTCATGGGCAT	0.612																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(412-414)Gtc>Atc		G protein-coupled receptor 162		G	,ILE/VAL	0,4406		0,0,2203	91.0	77.0	82.0		,412	4.3	0.9	12		82	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	GPR162	NM_014449.1,NM_019858.1	,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,possibly-damaging	,138/589	6933476	1,13005	2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933476G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.412G>A	12.37:g.6933476G>A	ENSP00000311528:p.Val138Ile					GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.V138I	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1199	+			138					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.412G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487499	0.44249	0.0	1.16E-4	ENSG00000250510	ENST00000311268	T	0.68765	-0.35	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49474	0.1559	L	0.29908	0.895	0.80722	D	1	P;P	0.43519	0.809;0.809	B;B	0.32393	0.145;0.101	T	0.51576	-0.8688	9	0.18710	T	0.47	.	16.9233	0.86168	0.0:0.0:1.0:0.0	.	138;138	B7Z3U3;Q16538	.;GP162_HUMAN	I	138	ENSP00000311528:V138I	ENSP00000311528:V138I	V	+	1	0	GPR162	6803737	1.000000	0.71417	0.917000	0.36280	0.547000	0.35210	6.604000	0.74150	2.229000	0.72834	0.491000	0.48974	GTC		0.612	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		29	118	0	0	0	0.037714	0	29	118				
PIK3R5	23533	broad.mit.edu	37	17	8789796	8789796	+	Missense_Mutation	SNP	C	C	T	rs200317598		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	ENST00000447110.1	-	13	2156	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E678K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E677K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	678	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTTACCTCGGTCTGATAG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14794	0.0		0.0	False		,,,				2504	0.0				NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2032-2034)Gag>Aag		phosphoinositide-3-kinase, regulatory subunit 5							54.0	59.0	57.0					17																	8789796		2202	4299	6501	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789796C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2032G>A	17.37:g.8789796C>T	ENSP00000392812:p.Glu678Lys					PIK3R5_ENST00000581552.1_Missense_Mutation_p.E678K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E677K	p.E678K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2156	-			678			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2032G>A	CCDS11147.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.542	1.113550	0.20795	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77877	-1.13	4.24	3.24	0.37175	.	0.056224	0.64402	D	0.000001	T	0.75752	0.3892	N	0.24115	0.695	0.52501	D	0.999955	D	0.71674	0.998	D	0.67382	0.951	T	0.69296	-0.5182	10	0.09843	T	0.71	-24.6524	13.0848	0.59133	0.0:0.6919:0.3081:0.0	.	678	Q8WYR1	PI3R5_HUMAN	K	678	ENSP00000392812:E678K	ENSP00000269300:E678K	E	-	1	0	PIK3R5	8730521	0.985000	0.35326	0.778000	0.31720	0.082000	0.17680	2.701000	0.47094	0.957000	0.37930	0.462000	0.41574	GAG		0.667	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		7	52	0	0	0	0.029380	0	7	52				
DNAH17	8632	broad.mit.edu	37	17	76510921	76510921	+	Missense_Mutation	SNP	C	C	T	rs373436522		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:76510921C>T	ENST00000585328.1	-	26	4163	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V1346M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1346	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCGCTCACGGCACGCAGG	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4036-4038)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	0,4248		0,0,2124	102.0	106.0	105.0		4048	5.3	1.0	17		105	1,8477		0,1,4238	no	missense	DNAH17	NM_173628.3	21	0,1,6362	TT,TC,CC		0.0118,0.0,0.0079		1350/4463	76510921	1,12725	2124	4239	6363	SO:0001583	missense	8632							g.chr17:76510921C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4039G>A	17.37:g.76510921C>T	ENSP00000465516:p.Val1347Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.V1347M	p.V1346M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4160	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4036G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.039173	0.75617	0.0	1.18E-4	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.63096	-0.02	5.31	5.31	0.75309	.	.	.	.	.	T	0.77425	0.4128	M	0.84846	2.72	0.44261	D	0.997114	.	.	.	.	.	.	T	0.80683	-0.1273	7	0.66056	D	0.02	.	12.3573	0.55182	0.0:0.9228:0.0:0.0772	.	.	.	.	M	1347;1346	ENSP00000374490:V1346M	ENSP00000300671:V1347M	V	-	1	0	DNAH17	74022516	0.994000	0.37717	1.000000	0.80357	0.685000	0.39939	3.237000	0.51344	2.476000	0.83614	0.563000	0.77884	GTG		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		27	41	0	0	0	0.030593	0	27	41				
VPS72	6944	broad.mit.edu	37	1	151158055	151158055	+	Silent	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	ENST00000354473.4	-	3	348	c.312G>A	c.(310-312)ccG>ccA	p.P104P	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	104					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.498																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(310-312)ccG>ccA		vacuolar protein sorting 72 homolog (S. cerevisiae)							194.0	192.0	192.0					1																	151158055		2203	4300	6503	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151158055C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.312G>A	1.37:g.151158055C>T						VPS72_ENST00000496809.1_5'UTR	p.P104P	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	348	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		104					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.312G>A	CCDS59201.1																																																																																				0.498	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		17	194	0	0	0	0.038395	0	17	194				
CHRM3	1131	broad.mit.edu	37	1	240071460	240071460	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	ENST00000255380.4	+	5	1488	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	237					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGCACAGCCATCGCTGCTTT	0.453																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(709-711)Atc>Gtc		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						93.0	98.0	96.0					1																	240071460		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071460A>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.709A>G	1.37:g.240071460A>G	ENSP00000255380:p.Ile237Val						p.I237V	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1488	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	237					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.709A>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859147	0.71834	.	.	ENSG00000133019	ENST00000255380	T	0.71698	-0.59	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.049662	0.85682	D	0.000000	T	0.72716	0.3495	L	0.28608	0.87	0.80722	D	1	P	0.51537	0.946	P	0.54590	0.756	T	0.75861	-0.3168	10	0.72032	D	0.01	-19.9669	16.6127	0.84892	1.0:0.0:0.0:0.0	.	237	P20309	ACM3_HUMAN	V	237	ENSP00000255380:I237V	ENSP00000255380:I237V	I	+	1	0	CHRM3	238138083	1.000000	0.71417	0.974000	0.42286	0.907000	0.53573	7.518000	0.81795	2.322000	0.78497	0.528000	0.53228	ATC		0.453	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		9	114	0	0	0	0.069234	0	9	114				
LRP1B	53353	broad.mit.edu	37	2	141128328	141128328	+	Silent	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	ENST00000389484.3	-	71	11930	c.10959T>C	c.(10957-10959)gaT>gaC	p.D3653D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3653	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10957-10959)gaT>gaC		low density lipoprotein receptor-related protein 1B							251.0	234.0	240.0					2																	141128328		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128328A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10959T>C	2.37:g.141128328A>G		TSP Lung(27;0.18)					p.D3653D	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	71	11930	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3653			LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10959T>C	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	206	0	0	0	0.029380	0	6	206				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	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			29	32	0	0	0	0.037714	0	29	32				
SNED1	25992	broad.mit.edu	37	2	241989284	241989284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	ENST00000310397.8	+	12	1669	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.D557N|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.D557N|SNED1_ENST00000401884.1_Missense_Mutation_p.D557N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	557	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(1669-1671)Gat>Aat		sushi, nidogen and EGF-like domains 1							62.0	69.0	67.0					2																	241989284		2149	4238	6387	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241989284G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1669G>A	2.37:g.241989284G>A	ENSP00000308893:p.Asp557Asn					SNED1_ENST00000342631.6_Missense_Mutation_p.D557N|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.D557N|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.D557N	p.D557N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	12	1669	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	557			EGF-like 7.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.1669G>A	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.772|9.772	1.172952|1.172952	0.21704|0.21704	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000401644	D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93|.	5.2|5.2	4.33|4.33	0.51752|0.51752	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.328980|.	0.25598|.	N|.	0.029571|.	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.02876|0.02876	-0.465|-0.465	0.26903|0.26903	N|N	0.967065|0.967065	D|.	0.55800|.	0.973|.	P|.	0.52514|.	0.701|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.15499|.	T|.	0.54|.	.|.	12.036|12.036	0.53425|0.53425	0.144:0.0:0.856:0.0|0.144:0.0:0.856:0.0	.|.	557|.	Q8TER0|.	SNED1_HUMAN|.	N|Q	557|253	ENSP00000384871:D557N;ENSP00000386007:D557N;ENSP00000308893:D557N;ENSP00000342992:D557N|.	ENSP00000308893:D557N|.	D|R	+|+	1|2	0|0	SNED1|SNED1	241637957|241637957	0.301000|0.301000	0.24444|0.24444	0.767000|0.767000	0.31495|0.31495	0.069000|0.069000	0.16628|0.16628	1.317000|1.317000	0.33631|0.33631	1.197000|1.197000	0.43143|0.43143	-0.126000|-0.126000	0.14955|0.14955	GAT|CGA		0.692	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		17	57	0	0	0	0.049695	0	17	57				
MGAT3	4248	broad.mit.edu	37	22	39883576	39883576	+	Missense_Mutation	SNP	A	A	G	rs200726619		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	ENST00000341184.6	+	2	439	c.224A>G	c.(223-225)tAc>tGc	p.Y75C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	75	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(223-225)tAc>tGc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							39.0	46.0	44.0					22																	39883576		2203	4299	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883576A>G	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.224A>G	22.37:g.39883576A>G	ENSP00000345270:p.Tyr75Cys						p.Y75C	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	439	+	Melanoma(58;0.04)		75			Pro-rich.		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.224A>G	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237348	0.22711	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	4.93	3.82	0.43975	.	0.623726	0.16032	N	0.232829	T	0.34919	0.0914	N	0.24115	0.695	0.30389	N	0.781179	D	0.55172	0.97	P	0.47206	0.541	T	0.32561	-0.9902	9	0.66056	D	0.02	.	11.3172	0.49399	0.8477:0.1523:0.0:0.0	.	75	Q09327	MGAT3_HUMAN	C	75;75;103	.	ENSP00000345270:Y75C	Y	+	2	0	MGAT3	38213522	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	3.646000	0.54396	1.849000	0.53698	0.383000	0.25322	TAC		0.672	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		23	75	0	0	0	0.062417	0	23	75				
MMS22L	253714	broad.mit.edu	37	6	97597800	97597800	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:97597800C>G	ENST00000275053.4	-	24	3844	c.3579G>C	c.(3577-3579)ttG>ttC	p.L1193F	MMS22L_ENST00000369251.2_Missense_Mutation_p.L1153F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1193					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGTAGAAATCAAGTGGATGA	0.408																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3577-3579)ttG>ttC		MMS22-like, DNA repair protein							115.0	107.0	110.0					6																	97597800		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97597800C>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3579G>C	6.37:g.97597800C>G	ENSP00000275053:p.Leu1193Phe					MMS22L_ENST00000369251.2_Missense_Mutation_p.L1153F	p.L1193F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			24	3844	-			1193					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3579G>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489162	0.84962	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.48201	0.82;0.82	5.98	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.61751	0.2372	M	0.71581	2.175	0.53688	D	0.999979	D;D	0.89917	1.0;0.976	D;P	0.91635	0.999;0.81	T	0.68307	-0.5443	10	0.66056	D	0.02	-20.9575	17.1053	0.86660	0.0:0.8732:0.1268:0.0	.	1153;1193	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	F	1193;1153	ENSP00000275053:L1193F;ENSP00000358254:L1153F	ENSP00000275053:L1193F	L	-	3	2	MMS22L	97704521	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.922000	0.56462	1.498000	0.48600	0.655000	0.94253	TTG		0.408	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		3	45	0	0	0	0.004672	0	3	45				
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	ENST00000269305.4	-	8	1022	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278L|TP53_ENST00000455263.2_Missense_Mutation_p.P278L	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(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	CM961376	TP53	M		c.(832-834)cCt>cTt	Other conserved DNA damage response genes	tumor protein p53							72.0	63.0	66.0					17																	7577105		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.chr17:7577105G>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.833C>T	17.37:g.7577105G>A	ENSP00000269305:p.Pro278Leu	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_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L	p.P278L	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	965	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	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.833C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814432	0.90790	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	N	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	278;278;278;278;278;267;146	ENSP00000352610:P278L;ENSP00000269305:P278L;ENSP00000398846:P278L;ENSP00000391127:P278L;ENSP00000391478:P278L;ENSP00000425104:P146L	ENSP00000269305:P278L	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	8	0	0	0	0.059317	0	37	8				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			0							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	81	0	0	0	0.021553	0	4	81				
CRISP2	7180	broad.mit.edu	37	6	49663637	49663637	+	Splice_Site	SNP	A	A	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	ENST00000339139.4	-	9	752	c.516T>C	c.(514-516)gcT>gcC	p.A172A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	172					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348																																						ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.e9-1		cysteine-rich secretory protein 2							83.0	78.0	80.0					6																	49663637		2203	4300	6503	SO:0001630	splice_region_variant	7180					extracellular space		g.chr6:49663637A>G	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.516-1T>C	6.37:g.49663637A>G							p.A172_splice	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		9	752	-	Lung NSC(77;0.0161)		172					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Splice_Site	SNP	ENST00000339139.4	37	c.515_splice	CCDS4928.1																																																																																				0.348	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296	Silent	12	25	0	0	0	0.080935	0	12	25				
PRKAR1B	5575	broad.mit.edu	37	7	751125	751125	+	Silent	SNP	G	G	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	ENST00000406797.1	-	2	192	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRKAR1B_ENST00000544935.1_Silent_p.A6A|PRKAR1B_ENST00000537384.1_Silent_p.A6A|PRKAR1B_ENST00000360274.4_Silent_p.A6A|PRKAR1B_ENST00000403562.1_Silent_p.A6A|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	6	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(16-18)gcC>gcG		protein kinase, cAMP-dependent, regulatory, type I, beta							56.0	60.0	58.0					7																	751125		2203	4300	6503	SO:0001819	synonymous_variant	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:751125G>C	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.18C>G	7.37:g.751125G>C						PRKAR1B_ENST00000360274.4_Silent_p.A6A|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000537384.1_Silent_p.A6A|PRKAR1B_ENST00000403562.1_Silent_p.A6A|PRKAR1B_ENST00000544935.1_Silent_p.A6A	p.A6A	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	2	192	-		Ovarian(82;0.0779)	6			Dimerization and phosphorylation.		Q8N422	Silent	SNP	ENST00000406797.1	37	c.18C>G	CCDS34579.1																																																																																				0.647	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			9	63	0	0	0	0.058154	0	9	63				
LYPLA2	11313	broad.mit.edu	37	1	24124673	24124673	+	IGR	SNP	G	G	A	rs200029591		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.G95G|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.001					ENST00000374497.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(283-285)ggC>ggT		UDP-galactose-4-epimerase							49.0	50.0	50.0					1																	24124673		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24124673G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124673G>A							p.G95G	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	5	376	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	95					Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	c.285C>T	CCDS241.1																																																																																				0.557	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			22	44	0	0	0	0.091800	0	22	44				
NSDHL	50814	broad.mit.edu	37	X	152034375	152034375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	ENST00000370274.3	+	6	750	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTGGGCGCCAACGATCC	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(556-558)Gcc>Acc		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						102.0	94.0	96.0					X																	152034375		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152034375G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.556G>A	X.37:g.152034375G>A	ENSP00000359297:p.Ala186Thr					NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			6	750	+	Acute lymphoblastic leukemia(192;6.56e-05)		186					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.556G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034511	0.54896	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.89196	-2.48;-2.48;-2.48	5.78	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.91972	3.26	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.93785	0.7087	10	0.59425	D	0.04	0.0387	10.0707	0.42330	0.0:0.1457:0.6996:0.1547	.	186	Q15738	NSDHL_HUMAN	T	186	ENSP00000359297:A186T;ENSP00000391854:A186T;ENSP00000396266:A186T	ENSP00000359297:A186T	A	+	1	0	NSDHL	151785031	1.000000	0.71417	0.060000	0.19600	0.126000	0.20510	7.817000	0.86213	0.571000	0.29365	0.529000	0.55759	GCC		0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		4	89	0	0	0	0.009096	0	4	89				
MMEL1	79258	broad.mit.edu	37	1	2526254	2526254	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	ENST00000378412.3	-	17	1824	c.1663C>A	c.(1663-1665)Ctt>Att	p.L555I	MMEL1_ENST00000288709.6_Missense_Mutation_p.L546I|MMEL1_ENST00000502556.1_Missense_Mutation_p.L398I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	555						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1636-1638)Ctt>Att		membrane metallo-endopeptidase-like 1							74.0	78.0	76.0					1																	2526254		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2526254G>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1663C>A	1.37:g.2526254G>T	ENSP00000367668:p.Leu555Ile					MMEL1_ENST00000502556.1_Missense_Mutation_p.L398I|MMEL1_ENST00000378412.3_Missense_Mutation_p.L555I	p.L546I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	17	1876	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	555					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1636C>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033059	0.75504	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83914	-1.78;-1.78;-1.78	4.91	3.04	0.35103	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	M	0.77712	2.385	0.80722	D	1	D	0.57257	0.979	D	0.62955	0.909	D	0.87748	0.2590	10	0.62326	D	0.03	-15.3809	10.1576	0.42831	0.1655:0.0:0.8345:0.0	.	555	Q495T6	MMEL1_HUMAN	I	398;546;555;398	ENSP00000288709:L546I;ENSP00000367668:L555I;ENSP00000422492:L398I	ENSP00000288709:L546I	L	-	1	0	MMEL1	2516114	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.038000	0.57318	0.595000	0.29777	0.655000	0.94253	CTT		0.627	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		4	68	1	0	2.56e-06	0.009096	2.90133e-06	4	68				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	44	0	0	0	0.004672	0	3	44				
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	RNA	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	ENST00000378016.2	+	0	5412							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627																																						ENST00000378016.2																			0													SCO-spondin							65.0	71.0	69.0					7																	149489167		2109	4205	6314			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489167G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489167G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5412	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				32	49	0	0	0	0.069456	0	32	49				
CD300LG	146894	broad.mit.edu	37	17	41926022	41926022	+	Missense_Mutation	SNP	G	G	A	rs115182680		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	ENST00000317310.4	+	2	181	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	CD300LG_ENST00000588884.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000586233.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R47Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R47Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	47	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19344	0.0		0.0	False		,,,				2504	0.0					ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(139-141)cGg>cAg		CD300 molecule-like family member g		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	85.0	72.0	76.0		140,140,140,140	-9.8	0.0	17	dbSNP_132	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CD300LG	NM_001168322.1,NM_001168323.1,NM_001168324.1,NM_145273.3	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	47/308,47/274,47/234,47/333	41926022	1,13005	2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41926022G>A	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.140G>A	17.37:g.41926022G>A	ENSP00000321005:p.Arg47Gln					CD300LG_ENST00000586233.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R47Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R47Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R47Q	p.R47Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	2	181	+		Breast(137;0.0199)	47			Ig-like V-type.		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.140G>A	CCDS11470.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.638	0.680192	0.14907	0.0	1.16E-4	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.89	-9.77	0.00500	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.134550	0.00897	N	0.002301	T	0.40040	0.1101	L	0.35723	1.085	0.09310	N	1	B;P;P;B;P;B	0.35612	0.434;0.512;0.512;0.171;0.512;0.302	B;B;B;B;B;B	0.26416	0.065;0.05;0.05;0.069;0.05;0.053	T	0.35822	-0.9773	10	0.24483	T	0.36	.	4.6948	0.12799	0.141:0.3559:0.4146:0.0886	.	47;47;47;47;47;47	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	Q	47	ENSP00000321005:R47Q;ENSP00000442368:R47Q;ENSP00000366408:R47Q;ENSP00000293396:R47Q	ENSP00000293396:R47Q	R	+	2	0	CD300LG	39281548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.119000	0.00291	-3.075000	0.00252	-0.878000	0.02970	CGG		0.577	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		5	78	0	0	0	0.014758	0	5	78				
PRAMEF7	441871	broad.mit.edu	37	1	12979789	12979789	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	ENST00000361079.2	+	4	1064	c.981G>T	c.(979-981)agG>agT	p.R327S	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	327					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572																																						ENST00000361079.2																			0				endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18						c.(979-981)agG>agT		PRAME family member 7							153.0	137.0	143.0					1																	12979789		2201	4297	6498	SO:0001583	missense	441871							g.chr1:12979789G>T		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.981G>T	1.37:g.12979789G>T	ENSP00000354371:p.Arg327Ser						p.R327S						UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1064	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)						B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.981G>T	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.823687	0.00589	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.33216	1.42;1.42	1.68	-0.934	0.10428	.	0.528419	0.19987	N	0.101653	T	0.06096	0.0158	N	0.00985	-1.075	0.09310	N	1	B	0.21606	0.058	B	0.18561	0.022	T	0.32981	-0.9886	10	0.02654	T	1	.	3.369	0.07213	0.0:0.1692:0.254:0.5769	.	327	Q5VXH5	PRAM7_HUMAN	S	327	ENSP00000354371:R327S;ENSP00000328915:R327S	ENSP00000328915:R327S	R	+	3	2	PRAMEF7	12902376	0.288000	0.24324	0.012000	0.15200	0.149000	0.21700	-1.142000	0.03203	-0.245000	0.09625	0.306000	0.20318	AGG		0.572	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		9	163	1	0	0.00621372	0.058154	0.00674254	9	163				
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(304-306)gGa>gAa		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							63.0	58.0	60.0					14																	37198737		2202	4299	6501	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37198737C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.305G>A	14.37:g.37198737C>T	ENSP00000329452:p.Gly102Glu					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	5	820	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		102					A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.305G>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.517007	0.04171	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.77750	-1.12;-1.12	5.88	5.0	0.66597	Mitochondrial carrier domain (2);	0.313942	0.38837	N	0.001549	T	0.62221	0.2410	L	0.33753	1.03	0.39473	D	0.967754	B	0.12013	0.005	B	0.12837	0.008	T	0.55231	-0.8173	10	0.02654	T	1	-5.904	10.1295	0.42669	0.135:0.7965:0.0:0.0685	.	102	Q9BQT8	ODC_HUMAN	E	102	ENSP00000451873:G102E;ENSP00000329452:G102E	ENSP00000329452:G102E	G	-	2	0	SLC25A21	36268488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.495000	0.48549	0.650000	0.86243	GGA		0.318	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		11	17	0	0	0	0.093190	0	11	17				
MTIF2	4528	broad.mit.edu	37	2	55479696	55479696	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	ENST00000263629.4	-	8	1073	c.758A>G	c.(757-759)gAc>gGc	p.D253G	MTIF2_ENST00000394600.3_Missense_Mutation_p.D253G|MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.D253G	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	253	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TACGACAATGTCAGTGACCTG	0.463																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(757-759)gAc>gGc		mitochondrial translational initiation factor 2							142.0	123.0	129.0					2																	55479696		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55479696T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.758A>G	2.37:g.55479696T>C	ENSP00000263629:p.Asp253Gly					MTIF2_ENST00000263629.4_Missense_Mutation_p.D253G|MTIF2_ENST00000403721.1_Missense_Mutation_p.D253G	p.D253G	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			9	1494	-			253			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.758A>G	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	T	32	5.171599	0.94807	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	D;D;D	0.84070	-1.8;-1.8;-1.8	6.07	6.07	0.98685	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95489	0.8567	10	0.87932	D	0	-18.4668	16.6407	0.85098	0.0:0.0:0.0:1.0	.	253	P46199	IF2M_HUMAN	G	253	ENSP00000384481:D253G;ENSP00000263629:D253G;ENSP00000378099:D253G	ENSP00000263629:D253G	D	-	2	0	MTIF2	55333200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.552000	0.82192	2.326000	0.78906	0.533000	0.62120	GAC		0.463	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		37	58	0	0	0	0.039052	0	37	58				
MFHAS1	9258	broad.mit.edu	37	8	8654899	8654899	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	ENST00000276282.6	-	2	3687	c.3101C>T	c.(3100-3102)cCg>cTg	p.P1034L	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1034										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(3100-3102)cCg>cTg		malignant fibrous histiocytoma amplified sequence 1							119.0	92.0	101.0					8																	8654899		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8654899G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.3101C>T	8.37:g.8654899G>A	ENSP00000276282:p.Pro1034Leu					MFHAS1_ENST00000520091.1_5'UTR	p.P1034L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	2	3687	-		Hepatocellular(245;0.217)	1034					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.3101C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200441	0.38905	.	.	ENSG00000147324	ENST00000276282	T	0.35789	1.29	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.58090	0.2098	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56426	-0.7981	10	0.59425	D	0.04	.	18.882	0.92358	0.0:0.0:1.0:0.0	.	1034	Q9Y4C4	MFHA1_HUMAN	L	1034	ENSP00000276282:P1034L	ENSP00000276282:P1034L	P	-	2	0	MFHAS1	8692309	1.000000	0.71417	0.910000	0.35882	0.955000	0.61496	9.167000	0.94773	2.703000	0.92315	0.551000	0.68910	CCG		0.557	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		20	26	0	0	0	0.055883	0	20	26				
RERE	473	broad.mit.edu	37	1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	ENST00000337907.3	-	3	791_792	c.157_158delAG	c.(157-159)agtfs	p.S53fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.S53fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.S53fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	53					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.465																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(157-159)tfs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716199_8716200delCT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.157_158delAG	1.37:g.8716201_8716202delCT	ENSP00000338629:p.Ser53fs					RERE_ENST00000400907.2_Frame_Shift_Del_p.S53fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.S53fs	p.S53fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	791_792	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	53					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.157_158delAG	CCDS95.1																																																																																				0.465	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			115	286						115	286	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201047179	201047181	+	In_Frame_Del	DEL	TCT	TCT	-	rs9333651		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	ENST00000362061.3	-	11	1671_1673	c.1445_1447delAGA	c.(1444-1449)aagatg>atg	p.K482del	CACNA1S_ENST00000367338.3_In_Frame_Del_p.K482del	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	482					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1444-1449)atg>a		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001651	inframe_deletion	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047179_201047181delTCT	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1445_1447delAGA	1.37:g.201047179_201047181delTCT	ENSP00000355192:p.Lys482del					CACNA1S_ENST00000367338.3_In_Frame_Del_p.KM482del	p.KM482del	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1671_1673	-			482					A4IF51|B1ALM2|Q12896|Q13934	In_Frame_Del	DEL	ENST00000362061.3	37	c.1445_1447delAGA	CCDS1407.1																																																																																				0.571	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		37	70						37	70	---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	ENST00000404537.1	-	7	2497_2498	c.2441_2442delAT	c.(2440-2442)catfs	p.H814fs	OBSL1_ENST00000373873.4_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.H401fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.H814fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	814	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGAACACATGTTCTCGGGG	0.594																																						ENST00000404537.1																			0											c.(2440-2442)cfs		obscurin-like 1																																				SO:0001589	frameshift_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220428315_220428316delAT	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2441_2442delAT	2.37:g.220428315_220428316delAT	ENSP00000385636:p.His814fs					OBSL1_ENST00000373876.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.H401fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.H814fs	p.H814fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	7	2497_2498	-		Renal(207;0.0376)	814			Ig-like 6.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	ENST00000404537.1	37	c.2441_2442delAT	CCDS46520.1																																																																																				0.594	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			67	99						67	99	---	---	---	---
CCDC6	8030	broad.mit.edu	37	10	61612347	61612349	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	ENST00000263102.6	-	2	646_648	c.415_417delGAA	c.(415-417)gaadel	p.E139del		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	139	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.E139delE(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.36			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	1	Deletion - In frame(1)	p.E139delE(1)	breast(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(415-417)del		coiled-coil domain containing 6																																				SO:0001651	inframe_deletion	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61612347_61612349delTTC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.415_417delGAA	10.37:g.61612353_61612355delTTC	ENSP00000263102:p.Glu139del						p.E139del	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	2	646_648	-			139			5 X 29 AA tandem repeats.		Q15250|Q6GSG7	In_Frame_Del	DEL	ENST00000263102.6	37	c.415_417delGAA	CCDS7257.1																																																																																				0.360	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		31	65						31	65	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	ENST00000377865.2	-	1	1042_1043	c.908_909delTT	c.(907-909)tttfs	p.F303fs	PCDH9_ENST00000328454.5_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000544246.1_Frame_Shift_Del_p.F303fs			Q9HC56	PCDH9_HUMAN	protocadherin 9	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(907-909)tfs		protocadherin 9																																				SO:0001589	frameshift_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801664_67801665delAA	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.908_909delTT	13.37:g.67801664_67801665delAA	ENSP00000367096:p.Phe303fs					PCDH9_ENST00000328454.5_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377865.2_Frame_Shift_Del_p.F303fs	p.F303fs	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1599_1600	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	303			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Frame_Shift_Del	DEL	ENST00000377865.2	37	c.908_909delTT	CCDS9444.1																																																																																				0.465	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		37	62						37	62	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		5	6						5	6	---	---	---	---
ZC3H7A	29066	broad.mit.edu	37	16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	ENST00000396516.2	-	9	1145_1146	c.948_949delTC	c.(946-951)tctcctfs	p.P317fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.P317fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	317						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGCATGCTAGGAGAGACACTGG	0.485																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(946-951)tcctfs		zinc finger CCCH-type containing 7A																																				SO:0001589	frameshift_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11864798_11864799delGA	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.948_949delTC	16.37:g.11864802_11864803delGA	ENSP00000379773:p.Pro317fs					ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.SP316fs	p.SP316fs			Q8IWR0	Z3H7A_HUMAN			9	1145_1146	-			316					D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	37	c.948_949delTC	CCDS10550.1																																																																																				0.485	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		29	80						29	80	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29541467	29541468	+	Splice_Site	DEL	AG	AG	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	ENST00000358273.4	+	13	1775		c.e13-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e13-1		neurofibromin 1																																				SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541467_29541468delAG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1393-1AG>-	17.37:g.29541469_29541470delAG		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1775	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	ENST00000358273.4	37		CCDS42292.1																																																																																				0.292	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	11	21						11	21	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576134	29576134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	ENST00000358273.4	+	30	4490	c.4107delC	c.(4105-4107)tacfs	p.Y1369fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.Y1369fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1369	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4105-4107)tafs		neurofibromin 1							155.0	141.0	146.0					17																	29576134		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576134delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4107delC	17.37:g.29576134delC	ENSP00000351015:p.Tyr1369fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.Y1369fs	p.Y1369fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4490	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1369			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4107delC	CCDS42292.1																																																																																				0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		22	93						22	93	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60140577	60140579	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	ENST00000397786.2	-	2	226_228	c.150_152delAGA	c.(148-153)gaagac>gac	p.E50del		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	50					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAATGGGGTCTTCTTCTGTCA	0.443																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(148-153)gac>ga		mediator complex subunit 13																																				SO:0001651	inframe_deletion	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60140577_60140579delTCT	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.150_152delAGA	17.37:g.60140583_60140585delTCT	ENSP00000380888:p.Glu50del						p.ED50del	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			2	226_228	-			50					B2RU05|O60334	In_Frame_Del	DEL	ENST00000397786.2	37	c.150_152delAGA	CCDS42366.1																																																																																				0.443	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		12	140						12	140	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48198169	48198171	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	ENST00000396720.3	+	9	3102_3104	c.2908_2910delATC	c.(2908-2910)atcdel	p.I971del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	971										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.68																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2908-2910)del		glioma tumor suppressor candidate region gene 1																																				SO:0001651	inframe_deletion	29998						protein binding	g.chr19:48198169_48198171delATC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2908_2910delATC	19.37:g.48198172_48198174delATC	ENSP00000379946:p.Ile971del					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.I971del	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	9	3102_3104	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	971					A8MW01	In_Frame_Del	DEL	ENST00000396720.3	37	c.2908_2910delATC	CCDS46134.1																																																																																				0.680	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		8	39						8	39	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	ENST00000263121.7	+	8	1260_1261	c.1064_1065delCT	c.(1063-1065)actfs	p.T355fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000344921.6_Frame_Shift_Del_p.T364fs|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(1090-1092)afs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1																																				SO:0001589	frameshift_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24175836_24175837delCT	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1064_1065delCT	22.37:g.24175838_24175839delCT	ENSP00000263121:p.Thr355fs					SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs	p.T364fs			Q12824	SNF5_HUMAN			8	1298_1299	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	355					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Del	DEL	ENST00000263121.7	37	c.1091_1092delCT	CCDS13817.1																																																																																				0.634	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		13	131						13	131	---	---	---	---
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	ENST00000247138.5	-	4	637_638	c.634_635delTC	c.(634-636)tccfs	p.S213fs	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.S213fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	213			S -> F (in CDG2M). {ECO:0000269|PubMed:24115232}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(634-636)cfs		solute carrier family 35 (UDP-galactose transporter), member A2																																				SO:0001589	frameshift_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762551_48762552delGA	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.634_635delTC	X.37:g.48762555_48762556delGA	ENSP00000247138:p.Ser213fs					SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.S213fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron	p.S213fs	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN			4	955_956	-			213					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	ENST00000247138.5	37	c.634_635delTC	CCDS14311.1																																																																																				0.649	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		5	5						5	5	---	---	---	---
