#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
MDGA2	161357	broad.mit.edu	37	14	47426601	47426601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:47426601C>T	ENST00000399232.2	-	9	2222	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MDGA2_ENST00000357362.3_Missense_Mutation_p.G391R|MDGA2_ENST00000426342.1_Missense_Mutation_p.G391R|MDGA2_ENST00000439988.3_Missense_Mutation_p.G689R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	620	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGCATCTCCCAGCTCCAGCT	0.358																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1171-1173)Ggg>Agg		MAM domain containing glycosylphosphatidylinositol anchor 2							75.0	74.0	74.0					14																	47426601		1845	4088	5933	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426601C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1858G>A	14.37:g.47426601C>T	ENSP00000382178:p.Gly620Arg					MDGA2_ENST00000357362.3_Missense_Mutation_p.G391R|MDGA2_ENST00000439988.2_Missense_Mutation_p.G620R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G689R	p.G391R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1917	-			620			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1171G>A		.	.	.	.	.	.	.	.	.	.	C	24.3	4.516561	0.85495	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.3	5.3	0.74995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000072	T	0.61022	0.2314	L	0.57536	1.79	0.80722	D	1	P;P	0.44627	0.839;0.785	P;P	0.54590	0.642;0.756	T	0.59915	-0.7364	10	0.46703	T	0.11	.	17.5214	0.87787	0.0:1.0:0.0:0.0	.	391;620	F6W3S7;Q7Z553	.;MDGA2_HUMAN	R	620;391;689;391	ENSP00000400011:G620R;ENSP00000405456:G391R;ENSP00000382178:G689R;ENSP00000349925:G391R	ENSP00000349925:G391R	G	-	1	0	MDGA2	46496351	1.000000	0.71417	0.956000	0.39512	0.955000	0.61496	5.482000	0.66833	2.490000	0.84030	0.650000	0.86243	GGG		0.358	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		14	22	0	0	0	1	0	14	22				
ZMYM2	7750	broad.mit.edu	37	13	20635254	20635254	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:20635254T>C	ENST00000382874.2	+	18	2991	c.2801T>C	c.(2800-2802)aTt>aCt	p.I934T	ZMYM2_ENST00000382869.3_Missense_Mutation_p.I934T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I934T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CCTGCAGCAATTGAGGAGCTA	0.418																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2800-2802)aTt>aCt		zinc finger, MYM-type 2							65.0	63.0	64.0					13																	20635254		1908	4135	6043	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20635254T>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2801T>C	13.37:g.20635254T>C	ENSP00000372327:p.Ile934Thr					ZMYM2_ENST00000382870.2_Missense_Mutation_p.I314T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I934T|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I934T	p.I934T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	17	3052	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	934					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2801T>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084295	0.36758	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25579	1.79	5.54	0.351	0.16042	.	0.478647	0.24109	N	0.041466	T	0.24044	0.0582	M	0.65677	2.01	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.72032	D	0.01	-0.3207	7.797	0.29154	0.0:0.1485:0.1183:0.7332	.	934	Q9UBW7	ZMYM2_HUMAN	T	934;934;932;932;312	ENSP00000372322:I934T	ENSP00000372322:I934T	I	+	2	0	ZMYM2	19533254	0.594000	0.26849	0.001000	0.08648	0.865000	0.49528	1.959000	0.40412	0.135000	0.18707	0.533000	0.62120	ATT		0.418	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		12	8	0	0	0	1	0	12	8				
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"""		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(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	CX952222	TP53	X		c.(646-648)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							123.0	111.0	115.0					17																	7578203		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.chr17:7578203C>T	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	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.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	p.V216M	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)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	2	0	0	0	1	0	27	2				
ZSCAN31	64288	broad.mit.edu	37	6	28294587	28294587	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:28294587C>G	ENST00000414429.1	-	8	1480	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E193Q|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E193Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E34Q|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E193Q			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	193					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)										TTTAAGATTTCTTGCTTTGAT	0.363																																						ENST00000414429.1																			0											c.(577-579)Gaa>Caa		zinc finger and SCAN domain containing 31							60.0	65.0	63.0					6																	28294587		2203	4299	6502	SO:0001583	missense	64288							g.chr6:28294587C>G		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.577G>C	6.37:g.28294587C>G	ENSP00000390076:p.Glu193Gln					ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E193Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E193Q|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E193Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E34Q	p.E193Q							8	1480	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.577G>C	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	5.520	0.280800	0.10458	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	T;T;T;T;T;T;T;T;T	0.61627	3.41;3.41;3.41;3.37;3.41;3.45;5.84;4.03;0.09	4.62	4.62	0.57501	.	.	.	.	.	T	0.28896	0.0717	L	0.43923	1.385	0.09310	N	1	P	0.38827	0.649	B	0.37833	0.259	T	0.26573	-1.0099	9	0.07325	T	0.83	.	14.954	0.71098	0.0:1.0:0.0:0.0	.	193	Q96LW9	ZN323_HUMAN	Q	193;193;193;34;193;34;34;193;77	ENSP00000380050:E193Q;ENSP00000413705:E193Q;ENSP00000390076:E193Q;ENSP00000402937:E34Q;ENSP00000345339:E193Q;ENSP00000391235:E34Q;ENSP00000407529:E34Q;ENSP00000389479:E193Q;ENSP00000398680:E77Q	ENSP00000345339:E193Q	E	-	1	0	ZNF323	28402566	0.000000	0.05858	0.091000	0.20842	0.308000	0.27856	0.015000	0.13355	2.091000	0.63221	0.467000	0.42956	GAA		0.363	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		22	41	0	0	0	1	0	22	41				
CASKIN1	57524	broad.mit.edu	37	16	2230409	2230409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2230409C>T	ENST00000343516.6	-	18	3052	c.2960G>A	c.(2959-2961)aGt>aAt	p.S987N	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	987	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAGGTCACTGGCCCGCCG	0.716																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(2959-2961)aGt>aAt		CASK interacting protein 1							4.0	5.0	5.0					16																	2230409		1657	3599	5256	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2230409C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2960G>A	16.37:g.2230409C>T	ENSP00000345436:p.Ser987Asn						p.S987N	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	3052	-			987			Pro-rich.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.2960G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637737	0.47049	.	.	ENSG00000167971	ENST00000343516	T	0.41758	0.99	3.32	3.32	0.38043	.	.	.	.	.	T	0.42921	0.1224	L	0.59436	1.845	0.58432	D	0.999994	P	0.43633	0.813	B	0.42188	0.379	T	0.53837	-0.8382	9	0.87932	D	0	-13.6596	13.7055	0.62636	0.0:1.0:0.0:0.0	.	987	Q8WXD9	CSKI1_HUMAN	N	987	ENSP00000345436:S987N	ENSP00000345436:S987N	S	-	2	0	CASKIN1	2170410	1.000000	0.71417	0.985000	0.45067	0.544000	0.35116	7.093000	0.76937	1.852000	0.53769	0.195000	0.17529	AGT		0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		6	6	0	0	0	1	0	6	6				
IGLV3-22	28795	broad.mit.edu	37	22	23047176	23047176	+	RNA	SNP	C	C	T	rs181740395	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr22:23047176C>T	ENST00000390307.2	+	0	278									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		AGATAGTGAGCGGTACCCTGG	0.547																																						ENST00000390307.2																			0																				56.0	63.0	60.0					22																	23047176		1938	4127	6065			0							g.chr22:23047176C>T	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047176C>T														0	278	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.547	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		23	35	0	0	0	1	0	23	35				
SETX	23064	broad.mit.edu	37	9	135202372	135202372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:135202372C>T	ENST00000224140.5	-	10	4795	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	SETX_ENST00000393220.1_Missense_Mutation_p.R1538Q|SETX_ENST00000372169.2_Missense_Mutation_p.R1538Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1538					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAACTGAGGCCGACTTACAGA	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(4612-4614)cGg>cAg		senataxin							80.0	74.0	76.0					9																	135202372		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202372C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4613G>A	9.37:g.135202372C>T	ENSP00000224140:p.Arg1538Gln					SETX_ENST00000224140.5_Missense_Mutation_p.R1538Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1538Q	p.R1538Q			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4795	-		Myeloproliferative disorder(178;0.204)	1538					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4613G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282848	0.10458	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86562	-2.05;-2.14;-1.75	5.21	-7.08	0.01558	.	14.099100	0.00166	N	0.000000	T	0.71617	0.3361	N	0.17674	0.51	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.64058	-0.6496	10	0.10377	T	0.69	.	3.9484	0.09358	0.1249:0.3411:0.0726:0.4615	.	1538;1538;1538	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1538	ENSP00000224140:R1538Q;ENSP00000361242:R1538Q;ENSP00000376913:R1538Q	ENSP00000224140:R1538Q	R	-	2	0	SETX	134192193	0.000000	0.05858	0.003000	0.11579	0.069000	0.16628	-1.076000	0.03420	-1.323000	0.02275	-0.797000	0.03246	CGG		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		23	28	0	0	0	1	0	23	28				
NLRC4	58484	broad.mit.edu	37	2	32476671	32476671	+	Splice_Site	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:32476671C>T	ENST00000404025.2	-	5	751		c.e5-1		NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Splice_Site			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAAAAGACCTATTAGAGAA	0.448																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.e5-1		NLR family, CARD domain containing 4							45.0	47.0	46.0					2																	32476671		2168	4265	6433	SO:0001630	splice_region_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476671C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.263-1G>A	2.37:g.32476671C>T						NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Splice_Site				Q9NPP4	NLRC4_HUMAN			5	751	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)							A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Splice_Site	SNP	ENST00000404025.2	37		CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	9.696	1.153191	0.21371	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.36	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6934	0.40143	0.0:0.8904:0.0:0.1096	.	.	.	.	.	-1	.	.	.	-	.	.	NLRC4	32330175	0.899000	0.30636	0.216000	0.23742	0.009000	0.06853	1.572000	0.36461	0.750000	0.32877	0.543000	0.68304	.		0.448	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	Intron	22	27	0	0	0	1	0	22	27				
PDE11A	50940	broad.mit.edu	37	2	178682596	178682596	+	Nonsense_Mutation	SNP	G	G	A	rs374570863	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:178682596G>A	ENST00000286063.6	-	8	1950	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.R187*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.R187*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.R295*|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.R101*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	545	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCAAAAAGTCGTTGATCTGCA	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				G|||	3	0.000599042	0.0008	0.0	5008	,	,		16735	0.0		0.0	False		,,,				2504	0.002					ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1633-1635)Cga>Tga		phosphodiesterase 11A		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	80.0	86.0	84.0		301,883,559,1633	4.0	1.0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	101/490,295/684,187/576,545/934	178682596	1,13005	2203	4300	6503	SO:0001587	stop_gained	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178682596G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1633C>T	2.37:g.178682596G>A	ENSP00000286063:p.Arg545*					PDE11A_ENST00000409504.1_Nonsense_Mutation_p.R187*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.R187*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.R101*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.R295*	p.R545*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		8	1950	-			545			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Nonsense_Mutation	SNP	ENST00000286063.6	37	c.1633C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393253	0.83011	0.0	1.16E-4	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.	.	.	5.82	3.97	0.46021	.	0.317546	0.31450	N	0.007635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9636	0.58472	0.0:0.0:0.5617:0.4383	.	.	.	.	X	545;295;187;101;187	.	ENSP00000286063:R545X	R	-	1	2	PDE11A	178390842	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.099000	0.41767	0.746000	0.32786	-0.309000	0.09137	CGA		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			20	9	0	0	0	1	0	20	9				
NUP155	9631	broad.mit.edu	37	5	37364077	37364077	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:37364077C>G	ENST00000231498.3	-	3	508	c.305G>C	c.(304-306)tGt>tCt	p.C102S	NUP155_ENST00000381843.2_Missense_Mutation_p.C43S|NUP155_ENST00000513532.1_Missense_Mutation_p.C102S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	102					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGCAATTACACTGCATATC	0.373																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(304-306)tGt>tCt		nucleoporin 155kDa							157.0	138.0	144.0					5																	37364077		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37364077C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.305G>C	5.37:g.37364077C>G	ENSP00000231498:p.Cys102Ser					NUP155_ENST00000381843.2_Missense_Mutation_p.C43S|NUP155_ENST00000513532.1_Missense_Mutation_p.C102S	p.C102S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	508	-	all_lung(31;0.000137)		102					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.305G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482078	0.63849	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.43294	0.95;0.95;0.95	5.89	5.89	0.94794	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.041416	0.85682	D	0.000000	T	0.41903	0.1179	L	0.38838	1.175	0.80722	D	1	B;B	0.17268	0.019;0.021	B;B	0.32762	0.134;0.152	T	0.16335	-1.0406	10	0.21540	T	0.41	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	102;102	E9PF10;O75694	.;NU155_HUMAN	S	102;43;64;102	ENSP00000231498:C102S;ENSP00000371265:C43S;ENSP00000422019:C102S	ENSP00000231498:C102S	C	-	2	0	NUP155	37399834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.368000	0.59505	2.783000	0.95769	0.655000	0.94253	TGT		0.373	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		28	39	0	0	0	1	0	28	39				
MTMR6	9107	broad.mit.edu	37	13	25840284	25840284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:25840284C>T	ENST00000381801.5	-	4	1206	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MTMR6_ENST00000540661.1_Missense_Mutation_p.A149T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	149	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCCGGTTGGCATCAGACAAC	0.453																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(445-447)Gcc>Acc		myotubularin related protein 6							93.0	81.0	85.0					13																	25840284		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840284C>T	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.445G>A	13.37:g.25840284C>T	ENSP00000371221:p.Ala149Thr					MTMR6_ENST00000540661.1_Missense_Mutation_p.A149T	p.A149T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	4	1206	-		Lung SC(185;0.0225)|Breast(139;0.0351)	149			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.445G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213144	0.58452	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.93076	-3.16;-3.16	5.54	4.69	0.59074	Myotubularin phosphatase domain (1);	0.109108	0.64402	D	0.000004	D	0.89164	0.6637	L	0.34521	1.04	0.51767	D	0.999938	B;B	0.09022	0.002;0.002	B;B	0.15870	0.006;0.014	D	0.86098	0.1554	10	0.66056	D	0.02	.	13.7916	0.63146	0.0:0.9269:0.0:0.0731	.	149;149	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	T	149	ENSP00000443161:A149T;ENSP00000371221:A149T	ENSP00000371221:A149T	A	-	1	0	MTMR6	24738284	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.718000	0.68455	2.614000	0.88457	0.650000	0.86243	GCC		0.453	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		3	23	0	0	0	1	0	3	23				
NLRP9	338321	broad.mit.edu	37	19	56244772	56244772	+	Missense_Mutation	SNP	G	G	A	rs571820588		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:56244772G>A	ENST00000332836.2	-	2	452	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	142						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCTAGCCGCAGCAGTATA	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.0					ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(424-426)gCg>gTg		NLR family, pyrin domain containing 9							95.0	93.0	94.0					19																	56244772		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244772G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.425C>T	19.37:g.56244772G>A	ENSP00000331857:p.Ala142Val						p.A142V	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	452	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	142					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.425C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	6.342	0.431200	0.12045	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73575	-0.76	2.66	-5.33	0.02713	.	.	.	.	.	T	0.42585	0.1209	N	0.08118	0	0.09310	N	1	B	0.33238	0.403	B	0.26310	0.068	T	0.28332	-1.0047	9	0.44086	T	0.13	.	1.3869	0.02242	0.3293:0.1137:0.3728:0.1841	.	142	Q7RTR0	NALP9_HUMAN	V	142	ENSP00000331857:A142V	ENSP00000331857:A142V	A	-	2	0	NLRP9	60936584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.845000	0.04340	-1.795000	0.01255	-1.129000	0.01985	GCG		0.433	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		36	52	0	0	0	1	0	36	52				
FGD5	152273	broad.mit.edu	37	3	14861759	14861759	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:14861759G>C	ENST00000285046.5	+	1	1291	c.1181G>C	c.(1180-1182)tGt>tCt	p.C394S	FGD5_ENST00000543601.1_Missense_Mutation_p.C153S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	394					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGCTTTGTGTGGCCAGTGT	0.617																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1180-1182)tGt>tCt		FYVE, RhoGEF and PH domain containing 5							28.0	33.0	31.0					3																	14861759		1975	4147	6122	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861759G>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1181G>C	3.37:g.14861759G>C	ENSP00000285046:p.Cys394Ser					FGD5_ENST00000543601.1_Missense_Mutation_p.C153S	p.C394S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1291	+			394					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1181G>C	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	4.990	0.183771	0.09495	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.73258	-0.73;-0.57	4.45	-0.483	0.12075	.	1.690410	0.03146	N	0.167306	T	0.47507	0.1449	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.18461	-1.0336	10	0.19590	T	0.45	4.5284	1.3863	0.02241	0.2341:0.2729:0.3461:0.1469	.	153;394	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	S	394;153	ENSP00000285046:C394S;ENSP00000445949:C153S	ENSP00000285046:C394S	C	+	2	0	FGD5	14836763	0.002000	0.14202	0.005000	0.12908	0.114000	0.19823	0.844000	0.27654	-0.001000	0.14495	0.478000	0.44815	TGT		0.617	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		17	22	0	0	0	1	0	17	22				
NDST3	9348	broad.mit.edu	37	4	118975505	118975505	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:118975505G>A	ENST00000296499.5	+	2	843	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	NDST3_ENST00000433996.2_Missense_Mutation_p.R147Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	147	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCTGGAATCGAAGCCTTCTA	0.343																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(439-441)cGa>cAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							42.0	43.0	43.0					4																	118975505		2203	4297	6500	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975505G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.440G>A	4.37:g.118975505G>A	ENSP00000296499:p.Arg147Gln					NDST3_ENST00000433996.2_Missense_Mutation_p.R147Q	p.R147Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	843	+			147			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.440G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468494	0.63625	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.56444	0.85;0.46	5.3	5.3	0.74995	.	0.054626	0.64402	D	0.000001	T	0.56978	0.2022	M	0.86268	2.805	0.39867	D	0.973453	B;B;B	0.34147	0.239;0.438;0.196	B;B;B	0.31245	0.057;0.126;0.021	T	0.66256	-0.5969	10	0.72032	D	0.01	.	13.2646	0.60127	0.0761:0.0:0.9239:0.0	.	147;147;147	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	Q	147	ENSP00000296499:R147Q;ENSP00000396625:R147Q	ENSP00000296499:R147Q	R	+	2	0	NDST3	119194953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.853000	0.62911	2.464000	0.83262	0.655000	0.94253	CGA		0.343	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		15	20	0	0	0	1	0	15	20				
FGA	2243	broad.mit.edu	37	4	155507658	155507658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:155507658C>T	ENST00000302053.3	-	5	1001	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_ENST00000403106.3_Missense_Mutation_p.R308Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	308					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.R308Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.R308Q(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(922-924)cGa>cAa		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100.0	109.0	106.0					4																	155507658		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507658C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.923G>A	4.37:g.155507658C>T	ENSP00000306361:p.Arg308Gln					FGA_ENST00000403106.3_Missense_Mutation_p.R308Q	p.R308Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1001	-	all_hematologic(180;0.215)	Renal(120;0.0458)	308					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.923G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	5.922	0.354234	0.11182	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.81330	-1.48;-1.48	4.7	1.38	0.22167	.	2.197700	0.01544	N	0.019365	T	0.55529	0.1926	N	0.02011	-0.69	0.09310	N	1	B;B	0.17268	0.021;0.008	B;B	0.06405	0.002;0.001	T	0.51156	-0.8741	10	0.25106	T	0.35	.	2.1934	0.03905	0.1734:0.4852:0.1707:0.1707	.	308;308	P02671-2;P02671	.;FIBA_HUMAN	Q	308	ENSP00000306361:R308Q;ENSP00000385981:R308Q	ENSP00000306361:R308Q	R	-	2	0	FGA	155727108	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.747000	0.26290	0.380000	0.24823	-0.300000	0.09419	CGA		0.572	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		85	104	0	0	0	1	0	85	104				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	20	1	0	5.9392e-07	1	6.16332e-07	4	20				
GK2	2712	broad.mit.edu	37	4	80327904	80327904	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:80327904A>G	ENST00000358842.3	-	1	1468	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAATCGTTCCATCCTGAGAAC	0.507																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1450-1452)aTg>aCg		glycerol kinase 2							135.0	127.0	130.0					4																	80327904		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327904A>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1451T>C	4.37:g.80327904A>G	ENSP00000351706:p.Met484Thr						p.M484T	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1468	-			484					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1451T>C	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.657343	0.00108	.	.	ENSG00000196475	ENST00000358842	D	0.89552	-2.53	4.11	0.242	0.15498	.	0.660669	0.16045	N	0.232258	T	0.72700	0.3493	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53816	-0.8385	10	0.14252	T	0.57	-4.4267	0.5401	0.00644	0.4498:0.1787:0.1986:0.1729	.	484	Q14410	GLPK2_HUMAN	T	484	ENSP00000351706:M484T	ENSP00000351706:M484T	M	-	2	0	GK2	80546928	0.873000	0.30073	0.014000	0.15608	0.173000	0.22820	1.581000	0.36558	0.057000	0.16193	0.477000	0.44152	ATG		0.507	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		53	63	0	0	0	1	0	53	63				
SPTB	6710	broad.mit.edu	37	14	65258514	65258514	+	Silent	SNP	G	G	A	rs200197418		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:65258514G>A	ENST00000389721.5	-	14	2759	c.2727C>T	c.(2725-2727)ctC>ctT	p.L909L	SPTB_ENST00000389722.3_Silent_p.L909L|SPTB_ENST00000556626.1_Silent_p.L909L|SPTB_ENST00000542895.1_Silent_p.L909L|SPTB_ENST00000389720.3_Silent_p.L909L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	909					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTTGGCAGCGAGGTTCACAC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17925	0.001		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2725-2727)ctC>ctT		spectrin, beta, erythrocytic		G	,	0,4406		0,0,2203	146.0	106.0	120.0		2727,2727	-9.9	0.0	14		120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	909/2138,909/2329	65258514	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65258514G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2727C>T	14.37:g.65258514G>A						SPTB_ENST00000389721.5_Silent_p.L909L|SPTB_ENST00000542895.1_Silent_p.L909L|SPTB_ENST00000556626.1_Silent_p.L909L|SPTB_ENST00000389720.3_Silent_p.L909L	p.L909L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	14	2780	-		all_lung(585;4.15e-09)	909					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2727C>T	CCDS32100.1																																																																																				0.557	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			19	21	0	0	0	1	0	19	21				
POLR2E	5434	broad.mit.edu	37	19	1090943	1090943	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:1090943C>T	ENST00000215587.7	-	4	676	c.393G>A	c.(391-393)ctG>ctA	p.L131L	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.L131L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	131					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGCTGCAGAAACTGCT	0.667																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(391-393)ctG>ctA		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							64.0	60.0	61.0					19																	1090943		2203	4300	6503	SO:0001819	synonymous_variant	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1090943C>T		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.393G>A	19.37:g.1090943C>T						POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.L131L	p.L131L			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	676	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	131					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	ENST00000215587.7	37	c.393G>A	CCDS12056.1																																																																																				0.667	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		14	33	0	0	0	1	0	14	33				
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	lincRNA	SNP	C	C	T	rs200984414		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318																																						ENST00000369381.2																			0																																																			0							g.chr1:142713407C>T																													1.37:g.142713407C>T														0	1198	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.318	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	10	0	0	0	1	0	5	10				
KCNH1	3756	broad.mit.edu	37	1	210856965	210856965	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:210856965C>G	ENST00000271751.4	-	11	2655	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	KCNH1_ENST00000367007.4_Missense_Mutation_p.K849N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	876					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGAGTCTGTCTTCTTCAGTG	0.592																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2545-2547)aaG>aaC		potassium voltage-gated channel, subfamily H (eag-related), member 1							92.0	86.0	88.0					1																	210856965		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856965C>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2628G>C	1.37:g.210856965C>G	ENSP00000271751:p.Lys876Asn					KCNH1_ENST00000271751.4_Missense_Mutation_p.K876N	p.K849N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2716	-			876					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2547G>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765728	0.69878	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99735	-6.55;-6.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.68593	2.085	0.54753	D	0.999988	D;D	0.63880	0.993;0.986	D;D	0.63703	0.917;0.909	D	0.98050	1.0387	10	0.56958	D	0.05	.	11.6345	0.51196	0.0:0.9185:0.0:0.0815	.	849;876	Q14CL3;O95259	.;KCNH1_HUMAN	N	876;849	ENSP00000271751:K876N;ENSP00000355974:K849N	ENSP00000271751:K876N	K	-	3	2	KCNH1	208923588	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.138000	0.50570	2.290000	0.77057	0.561000	0.74099	AAG		0.592	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		24	49	0	0	0	1	0	24	49				
SLC16A3	9123	broad.mit.edu	37	17	80195561	80195561	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:80195561C>T	ENST00000581287.1	+	3	3237	c.915C>T	c.(913-915)aaC>aaT	p.N305N	SLC16A3_ENST00000392339.1_Silent_p.N305N|SLC16A3_ENST00000392341.1_Silent_p.N305N|SLC16A3_ENST00000582743.1_Silent_p.N305N	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	305					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TGTTCTTCAACGGCCTCGCGG	0.652																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(913-915)aaC>aaT		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						63.0	67.0	66.0					17																	80195561		2203	4299	6502	SO:0001819	synonymous_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195561C>T	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.915C>T	17.37:g.80195561C>T						SLC16A3_ENST00000392339.1_Silent_p.N305N|SLC16A3_ENST00000392341.1_Silent_p.N305N|SLC16A3_ENST00000582743.1_Silent_p.N305N	p.N305N	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	3237	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		305					B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	c.915C>T	CCDS11804.1																																																																																				0.652	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		29	65	0	0	0	1	0	29	65				
MYT1L	23040	broad.mit.edu	37	2	1843079	1843079	+	Silent	SNP	G	G	A	rs200125635	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:1843079G>A	ENST00000399161.2	-	21	3669	c.2922C>T	c.(2920-2922)agC>agT	p.S974S	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.S972S|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	974					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCGGAGGCGCTGCGATGGG	0.632													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		16931	0.0		0.001	False		,,,				2504	0.0					ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2920-2922)agC>agT		myelin transcription factor 1-like		G		12,4054		0,12,2021	47.0	55.0	53.0		2916	-1.1	0.9	2		53	0,8300		0,0,4150	no	coding-synonymous	MYT1L	NM_015025.2		0,12,6171	AA,AG,GG		0.0,0.2951,0.097		972/1185	1843079	12,12354	2033	4150	6183	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843079G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2922C>T	2.37:g.1843079G>A						MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.S972S	p.S974S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3669	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	974					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2922C>T																																																																																					0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		29	37	0	0	0	1	0	29	37				
AP3S1	1176	broad.mit.edu	37	5	115177767	115177767	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:115177767C>T	ENST00000316788.7	+	1	590	c.33C>T	c.(31-33)caC>caT	p.H11H	ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	11					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TCAACAACCACGGGAAGCCGC	0.706																																						ENST00000316788.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(31-33)caC>caT		adaptor-related protein complex 3, sigma 1 subunit							14.0	15.0	15.0					5																	115177767		2201	4298	6499	SO:0001819	synonymous_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115177767C>T	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.33C>T	5.37:g.115177767C>T							p.H11H	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	1	590	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	11					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Silent	SNP	ENST00000316788.7	37	c.33C>T	CCDS4123.1																																																																																				0.706	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			6	4	0	0	0	1	0	6	4				
C7orf55	154791	broad.mit.edu	37	7	139030301	139030301	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:139030301A>C	ENST00000297534.6	+	2	446	c.193A>C	c.(193-195)Acc>Ccc	p.T65P	C7orf55_ENST00000481123.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Missense_Mutation_p.T65P	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	65						mitochondrion (GO:0005739)				breast(1)|lung(2)	3						CCAAGCTGCCACCTATCTCTG	0.512																																						ENST00000541515.3																			0				NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16						c.(193-195)Acc>Ccc		LUC7-like 2 (S. cerevisiae)							86.0	76.0	79.0					7																	139030301		2203	4300	6503	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139030301A>C	AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"""formation of mitochondrial complexes 1 homolog (S. cerevisiae)"""					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.193A>C	7.37:g.139030301A>C	ENSP00000297534:p.Thr65Pro					C7orf55_ENST00000481123.1_3'UTR|C7orf55_ENST00000297534.6_Missense_Mutation_p.T65P|C7orf55-LUC7L2_ENST00000541170.3_Intron	p.T65P	NM_001244584.1	NP_001231513.1	Q9Y383	LC7L2_HUMAN			2	218	+	Melanoma(164;0.242)		0					B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	37	c.193A>C	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166799	0.78339	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.52526	0.66;1.23	5.52	3.13	0.36017	.	.	.	.	.	T	0.67002	0.2847	M	0.82323	2.585	0.50813	D	0.999892	D;P	0.65815	0.995;0.853	D;P	0.70487	0.969;0.549	T	0.67795	-0.5578	9	0.87932	D	0	-1.4548	9.7949	0.40728	0.859:0.0:0.141:0.0	.	65;65	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	P	65	ENSP00000297534:T65P;ENSP00000440222:T65P	ENSP00000297534:T65P	T	+	1	0	LUC7L2;C7orf55	138680841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.129000	0.57957	0.379000	0.24794	0.455000	0.32223	ACC		0.512	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1	NM_197964		59	63	0	0	0	1	0	59	63				
MYH6	4624	broad.mit.edu	37	14	23855275	23855275	+	Silent	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:23855275G>A	ENST00000356287.3	-	33	5054	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	MYH6_ENST00000405093.3_Silent_p.I1675I|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1675					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGCTCCACGATGGCGATGT	0.637																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5023-5025)atC>atT		myosin, heavy chain 6, cardiac muscle, alpha							80.0	66.0	71.0					14																	23855275		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855275G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5025C>T	14.37:g.23855275G>A						MYH6_ENST00000356287.3_Silent_p.I1675I	p.I1675I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	34	5095	-	all_cancers(95;2.54e-05)		1675					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.5025C>T	CCDS9600.1																																																																																				0.637	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			18	28	0	0	0	1	0	18	28				
R3HDML	140902	broad.mit.edu	37	20	42979326	42979326	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr20:42979326A>G	ENST00000217043.2	+	5	828	c.656A>G	c.(655-657)tAc>tGc	p.Y219C	RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.2_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	219						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTCCCCGTACAAGATGGGA	0.532																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(655-657)tAc>tGc		R3H domain containing-like							103.0	90.0	95.0					20																	42979326		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42979326A>G	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.656A>G	20.37:g.42979326A>G	ENSP00000217043:p.Tyr219Cys					RP5-881L22.5_ENST00000438702.1_RNA	p.Y219C	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	828	+		Myeloproliferative disorder(115;0.028)	219						Missense_Mutation	SNP	ENST00000217043.2	37	c.656A>G	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717308	0.48622	.	.	ENSG00000101074	ENST00000217043	T	0.43688	0.94	4.93	4.93	0.64822	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.82641	-0.0357	10	0.87932	D	0	.	14.2623	0.66092	1.0:0.0:0.0:0.0	.	219	Q9H3Y0	CRSPL_HUMAN	C	219	ENSP00000217043:Y219C	ENSP00000217043:Y219C	Y	+	2	0	R3HDML	42412740	1.000000	0.71417	0.793000	0.32043	0.048000	0.14542	6.758000	0.74929	1.858000	0.53909	0.459000	0.35465	TAC		0.532	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		33	39	0	0	0	1	0	33	39				
CCNF	899	broad.mit.edu	37	16	2499351	2499351	+	Missense_Mutation	SNP	C	C	A	rs151164394		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2499351C>A	ENST00000397066.4	+	12	1375	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	429					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAACCCAGCACCTGTGCAGCT	0.662																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1285-1287)caC>caA		cyclin F							61.0	58.0	59.0					16																	2499351		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2499351C>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1287C>A	16.37:g.2499351C>A	ENSP00000380256:p.His429Gln						p.H429Q	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			12	1375	+		Ovarian(90;0.17)	429					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1287C>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903117	0.72754	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.23552	1.9	5.43	3.35	0.38373	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.65975	2.015	0.53688	D	0.999974	D	0.69078	0.997	D	0.68483	0.958	T	0.20571	-1.0271	10	0.42905	T	0.14	-32.1628	7.4063	0.26993	0.0:0.7145:0.0:0.2855	.	429	P41002	CCNF_HUMAN	Q	429;344	ENSP00000380256:H429Q	ENSP00000293968:H344Q	H	+	3	2	CCNF	2439352	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.912000	0.28597	1.155000	0.42497	0.563000	0.77884	CAC		0.662	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		13	20	1	0	0.00010058	1	0.000102442	13	20				
TLR4	7099	broad.mit.edu	37	9	120475558	120475558	+	Silent	SNP	C	C	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:120475558C>A	ENST00000355622.6	+	3	1253	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G	TLR4_ENST00000394487.4_Silent_p.G344G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	384					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTAGAAATGGCTTGAGTTTCA	0.383																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1150-1152)ggC>ggA		toll-like receptor 4							52.0	54.0	54.0					9																	120475558		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475558C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1152C>A	9.37:g.120475558C>A						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G344G	p.G384G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1253	+			384					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1152C>A	CCDS6818.1																																																																																				0.383	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		19	30	1	0	1.96292e-10	1	2.11688e-10	19	30				
GUCA1B	2979	broad.mit.edu	37	6	42162502	42162502	+	Silent	SNP	C	C	T	rs368778664		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:42162502C>T	ENST00000230361.3	-	1	152	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCTGGAGCTCCGCCACATCTA	0.562																																						ENST00000230361.3																			0				large_intestine(3)|lung(3)|skin(2)	8						c.(55-57)gcG>gcA		guanylate cyclase activator 1B (retina)		C		1,4405	2.1+/-5.4	0,1,2202	60.0	46.0	51.0		57	-7.9	0.0	6		51	0,8600		0,0,4300	no	coding-synonymous	GUCA1B	NM_002098.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		19/201	42162502	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2979				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42162502C>T	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.57G>A	6.37:g.42162502C>T							p.A19A	NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)		1	152	-	Colorectal(47;0.196)		19			EF-hand 1.		Q9NU15	Silent	SNP	ENST00000230361.3	37	c.57G>A	CCDS4865.1																																																																																				0.562	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		6	8	0	0	0	1	0	6	8				
DNAH1	25981	broad.mit.edu	37	3	52428569	52428569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:52428569G>A	ENST00000420323.2	+	67	10976	c.10715G>A	c.(10714-10716)cGa>cAa	p.R3572Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTTGGCGAGACATCCTA	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10714-10716)cGa>cAa		dynein, axonemal, heavy chain 1							96.0	104.0	101.0					3																	52428569		2048	4201	6249	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52428569G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10715G>A	3.37:g.52428569G>A	ENSP00000401514:p.Arg3572Gln						p.R3572Q	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	67	10976	+			3637					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10715G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052379	0.36181	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.07908	3.15	5.15	5.15	0.70609	.	0.213498	0.31145	N	0.008167	T	0.05227	0.0139	N	0.04705	-0.18	0.32735	N	0.508502	B;D	0.57571	0.024;0.98	B;P	0.45099	0.019;0.469	T	0.35549	-0.9784	10	0.19147	T	0.46	.	13.0066	0.58707	0.0771:0.0:0.9229:0.0	.	3572;3637	C9JXH6;Q9P2D7-2	.;.	Q	3572;325	ENSP00000401514:R3572Q	ENSP00000273600:R325Q	R	+	2	0	DNAH1	52403609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	2.415000	0.81967	0.655000	0.94253	CGA		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		20	36	0	0	0	1	0	20	36				
LCT	3938	broad.mit.edu	37	2	136566631	136566631	+	Missense_Mutation	SNP	C	C	T	rs146467199	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:136566631C>T	ENST00000264162.2	-	8	3296	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTGATGACGGCGTGGGCTATC	0.552													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18902	0.0		0.002	False		,,,				2504	0.0					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3286-3288)Gcc>Acc		lactase		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	51.0	55.0	53.0		3286	2.5	0.4	2	dbSNP_134	53	11,8589	7.7+/-29.5	0,11,4289	yes	missense	LCT	NM_002299.2	58	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	benign	1096/1928	136566631	12,12994	2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566631C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3286G>A	2.37:g.136566631C>T	ENSP00000264162:p.Ala1096Thr						p.A1096T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3296	-			1096	A -> T (in Ref. 1; CAA30801).		4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3286G>A	CCDS2178.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	0.097	-1.157599	0.01686	2.27E-4	0.001279	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	5.78	2.55	0.30701	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.350989	0.35124	N	0.003423	T	0.16938	0.0407	N	0.01197	-0.965	0.24081	N	0.995945	B	0.18013	0.025	B	0.21917	0.037	T	0.23297	-1.0192	10	0.19147	T	0.46	-8.6741	7.3791	0.26845	0.0:0.5689:0.0:0.4311	.	1096	P09848	LPH_HUMAN	T	1096;528	ENSP00000264162:A1096T	ENSP00000264162:A1096T	A	-	1	0	LCT	136283101	0.995000	0.38212	0.373000	0.26003	0.005000	0.04900	1.141000	0.31528	0.770000	0.33336	0.563000	0.77884	GCC		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		18	29	0	0	0	1	0	18	29				
CYP2C19	1557	broad.mit.edu	37	10	96612622	96612622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr10:96612622G>A	ENST00000371321.3	+	9	1506	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	475					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GTTGTCAATGGATTTGCTTCT	0.473																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1423-1425)gGa>gAa		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						175.0	153.0	161.0					10																	96612622		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612622G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1424G>A	10.37:g.96612622G>A	ENSP00000360372:p.Gly475Glu					CYP2C19_ENST00000464755.1_3'UTR	p.G475E	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1506	+		Colorectal(252;0.09)	475					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1424G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.236277	0.39498	.	.	ENSG00000165841	ENST00000371321	T	0.13089	2.62	3.1	1.01	0.19927	.	0.639161	0.13784	U	0.363025	T	0.40595	0.1123	M	0.92367	3.3	0.09310	N	1	P	0.39748	0.686	P	0.59056	0.851	T	0.23226	-1.0194	10	0.72032	D	0.01	.	7.3537	0.26706	0.0:0.1826:0.6297:0.1877	.	475	P33261	CP2CJ_HUMAN	E	475	ENSP00000360372:G475E	ENSP00000360372:G475E	G	+	2	0	CYP2C19	96602612	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.908000	0.28545	-0.045000	0.13468	0.603000	0.83216	GGA		0.473	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		40	8	0	0	0	1	0	40	8				
EDAR	10913	broad.mit.edu	37	2	109527457	109527457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:109527457C>T	ENST00000258443.2	-	7	1031	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	EDAR_ENST00000409271.1_Missense_Mutation_p.A201T|EDAR_ENST00000376651.1_Missense_Mutation_p.A201T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	201					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						aggacgatggcgatggccatg	0.577																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(601-603)Gcc>Acc		ectodysplasin A receptor							155.0	125.0	136.0					2																	109527457		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109527457C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.601G>A	2.37:g.109527457C>T	ENSP00000258443:p.Ala201Thr					EDAR_ENST00000376651.1_Missense_Mutation_p.A201T|EDAR_ENST00000258443.2_Missense_Mutation_p.A201T	p.A201T			Q9UNE0	EDAR_HUMAN			8	1044	-			201					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.601G>A	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270209	0.95429	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.92099	-2.9;-2.97;-2.9	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.95556	0.8625	10	0.51188	T	0.08	-32.0264	18.4941	0.90858	0.0:1.0:0.0:0.0	.	201;201	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	201	ENSP00000386371:A201T;ENSP00000258443:A201T;ENSP00000365839:A201T	ENSP00000258443:A201T	A	-	1	0	EDAR	108893889	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	5.522000	0.67092	2.377000	0.81083	0.561000	0.74099	GCC		0.577	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			16	21	0	0	0	1	0	16	21				
TPPP	11076	broad.mit.edu	37	5	665358	665358	+	Silent	SNP	C	C	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:665358C>A	ENST00000360578.5	-	4	640	c.519G>T	c.(517-519)acG>acT	p.T173T	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	173					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGGGAGCCCGTGAACTTGG	0.632																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(517-519)acG>acT		tubulin polymerization promoting protein							66.0	59.0	61.0					5																	665358		2203	4300	6503	SO:0001819	synonymous_variant	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:665358C>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.519G>T	5.37:g.665358C>A						CEP72_ENST00000514507.1_3'UTR	p.T173T	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	4	640	-		Ovarian(839;0.0563)	173						Silent	SNP	ENST00000360578.5	37	c.519G>T	CCDS3856.1																																																																																				0.632	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		3	34	1	0	0.004672	1	0.004672	3	34				
MSLNL	401827	broad.mit.edu	37	16	823215	823215	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:823215A>G	ENST00000442466.1	-	9	999	c.1000T>C	c.(1000-1002)Tgc>Cgc	p.C334R	MSLNL_ENST00000293892.3_Missense_Mutation_p.C685R|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	334					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGAGGATGCAGCCATCCAGG	0.632																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2053-2055)Tgc>Cgc		mesothelin-like							56.0	65.0	62.0					16																	823215		2154	4238	6392	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:823215A>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1000T>C	16.37:g.823215A>G	ENSP00000415767:p.Cys334Arg					MSLNL_ENST00000442466.1_Missense_Mutation_p.C334R	p.C685R			Q96KJ4	MSLNL_HUMAN			10	2052	-			334						Missense_Mutation	SNP	ENST00000442466.1	37	c.2053T>C		.	.	.	.	.	.	.	.	.	.	a	0.003	-2.503885	0.00155	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.10860	2.83;2.83;2.83	4.19	-0.762	0.11034	.	1.739250	0.02578	N	0.098548	T	0.04998	0.0134	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	9	0.15952	T	0.53	-5.8592	0.8056	0.01083	0.1954:0.1408:0.2836:0.3802	.	334	Q96KJ4	MSLNL_HUMAN	R	384;334;685	ENSP00000441381:C384R;ENSP00000415767:C334R;ENSP00000293892:C685R	ENSP00000293892:C685R	C	-	1	0	MSLNL	763216	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.020000	0.13466	-0.107000	0.12088	-0.258000	0.10820	TGC		0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		24	32	0	0	0	1	0	24	32				
TAAR5	9038	broad.mit.edu	37	6	132910545	132910545	+	Missense_Mutation	SNP	C	C	T	rs201248908		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:132910545C>T	ENST00000258034.2	-	1	332	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		15901	0.0		0.001	False		,,,				2504	0.0					ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(280-282)cGc>cAc		trace amine associated receptor 5		C	HIS/ARG	0,4406		0,0,2203	112.0	121.0	118.0		281	4.6	0.5	6		118	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TAAR5	NM_003967.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	94/338	132910545	3,13003	2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910545C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.281G>A	6.37:g.132910545C>T	ENSP00000258034:p.Arg94His						p.R94H	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	332	-	Breast(56;0.112)		94					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.281G>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401721	0.42613	0.0	3.49E-4	ENSG00000135569	ENST00000258034	T	0.37058	1.22	5.43	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.093498	0.44285	N	0.000477	T	0.32585	0.0834	M	0.82323	2.585	0.22842	N	0.99867	P	0.38300	0.626	B	0.41236	0.351	T	0.28427	-1.0044	10	0.72032	D	0.01	-17.3358	14.3146	0.66440	0.0:0.9291:0.0:0.0709	.	94	O14804	TAAR5_HUMAN	H	94	ENSP00000258034:R94H	ENSP00000258034:R94H	R	-	2	0	TAAR5	132952238	0.006000	0.16342	0.456000	0.27044	0.886000	0.51366	2.336000	0.43938	1.531000	0.49152	0.655000	0.94253	CGC		0.587	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		27	47	0	0	0	1	0	27	47				
OR9G1	390174	broad.mit.edu	37	11	56468437	56468437	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr11:56468437G>A	ENST00000312153.1	+	1	574	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCGAGAAGGGCGGCTATAA	0.478																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(574-576)Ggc>Agc		olfactory receptor, family 9, subfamily G, member 1							118.0	119.0	118.0					11																	56468437		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468437G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.574G>A	11.37:g.56468437G>A	ENSP00000309012:p.Gly192Ser						p.G192S	NM_001005213.1	NP_001005213.1					1	574	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.574G>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	1.113	-0.657722	0.03454	.	.	ENSG00000174914	ENST00000312153	T	0.00039	8.85	4.52	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	1.015660	0.07883	N	0.969790	T	0.00039	0.0001	N	0.00149	-1.99	0.09310	N	1	B	0.23540	0.087	B	0.36766	0.232	T	0.17018	-1.0383	10	0.34782	T	0.22	-0.0095	3.7007	0.08382	0.1482:0.0:0.4432:0.4086	.	192	Q8NH87	OR9G1_HUMAN	S	192	ENSP00000309012:G192S	ENSP00000309012:G192S	G	+	1	0	OR9G1	56225013	0.036000	0.19791	0.002000	0.10522	0.009000	0.06853	0.279000	0.18771	1.182000	0.42928	0.573000	0.79308	GGC		0.478	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		25	56	0	0	0	1	0	25	56				
PLAG1	5324	broad.mit.edu	37	8	57079207	57079207	+	Silent	SNP	G	G	A	rs199920673		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr8:57079207G>A	ENST00000316981.3	-	5	1577	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	PLAG1_ENST00000423799.2_Silent_p.G284G|PLAG1_ENST00000429357.2_Silent_p.G366G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	366	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366G(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAGAGGGCACGCCACCTTGTA	0.458			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	2	Substitution - coding silent(2)	p.G366G(2)	lung(2)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1096-1098)ggC>ggT		pleiomorphic adenoma gene 1							130.0	124.0	126.0					8																	57079207		2203	4300	6503	SO:0001819	synonymous_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079207G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1098C>T	8.37:g.57079207G>A						PLAG1_ENST00000423799.2_Silent_p.G284G|PLAG1_ENST00000429357.2_Silent_p.G366G	p.G366G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1577	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	366			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	ENST00000316981.3	37	c.1098C>T	CCDS6165.1																																																																																				0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		92	66	0	0	0	1	0	92	66				
KRT6B	3854	broad.mit.edu	37	12	52842747	52842747	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:52842747T>C	ENST00000252252.3	-	6	1129	c.1082A>G	c.(1081-1083)gAg>gGg	p.E361G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	361	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCAGCTCCTCGTACTGCAG	0.537																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1081-1083)gAg>gGg		keratin 6B							112.0	87.0	95.0					12																	52842747		2203	4292	6495	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52842747T>C	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1082A>G	12.37:g.52842747T>C	ENSP00000252252:p.Glu361Gly						p.E361G	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	6	1129	-			361			Coil 2.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1082A>G	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148478	0.37923	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87966	-2.32	2.99	2.99	0.34606	Filament (1);	0.000000	0.64402	D	0.000011	D	0.85860	0.5795	M	0.62209	1.925	0.46222	D	0.99893	B	0.24426	0.103	B	0.33960	0.173	D	0.85345	0.1098	10	0.56958	D	0.05	.	11.794	0.52088	0.0:0.0:0.0:1.0	.	361	P04259	K2C6B_HUMAN	G	361;321	ENSP00000252252:E361G	ENSP00000252252:E361G	E	-	2	0	KRT6B	51129014	0.996000	0.38824	0.998000	0.56505	0.536000	0.34869	4.617000	0.61204	1.616000	0.50265	0.254000	0.18369	GAG		0.537	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		37	54	0	0	0	1	0	37	54				
AIPL1	23746	broad.mit.edu	37	17	6329143	6329143	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:6329143C>T	ENST00000381129.3	-	6	872	c.792G>A	c.(790-792)gtG>gtA	p.V264V	AIPL1_ENST00000574506.1_Silent_p.V252V|AIPL1_ENST00000576776.1_Silent_p.V240V|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000576307.1_Silent_p.V204V|AIPL1_ENST00000250087.5_Silent_p.V201V|AIPL1_ENST00000570466.1_Silent_p.V242V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	264					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTAGGCCTTCACGATGCCTG	0.657																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(790-792)gtG>gtA		aryl hydrocarbon receptor interacting protein-like 1							24.0	24.0	24.0					17																	6329143		2200	4299	6499	SO:0001819	synonymous_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6329143C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.792G>A	17.37:g.6329143C>T						AIPL1_ENST00000250087.5_Silent_p.V201V|AIPL1_ENST00000570466.1_Silent_p.V242V|AIPL1_ENST00000576776.1_Silent_p.V240V|AIPL1_ENST00000576307.1_Silent_p.V204V|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Silent_p.V252V	p.V264V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	872	-			264					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	c.792G>A	CCDS11075.1																																																																																				0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		21	4	0	0	0	1	0	21	4				
ADH1A	124	broad.mit.edu	37	4	100205899	100205899	+	Silent	SNP	C	C	T	rs538543042		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:100205899C>T	ENST00000209668.2	-	4	434	c.321G>A	c.(319-321)ccG>ccA	p.P107P	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	107					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTTGCTCTCCGGGTTTTTAC	0.418													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20590	0.0		0.0	False		,,,				2504	0.0					ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(319-321)ccG>ccA		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						110.0	108.0	109.0					4																	100205899		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205899C>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.321G>A	4.37:g.100205899C>T						RP11-696N14.1_ENST00000500358.2_RNA	p.P107P	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	434	-			107					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.321G>A	CCDS3648.1																																																																																				0.418	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		18	26	0	0	0	1	0	18	26				
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:117723945C>T	ENST00000338101.4	-	5	1258	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000317775.6_Silent_p.S418S|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCACACAGCGCGAGGCATTCC	0.562																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1252-1254)tcG>tcA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						130.0	131.0	130.0					12																	117723945		2168	4298	6466	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723945C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1254G>A	12.37:g.117723945C>T						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	p.S418S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1939	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		418						Silent	SNP	ENST00000338101.4	37	c.1254G>A	CCDS55890.1																																																																																				0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			31	51	0	0	0	1	0	31	51				
AP001347.6	0	broad.mit.edu	37	21	15399864	15399864	+	RNA	SNP	T	T	C	rs2298673	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr21:15399864T>C	ENST00000428809.1	+	0	123				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							TGTGACCTGCTGGCATTGAAT	0.587													t|||	1278	0.255192	0.0378	0.2666	5008	,	,		17406	0.5159		0.1958	False		,,,				2504	0.3333					ENST00000428809.1																			0																																																			0							g.chr21:15399864T>C																													21.37:g.15399864T>C														0	123	+									RNA	SNP	ENST00000428809.1	37																																																																																						0.587	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			3	39	0	0	0	1	0	3	39				
TMPRSS11F	389208	broad.mit.edu	37	4	68925146	68925146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:68925146delG	ENST00000356291.2	-	9	1115	c.1056delC	c.(1054-1056)accfs	p.T352fs	UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	352	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAGTGCTTATGGTTTCCACTC	0.363																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(1054-1056)acfs		transmembrane protease, serine 11F							195.0	168.0	178.0					4																	68925146		2203	4300	6503	SO:0001589	frameshift_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68925146delG	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1056delC	4.37:g.68925146delG	ENSP00000348639:p.Thr352fs					RP11-453E17.1_ENST00000500538.2_RNA	p.T352fs	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			9	1115	-			352			Peptidase S1.		A8MXX2	Frame_Shift_Del	DEL	ENST00000356291.2	37	c.1056delC	CCDS3520.1																																																																																				0.363	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		21	30						21	30	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	6						3	6	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			5	5						5	5	---	---	---	---
