#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
TMEM217	221468	broad.mit.edu	37	6	37186593	37186593	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:37186593A>G	ENST00000336655.2	-	2	253	c.214T>C	c.(214-216)Tct>Cct	p.S72P	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S72P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	72						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						GTGATGAAAGACAGGAAGAGG	0.438																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(214-216)Tct>Cct		transmembrane protein 217							225.0	222.0	223.0					6																	37186593		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186593A>G		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.214T>C	6.37:g.37186593A>G	ENSP00000338164:p.Ser72Pro					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S72P	p.S72P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	253	-			72					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.214T>C	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239533	0.58995	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	T	0.46367	0.1389	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.982	T	0.37842	-0.9688	8	0.87932	D	0	-28.6886	10.9138	0.47124	1.0:0.0:0.0:0.0	.	72;72	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	P	72	.	ENSP00000338164:S72P	S	-	1	0	TMEM217	37294571	0.514000	0.26202	0.020000	0.16555	0.007000	0.05969	1.647000	0.37260	2.143000	0.66587	0.496000	0.49642	TCT		0.438	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		5	141	0	0	0	1	0	5	141				
ABCG1	9619	broad.mit.edu	37	21	43704748	43704748	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:43704748C>T	ENST00000361802.2	+	7	958	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ABCG1_ENST00000398437.1_Silent_p.C417C|ABCG1_ENST00000347800.2_Silent_p.C268C|ABCG1_ENST00000398449.3_Silent_p.C271C|ABCG1_ENST00000343687.3_Silent_p.C282C|ABCG1_ENST00000340588.4_Silent_p.C379C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.C273C	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	271	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCATTTGCACCATCCACC	0.642																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1249-1251)tgC>tgT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						84.0	80.0	82.0					21																	43704748		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704748C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.813C>T	21.37:g.43704748C>T						ABCG1_ENST00000398449.3_Silent_p.C271C|ABCG1_ENST00000398457.2_Silent_p.C273C|ABCG1_ENST00000361802.2_Silent_p.C271C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.C379C|ABCG1_ENST00000347800.2_Silent_p.C268C|ABCG1_ENST00000343687.3_Silent_p.C282C	p.C417C			P45844	ABCG1_HUMAN			8	1399	+			271			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.1251C>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545364	0.27652	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.22	1.23	0.21249	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52719	-0.8538	4	.	.	.	-35.0058	10.1244	0.42641	0.0:0.7586:0.0:0.2414	.	.	.	.	Y	7	.	.	H	+	1	0	ABCG1	42577817	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.757000	0.26433	0.334000	0.23590	0.591000	0.81541	CAC		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		4	121	0	0	0	1	0	4	121				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					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 transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	221	0	0	0	1	0	4	221				
DMRT2	10655	broad.mit.edu	37	9	1056823	1056823	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	ENST00000358146.2	+	3	1236	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Silent_p.T412T|DMRT2_ENST00000302441.6_Silent_p.T412T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	412					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(1234-1236)acC>acT		doublesex and mab-3 related transcription factor 2							116.0	109.0	111.0					9																	1056823		2203	4300	6503	SO:0001819	synonymous_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056823C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1236C>T	9.37:g.1056823C>T						DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Silent_p.T412T|DMRT2_ENST00000358146.2_Silent_p.T412T|DMRT2_ENST00000259622.6_3'UTR	p.T412T			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1565	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	412					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	c.1236C>T	CCDS6444.1																																																																																				0.577	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		49	49	0	0	0	1	0	49	49				
GATA1	2623	broad.mit.edu	37	X	48650342	48650342	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	ENST00000376670.3	+	3	423	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GATA1_ENST00000376665.3_Silent_p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	104					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	ENST00000376670.3				Dom	yes		X	Xp11.23	2623	"""Mis, F"""	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		3	Unknown(2)|Complex - deletion inframe(1)	p.?(2)|p.V77_A120>A(1)	haematopoietic_and_lymphoid_tissue(3)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(310-312)taC>taT		GATA binding protein 1 (globin transcription factor 1)							53.0	49.0	50.0					X																	48650342		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650342C>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.312C>T	X.37:g.48650342C>T						GATA1_ENST00000376665.3_Silent_p.Y104Y	p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN			3	423	+			104					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.312C>T	CCDS14305.1																																																																																				0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		12	51	0	0	0	1	0	12	51				
MGAM	8972	broad.mit.edu	37	7	141708343	141708343	+	Silent	SNP	G	G	A	rs574663869	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:141708343G>A	ENST00000549489.2	+	3	260	c.165G>A	c.(163-165)ggG>ggA	p.G55G	MGAM_ENST00000475668.2_Silent_p.G55G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	55	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATCCTGGGACAACTGGTA	0.473													G|||	4	0.000798722	0.003	0.0	5008	,	,		16699	0.0		0.0	False		,,,				2504	0.0					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(163-165)ggG>ggA		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						70.0	66.0	67.0					7																	141708343		1839	4089	5928	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141708343G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.165G>A	7.37:g.141708343G>A						MGAM_ENST00000549489.2_Silent_p.G55G	p.G55G			O43451	MGA_HUMAN			3	219	+	Melanoma(164;0.0272)		55			Ser/Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.165G>A	CCDS47727.1																																																																																				0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	26	0	0	0	1	0	4	26				
MIR297	100126354	broad.mit.edu	37	4	111781769	111781769	+	RNA	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:111781769A>G	ENST00000401142.1	-	0	34					NR_030643.1				microRNA 297																		atatatatgtatatacacata	0.328																																						ENST00000401142.1																			0																				67.0	66.0	66.0					4																	111781769		1568	3580	5148			0							g.chr4:111781769A>G			4q25	2011-09-12		2008-12-18	ENSG00000215961	ENSG00000215961		"""ncRNAs / Micro RNAs"""	33691	non-coding RNA	RNA, micro		615520		MIRN297			Standard	NR_030643		Approved	hsa-mir-297					4.37:g.111781769A>G								NR_030643.1						0	34	-									RNA	SNP	ENST00000401142.1	37																																																																																						0.328	MIR297-201	KNOWN	basic	miRNA	miRNA		NR_030643		15	44	0	0	0	1	0	15	44				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	23	0	0	0	1	0	3	23				
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	ENST00000397770.3	-	11	725	c.708G>A	c.(706-708)gcG>gcA	p.A236A	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.A215A|RGS11_ENST00000359740.5_Silent_p.A225A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(706-708)gcG>gcA		regulator of G-protein signaling 11							80.0	75.0	77.0					16																	321439		2203	4300	6503	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321439C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.708G>A	16.37:g.321439C>T						ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A	p.A236A			O94810	RGS11_HUMAN			11	725	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	236			G protein gamma.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.708G>A	CCDS42088.1																																																																																				0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			9	44	0	0	0	1	0	9	44				
KNOP1	400506	broad.mit.edu	37	16	19726120	19726120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:19726120C>A	ENST00000219837.7	-	2	316	c.238G>T	c.(238-240)Gag>Tag	p.E80*	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	80	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTACATGCTCCTCGCAAAGG	0.542																																						ENST00000219837.7																			0											c.(238-240)Gag>Tag		lysine-rich nucleolar protein 1							68.0	67.0	67.0					16																	19726120		2045	4200	6245	SO:0001587	stop_gained	400506							g.chr16:19726120C>A	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.238G>T	16.37:g.19726120C>A	ENSP00000219837:p.Glu80*					AC002550.5_ENST00000565916.1_RNA	p.E80*	NM_001012991.2	NP_001013009.2					2	316	-								O43328|Q5FWF3	Nonsense_Mutation	SNP	ENST00000219837.7	37	c.238G>T	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627656	0.46944	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.61	4.61	0.57282	.	2.404440	0.01400	N	0.013550	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0293	13.1209	0.59325	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	.	E	-	1	0	C16orf88	19633621	0.003000	0.15002	0.042000	0.18584	0.008000	0.06430	0.336000	0.19823	2.533000	0.85409	0.561000	0.74099	GAG		0.542	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		13	51	1	0	0.0167234	1	0.0167234	13	51				
SHKBP1	92799	broad.mit.edu	37	19	41096328	41096328	+	Splice_Site	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	ENST00000291842.5	+	16	1817	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	SHKBP1_ENST00000600733.1_Splice_Site_p.A565T|LTBP4_ENST00000545697.1_5'Flank|LTBP4_ENST00000204005.9_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	590					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.e16+1		SH3KBP1 binding protein 1							13.0	17.0	16.0					19																	41096328		2187	4276	6463	SO:0001630	splice_region_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096328G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1768+1G>A	19.37:g.41096328G>A						SHKBP1_ENST00000600733.1_Splice_Site_p.A565_splice	p.A590_splice	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	1817	+			590					Q8N2I6|Q8WY93|Q96IB8	Splice_Site	SNP	ENST00000291842.5	37	c.1768_splice	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915916	0.52546	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.46451	0.87	4.41	4.41	0.53225	.	0.269446	0.31450	N	0.007630	T	0.32224	0.0822	L	0.46157	1.445	0.34569	D	0.713176	B;B;B;P	0.35155	0.027;0.029;0.003;0.487	B;B;B;B	0.31101	0.015;0.009;0.003;0.124	T	0.42882	-0.9425	10	0.16896	T	0.51	-2.588	12.8406	0.57800	0.0:0.0:1.0:0.0	.	468;370;590;590	B4DLI0;B4DUW2;B2R6W9;Q8TBC3	.;.;.;SHKB1_HUMAN	T	590;370	ENSP00000291842:A590T	ENSP00000291842:A590T	A	+	1	0	SHKBP1	45788168	.	.	1.000000	0.80357	0.824000	0.46624	.	.	2.162000	0.67917	0.462000	0.41574	GCA		0.682	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	Missense_Mutation	7	22	0	0	0	1	0	7	22				
EGFR	1956	broad.mit.edu	37	7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	ENST00000275493.2	+	7	944	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_ENST00000454757.2_Missense_Mutation_p.D203G|EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAATTCCGAGACGAAGCCACG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.D256A(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(766-768)gAc>gGc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						200.0	157.0	172.0					7																	55221723		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221723A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.767A>G	7.37:g.55221723A>G	ENSP00000275493:p.Asp256Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G|EGFR_ENST00000454757.2_Missense_Mutation_p.D203G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G	p.D256G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	944	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		256					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.767A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720000	0.68844	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.99;0.996;1.0;0.997;0.988	D	0.86749	0.1959	10	0.66056	D	0.02	.	14.9899	0.71377	1.0:0.0:0.0:0.0	.	211;256;256;256;256	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	G	211;256;126;256;256;256;256;203;50	ENSP00000415559:D211G;ENSP00000342376:D256G;ENSP00000345973:D256G;ENSP00000413843:D256G;ENSP00000275493:D256G;ENSP00000410031:D256G;ENSP00000395243:D203G	ENSP00000275493:D256G	D	+	2	0	EGFR	55189217	1.000000	0.71417	0.986000	0.45419	0.248000	0.25809	9.311000	0.96282	2.221000	0.72209	0.383000	0.25322	GAC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		42	64	0	0	0	1	0	42	64				
POLR2C	5432	broad.mit.edu	37	16	57504027	57504027	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	ENST00000219252.5	+	7	932	c.594C>T	c.(592-594)ccC>ccT	p.P198P	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	198					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(592-594)ccC>ccT		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							63.0	57.0	59.0					16																	57504027		2198	4300	6498	SO:0001819	synonymous_variant	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|protein dimerization activity	g.chr16:57504027C>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.594C>T	16.37:g.57504027C>T						POLR2C_ENST00000564651.1_3'UTR	p.P198P	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			7	932	+			198					O15161	Silent	SNP	ENST00000219252.5	37	c.594C>T	CCDS10782.1																																																																																				0.537	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		13	17	0	0	0	1	0	13	17				
PEG3	5178	broad.mit.edu	37	19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	ENST00000326441.9	-	10	2899	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	846					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S846G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.S846G(2)	biliary_tract(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2536-2538)Agt>Ggt		paternally expressed 3							96.0	93.0	94.0					19																	57327274		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327274T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2536A>G	19.37:g.57327274T>C	ENSP00000326581:p.Ser846Gly					PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000599935.1_Intron	p.S846G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2899	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	846					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2536A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	9.601	1.128650	0.21041	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.0	-2.33	0.06724	.	1.234140	0.05651	N	0.585172	T	0.02156	0.0067	N	0.19112	0.55	.	.	.	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.48151	-0.9060	9	0.62326	D	0.03	-2.5756	3.6272	0.08117	0.1146:0.0961:0.4795:0.3099	.	722;846;781	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	846	ENSP00000326581:S846G;ENSP00000403051:S846G	ENSP00000326581:S846G	S	-	1	0	ZIM2	62019086	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	0.178000	0.16820	-0.440000	0.07211	0.482000	0.46254	AGT		0.433	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			23	50	0	0	0	1	0	23	50				
TSGA10IP	254187	broad.mit.edu	37	11	65714852	65714852	+	RNA	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	ENST00000532620.1	+	0	787				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637																																						ENST00000532620.1																			0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein							18.0	22.0	21.0					11																	65714852		1930	4147	6077			254187							g.chr11:65714852G>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714852G>A										Q3SY00	T10IP_HUMAN			0	787	+								Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	ENST00000532620.1	37																																																																																						0.637	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		6	18	0	0	0	1	0	6	18				
CFTR	1080	broad.mit.edu	37	7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	ENST00000003084.6	+	22	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1172					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CATGCCAACAGAAGGTAAACC	0.368									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(3514-3516)Gaa>Aaa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						94.0	82.0	86.0					7																	117267621		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117267621G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3514G>A	7.37:g.117267621G>A	ENSP00000003084:p.Glu1172Lys					AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K	p.E1172K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		22	3646	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1172					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3514G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398909	0.62177	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.97731	-4.51;-4.51;-4.51	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.83603	2.65	0.58432	D	0.999992	B	0.24258	0.1	B	0.33121	0.158	D	0.95910	0.8922	10	0.87932	D	0	-27.575	20.3559	0.98840	0.0:0.0:1.0:0.0	.	1172	P13569	CFTR_HUMAN	K	1172;1111;1142	ENSP00000003084:E1172K;ENSP00000403677:E1111K;ENSP00000389119:E1142K	ENSP00000003084:E1172K	E	+	1	0	CFTR	117054857	1.000000	0.71417	0.996000	0.52242	0.601000	0.36947	7.864000	0.87037	2.890000	0.99128	0.585000	0.79938	GAA		0.368	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	48	0	0	0	1	0	9	48				
ADAMTS20	80070	broad.mit.edu	37	12	43840498	43840498	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:43840498G>A	ENST00000389420.3	-	15	2096	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	ADAMTS20_ENST00000553158.1_Silent_p.H699H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	699	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTTAACACGTGATCACAAC	0.373																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2095-2097)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							173.0	147.0	155.0					12																	43840498		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43840498G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2097C>T	12.37:g.43840498G>A						ADAMTS20_ENST00000553158.1_Silent_p.H699H	p.H699H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	15	2096	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	699			Cys-rich.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.2097C>T	CCDS31778.2																																																																																				0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	15	0	0	0	1	0	8	15				
GPR179	440435	broad.mit.edu	37	17	36487200	36487200	+	Missense_Mutation	SNP	C	C	T	rs373293115		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:36487200C>T	ENST00000342292.4	-	11	2272	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	751					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCGGCGGCGGGAGGAGCC	0.697																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2251-2253)cGc>cAc		G protein-coupled receptor 179		C	HIS/ARG	2,3876		0,2,1937	8.0	11.0	10.0		2252	4.5	1.0	17		10	0,8232		0,0,4116	no	missense	GPR179	NM_001004334.2	29	0,2,6053	TT,TC,CC		0.0,0.0516,0.0165	benign	751/2368	36487200	2,12108	1939	4116	6055	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487200C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2252G>A	17.37:g.36487200C>T	ENSP00000345060:p.Arg751His						p.R751H	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2272	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	751						Missense_Mutation	SNP	ENST00000342292.4	37	c.2252G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826663	0.71143	5.16E-4	0.0	ENSG00000188888	ENST00000342292	T	0.56103	0.48	5.44	4.48	0.54585	.	0.305199	0.28515	N	0.015073	T	0.43831	0.1265	L	0.54323	1.7	0.09310	N	0.999998	B	0.31640	0.333	B	0.20767	0.031	T	0.46484	-0.9188	10	0.62326	D	0.03	-8.5606	9.8673	0.41152	0.0:0.838:0.0:0.162	.	751	Q6PRD1	GP179_HUMAN	H	751	ENSP00000345060:R751H	ENSP00000345060:R751H	R	-	2	0	GPR179	33740726	0.478000	0.25917	0.999000	0.59377	0.847000	0.48162	1.217000	0.32455	1.532000	0.49169	0.655000	0.94253	CGC		0.697	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	15	0	0	0	1	0	5	15				
DPPA5	340168	broad.mit.edu	37	6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	ENST00000370370.3	-	2	185	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(115-117)cCg>cTg		developmental pluripotency associated 5							48.0	49.0	49.0					6																	74063752		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063752G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.116C>T	6.37:g.74063752G>A	ENSP00000359396:p.Pro39Leu						p.P39L	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			2	185	-			39			KH; atypical.		B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.116C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315678	0.23908	.	.	ENSG00000203909	ENST00000370370	T	0.14144	2.53	3.74	-1.53	0.08611	K Homology (1);	0.778682	0.11334	N	0.574756	T	0.03915	0.0110	M	0.65975	2.015	0.22366	N	0.999169	P	0.45011	0.848	B	0.34385	0.181	T	0.26883	-1.0090	10	0.62326	D	0.03	.	4.1494	0.10230	0.0942:0.4489:0.3039:0.153	.	39	A6NC42	DPPA5_HUMAN	L	39	ENSP00000359396:P39L	ENSP00000359396:P39L	P	-	2	0	DPPA5	74120473	0.045000	0.20229	0.016000	0.15963	0.014000	0.08584	-0.240000	0.08952	-0.330000	0.08514	-1.740000	0.00687	CCG		0.612	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		26	58	0	0	0	1	0	26	58				
INF2	64423	broad.mit.edu	37	14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T	rs201593594	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	ENST00000392634.4	+	8	1844	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_ENST00000330634.7_Missense_Mutation_p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	578	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		12362	0.0		0.0	False		,,,				2504	0.0					ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1732-1734)Cgt>Tgt		inverted formin, FH2 and WH2 domain containing		C	CYS/ARG,CYS/ARG	14,4164		0,14,2075	34.0	37.0	36.0		1732,1732	1.7	0.0	14		36	0,8394		0,0,4197	yes	missense,missense	INF2	NM_001031714.3,NM_022489.3	180,180	0,14,6272	TT,TC,CC		0.0,0.3351,0.1114	probably-damaging,probably-damaging	578/1241,578/1250	105174336	14,12558	2089	4197	6286	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174336C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1732C>T	14.37:g.105174336C>T	ENSP00000376410:p.Arg578Cys					INF2_ENST00000330634.7_Missense_Mutation_p.R578C	p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1844	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	578			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1732C>T	CCDS9989.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.33	1.605493	0.28623	0.003351	0.0	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.19394	2.15;2.15	3.87	1.66	0.24008	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.328231	0.24901	U	0.034689	T	0.35248	0.0925	M	0.78049	2.395	0.09310	N	0.999997	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	T	0.08700	-1.0709	10	0.56958	D	0.05	.	6.323	0.21229	0.3303:0.5539:0.0:0.1158	.	578;578	Q27J81-2;Q27J81	.;INF2_HUMAN	C	578	ENSP00000376406:R578C;ENSP00000376410:R578C	ENSP00000252527:R46C	R	+	1	0	INF2	104245381	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.376000	0.20535	0.604000	0.29930	-0.339000	0.08088	CGT		0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		10	25	0	0	0	1	0	10	25				
KRTAP5-3	387266	broad.mit.edu	37	11	1629398	1629398	+	Missense_Mutation	SNP	C	C	G	rs7125831		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:1629398C>G	ENST00000399685.1	-	1	295	c.218G>C	c.(217-219)tGc>tCc	p.C73S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	73	11 X 4 AA repeats of C-C-X-P.		C -> S (in dbSNP:rs7125831).			keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCCTTGCAGCCCCCACA	0.677																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(217-219)tGc>tCc		keratin associated protein 5-3							46.0	64.0	58.0					11																	1629398		2188	4290	6478	SO:0001583	missense	387266					keratin filament		g.chr11:1629398C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.218G>C	11.37:g.1629398C>G	ENSP00000382592:p.Cys73Ser						p.C73S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	295	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	73		C -> S (in dbSNP:rs7125831).	11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.218G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	2.350	-0.349067	0.05208	.	.	ENSG00000196224	ENST00000399685	T	0.01005	5.45	3.64	-7.27	0.01461	.	.	.	.	.	T	0.00784	0.0026	N	0.12182	0.205	0.21802	N	0.999534	B	0.09022	0.002	B	0.10450	0.005	T	0.47459	-0.9116	9	0.15499	T	0.54	.	21.2393	0.99949	0.0:0.1676:0.8324:0.0	rs7125831	73	Q6L8H2	KRA53_HUMAN	S	73	ENSP00000382592:C73S	ENSP00000382592:C73S	C	-	2	0	KRTAP5-3	1585974	0.000000	0.05858	0.388000	0.26195	0.010000	0.07245	-1.799000	0.01746	-1.023000	0.03342	-2.505000	0.00190	TGC		0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	176	0	0	0	1	0	7	176				
AFM	173	broad.mit.edu	37	4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	ENST00000226355.3	+	5	616	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	175	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(523-525)Gcc>Acc		afamin							158.0	146.0	150.0					4																	74352724		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74352724G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.523G>A	4.37:g.74352724G>A	ENSP00000226355:p.Ala175Thr						p.A175T	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	616	+	Breast(15;0.00102)		175			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.523G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319183	0.41096	.	.	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	4.81	3.07	0.35406	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472476	0.21315	N	0.076579	T	0.66076	0.2753	M	0.74647	2.275	0.29432	N	0.859763	P	0.36086	0.536	B	0.26693	0.072	T	0.64407	-0.6415	10	0.45353	T	0.12	.	6.573	0.22549	0.2147:0.0:0.7853:0.0	.	175	P43652	AFAM_HUMAN	T	175	ENSP00000226355:A175T	ENSP00000226355:A175T	A	+	1	0	AFM	74571588	0.000000	0.05858	0.625000	0.29200	0.811000	0.45836	0.285000	0.18883	1.021000	0.39600	0.467000	0.42956	GCC		0.398	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			16	58	0	0	0	1	0	16	58				
PCDHGA5	56110	broad.mit.edu	37	5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(715-717)gCg>gTg									82.0	83.0	83.0					5																	140744613		2084	4212	6296	SO:0001583	missense	0							g.chr5:140744613C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.716C>T	5.37:g.140744613C>T	ENSP00000429834:p.Ala239Val					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A239V	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	716	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.716C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	6.873	0.530482	0.13127	.	.	ENSG00000253485	ENST00000518069	T	0.03181	4.02	5.4	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.56124	1.755	0.09310	N	1	P;P	0.43607	0.812;0.51	B;B	0.37943	0.261;0.133	T	0.40251	-0.9573	9	0.49607	T	0.09	.	6.1384	0.20247	0.157:0.6925:0.0:0.1505	.	239;239	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	239	ENSP00000429834:A239V	ENSP00000429834:A239V	A	+	2	0	PCDHGA5	140724797	0.045000	0.20229	0.160000	0.22671	0.023000	0.10783	1.665000	0.37449	1.341000	0.45600	0.467000	0.42956	GCG		0.587	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		24	75	0	0	0	1	0	24	75				
MS4A7	58475	broad.mit.edu	37	11	60152680	60152680	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	ENST00000300184.3	+	3	463	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	89						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483																																						ENST00000300184.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(265-267)ttT>ttC		membrane-spanning 4-domains, subfamily A, member 7							171.0	172.0	172.0					11																	60152680		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60152680T>C	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.267T>C	11.37:g.60152680T>C						MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron	p.F89F	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN			3	463	+			89					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.267T>C	CCDS7985.1																																																																																				0.483	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			45	115	0	0	0	1	0	45	115				
SLC8A2	6543	broad.mit.edu	37	19	47935602	47935602	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	ENST00000236877.6	-	9	2606	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_ENST00000539381.1_Silent_p.F200F|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Silent_p.F493F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	737					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2209-2211)ttC>ttT		solute carrier family 8 (sodium/calcium exchanger), member 2							101.0	88.0	92.0					19																	47935602		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935602G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2211C>T	19.37:g.47935602G>A						SLC8A2_ENST00000539381.1_Silent_p.F200F|SLC8A2_ENST00000542837.1_Silent_p.F493F	p.F737F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2606	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	737					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2211C>T	CCDS33065.1																																																																																				0.652	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			26	76	0	0	0	1	0	26	76				
BPIFB3	359710	broad.mit.edu	37	20	31656779	31656779	+	Splice_Site	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:31656779C>T	ENST00000375494.3	+	10	1149	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	383					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCTGAACTCCGTGAGTGGTC	0.587																																						ENST00000375494.3																			0											c.e10+1		BPI fold containing family B, member 3							58.0	50.0	53.0					20																	31656779		2203	4300	6503	SO:0001630	splice_region_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31656779C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1149+1C>T	20.37:g.31656779C>T							p.S383_splice	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			10	1149	+			383					Q5TDX7	Splice_Site	SNP	ENST00000375494.3	37	c.1149_splice	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	Silent	14	32	0	0	0	1	0	14	32				
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247.0	230.0	236.0					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		6	366	0	0	0	1	0	6	366				
CHMP4C	92421	broad.mit.edu	37	8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A	rs528902989		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	ENST00000297265.4	+	3	617	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	142	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		15769	0.001		0.0	False		,,,				2504	0.0					ENST00000297265.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						c.(424-426)Gcc>Acc		charged multivesicular body protein 4C							143.0	123.0	130.0					8																	82667660		2203	4300	6503	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82667660G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.424G>A	8.37:g.82667660G>A	ENSP00000297265:p.Ala142Thr						p.A142T	NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN			3	617	+			142			Intramolecular interaction with C- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.424G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502675	0.96371	.	.	ENSG00000164695	ENST00000297265	T	0.73789	-0.78	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.80508	2.5	0.80722	D	1	D	0.55605	0.972	P	0.59012	0.85	D	0.86119	0.1567	10	0.52906	T	0.07	-16.4407	19.6761	0.95934	0.0:0.0:1.0:0.0	.	142	Q96CF2	CHM4C_HUMAN	T	142	ENSP00000297265:A142T	ENSP00000297265:A142T	A	+	1	0	CHMP4C	82830215	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.864000	0.99589	2.647000	0.89833	0.591000	0.81541	GCC		0.378	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		18	68	0	0	0	1	0	18	68				
TRIM63	84676	broad.mit.edu	37	1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(334-336)cGg>cAg		tripartite motif containing 63, E3 ubiquitin protein ligase							92.0	71.0	78.0					1																	26387823		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387823C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.335G>A	1.37:g.26387823C>T	ENSP00000363390:p.Arg112Gln					TRIM63_ENST00000483052.1_5'UTR	p.R112Q	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	473	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	112			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.335G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998420	0.74818	.	.	ENSG00000158022	ENST00000374272	T	0.39229	1.09	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.237642	0.41001	D	0.000977	T	0.54806	0.1881	L	0.57536	1.79	0.44123	D	0.996902	D	0.64830	0.994	P	0.56563	0.801	T	0.43637	-0.9379	10	0.19147	T	0.46	.	18.9836	0.92763	0.0:1.0:0.0:0.0	.	112	Q969Q1	TRI63_HUMAN	Q	112	ENSP00000363390:R112Q	ENSP00000363390:R112Q	R	-	2	0	TRIM63	26260410	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.324000	0.59228	2.652000	0.90054	0.591000	0.81541	CGG		0.592	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		7	28	0	0	0	1	0	7	28				
BTBD11	121551	broad.mit.edu	37	12	108008868	108008868	+	Missense_Mutation	SNP	G	G	A	rs151233634		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:108008868G>A	ENST00000280758.5	+	7	2458	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I	BTBD11_ENST00000420571.2_Missense_Mutation_p.V644I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V181I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V644I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	644						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATCCATCCGTCCACCCCGA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0					ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1930-1932)Gtc>Atc		BTB (POZ) domain containing 11		G	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	155.0	140.0	145.0		541,1930	5.8	1.0	12	dbSNP_134	145	0,8600		0,0,4300	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging	181/642,644/1105	108008868	3,13003	2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108008868G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1930G>A	12.37:g.108008868G>A	ENSP00000280758:p.Val644Ile					BTBD11_ENST00000420571.2_Missense_Mutation_p.V644I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V644I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V181I|RP11-128P10.1_ENST00000548473.1_RNA	p.V644I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			7	2458	+			644					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1930G>A	CCDS31893.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.1	4.243185	0.79912	6.81E-4	0.0	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.40756	1.23;1.27;1.26;1.02	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.996	D;D;D;P	0.79784	0.987;0.993;0.993;0.614	T	0.39440	-0.9614	10	0.18710	T	0.47	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	644;181;644;644	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	644;644;644;181	ENSP00000280758:V644I;ENSP00000413889:V644I;ENSP00000447319:V644I;ENSP00000349690:V181I	ENSP00000280758:V644I	V	+	1	0	BTBD11	106532998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.848000	0.99507	2.706000	0.92434	0.655000	0.94253	GTC		0.413	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	27	0	0	0	1	0	11	27				
PTEN	5728	broad.mit.edu	37	10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	ENST00000371953.3	+	8	2321	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	322	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTAACAAAAAATGATCT	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		62	Whole gene deletion(37)|Deletion - Frameshift(12)|Insertion - Frameshift(7)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)	prostate(16)|central_nervous_system(12)|endometrium(8)|skin(7)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|large_intestine(2)|urinary_tract(2)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(964-966)Aaa>Gaa		phosphatase and tensin homolog							85.0	86.0	86.0					10																	89720813		2203	4299	6502	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720813A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.964A>G	10.37:g.89720813A>G	ENSP00000361021:p.Lys322Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.K322E	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2321	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	322			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.964A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091681	0.94149	.	.	ENSG00000171862	ENST00000371953	D	0.88201	-2.35	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95103	0.8232	9	.	.	.	-12.5629	15.3536	0.74409	1.0:0.0:0.0:0.0	.	322	P60484	PTEN_HUMAN	E	322	ENSP00000361021:K322E	.	K	+	1	0	PTEN	89710793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	AAA		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		21	35	0	0	0	1	0	21	35				
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000593490.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542																																						ENST00000600767.1																			1	Substitution - Missense(1)	p.V286I(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(721-723)Gtc>Atc		kallikrein-related peptidase 8		C	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	174.0	161.0	165.0		721,856,298,	3.6	0.9	19	dbSNP_129	165	0,8600		0,0,4300	no	missense,missense,missense,utr-3	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	29,29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	241/261,286/306,100/120,	51499377	1,13005	2203	4300	6503	SO:0001583	missense	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51499377C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.721G>A	19.37:g.51499377C>T	ENSP00000472016:p.Val241Ile					KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000320838.5_3'UTR	p.V241I			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	7	1210	-		all_neural(266;0.026)	241			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	c.721G>A	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602044	0.46423	2.27E-4	0.0	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001253	D	0.92331	0.7567	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.968;0.997	D	0.90875	0.4749	10	0.48119	T	0.1	.	7.4155	0.27042	0.0:0.8058:0.0:0.1942	rs56296296	100;241;286	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	I	286;241;100	ENSP00000375682:V286I;ENSP00000291726:V241I;ENSP00000341555:V100I	ENSP00000291726:V241I	V	-	1	0	KLK8	56191189	0.998000	0.40836	0.855000	0.33649	0.063000	0.16089	3.907000	0.56348	1.308000	0.44962	0.563000	0.77884	GTC		0.542	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		41	133	0	0	0	1	0	41	133				
APOBR	55911	broad.mit.edu	37	16	28508034	28508034	+	Missense_Mutation	SNP	G	G	A	rs374018714		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:28508034G>A	ENST00000431282.1	+	3	1655	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	APOBR_ENST00000564831.1_Missense_Mutation_p.V558I|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.V549I			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	549	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CACACACAGCGTCACCAAAGG	0.642																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1672-1674)Gtc>Atc		apolipoprotein B receptor		A	ILE/VAL	1,4079		0,1,2039	11.0	12.0	12.0		1645	0.1	0.0	16		12	0,8384		0,0,4192	no	missense	APOBR	NM_018690.3	29	0,1,6231	AA,AG,GG		0.0,0.0245,0.0080	possibly-damaging	549/1089	28508034	1,12463	2040	4192	6232	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28508034G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1645G>A	16.37:g.28508034G>A	ENSP00000416094:p.Val549Ile					APOBR_ENST00000431282.1_Missense_Mutation_p.V549I|APOBR_ENST00000328423.5_Missense_Mutation_p.V549I	p.V558I	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	1705	+			549			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1672G>A		.	.	.	.	.	.	.	.	.	.	g	10.76	1.441708	0.25900	2.45E-4	0.0	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.68624	-0.34;-0.34	4.76	0.0565	0.14319	.	.	.	.	.	T	0.43144	0.1234	N	0.16656	0.425	0.09310	N	1	B;P	0.36125	0.366;0.538	B;B	0.32211	0.046;0.142	T	0.22765	-1.0207	9	0.40728	T	0.16	-0.5754	5.8461	0.18667	0.2855:0.1463:0.5682:0.0	.	549;549	Q0VD83;Q9NS13	APOBR_HUMAN;.	I	549	ENSP00000327669:V549I;ENSP00000416094:V549I	ENSP00000327669:V549I	V	+	1	0	APOBR	28415535	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.078000	0.11375	0.085000	0.17107	0.406000	0.27484	GTC		0.642	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		5	7	0	0	0	1	0	5	7				
LILRA6	79168	broad.mit.edu	37	19	54744925	54744925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:54744925C>A	ENST00000396365.2	-	5	776	c.737G>T	c.(736-738)gGc>gTc	p.G246V	LILRA6_ENST00000245621.5_Missense_Mutation_p.G246V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.G246V|LILRA6_ENST00000440558.2_Missense_Mutation_p.G246V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	246	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACATCAGAGCCACACTGGAG	0.652																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(736-738)gGc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							85.0	95.0	92.0					19																	54744925		2203	4300	6503	SO:0001583	missense	79168							g.chr19:54744925C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.737G>T	19.37:g.54744925C>A	ENSP00000379651:p.Gly246Val					LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G246V|LILRA6_ENST00000419410.2_Missense_Mutation_p.G246V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Missense_Mutation_p.G246V	p.G246V						GBM - Glioblastoma multiforme(193;0.105)	5	785	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.737G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	1.532	-0.543985	0.04024	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	2.39	-4.79	0.03200	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.661200	0.01390	N	0.013216	T	0.13329	0.0323	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.30146	0.095;0.27;0.079;0.23	B;B;B;B	0.41299	0.156;0.18;0.034;0.353	T	0.25363	-1.0134	10	0.16896	T	0.51	.	0.0829	0.00033	0.3404:0.2085:0.1692:0.282	.	246;246;246;246	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	V	246	ENSP00000390120:G246V;ENSP00000411227:G246V;ENSP00000379651:G246V;ENSP00000245621:G246V	ENSP00000245621:G246V	G	-	2	0	LILRA6	59436737	0.000000	0.05858	0.014000	0.15608	0.075000	0.17131	-2.209000	0.01228	-1.335000	0.02241	0.184000	0.17185	GGC		0.652	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		4	110	1	0	0.000602214	1	0.000621852	4	110				
WISP2	8839	broad.mit.edu	37	20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	ENST00000372868.2	+	5	1053	c.710G>C	c.(709-711)tGc>tCc	p.C237S	WISP2_ENST00000190983.4_Missense_Mutation_p.C237S|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	237	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677																																						ENST00000372868.2																			0				skin(1)	1						c.(709-711)tGc>tCc		WNT1 inducible signaling pathway protein 2							26.0	28.0	28.0					20																	43355905		2203	4300	6503	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355905G>C	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.710G>C	20.37:g.43355905G>C	ENSP00000361959:p.Cys237Ser					RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C237S|WISP2_ENST00000471629.1_3'UTR	p.C237S			O76076	WISP2_HUMAN			5	1053	+		Myeloproliferative disorder(115;0.0122)	237			TSP type-1.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.710G>C	CCDS13336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.010705|4.010705	0.75046|0.75046	.|.	.|.	ENSG00000064205|ENSG00000064205	ENST00000372865|ENST00000372868;ENST00000190983	T|D;D	0.66638|0.98762	-0.22|-5.12;-5.12	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	.|0.102074	.|0.64402	.|D	.|0.000001	D|D	0.99290|0.99290	0.9752|0.9752	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	D|D	0.64830|0.89917	0.994|1.0	P|D	0.60949|0.91635	0.881|0.999	D|D	0.98763|0.98763	1.0725|1.0725	9|10	0.87932|0.87932	D|D	0|0	-20.0354|-20.0354	16.0053|16.0053	0.80359|0.80359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|237	Q6PEG3|O76076	.|WISP2_HUMAN	P|S	155|237	ENSP00000361956:A155P|ENSP00000361959:C237S;ENSP00000190983:C237S	ENSP00000361956:A155P|ENSP00000190983:C237S	A|C	+|+	1|2	0|0	WISP2|WISP2	42789319|42789319	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.611000|0.611000	0.37282|0.37282	9.306000|9.306000	0.96204|0.96204	2.090000|2.090000	0.63153|0.63153	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.677	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		12	38	0	0	0	1	0	12	38				
MACC1	346389	broad.mit.edu	37	7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	ENST00000400331.5	-	5	2323	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_ENST00000589011.1_Missense_Mutation_p.G672V|MACC1_ENST00000332878.4_Missense_Mutation_p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	672					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2014-2016)gGt>gTt		metastasis associated in colon cancer 1							62.0	64.0	64.0					7																	20197969		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20197969C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2015G>T	7.37:g.20197969C>A	ENSP00000383185:p.Gly672Val					MACC1_ENST00000332878.4_Missense_Mutation_p.G672V|MACC1_ENST00000589011.1_Missense_Mutation_p.G672V	p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	2323	-			672					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.2015G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619191	0.66787	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.35048	1.33;1.33	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.68239	-0.5461	10	0.72032	D	0.01	-16.8875	19.6484	0.95791	0.0:1.0:0.0:0.0	.	672	Q6ZN28	MACC1_HUMAN	V	672	ENSP00000383185:G672V;ENSP00000328410:G672V	ENSP00000328410:G672V	G	-	2	0	MACC1	20164494	0.998000	0.40836	1.000000	0.80357	0.828000	0.46876	4.964000	0.63701	2.642000	0.89623	0.563000	0.77884	GGT		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		20	40	1	0	7.45023e-12	1	8.1353e-12	20	40				
MUC17	140453	broad.mit.edu	37	7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	ENST00000306151.4	+	3	9342	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9277-9279)aCc>aTc		mucin 17, cell surface associated							261.0	263.0	263.0					7																	100683975		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683975C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9278C>T	7.37:g.100683975C>T	ENSP00000302716:p.Thr3093Ile						p.T3093I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9342	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3093			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9278C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	16.03	3.008189	0.54361	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	1.15	1.15	0.20763	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.22762	N	0.998769	D	0.58970	0.984	D	0.70487	0.969	T	0.49380	-0.8946	9	0.46703	T	0.11	.	8.3124	0.32080	0.0:1.0:0.0:0.0	.	3093	Q685J3	MUC17_HUMAN	I	3093	ENSP00000302716:T3093I	ENSP00000302716:T3093I	T	+	2	0	MUC17	100470695	0.050000	0.20438	0.111000	0.21465	0.023000	0.10783	2.548000	0.45794	0.960000	0.38005	0.121000	0.15741	ACC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		119	449	0	0	0	1	0	119	449				
KCNB1	3745	broad.mit.edu	37	20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	ENST00000371741.4	-	2	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	848					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CCATGGGCTCCTCCCCCTGGC	0.537																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2542-2544)Gga>Aga		potassium voltage-gated channel, Shab-related subfamily, member 1							81.0	66.0	71.0					20																	47989555		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989555C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2542G>A	20.37:g.47989555C>T	ENSP00000360806:p.Gly848Arg						p.G848R	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2708	-			848					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.2542G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053644	0.19907	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96365	-3.99	5.03	5.03	0.67393	.	0.503060	0.17303	N	0.179197	D	0.94611	0.8263	L	0.50333	1.59	0.52501	D	0.999956	B	0.24092	0.097	B	0.19391	0.025	D	0.92024	0.5628	10	0.44086	T	0.13	.	18.1631	0.89716	0.0:1.0:0.0:0.0	.	848	Q14721	KCNB1_HUMAN	R	848;803	ENSP00000360806:G848R	ENSP00000360806:G848R	G	-	1	0	KCNB1	47422962	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	4.286000	0.58995	2.598000	0.87819	0.655000	0.94253	GGA		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		11	33	0	0	0	1	0	11	33				
TCEAL3	85012	broad.mit.edu	37	X	102864217	102864217	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	ENST00000372628.1	+	3	583	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000243286.3_Silent_p.E75E|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	75	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622																																						ENST00000372628.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(223-225)gaG>gaA		transcription elongation factor A (SII)-like 3							118.0	98.0	105.0					X																	102864217		2203	4300	6503	SO:0001819	synonymous_variant	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864217G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.225G>A	X.37:g.102864217G>A						TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Silent_p.E75E	p.E75E			Q969E4	TCAL3_HUMAN			3	583	+			75			Glu-rich.		D3DXA4	Silent	SNP	ENST00000372628.1	37	c.225G>A	CCDS14511.1																																																																																				0.622	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		44	159	0	0	0	1	0	44	159				
ABCB4	5244	broad.mit.edu	37	7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	ENST00000265723.4	-	2	181	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	24					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGCTGATGCCCAGTTCAAAG	0.547																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(70-72)Ggc>Cgc		ATP-binding cassette, sub-family B (MDR/TAP), member 4							76.0	70.0	72.0					7																	87104712		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104712C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.70G>C	7.37:g.87104712C>G	ENSP00000265723:p.Gly24Arg					ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R	p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			2	181	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		24					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.70G>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	3.892	-0.023776	0.07634	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.86769	-2.1;-2.17;-2.14;-2.17;-2.1	3.85	2.97	0.34412	ABC transporter, transmembrane domain, type 1 (1);	0.843329	0.09944	N	0.735553	T	0.75664	0.3880	N	0.19112	0.55	0.26984	N	0.965299	B;B;B;B	0.24823	0.014;0.086;0.078;0.112	B;B;B;B	0.24541	0.005;0.015;0.054;0.024	T	0.60772	-0.7197	10	0.16420	T	0.52	-3.1228	7.126	0.25471	0.0:0.876:0.0:0.124	.	24;24;24;24	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	R	24	ENSP00000352135:G24R;ENSP00000351172:G24R;ENSP00000265723:G24R;ENSP00000392983:G24R;ENSP00000437465:G24R	ENSP00000265723:G24R	G	-	1	0	ABCB4	86942648	0.012000	0.17670	0.651000	0.29564	0.143000	0.21401	0.234000	0.17930	0.834000	0.34852	0.637000	0.83480	GGC		0.547	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		13	57	0	0	0	1	0	13	57				
SLC27A4	10999	broad.mit.edu	37	9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	ENST00000300456.4	+	12	1852	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	579					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1735-1737)Ccc>Tcc		solute carrier family 27 (fatty acid transporter), member 4							93.0	82.0	86.0					9																	131118036		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131118036C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1735C>T	9.37:g.131118036C>T	ENSP00000300456:p.Pro579Ser					SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	p.P579S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			12	1852	+			579					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1735C>T	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327486	0.81690	.	.	ENSG00000167114	ENST00000372870;ENST00000300456	T;T	0.73152	-0.72;-0.72	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94489	0.7700	10	0.87932	D	0	-34.2893	17.3653	0.87362	0.0:1.0:0.0:0.0	.	173;579	Q96G53;Q6P1M0	.;S27A4_HUMAN	S	173;579	ENSP00000361961:P173S;ENSP00000300456:P579S	ENSP00000300456:P579S	P	+	1	0	SLC27A4	130157857	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.549000	0.60726	2.563000	0.86464	0.563000	0.77884	CCC		0.637	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			14	70	0	0	0	1	0	14	70				
ANKRD36	375248	broad.mit.edu	37	2	97867956	97867956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:97867956C>T	ENST00000461153.2	+	47	3119	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.P959S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	959										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGAAACCACCAGCCTTGAA	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2875-2877)Cca>Tca		ankyrin repeat domain 36							117.0	119.0	119.0					2																	97867956		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867956C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2875C>T	2.37:g.97867956C>T	ENSP00000419530:p.Pro959Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.P959S	p.P959S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			47	3119	+			959					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2875C>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	8.325	0.825091	0.16678	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77877	-1.13;-1.13	0.673	0.673	0.17941	.	.	.	.	.	T	0.64638	0.2616	L	0.42245	1.32	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.53837	-0.8382	8	0.25106	T	0.35	.	.	.	.	.	959	A6QL64	AN36A_HUMAN	S	959;959;321	ENSP00000419530:P959S;ENSP00000391950:P959S	ENSP00000391950:P959S	P	+	1	0	ANKRD36	97231683	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.377000	0.07456	0.640000	0.30582	0.175000	0.17021	CCA		0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	27	0	0	0	1	0	4	27				
ATP8A2	51761	broad.mit.edu	37	13	26273415	26273415	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	ENST00000381655.2	+	25	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_ENST00000255283.8_Silent_p.A732A|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	732					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2314-2316)gcG>gcA		ATPase, aminophospholipid transporter, class I, type 8A, member 2							86.0	82.0	84.0					13																	26273415		1983	4161	6144	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273415G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2316G>A	13.37:g.26273415G>A						ATP8A2_ENST00000255283.8_Silent_p.A732A|ATP8A2_ENST00000491840.1_3'UTR	p.A772A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2458	+		Breast(139;0.0201)|Lung SC(185;0.0225)	732					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.2316G>A	CCDS41873.1																																																																																				0.552	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		8	48	0	0	0	1	0	8	48				
JAKMIP1	152789	broad.mit.edu	37	4	6043922	6043922	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	ENST00000409021.3	-	17	2510	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_ENST00000409371.3_Silent_p.A502A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	29					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2059-2061)gcC>gcT		janus kinase and microtubule interacting protein 1							85.0	89.0	88.0					4																	6043922		1942	4133	6075	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6043922G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2061C>T	4.37:g.6043922G>A						JAKMIP1_ENST00000409371.3_Silent_p.A502A	p.A687A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			17	2510	-			458					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2061C>T	CCDS47005.1																																																																																				0.547	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		10	45	0	0	0	1	0	10	45				
IL9R	3581	broad.mit.edu	37	X	155239557	155239557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:155239557C>T	ENST00000244174.5	+	9	1228	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.P329L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	350					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTTGGAGCCCTGCGTCCAG	0.672																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(985-987)cCc>cTc		interleukin 9 receptor							17.0	28.0	24.0					X																	155239557		2128	4250	6378	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239557C>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1049C>T	X.37:g.155239557C>T	ENSP00000244174:p.Pro350Leu					IL9R_ENST00000244174.5_Missense_Mutation_p.P350L|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR	p.P329L			Q01113	IL9R_HUMAN			10	1353	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		350					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.986C>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	6.045	0.376721	0.11466	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10099	2.91;2.91	1.44	0.486	0.16836	.	0.856428	0.10007	N	0.727685	T	0.05777	0.0151	.	.	.	0.09310	N	1	B	0.28801	0.223	B	0.22386	0.039	T	0.42599	-0.9442	9	0.26408	T	0.33	-5.7053	5.0622	0.14562	0.0:0.6229:0.3771:0.0	.	350	Q01113	IL9R_HUMAN	L	350;329	ENSP00000244174:P350L;ENSP00000388918:P329L	ENSP00000244174:P350L	P	+	2	0	IL9R	154892751	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.947000	0.29082	0.094000	0.17404	0.287000	0.19450	CCC		0.672	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		9	14	0	0	0	1	0	9	14				
WBSCR28	135886	broad.mit.edu	37	7	73280003	73280003	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	ENST00000320531.2	+	3	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	200						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(598-600)Ctg>Ttg		Williams-Beuren syndrome chromosome region 28							158.0	165.0	162.0					7																	73280003		2199	4285	6484	SO:0001819	synonymous_variant	135886					integral to membrane		g.chr7:73280003C>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.598C>T	7.37:g.73280003C>T							p.L200L	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			3	634	+		Lung NSC(55;0.159)	200					Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	c.598C>T	CCDS43597.1																																																																																				0.612	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		58	244	0	0	0	1	0	58	244				
HEPACAM2	253012	broad.mit.edu	37	7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	ENST00000394468.2	-	4	799	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	241	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(721-723)cCt>cAt		HEPACAM family member 2							83.0	84.0	84.0					7																	92838183		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838183G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.722C>A	7.37:g.92838183G>T	ENSP00000377980:p.Pro241His					HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H	p.P241H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	799	-			241			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.722C>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200186	0.79015	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.67171	-0.25;-0.22;-0.14;-0.14	4.57	4.57	0.56435	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.85224	0.1028	10	0.87932	D	0	-20.8572	18.6746	0.91524	0.0:0.0:1.0:0.0	.	264;229;241;229	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	H	241;229;229;264	ENSP00000377980:P241H;ENSP00000340532:P229H;ENSP00000389592:P229H;ENSP00000390204:P264H	ENSP00000340532:P229H	P	-	2	0	HEPACAM2	92676119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.352000	0.90075	2.826000	0.97356	0.655000	0.94253	CCT		0.358	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		16	66	1	0	2.32078e-09	1	2.47724e-09	16	66				
NFATC1	4772	broad.mit.edu	37	18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	ENST00000427363.2	+	2	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_ENST00000253506.5_Missense_Mutation_p.V141E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E|NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	141	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATGTGGAGGTGGAAGACGTC	0.627																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(421-423)gTg>gAg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							47.0	44.0	45.0					18																	77170697		2202	4298	6500	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170697T>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.422T>A	18.37:g.77170697T>A	ENSP00000389377:p.Val141Glu					NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E|NFATC1_ENST00000427363.2_Missense_Mutation_p.V141E|NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E	p.V141E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	791	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	141			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.422T>A		.	.	.	.	.	.	.	.	.	.	T	7.366	0.625860	0.14257	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.70749	1.03;-0.51;1.03	4.55	2.13	0.27403	.	0.114080	0.38326	N	0.001728	T	0.55970	0.1954	L	0.31926	0.97	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.016;0.016;0.016;0.016;0.016;0.016;0.016	B;B;B;B;B;B;B	0.16289	0.015;0.015;0.01;0.015;0.015;0.015;0.015	T	0.47548	-0.9109	10	0.46703	T	0.11	-30.5589	8.6364	0.33950	0.0:0.1579:0.0:0.8421	.	128;128;141;141;141;128;141	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	E	141;141;141;128;128;105	ENSP00000253506:V141E;ENSP00000442435:V141E;ENSP00000327850:V128E	ENSP00000253506:V141E	V	+	2	0	NFATC1	75271685	1.000000	0.71417	0.996000	0.52242	0.131000	0.20780	5.468000	0.66743	0.273000	0.22049	0.459000	0.35465	GTG		0.627	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		9	22	0	0	0	1	0	9	22				
HSPG2	3339	broad.mit.edu	37	1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	ENST00000374695.3	-	26	3476	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1133	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.			R -> L (in Ref. 6; AAB21121). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(3397-3399)Cgt>Tgt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						32.0	31.0	32.0					1																	22201401		2200	4299	6499	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22201401G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3397C>T	1.37:g.22201401G>A	ENSP00000363827:p.Arg1133Cys						p.R1133C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	26	3476	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1133	R -> L (in Ref. 6; AAB21121).		Laminin EGF-like 5; second part.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.3397C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713932	0.48622	.	.	ENSG00000142798	ENST00000374695	T	0.61980	0.06	5.27	4.35	0.52113	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.193190	0.25660	N	0.029145	T	0.80105	0.4562	M	0.85197	2.74	0.45005	D	0.998023	D	0.89917	1.0	D	0.85130	0.997	T	0.81790	-0.0771	10	0.48119	T	0.1	.	13.6339	0.62210	0.0:0.1567:0.8433:0.0	.	1133	P98160	PGBM_HUMAN	C	1133	ENSP00000363827:R1133C	ENSP00000363827:R1133C	R	-	1	0	HSPG2	22073988	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.352000	0.52239	1.195000	0.43115	0.511000	0.50034	CGT		0.697	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	8	0	0	0	1	0	4	8				
CLEC14A	161198	broad.mit.edu	37	14	38724436	38724436	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	ENST00000342213.2	-	1	1138	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(790-792)gaC>gaT		C-type lectin domain family 14, member A							84.0	92.0	89.0					14																	38724436		2203	4299	6502	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724436G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.792C>T	14.37:g.38724436G>A							p.D264D	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1138	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		264			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.792C>T	CCDS9667.1																																																																																				0.637	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		61	108	0	0	0	1	0	61	108				
CCDC114	93233	broad.mit.edu	37	19	48800756	48800756	+	Missense_Mutation	SNP	G	G	A	rs370475371		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:48800756G>A	ENST00000315396.7	-	14	2172	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	497					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGCGCCTCCGCCTGCTCCTG	0.721																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1489-1491)gCg>gTg		coiled-coil domain containing 114		G	VAL/ALA	0,4394		0,0,2197	19.0	19.0	19.0		1490	0.3	0.0	19		19	1,8527		0,1,4263	no	missense	CCDC114	NM_144577.3	64	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	benign	497/671	48800756	1,12921	2197	4264	6461	SO:0001583	missense	93233							g.chr19:48800756G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1490C>T	19.37:g.48800756G>A	ENSP00000318429:p.Ala497Val						p.A497V	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2172	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	497					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1490C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403844	0.25291	0.0	1.17E-4	ENSG00000105479	ENST00000315396	T	0.22945	1.93	2.76	0.296	0.15757	.	.	.	.	.	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	D	0.61080	0.989	P	0.45998	0.5	T	0.13656	-1.0501	9	0.35671	T	0.21	.	4.7431	0.13024	0.0:0.2461:0.502:0.2519	.	497	Q96M63	CC114_HUMAN	V	497	ENSP00000318429:A497V	ENSP00000318429:A497V	A	-	2	0	CCDC114	53492568	0.484000	0.25964	0.004000	0.12327	0.097000	0.18754	2.190000	0.42630	0.149000	0.19098	0.655000	0.94253	GCG		0.721	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	23	0	0	0	1	0	5	23				
UFSP1	402682	broad.mit.edu	37	7	100486857	100486857	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751																																						ENST00000388761.2																			0				lung(1)|stomach(1)	2						c.(34-36)cgG>cgA		UFM1-specific peptidase 1 (non-functional)							9.0	11.0	10.0					7																	100486857		1943	3868	5811	SO:0001819	synonymous_variant	402682							g.chr7:100486857C>T	AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.36G>A	7.37:g.100486857C>T							p.R12R	NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN			1	482	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		12					A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Silent	SNP	ENST00000388761.2	37	c.36G>A	CCDS34710.1																																																																																				0.751	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		10	40	0	0	0	1	0	10	40				
OR51L1	119682	broad.mit.edu	37	11	5020872	5020872	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	ENST00000321543.1	+	1	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(658-660)taT>taC		olfactory receptor, family 51, subfamily L, member 1							210.0	187.0	195.0					11																	5020872		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020872T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.660T>C	11.37:g.5020872T>C							p.Y220Y	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	660	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	220					Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.660T>C	CCDS31369.1																																																																																				0.403	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		16	44	0	0	0	1	0	16	44				
DDI1	414301	broad.mit.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(322-324)cGt>cAt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)		G	HIS/ARG,,	1,4403	2.1+/-5.4	0,1,2201	89.0	89.0	89.0		323,,	3.2	0.2	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	29,,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,,	108/397,,	103907873	2,13000	2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907873G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.323G>A	11.37:g.103907873G>A	ENSP00000302805:p.Arg108His					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R108H	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	566	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	108					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.323G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521366	0.44866	2.27E-4	1.16E-4	ENSG00000170967	ENST00000302259	T	0.24908	1.83	5.02	3.16	0.36331	.	0.791492	0.11533	N	0.554491	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	D	0.60160	0.987	B	0.39660	0.306	T	0.14420	-1.0473	10	0.52906	T	0.07	-9.7142	9.7218	0.40308	0.1699:0.0:0.8301:0.0	.	108	Q8WTU0	DDI1_HUMAN	H	108	ENSP00000302805:R108H	ENSP00000302805:R108H	R	+	2	0	DDI1	103413083	0.319000	0.24607	0.156000	0.22583	0.007000	0.05969	1.378000	0.34328	0.836000	0.34901	-0.150000	0.13652	CGT		0.672	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		39	109	0	0	0	1	0	39	109				
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C	rs541227756	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:133353241T>C	ENST00000450791.2	-	20	4140	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000204726.3_Silent_p.E1319E			Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587													T|||	45	0.00898562	0.0212	0.0159	5008	,	,		20367	0.0		0.005	False		,,,				2504	0.001					ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3955-3957)gaA>gaG		golgin A3							90.0	83.0	85.0					12																	133353241		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353241T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3957A>G	12.37:g.133353241T>C						GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4515	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1319			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3957A>G	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	102	0	0	0	1	0	4	102				
MYOCD	93649	broad.mit.edu	37	17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	ENST00000343344.4	+	10	1319	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S344T|MYOCD_ENST00000425538.1_Missense_Mutation_p.S440T			Q8IZQ8	MYCD_HUMAN	myocardin	440	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1318-1320)aGt>aCt		myocardin							137.0	120.0	126.0					17																	12655924		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655924G>C	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1319G>C	17.37:g.12655924G>C	ENSP00000341835:p.Ser440Thr					MYOCD_ENST00000343344.4_Missense_Mutation_p.S440T|MYOCD_ENST00000395988.1_Missense_Mutation_p.S344T	p.S440T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1519	+			440			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1319G>C	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	1.992	-0.431488	0.04669	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.42513	0.97;0.97	5.29	5.29	0.74685	.	0.129568	0.64402	D	0.000001	T	0.36386	0.0965	N	0.17345	0.48	0.33172	D	0.548342	P;P;P;P	0.52577	0.761;0.921;0.954;0.761	B;P;P;B	0.49421	0.282;0.61;0.555;0.352	T	0.33085	-0.9882	10	0.17369	T	0.5	-6.3767	17.6937	0.88276	0.0:0.0:1.0:0.0	.	159;344;440;440	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	159;440;440;344;145	ENSP00000341835:S440T;ENSP00000400148:S145T	ENSP00000341835:S440T	S	+	2	0	MYOCD	12596649	1.000000	0.71417	0.527000	0.27925	0.026000	0.11368	7.221000	0.78016	2.475000	0.83589	0.591000	0.81541	AGT		0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		34	95	0	0	0	1	0	34	95				
FAT2	2196	broad.mit.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	rs377736336		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8776-8778)gCg>gTg		FAT atypical cadherin 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	152.0	147.0	149.0		8777	-2.4	0.0	5		149	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2926/4350	150921911	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150921911G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8777C>T	5.37:g.150921911G>A	ENSP00000261800:p.Ala2926Val						p.A2926V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8789	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2926			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8777C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.472	0.455265	0.12283	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.01821	4.62	6.05	-2.38	0.06622	Cadherin (3);Cadherin-like (1);	0.514050	0.19142	N	0.121670	T	0.01189	0.0039	N	0.13327	0.33	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.46331	-0.9199	10	0.10636	T	0.68	.	14.7649	0.69632	0.442:0.0:0.558:0.0	.	2926	Q9NYQ8	FAT2_HUMAN	V	2926	ENSP00000261800:A2926V	ENSP00000261800:A2926V	A	-	2	0	FAT2	150902104	0.085000	0.21516	0.004000	0.12327	0.037000	0.13140	0.445000	0.21677	-0.525000	0.06391	-2.259000	0.00280	GCG		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		38	119	0	0	0	1	0	38	119				
PGR	5241	broad.mit.edu	37	11	100998773	100998773	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	ENST00000325455.5	-	1	2482	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.R343R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	343	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGGTGAACTCCGCGGCGGGG	0.687																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1027-1029)cgG>cgT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						14.0	19.0	17.0					11																	100998773		2073	4130	6203	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998773C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1029G>T	11.37:g.100998773C>A						PGR_ENST00000263463.5_Silent_p.R343R|PGR_ENST00000534013.1_Intron	p.R343R	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2482	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	343			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.1029G>T	CCDS8310.1																																																																																				0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			16	41	1	0	6.94344e-10	1	7.49576e-10	16	41				
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:11012916C>A	ENST00000415664.2	-	8	1004		c.e8+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e8+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11012916C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2332+1G>T	21.37:g.11012916C>A										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	8	1004	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.299	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	13	20	1	0	0.000151284	1	0.000157934	13	20				
HUWE1	10075	broad.mit.edu	37	X	53654434	53654434	+	Silent	SNP	C	C	T	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	ENST00000342160.3	-	16	1873	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P	HUWE1_ENST00000218328.8_Silent_p.P472P|HUWE1_ENST00000262854.6_Silent_p.P472P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1414-1416)ccG>ccA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase				3,3832		0,3,1629,571	191.0	161.0	171.0		1416	-2.3	1.0	X	dbSNP_134	171	0,6728		0,0,2428,1872	no	coding-synonymous	HUWE1	NM_031407.4		0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284		472/4375	53654434	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654434C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1416G>A	X.37:g.53654434C>T						HUWE1_ENST00000262854.6_Silent_p.P472P|HUWE1_ENST00000218328.8_Silent_p.P472P	p.P472P			Q7Z6Z7	HUWE1_HUMAN			16	1873	-			472					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.1416G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	t	10.43	1.347646	0.24426	7.82E-4	0.0	ENSG00000086758	ENST00000424562	.	.	.	4.79	-2.29	0.06805	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	2.1496	0.03796	0.5254:0.0908:0.207:0.1768	.	.	.	.	I	70	.	.	V	-	1	0	HUWE1	53671159	0.995000	0.38212	0.990000	0.47175	0.982000	0.71751	0.292000	0.19011	-0.692000	0.05128	-0.448000	0.05591	GTT		0.318	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		21	80	0	0	0	1	0	21	80				
FBN3	84467	broad.mit.edu	37	19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	ENST00000600128.1	-	19	2800	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	FBN3_ENST00000270509.2_Missense_Mutation_p.R796W|FBN3_ENST00000601739.1_Missense_Mutation_p.R796W			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTCCAGCCGGCTGCCAGGG	0.657																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2386-2388)Cgg>Tgg		fibrillin 3							32.0	35.0	34.0					19																	8191627		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191627G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2386C>T	19.37:g.8191627G>A	ENSP00000470498:p.Arg796Trp					FBN3_ENST00000270509.2_Missense_Mutation_p.R796W|FBN3_ENST00000601739.1_Missense_Mutation_p.R796W	p.R796W			Q75N90	FBN3_HUMAN			19	2800	-			796			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2386C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	15.31	2.794207	0.50102	.	.	ENSG00000142449	ENST00000270509	D	0.87571	-2.27	3.45	1.03	0.20045	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.140722	0.44285	U	0.000470	D	0.88880	0.6557	M	0.63208	1.945	0.23487	N	0.997577	D	0.76494	0.999	D	0.66084	0.941	T	0.78889	-0.2026	10	0.66056	D	0.02	.	4.8325	0.13447	0.1223:0.0:0.4173:0.4603	.	796	Q75N90	FBN3_HUMAN	W	796	ENSP00000270509:R796W	ENSP00000270509:R796W	R	-	1	2	FBN3	8097627	1.000000	0.71417	0.570000	0.28473	0.344000	0.29017	3.836000	0.55813	0.445000	0.26639	0.491000	0.48974	CGG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		15	36	0	0	0	1	0	15	36				
SLC5A1	6523	broad.mit.edu	37	22	32487648	32487648	+	Silent	SNP	C	C	T	rs201456202		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	ENST00000266088.4	+	11	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_ENST00000543737.1_Silent_p.S266S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	393					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCATGAGCTCCCTGACCTCCA	0.527																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1177-1179)tcC>tcT		solute carrier family 5 (sodium/glucose cotransporter), member 1							132.0	113.0	119.0					22																	32487648		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487648C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1179C>T	22.37:g.32487648C>T						SLC5A1_ENST00000543737.1_Silent_p.S266S	p.S393S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			11	1429	+			393					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1179C>T	CCDS13902.1																																																																																				0.527	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		24	76	0	0	0	1	0	24	76				
SLC7A3	84889	broad.mit.edu	37	X	70148064	70148064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	ENST00000374299.3	-	5	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	251					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(751-753)Gag>Aag		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						66.0	55.0	59.0					X																	70148064		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148064C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.751G>A	X.37:g.70148064C>T	ENSP00000363417:p.Glu251Lys					SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K	p.E251K			Q8WY07	CTR3_HUMAN			5	895	-	Renal(35;0.156)		251					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.751G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488676	0.12641	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89552	-2.53;-2.53	4.92	-0.314	0.12750	Amino acid permease domain (1);	0.973647	0.08516	N	0.934228	T	0.79545	0.4464	N	0.15975	0.35	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.59166	-0.7505	10	0.23891	T	0.37	.	13.0568	0.58984	0.0:0.3393:0.5888:0.0719	.	251	Q8WY07	CTR3_HUMAN	K	251	ENSP00000363417:E251K;ENSP00000298085:E251K	ENSP00000298085:E251K	E	-	1	0	SLC7A3	70064789	0.000000	0.05858	0.012000	0.15200	0.539000	0.34962	-0.250000	0.08830	-0.419000	0.07439	-0.347000	0.07816	GAG		0.498	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		4	26	0	0	0	1	0	4	26				
ATG7	10533	broad.mit.edu	37	3	11600065	11600065	+	IGR	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000273038.3_Missense_Mutation_p.V280I|VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTGTGGCTGACCATGTGGGCA	0.622																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(838-840)Gtc>Atc		vestigial like 4 (Drosophila)							45.0	51.0	49.0					3																	11600065		2203	4299	6502	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600065C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600065C>T						VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I|VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I	p.V280I	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1203	-			280					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.838G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	14.71	2.617209	0.46736	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.48836	0.81;0.82;0.8	5.01	3.22	0.36961	.	0.181219	0.48286	D	0.000185	T	0.36552	0.0971	L	0.54323	1.7	0.50632	D	0.999885	B;B;B;B;B	0.24721	0.041;0.003;0.003;0.11;0.041	B;B;B;B;B	0.17433	0.011;0.004;0.004;0.018;0.011	T	0.10567	-1.0624	10	0.23891	T	0.37	-42.1867	6.3283	0.21257	0.1494:0.6989:0.0:0.1517	.	286;200;196;285;280	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	I	280;221;200;196;286;285	ENSP00000273038:V280I;ENSP00000404251:V286I;ENSP00000384705:V285I	ENSP00000273038:V280I	V	-	1	0	VGLL4	11575065	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.501000	0.45389	0.525000	0.28522	-0.216000	0.12614	GTC		0.622	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		16	51	0	0	0	1	0	16	51				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	37	0	0	0	1	0	4	37				
PRSS50	29122	broad.mit.edu	37	3	46755847	46755847	+	Silent	SNP	G	G	A	rs374975497		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	ENST00000460241.1	-	9	2285	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_ENST00000315170.7_Silent_p.N205N			Q9UI38	TSP50_HUMAN	protease, serine, 50	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(613-615)aaC>aaT		protease, serine, 50		G		1,4405	2.1+/-5.4	0,1,2202	92.0	72.0	78.0		615	-4.7	0.0	3		78	0,8600		0,0,4300	no	coding-synonymous	PRSS50	NM_013270.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		205/386	46755847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46755847G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.615C>T	3.37:g.46755847G>A						PRSS50_ENST00000315170.7_Silent_p.N205N	p.N205N			Q9UI38	TSP50_HUMAN			9	2285	-			205			Peptidase S1.			Silent	SNP	ENST00000460241.1	37	c.615C>T	CCDS2745.1																																																																																				0.607	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			9	10	0	0	0	1	0	9	10				
NRROS	375387	broad.mit.edu	37	3	196387770	196387770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:196387770C>T	ENST00000328557.4	+	3	1459	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	419					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGCGTCCCCCCTGGCCTCTTC	0.637																																						ENST00000328557.4																			0											c.(1255-1257)cCt>cTt		negative regulator of reactive oxygen species							87.0	92.0	90.0					3																	196387770		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387770C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1256C>T	3.37:g.196387770C>T	ENSP00000328625:p.Pro419Leu						p.P419L	NM_198565.1	NP_940967.1					3	1459	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1256C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	4.361	0.066474	0.08388	.	.	ENSG00000174004	ENST00000328557	T	0.00840	5.63	6.03	2.22	0.28083	.	1.111250	0.06516	N	0.738914	T	0.01800	0.0057	M	0.70275	2.135	0.22629	N	0.998916	B	0.15930	0.015	B	0.18871	0.023	T	0.48007	-0.9072	10	0.42905	T	0.14	.	6.6521	0.22967	0.3641:0.5098:0.0:0.1262	.	419	Q86YC3	LRC33_HUMAN	L	419	ENSP00000328625:P419L	ENSP00000328625:P419L	P	+	2	0	LRRC33	197872167	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	2.062000	0.41413	0.125000	0.18397	-0.181000	0.13052	CCT		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		38	107	0	0	0	1	0	38	107				
GPATCH3	63906	broad.mit.edu	37	1	27224101	27224101	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	ENST00000361720.5	-	2	590	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	189							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(565-567)ctG>ctA		G patch domain containing 3							41.0	43.0	43.0					1																	27224101		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27224101C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.567G>A	1.37:g.27224101C>T							p.L189L	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	590	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	189					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.567G>A	CCDS290.1																																																																																				0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		17	50	0	0	0	1	0	17	50				
PNMA3	29944	broad.mit.edu	37	X	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	ENST00000370264.4	+	1	1248	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_ENST00000447306.1_Missense_Mutation_p.R408W|PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	408	Arg-rich.				positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1222-1224)Cgg>Tgg		paraneoplastic Ma antigen 3		C	TRP/ARG	0,3835		0,0,0,1632,571	72.0	74.0	74.0		1222	1.1	0.0	X	dbSNP_134	74	2,6726		0,1,1,2427,1871	no	missense	PNMA3	NM_013364.4	101	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	possibly-damaging	408/464	152226634	2,10561	2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226634C>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1222C>T	X.37:g.152226634C>T	ENSP00000359286:p.Arg408Trp					PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W|PNMA3_ENST00000370264.4_Missense_Mutation_p.R408W	p.R408W	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1558	+	Acute lymphoblastic leukemia(192;6.56e-05)		408			Arg-rich.		D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.1222C>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	9.581	1.123669	0.20959	0.0	2.97E-4	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.21543	2.0;2.03;2.03	1.99	1.11	0.20524	Zinc finger, CCHC retroviral-type (1);	.	.	.	.	T	0.13500	0.0327	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.27400	-1.0075	9	0.87932	D	0	.	4.0387	0.09741	0.0:0.7774:0.0:0.2226	.	408	Q9UL41	PNMA3_HUMAN	W	408	ENSP00000359288:R408W;ENSP00000407642:R408W;ENSP00000359286:R408W	ENSP00000359286:R408W	R	+	1	2	PNMA3	151977290	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	0.181000	0.16880	0.312000	0.23038	0.287000	0.19450	CGG		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		37	107	0	0	0	1	0	37	107				
CACNA1A	773	broad.mit.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCGAGGACGATGCAATTC	0.453																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(340-342)Gtc>Atc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						193.0	193.0	193.0					19																	13565980		2042	4220	6262	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13565980C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.340G>A	19.37:g.13565980C>T	ENSP00000353362:p.Val114Ile					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		2	339	-			114					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.340G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112780	0.94339	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.71222	-0.55	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000009	D	0.84678	0.5525	M	0.80422	2.495	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	D	0.86819	0.2003	10	0.72032	D	0.01	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	114;114	O00555;Q9NS88	CAC1A_HUMAN;.	I	114	ENSP00000353362:V114I	ENSP00000317661:V114I	V	-	1	0	CACNA1A	13426980	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	7.684000	0.84104	2.489000	0.83994	0.655000	0.94253	GTC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		43	116	0	0	0	1	0	43	116				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			3	24	1	0	0.00909568	1	0.00919244	3	24				
VPS13C	54832	broad.mit.edu	37	15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	ENST00000261517.5	-	44	4997	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4924-4926)Gcc>Acc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							55.0	54.0	55.0					15																	62238562		2203	4295	6498	SO:0001583	missense	54832				protein localization			g.chr15:62238562C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4924G>A	15.37:g.62238562C>T	ENSP00000261517:p.Ala1642Thr					VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T	p.A1642T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			44	4997	-			1642						Missense_Mutation	SNP	ENST00000261517.5	37	c.4924G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581538	0.65992	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.44482	0.92;0.92;0.92;0.99	5.47	5.47	0.80525	.	0.061555	0.64402	D	0.000005	T	0.56529	0.1991	M	0.74647	2.275	0.53688	D	0.999972	P;P;P;P	0.39044	0.656;0.648;0.517;0.517	P;P;B;B	0.48952	0.477;0.596;0.379;0.391	T	0.57382	-0.7821	10	0.49607	T	0.09	.	15.0809	0.72113	0.1506:0.8494:0.0:0.0	.	1599;1642;1599;1642	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	1599;1642;1642;1642	ENSP00000249837:A1599T;ENSP00000261517:A1642T;ENSP00000379233:A1642T;ENSP00000379235:A1642T	ENSP00000249837:A1599T	A	-	1	0	VPS13C	60025854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.013000	0.57138	2.569000	0.86673	0.650000	0.86243	GCC		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	22	0	0	0	1	0	5	22				
FLNA	2316	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	ENST00000369850.3	-	22	3915	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R|FLNA_ENST00000422373.1_Missense_Mutation_p.G1227R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(3679-3681)Ggg>Agg		filamin A, alpha							37.0	43.0	41.0					X																	153588484		2063	4170	6233	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588484C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3679G>A	X.37:g.153588484C>T	ENSP00000358866:p.Gly1227Arg					FLNA_ENST00000369850.3_Missense_Mutation_p.G1227R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R	p.G1227R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3927	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1227					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3679G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635425	0.67130	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.82	4.8	4.8	0.61643	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	.	17.1938	0.86887	0.0:1.0:0.0:0.0	.	1227;1227	P21333-2;P21333	.;FLNA_HUMAN	R	1227;1200;1227;1227;1227	ENSP00000353467:G1227R;ENSP00000416926:G1227R;ENSP00000358866:G1227R;ENSP00000358863:G1227R	ENSP00000358863:G1227R	G	-	1	0	FLNA	153241678	1.000000	0.71417	0.980000	0.43619	0.497000	0.33675	6.063000	0.71162	1.981000	0.57761	0.436000	0.28706	GGG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			13	76	0	0	0	1	0	13	76				
ZNF280B	140883	broad.mit.edu	37	22	22843526	22843526	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	ENST00000406426.1	-	4	940	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ZNF280B_ENST00000360412.2_Silent_p.P66P			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(196-198)ccG>ccA		zinc finger protein 280B							143.0	130.0	135.0					22																	22843526		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.198G>A	22.37:g.22843526C>T						ZNF280B_ENST00000406426.1_Silent_p.P66P	p.P66P	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	973	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	66						Silent	SNP	ENST00000406426.1	37	c.198G>A	CCDS13799.1																																																																																				0.408	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		14	78	0	0	0	1	0	14	78				
OR5M3	219482	broad.mit.edu	37	11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	ENST00000312240.2	-	1	683	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(643-645)Tct>Act		olfactory receptor, family 5, subfamily M, member 3							93.0	91.0	92.0					11																	56237331		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237331A>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.643T>A	11.37:g.56237331A>T	ENSP00000312208:p.Ser215Thr						p.S215T	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	683	-	Esophageal squamous(21;0.00448)		215					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.643T>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887447	0.33348	.	.	ENSG00000174937	ENST00000312240	T	0.42900	0.96	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000868	T	0.65688	0.2715	M	0.89478	3.035	0.09310	N	0.999995	D	0.55605	0.972	P	0.60415	0.874	T	0.64433	-0.6409	10	0.87932	D	0	-19.7439	12.8019	0.57591	1.0:0.0:0.0:0.0	.	215	Q8NGP4	OR5M3_HUMAN	T	215	ENSP00000312208:S215T	ENSP00000312208:S215T	S	-	1	0	OR5M3	55993907	0.999000	0.42202	0.085000	0.20634	0.016000	0.09150	4.092000	0.57707	1.897000	0.54924	0.448000	0.29417	TCT		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		31	91	0	0	0	1	0	31	91				
FUT10	84750	broad.mit.edu	37	8	33318925	33318925	+	Missense_Mutation	SNP	C	C	T	rs368379310		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:33318925C>T	ENST00000327671.5	-	2	677	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	FUT10_ENST00000518672.1_Intron|FUT10_ENST00000524021.1_Intron|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552																																						ENST00000327671.5																			1	Substitution - Missense(1)	p.V16F(1)	lung(1)	cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(46-48)Gtc>Atc		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)		C	ILE/VAL	0,4406		0,0,2203	193.0	140.0	158.0		46	-8.0	0.3	8		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUT10	NM_032664.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	16/480	33318925	1,13005	2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33318925C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.46G>A	8.37:g.33318925C>T	ENSP00000332757:p.Val16Ile					FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000335589.3_5'UTR	p.V16I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	2	677	-			16					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.46G>A	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	4.119	0.020267	0.08006	0.0	1.16E-4	ENSG00000172728	ENST00000327671;ENST00000380081	T	0.23950	1.88	5.79	-7.96	0.01144	.	4.130980	0.00397	N	0.000045	T	0.06142	0.0159	N	0.01352	-0.895	0.18873	N	0.999984	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.32375	-0.9909	10	0.02654	T	1	-4.1582	5.2209	0.15368	0.1187:0.5015:0.1214:0.2584	.	16;16;16	B4DLS4;Q6P4F1-5;Q6P4F1	.;.;FUT10_HUMAN	I	16	ENSP00000332757:V16I	ENSP00000332757:V16I	V	-	1	0	FUT10	33438467	0.000000	0.05858	0.268000	0.24571	0.925000	0.55904	-3.147000	0.00583	-1.286000	0.02384	-0.304000	0.09214	GTC		0.552	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		25	54	0	0	0	1	0	25	54				
MFGE8	4240	broad.mit.edu	37	15	89453060	89453060	+	Silent	SNP	C	C	T	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	ENST00000566497.1	-	2	229	c.168G>A	c.(166-168)acG>acA	p.T56T	MFGE8_ENST00000268151.7_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000539437.1_Silent_p.T48T|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268150.8_Silent_p.T56T			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	56	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557													C|||	6	0.00119808	0.0	0.0	5008	,	,		22476	0.0		0.006	False		,,,				2504	0.0					ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(142-144)acG>acA		milk fat globule-EGF factor 8 protein		C	,	0,4400		0,0,2200	176.0	138.0	151.0		168,168	-1.8	0.0	15	dbSNP_134	151	18,8580	12.6+/-44.7	0,18,4281	no	coding-synonymous,coding-synonymous	MFGE8	NM_001114614.1,NM_005928.2	,	0,18,6481	TT,TC,CC		0.2094,0.0,0.1385	,	56/336,56/388	89453060	18,12980	2200	4299	6499	SO:0001819	synonymous_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453060C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.168G>A	15.37:g.89453060C>T						MFGE8_ENST00000566497.1_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.T56T|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268151.7_Silent_p.T56T	p.T48T			Q08431	MFGM_HUMAN			3	280	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		56			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	c.144G>A	CCDS10347.1																																																																																				0.557	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		21	82	0	0	0	1	0	21	82				
CILP2	148113	broad.mit.edu	37	19	19655450	19655450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:19655450G>A	ENST00000291495.5	+	8	2181	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	CILP2_ENST00000586018.1_Missense_Mutation_p.R705H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCTTCCGGCGCGAGGGGTCC	0.706																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2113-2115)cGc>cAc		cartilage intermediate layer protein 2							4.0	6.0	5.0					19																	19655450		1947	3878	5825	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655450G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2096G>A	19.37:g.19655450G>A	ENSP00000291495:p.Arg699His					CILP2_ENST00000291495.4_Missense_Mutation_p.R699H	p.R705H			Q8IUL8	CILP2_HUMAN			8	2216	+			699					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2114G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	0.439	-0.899606	0.02472	.	.	ENSG00000160161	ENST00000291495	T	0.44482	0.92	4.35	-5.35	0.02697	.	1.221540	0.05510	N	0.560103	T	0.15046	0.0363	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.06405	0.002;0.001	T	0.17167	-1.0378	10	0.15499	T	0.54	-1.7514	4.1675	0.10313	0.1668:0.5019:0.2037:0.1275	.	699;699	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	699	ENSP00000291495:R699H	ENSP00000291495:R699H	R	+	2	0	CILP2	19516450	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.092000	0.15066	-0.553000	0.06158	-1.153000	0.01818	CGC		0.706	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		3	7	0	0	0	1	0	3	7				
ANKK1	255239	broad.mit.edu	37	11	113269791	113269791	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:113269791A>C	ENST00000303941.3	+	8	1194	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	367			H -> Q (in dbSNP:rs34298987). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCCCTCCACTTCCTGGTG	0.597																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1099-1101)cAc>cCc		ankyrin repeat and kinase domain containing 1							37.0	39.0	39.0					11																	113269791		2008	4173	6181	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113269791A>C	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1100A>C	11.37:g.113269791A>C	ENSP00000306678:p.His367Pro						p.H367P	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1194	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	367		H -> Q (in dbSNP:rs34298987).				Missense_Mutation	SNP	ENST00000303941.3	37	c.1100A>C	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614384	0.28712	.	.	ENSG00000170209	ENST00000303941	T	0.71698	-0.59	4.69	3.57	0.40892	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000014	D	0.86087	0.5849	M	0.93283	3.4	0.45427	D	0.998403	D	0.89917	1.0	D	0.85130	0.997	D	0.86731	0.1948	10	0.72032	D	0.01	-17.709	9.4089	0.38480	0.9156:0.0:0.0844:0.0	.	367	Q8NFD2	ANKK1_HUMAN	P	367	ENSP00000306678:H367P	ENSP00000306678:H367P	H	+	2	0	ANKK1	112775001	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	5.831000	0.69330	0.830000	0.34757	0.374000	0.22700	CAC		0.597	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		4	14	0	0	0	1	0	4	14				
ZCCHC4	29063	broad.mit.edu	37	4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	ENST00000302874.4	+	7	925	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	301							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(901-903)Caa>Taa		zinc finger, CCHC domain containing 4							129.0	123.0	124.0					4																	25351255		1828	4089	5917	SO:0001587	stop_gained	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25351255C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.901C>T	4.37:g.25351255C>T	ENSP00000303468:p.Gln301*					ZCCHC4_ENST00000505451.1_3'UTR	p.Q301*	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			7	925	+		Breast(46;0.0503)	301					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Nonsense_Mutation	SNP	ENST00000302874.4	37	c.901C>T	CCDS43218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.242039|4.242039	0.79912|0.79912	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	.|.	.|.	.|.	5.51|5.51	4.66|4.66	0.58398|0.58398	.|.	0.419332|.	0.29192|.	N|.	0.012876|.	.|T	.|0.44456	.|0.1294	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53429	.|-0.8440	.|3	0.23891|.	T|.	0.37|.	-13.7189|-13.7189	7.0488|7.0488	0.25061|0.25061	0.0:0.7341:0.1756:0.0903|0.0:0.7341:0.1756:0.0903	.|.	.|.	.|.	.|.	X|L	301|165	.|.	ENSP00000303468:Q301X|.	Q|S	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24960353|24960353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.414000|1.414000	0.34736|0.34736	2.579000|2.579000	0.87056|0.87056	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.378	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			28	68	0	0	0	1	0	28	68				
CCDC134	79879	broad.mit.edu	37	22	42221755	42221755	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	ENST00000255784.5	+	7	722	c.618C>A	c.(616-618)cgC>cgA	p.R206R	CCDC134_ENST00000402061.3_Silent_p.R93R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532																																						ENST00000255784.5																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(616-618)cgC>cgA		coiled-coil domain containing 134							74.0	70.0	71.0					22																	42221755		2203	4300	6503	SO:0001819	synonymous_variant	79879					extracellular region		g.chr22:42221755C>A	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.618C>A	22.37:g.42221755C>A						CCDC134_ENST00000402061.3_Silent_p.R93R	p.R206R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN			7	722	+			206			Arg/Glu/Lys-rich (mixed charge).			Silent	SNP	ENST00000255784.5	37	c.618C>A	CCDS33654.1																																																																																				0.532	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		18	50	1	0	3.52763e-06	1	3.72361e-06	18	50				
NIT2	56954	broad.mit.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	rs183950946	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	5	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		24193	0.0		0.0	False		,,,				2504	0.0					ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(13-15)Cgc>Tgc		nitrilase family, member 2							143.0	142.0	142.0					3																	100057936		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100057936C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.13C>T	3.37:g.100057936C>T	ENSP00000377696:p.Arg5Cys						p.R5C	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			2	104	+			5			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.13C>T	CCDS33806.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	21.8|21.8	4.199522|4.199522	0.79015|0.79015	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.88354	.|-2.37	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95484|0.95484	0.8533|0.8533	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.958;0.991	D|D	0.96030|0.96030	0.9016|0.9016	5|10	.|0.87932	.|D	.|0	-5.125|-5.125	19.112|19.112	0.93319|0.93319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5;5	.|B7Z3F9;Q9NQR4	.|.;NIT2_HUMAN	L|C	98|5	.|ENSP00000377696:R5C	.|ENSP00000377696:R5C	P|R	+|+	2|1	0|0	NIT2|NIT2	101540626|101540626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.588000|0.588000	0.36517|0.36517	4.984000|4.984000	0.63838|0.63838	2.594000|2.594000	0.87642|0.87642	0.484000|0.484000	0.47621|0.47621	CCG|CGC		0.473	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		33	99	0	0	0	1	0	33	99				
COL20A1	57642	broad.mit.edu	37	20	61951525	61951525	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:61951525G>A	ENST00000358894.6	+	24	3151	c.3051G>A	c.(3049-3051)agG>agA	p.R1017R	COL20A1_ENST00000422202.1_Silent_p.R1024R|COL20A1_ENST00000326996.6_Silent_p.R1017R|COL20A1_ENST00000435874.1_Silent_p.R1024R	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3070-3072)agG>agA		collagen, type XX, alpha 1							6.0	7.0	7.0					20																	61951525		1814	3910	5724	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951525G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3051G>A	20.37:g.61951525G>A						COL20A1_ENST00000358894.6_Silent_p.R1017R|COL20A1_ENST00000326996.6_Silent_p.R1017R|COL20A1_ENST00000435874.1_Silent_p.R1024R	p.R1024R			Q9P218	COKA1_HUMAN			23	3140	+	all_cancers(38;1.39e-10)		1017			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3072G>A	CCDS46628.1																																																																																				0.736	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	14	0	0	0	1	0	7	14				
GPR42	2866	broad.mit.edu	37	19	35862414	35862414	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:35862414C>T	ENST00000454971.1	+	2	354	c.153C>T	c.(151-153)gaC>gaT	p.D51D	GPR42_ENST00000597214.1_Silent_p.D51D			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	51						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)	p.D51D(1)		endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCGTGGACGTGCTCCTGC	0.662																																						ENST00000454971.1																			1	Substitution - coding silent(1)	p.D51D(1)	kidney(1)	endometrium(1)|kidney(1)|skin(2)	4						c.(151-153)gaC>gaT		G protein-coupled receptor 42 (gene/pseudogene)							79.0	67.0	72.0					19																	35862414		1611	2547	4158	SO:0001819	synonymous_variant	2866							g.chr19:35862414C>T	AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.153C>T	19.37:g.35862414C>T						GPR42_ENST00000597214.1_Silent_p.D51D	p.D51D					Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	354	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)								Silent	SNP	ENST00000454971.1	37	c.153C>T																																																																																					0.662	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347518.1	NM_005305		29	29	0	0	0	1	0	29	29				
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	55						7	55	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C	rs376935907		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCTTCATCCCTCACCCCCCCCC	0.46																																						ENST00000430126.2																			0																																																			0							g.chr7:65150814_65150815insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150815_65150815dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.460	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		6	10						6	10	---	---	---	---
MRPL41	64975	broad.mit.edu	37	9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-	rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	ENST00000371443.5	+	2	1051	c.263delC	c.(262-264)gccfs	p.A89fs	PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	89					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(262-264)gcfs		mitochondrial ribosomal protein L41							40.0	35.0	37.0					9																	140446796		2201	4298	6499	SO:0001589	frameshift_variant	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446796delC	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.263delC	9.37:g.140446796delC	ENSP00000360498:p.Ala89fs						p.A89fs	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	1051	+	all_cancers(76;0.106)		89					Q96Q49	Frame_Shift_Del	DEL	ENST00000371443.5	37	c.263delC	CCDS7046.1																																																																																				0.627	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		10	44						10	44	---	---	---	---
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488|rs3832799|rs369257660		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(148-150)gca>gGCAca		achaete-scute family bHLH transcription factor 1																																				SO:0001652	inframe_insertion	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352171_103352172insGCA	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.183_185dupGCA	12.37:g.103352178_103352180dupGCA	ENSP00000266744:p.Gln62_Gln62dup						p.50_50A>GT	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	708_709	+			50					A8K3C4|Q9BQ30	In_Frame_Ins	INS	ENST00000266744.3	37	c.149_150insGCA	CCDS31886.1																																																																																				0.757	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			3	3						3	3	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	79						9	79	---	---	---	---
