#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	43597996	43597996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	ENST00000355710.3	+	3	776	c.544C>T	c.(544-546)Cca>Tca	p.P182S	RET_ENST00000340058.5_Missense_Mutation_p.P182S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	182	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAACCGACCCCCAGGCACCTT	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													82.0	66.0	72.0					10																	43597996		2203	4300	6503	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.544C>T	10.37:g.43597996C>T	ENSP00000347942:p.Pro182Ser		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792557	0.50102	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.49720	0.77;0.77	5.09	3.21	0.36854	Cadherin (3);Cadherin-like (1);	0.051608	0.85682	N	0.000000	T	0.43523	0.1251	M	0.65498	2.005	0.48901	D	0.999726	P;P	0.41848	0.763;0.72	B;B	0.38225	0.268;0.175	T	0.38672	-0.9650	10	0.66056	D	0.02	.	8.8327	0.35093	0.1499:0.7697:0.0:0.0803	.	182;182	P07949;P07949-2	RET_HUMAN;.	S	182	ENSP00000347942:P182S;ENSP00000344798:P182S	ENSP00000344798:P182S	P	+	1	0	RET	42918002	0.805000	0.28982	0.005000	0.12908	0.961000	0.63080	2.154000	0.42291	0.512000	0.28257	0.655000	0.94253	CCA		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		23	20	23	20
PTEN	5728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	rs587782343		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> F (in BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		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.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(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)		AAACCCTTTTGTGAAGATCTT	0.373		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)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	63	Whole gene deletion(37)|Substitution - Missense(11)|Deletion - Frameshift(10)|Unknown(5)	central_nervous_system(23)|prostate(16)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CM991080	PTEN	M							112.0	104.0	106.0					10																	89692830		2203	4297	6500	SO:0001583	missense	5728	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.	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.314G>A	10.37:g.89692830G>A	ENSP00000361021:p.Cys105Tyr		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628440	0.87560	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94848	0.8011	9	.	.	.	-9.9762	18.4584	0.90729	0.0:0.0:1.0:0.0	.	105	P60484	PTEN_HUMAN	Y	105	ENSP00000361021:C105Y	.	C	+	2	0	PTEN	89682810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGT		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		48	48	48	48
EFEMP2	30008	hgsc.bcm.edu;broad.mit.edu	37	11	65635447	65635447	+	Missense_Mutation	SNP	G	G	A	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	ENST00000307998.6	-	10	1285	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S352L|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	352					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627																																																0								G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	104.0	94.0	97.0		1055	5.4	1.0	11	dbSNP_134	97	0,8592		0,0,4296	no	missense	EFEMP2	NM_016938.4	145	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	352/444	65635447	1,12993	2201	4296	6497	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1055C>T	11.37:g.65635447G>A	ENSP00000309953:p.Ser352Leu		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765067	0.96906	2.27E-4	0.0	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;D	0.87966	-2.32;-2.02;-1.68;-1.58;-1.55	5.37	5.37	0.77165	.	0.000000	0.46442	D	0.000281	D	0.86096	0.5851	M	0.79926	2.475	0.80722	D	1	D;P	0.54772	0.968;0.897	B;B	0.37480	0.251;0.148	D	0.86487	0.1795	10	0.30854	T	0.27	.	16.5806	0.84714	0.0:0.0:1.0:0.0	.	352;352	E9PRU1;O95967	.;FBLN4_HUMAN	L	11;68;352;352;5	ENSP00000436536:S11L;ENSP00000436521:S68L;ENSP00000434151:S352L;ENSP00000309953:S352L;ENSP00000436526:S5L	ENSP00000309953:S352L	S	-	2	0	EFEMP2	65392023	1.000000	0.71417	0.960000	0.40013	0.917000	0.54804	9.416000	0.97383	2.529000	0.85273	0.455000	0.32223	TCG		0.627	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		7	108	7	108
AMICA1	120425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	118074285	118074285	+	Silent	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	ENST00000356289.5	-	6	803	c.630G>C	c.(628-630)ggG>ggC	p.G210G	AMICA1_ENST00000292067.7_Silent_p.G200G|AMICA1_ENST00000533261.1_Silent_p.G199G|AMICA1_ENST00000526620.1_Silent_p.G171G	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	210	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507																																																0													162.0	156.0	158.0					11																	118074285		2200	4296	6496	SO:0001819	synonymous_variant	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.630G>C	11.37:g.118074285C>G			B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	CCDS41723.1																																																																																				0.507	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		22	136	22	136
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	103984727	103984727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	ENST00000388887.2	+	2	338	c.134C>T	c.(133-135)tCc>tTc	p.S45F	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGTGCCGATCCTGCGCTCTC	0.423																																																0													134.0	132.0	133.0					12																	103984727		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.134C>T	12.37:g.103984727C>T	ENSP00000373539:p.Ser45Phe			Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515918	0.44763	.	.	ENSG00000136011	ENST00000388887	T	0.34859	1.34	6.17	5.29	0.74685	.	0.207011	0.42420	D	0.000711	T	0.45074	0.1324	M	0.67517	2.055	0.40268	D	0.978256	P	0.43578	0.811	P	0.46172	0.506	T	0.50964	-0.8765	10	0.72032	D	0.01	.	12.9153	0.58203	0.0:0.9244:0.0:0.0756	.	45	Q8WWQ8	STAB2_HUMAN	F	45	ENSP00000373539:S45F	ENSP00000373539:S45F	S	+	2	0	STAB2	102508857	0.997000	0.39634	0.851000	0.33527	0.001000	0.01503	4.725000	0.61979	1.630000	0.50440	0.655000	0.94253	TCC		0.423	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			25	76	25	76
EFNB3	1949	hgsc.bcm.edu;broad.mit.edu	37	17	7611424	7611424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	ENST00000226091.2	+	2	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	91	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.R91C(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602																																																1	Substitution - Missense(1)	large_intestine(1)											62.0	68.0	66.0					17																	7611424		2203	4300	6503	SO:0001583	missense	1949			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.271C>T	17.37:g.7611424C>T	ENSP00000226091:p.Arg91Cys		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.981039	0.34942	.	.	ENSG00000108947	ENST00000226091	D	0.93488	-3.23	4.98	4.98	0.66077	Cupredoxin (2);	0.067130	0.56097	D	0.000025	D	0.94463	0.8218	L	0.43152	1.355	0.46823	D	0.99921	D	0.89917	1.0	D	0.73708	0.981	D	0.94239	0.7483	10	0.62326	D	0.03	0.4507	12.2855	0.54789	0.1698:0.8302:0.0:0.0	.	91	Q15768	EFNB3_HUMAN	C	91	ENSP00000226091:R91C	ENSP00000226091:R91C	R	+	1	0	EFNB3	7552149	0.986000	0.35501	1.000000	0.80357	0.087000	0.18053	0.509000	0.22707	2.576000	0.86940	0.574000	0.79327	CGC		0.602	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		10	127	10	127
MYH13	8735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10214497	10214497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	ENST00000418404.3	-	32	4742	c.4579C>A	c.(4579-4581)Ctt>Att	p.L1527I	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L1527I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1527					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTCCTGAAGATTCTTGCCA	0.443																																																0													116.0	105.0	109.0					17																	10214497		1881	4111	5992	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4579C>A	17.37:g.10214497G>T	ENSP00000404570:p.Leu1527Ile		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	0.428	-0.904929	0.02453	.	.	ENSG00000006788	ENST00000252172	T	0.78364	-1.17	3.98	2.92	0.33932	Myosin tail (1);	.	.	.	.	T	0.45836	0.1362	N	0.01473	-0.845	0.26533	N	0.974221	B	0.02656	0.0	B	0.09377	0.004	T	0.34900	-0.9810	9	0.02654	T	1	.	9.5324	0.39202	0.0:0.0:0.5709:0.4291	.	1527	Q9UKX3	MYH13_HUMAN	I	1527	ENSP00000252172:L1527I	ENSP00000252172:L1527I	L	-	1	0	MYH13	10155222	0.001000	0.12720	0.995000	0.50966	0.497000	0.33675	0.581000	0.23819	2.218000	0.71995	0.462000	0.41574	CTT		0.443	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		18	53	18	53
ZNF519	162655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	14106371	14106371	+	Silent	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	ENST00000590202.1	-	3	320	c.168G>A	c.(166-168)gaG>gaA	p.E56E	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGCCTTGCTCTGGTAAAA	0.333																																																0													41.0	42.0	42.0					18																	14106371		2184	4289	6473	SO:0001819	synonymous_variant	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.168G>A	18.37:g.14106371C>T				Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.333	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		16	34	16	34
ICAM5	7087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10401990	10401990	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	ENST00000221980.4	+	2	388	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	109	Ig-like C2-type 1.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682																																																0													40.0	43.0	42.0					19																	10401990		2203	4299	6502	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.325C>G	19.37:g.10401990C>G	ENSP00000221980:p.Gln109Glu		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709486	0.30322	.	.	ENSG00000105376	ENST00000221980	T	0.13307	2.6	4.66	4.66	0.58398	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.421965	0.23551	N	0.046977	T	0.06962	0.0177	N	0.24115	0.695	0.33278	D	0.561875	P	0.35401	0.499	B	0.26094	0.066	T	0.05886	-1.0858	10	0.02654	T	1	-17.1126	12.9758	0.58537	0.0:1.0:0.0:0.0	.	109	Q9UMF0	ICAM5_HUMAN	E	109	ENSP00000221980:Q109E	ENSP00000221980:Q109E	Q	+	1	0	ICAM5	10262990	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.791000	0.55469	2.422000	0.82143	0.543000	0.68304	CAG		0.682	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		32	63	32	63
AMPD1	270	hgsc.bcm.edu;ucsc.edu	37	1	115229523	115229523	+	Missense_Mutation	SNP	C	C	T	rs61738827	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:115229523C>T	ENST00000520113.2	-	4	338	c.323G>A	c.(322-324)cGt>cAt	p.R108H	AMPD1_ENST00000369538.3_Missense_Mutation_p.R104H|AMPD1_ENST00000353928.6_Missense_Mutation_p.R75H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	108					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCCTTGGAAACGCTTTTTTCT	0.358													C|||	24	0.00479233	0.0015	0.0043	5008	,	,		21158	0.0		0.003	False		,,,				2504	0.0164															0								C	HIS/ARG,HIS/ARG	5,4401	8.1+/-20.4	0,5,2198	129.0	129.0	129.0		323,311	4.5	1.0	1	dbSNP_129	129	33,8567	24.0+/-70.4	0,33,4267	yes	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	29,29	0,38,6465	TT,TC,CC		0.3837,0.1135,0.2922	benign,benign	108/781,104/777	115229523	38,12968	2203	4300	6503	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.323G>A	1.37:g.115229523C>T	ENSP00000430075:p.Arg108His		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	7	0.003205128205128205	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	14.65	2.597663	0.46318	0.001135	0.003837	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.42513	0.97;0.97;0.97	5.41	4.5	0.54988	.	11.368800	0.00906	U	0.002416	T	0.39860	0.1094	M	0.63428	1.95	0.41402	D	0.987684	D;P	0.61697	0.99;0.574	P;B	0.48598	0.583;0.081	T	0.30090	-0.9990	10	0.45353	T	0.12	-7.4765	12.2919	0.54823	0.0:0.9199:0.0:0.0801	.	104;75	Q5TF02;P23109	.;AMPD1_HUMAN	H	108;104;75	ENSP00000430075:R108H;ENSP00000358551:R104H;ENSP00000316520:R75H	ENSP00000316520:R75H	R	-	2	0	AMPD1	115031046	0.970000	0.33590	0.996000	0.52242	0.888000	0.51559	2.198000	0.42705	1.286000	0.44565	0.563000	0.77884	CGT		0.358	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			34	57	34	57
TMEM206	55248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	212553255	212553255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	ENST00000261455.4	-	5	757	c.620T>C	c.(619-621)tTc>tCc	p.F207S	TMEM206_ENST00000535273.1_Missense_Mutation_p.F268S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	207						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498																																																0													90.0	95.0	93.0					1																	212553255		2203	4300	6503	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.620T>C	1.37:g.212553255A>G	ENSP00000261455:p.Phe207Ser		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705229	0.68615	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	4.43	0.53597	.	0.136806	0.64402	D	0.000002	T	0.51075	0.1653	L	0.32530	0.975	0.53005	D	0.999968	D;B	0.57257	0.979;0.328	P;B	0.52957	0.714;0.116	T	0.52961	-0.8505	9	0.87932	D	0	-16.2942	9.7116	0.40249	0.6935:0.0:0.0:0.3065	.	268;207	B7Z4D6;Q9H813	.;TM206_HUMAN	S	207;268	.	ENSP00000261455:F207S	F	-	2	0	TMEM206	210619878	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.040000	0.57333	0.924000	0.37069	0.529000	0.55759	TTC		0.498	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		36	94	36	94
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179637874	179637874	+	Missense_Mutation	SNP	G	G	A	rs370857722		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	ENST00000591111.1	-	33	8041	c.7817C>T	c.(7816-7818)gCg>gTg	p.A2606V	TTN_ENST00000342992.6_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2560V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560V|TTN_ENST00000342175.6_Missense_Mutation_p.A2560V|TTN_ENST00000589042.1_Missense_Mutation_p.A2606V			Q8WZ42	TITIN_HUMAN	titin	12929					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289																																																0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	51.0	54.0	53.0		7679,7817,7817,7679,7679	5.6	1.0	2		53	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	64,64,64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2560/26927,2606/33424,2606/5605,2560/27052,2560/27119	179637874	2,13002	2202	4300	6502	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7817C>T	2.37:g.179637874G>A	ENSP00000465570:p.Ala2606Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363768	0.41902	0.0	2.33E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81659	0.4869	L	0.50847	1.595	0.32931	D	0.517107	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.999;1.0	P;P;P;P;D	0.71414	0.812;0.812;0.812;0.889;0.973	D	0.84939	0.0864	9	0.87932	D	0	.	19.6016	0.95566	0.0:0.0:1.0:0.0	.	2560;2560;2560;2606;2606	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2606;2560;2560;2560;2560;2606	ENSP00000343764:A2606V;ENSP00000434586:A2560V;ENSP00000340554:A2560V;ENSP00000352154:A2560V;ENSP00000354117:A2606V	ENSP00000340554:A2560V	A	-	2	0	TTN	179346119	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.019000	0.88732	2.642000	0.89623	0.650000	0.86243	GCG		0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	38	13	38
CELSR3	1951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	48698353	48698353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	ENST00000164024.4	-	1	1995	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R572Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	572	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607																																																0													72.0	53.0	59.0					3																	48698353		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1715G>A	3.37:g.48698353C>T	ENSP00000164024:p.Arg572Gln		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100686	0.37048	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01725	4.67;4.67	5.72	0.423	0.16463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01156	0.0038	N	0.21097	0.63	0.09310	N	1	B;B	0.16396	0.003;0.017	B;B	0.13407	0.009;0.005	T	0.49716	-0.8910	9	0.18276	T	0.48	.	0.7731	0.01028	0.2933:0.3308:0.1063:0.2697	.	572;642	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	572	ENSP00000164024:R572Q;ENSP00000445694:R572Q	ENSP00000164024:R572Q	R	-	2	0	CELSR3	48673357	0.000000	0.05858	0.292000	0.24919	0.914000	0.54420	0.197000	0.17197	0.333000	0.23563	0.655000	0.94253	CGG		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		9	32	9	32
OTOP1	133060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	4214703	4214703	+	Silent	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	ENST00000296358.4	-	2	456	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	144					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388																																																0													60.0	54.0	56.0					4																	4214703		2203	4300	6503	SO:0001819	synonymous_variant	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.432C>T	4.37:g.4214703G>A			A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.388	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		18	35	18	35
FBXL7	23194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	15936897	15936897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	ENST00000504595.1	+	4	1559	c.1078T>A	c.(1078-1080)Tgc>Agc	p.C360S	FBXL7_ENST00000329673.7_Missense_Mutation_p.C348S|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.C313S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	360					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATCGCGCACTGCGGCCGGGT	0.677																																																0													33.0	37.0	36.0					5																	15936897		2186	4272	6458	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1078T>A	5.37:g.15936897T>A	ENSP00000423630:p.Cys360Ser		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686121	0.68157	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.18174	2.23;2.23;2.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63409	-0.6644	10	0.87932	D	0	.	15.3717	0.74570	0.0:0.0:0.0:1.0	.	360	Q9UJT9	FBXL7_HUMAN	S	360;313;348	ENSP00000423630:C360S;ENSP00000425184:C313S;ENSP00000329632:C348S	ENSP00000329632:C348S	C	+	1	0	FBXL7	15989897	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.841000	0.86834	2.042000	0.60477	0.533000	0.62120	TGC		0.677	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	9	4	9
DMXL1	1657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	118485663	118485663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	ENST00000311085.8	+	18	4221	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453																																																0													75.0	75.0	75.0					5																	118485663		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4141A>T	5.37:g.118485663A>T	ENSP00000309690:p.Ser1381Cys			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521026	0.64747	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.42513	0.97;0.97	5.43	5.43	0.79202	.	0.034797	0.85682	D	0.000000	T	0.67832	0.2935	M	0.86953	2.85	0.58432	D	0.999996	D;P	0.76494	0.999;0.944	D;P	0.64776	0.929;0.843	T	0.74954	-0.3488	10	0.87932	D	0	-0.947	15.7657	0.78126	1.0:0.0:0.0:0.0	.	1381;1381	F5H269;Q9Y485	.;DMXL1_HUMAN	C	1381	ENSP00000309690:S1381C;ENSP00000439479:S1381C	ENSP00000309690:S1381C	S	+	1	0	DMXL1	118513562	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.910000	0.92685	2.187000	0.69744	0.460000	0.39030	AGC		0.453	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		17	43	17	43
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000262464.4_Missense_Mutation_p.R270H|FBN2_ENST00000508989.1_Missense_Mutation_p.R237H			P35556	FBN2_HUMAN	fibrillin 2	270					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16211	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	91.0	85.0	87.0		809	5.1	1.0	5	dbSNP_134	87	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	270/2913	127800434	5,13001	2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.809G>A	5.37:g.127800434C>T	ENSP00000424571:p.Arg270His		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919560	0.73098	0.001135	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.87334	-2.24;-2.24;-2.24;-0.66	5.07	5.07	0.68467	Matrix fibril-associated (2);	0.153856	0.43110	D	0.000619	D	0.86785	0.6016	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.972;0.987;0.987	D	0.86427	0.1758	10	0.28530	T	0.3	.	19.3313	0.94291	0.0:1.0:0.0:0.0	.	237;270;237;270	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	270;270;237;270	ENSP00000262464:R270H;ENSP00000424571:R270H;ENSP00000425596:R237H;ENSP00000424753:R270H	ENSP00000262464:R270H	R	-	2	0	FBN2	127828333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.729000	0.84864	2.737000	0.93849	0.585000	0.79938	CGC		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		35	64	35	64
HIST1H2AC	8334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26124693	26124693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	ENST00000602637.1	+	1	263	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R78H|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	78						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGAAGACTCGCATCATCCCG	0.652																																																0													101.0	97.0	99.0					6																	26124693		2203	4300	6503	SO:0001583	missense	8334			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.233G>A	6.37:g.26124693G>A	ENSP00000473534:p.Arg78His		B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.871206	0.91587	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.69435	-0.4;-0.4	5.5	5.5	0.81552	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.45361	D	0.000366	D	0.87873	0.6287	H	0.97587	4.035	0.47374	D	0.9994	D	0.89917	1.0	D	0.97110	1.0	D	0.91500	0.5218	10	0.87932	D	0	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	78	Q93077	H2A1C_HUMAN	H	78	ENSP00000367022:R78H;ENSP00000321389:R78H	ENSP00000321389:R78H	R	+	2	0	HIST1H2AC	26232672	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.760000	0.85248	2.750000	0.94351	0.467000	0.42956	CGC		0.652	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		51	86	51	86
PTCHD4	442213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	47846864	47846864	+	Silent	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:47846864G>A	ENST00000339488.4	-	3	1749	c.1716C>T	c.(1714-1716)atC>atT	p.I572I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	572						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GCAGGACACTGATGAAGTCAC	0.428																																																0													55.0	51.0	53.0					6																	47846864		2203	4300	6503	SO:0001819	synonymous_variant	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1716C>T	6.37:g.47846864G>A			B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	CCDS34473.2																																																																																				0.428	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	19	9	19
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	152783987	152783987	+	Silent	SNP	T	T	C			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	ENST00000367255.5	-	20	2737	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E	SYNE1_ENST00000413186.2_Silent_p.E712E|SYNE1_ENST00000448038.1_Silent_p.E719E|SYNE1_ENST00000341594.5_Silent_p.E719E|SYNE1_ENST00000367248.3_Silent_p.E702E|SYNE1_ENST00000265368.4_Silent_p.E712E|SYNE1_ENST00000495090.2_Silent_p.E279E|SYNE1_ENST00000423061.1_Silent_p.E719E|SYNE1_ENST00000466159.2_Silent_p.E712E|SYNE1_ENST00000367253.4_Silent_p.E712E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	712					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTCTGTGTATTCCTTCTTCA	0.433										HNSCC(10;0.0054)																																						0													124.0	120.0	121.0					6																	152783987		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2136A>G	6.37:g.152783987T>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	68	16	68
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	157454205	157454205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	ENST00000350026.5	+	7	2377	c.2376T>A	c.(2374-2376)taT>taA	p.Y792*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y734*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Y805*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	792					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463																																																0													108.0	95.0	99.0					6																	157454205		2203	4300	6503	SO:0001587	stop_gained	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2376T>A	6.37:g.157454205T>A	ENSP00000055163:p.Tyr792*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	33	5.237388	0.95240	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	.	.	.	5.96	-0.913	0.10500	.	0.062165	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1579	0.42833	0.0:0.3818:0.0:0.6182	.	.	.	.	X	805;792;792;734;209;176;261;214	.	ENSP00000275248:Y734X	Y	+	3	2	ARID1B	157495897	0.997000	0.39634	0.991000	0.47740	0.998000	0.95712	0.328000	0.19681	-0.379000	0.07906	0.533000	0.62120	TAT		0.463	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		29	40	29	40
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	121684517	121684517	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	ENST00000393386.2	+	23	6390	c.5979A>G	c.(5977-5979)atA>atG	p.I1993M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1126M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1993					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAGGCCATACTTAGTAAAG	0.393																																																0													180.0	167.0	171.0					7																	121684517		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5979A>G	7.37:g.121684517A>G	ENSP00000377047:p.Ile1993Met		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453207	0.63290	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.15718	2.4;2.4	5.65	-9.78	0.00496	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.000000	0.64402	D	0.000001	T	0.32763	0.0840	M	0.83603	2.65	0.40576	D	0.981343	D;D;D	0.76494	0.998;0.992;0.999	D;D;D	0.74674	0.954;0.954;0.984	T	0.62807	-0.6776	10	0.87932	D	0	.	11.4873	0.50361	0.16:0.5078:0.0:0.3322	.	1132;1126;1993	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	M	1993;1126	ENSP00000377047:I1993M;ENSP00000410000:I1126M	ENSP00000377047:I1993M	I	+	3	3	PTPRZ1	121471753	0.003000	0.15002	0.384000	0.26145	0.879000	0.50718	-1.079000	0.03410	-1.511000	0.01794	-0.316000	0.08728	ATA		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		36	97	36	97
GDF6	392255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	97157718	97157718	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	ENST00000287020.5	-	2	540	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	147					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562																																																0													18.0	23.0	22.0					8																	97157718		1726	3460	5186	SO:0001583	missense	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.441G>C	8.37:g.97157718C>G	ENSP00000287020:p.Lys147Asn		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669731	0.47677	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.65916	-0.18	4.82	4.82	0.62117	Transforming growth factor-beta, N-terminal (1);	0.063724	0.64402	D	0.000009	T	0.64011	0.2560	M	0.64404	1.975	0.54753	D	0.999987	P	0.38250	0.624	B	0.39465	0.3	T	0.68861	-0.5297	10	0.54805	T	0.06	.	17.8701	0.88808	0.0:1.0:0.0:0.0	.	147	Q6KF10	GDF6_HUMAN	N	147	ENSP00000287020:K147N	ENSP00000287020:K147N	K	-	3	2	GDF6	97226894	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.010000	0.40913	2.355000	0.79922	0.557000	0.71058	AAG		0.562	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		15	34	15	34
PGM5	5239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	rs201672908		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512																																																0													98.0	89.0	92.0					9																	71098810		2203	4300	6503	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1325C>T	9.37:g.71098810C>T	ENSP00000379678:p.Thr442Met		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423039	0.43020	.	.	ENSG00000154330	ENST00000396396	T	0.42900	0.96	5.75	4.76	0.60689	.	0.262571	0.42548	D	0.000684	T	0.29850	0.0746	L	0.36672	1.1	0.32093	N	0.591581	B	0.33238	0.403	B	0.22880	0.042	T	0.43925	-0.9361	10	0.51188	T	0.08	.	11.6857	0.51485	0.0:0.8843:0.0:0.1157	.	442	Q15124	PGM5_HUMAN	M	442	ENSP00000379678:T442M	ENSP00000379678:T442M	T	+	2	0	PGM5	70288630	0.994000	0.37717	0.831000	0.32960	0.967000	0.64934	3.179000	0.50887	2.716000	0.92895	0.655000	0.94253	ACG		0.512	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		11	47	11	47
OR1L8	138881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	125330525	125330525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	ENST00000304865.2	-	1	313	c.232G>A	c.(232-234)Gtt>Att	p.V78I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGGGACAACGCTTGTTGTA	0.453																																																0													80.0	84.0	83.0					9																	125330525		2203	4300	6503	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.232G>A	9.37:g.125330525C>T	ENSP00000306607:p.Val78Ile		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	5.787	0.329556	0.10956	.	.	ENSG00000171496	ENST00000304865	T	0.01406	4.93	4.39	-7.5	0.01351	GPCR, rhodopsin-like superfamily (1);	0.695876	0.12208	N	0.489564	T	0.00468	0.0015	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46789	-0.9166	10	0.30854	T	0.27	-6.515	4.9636	0.14080	0.2166:0.3493:0.0:0.434	.	78	Q8NGR8	OR1L8_HUMAN	I	78	ENSP00000306607:V78I	ENSP00000306607:V78I	V	-	1	0	OR1L8	124370346	0.000000	0.05858	0.000000	0.03702	0.848000	0.48234	-1.722000	0.01868	-0.782000	0.04541	0.449000	0.29647	GTT		0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			23	46	23	46
MED12	9968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70351408	70351408	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	ENST00000374080.3	+	29	4088	c.4056C>A	c.(4054-4056)gaC>gaA	p.D1352E	MED12_ENST00000374102.1_Missense_Mutation_p.D1352E|MED12_ENST00000333646.6_Missense_Mutation_p.D1352E			Q93074	MED12_HUMAN	mediator complex subunit 12	1352					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													123.0	118.0	120.0					X																	70351408		2082	4195	6277	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4056C>A	X.37:g.70351408C>A	ENSP00000363193:p.Asp1352Glu		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	9.656	1.142745	0.21205	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.83591	-1.74;-1.74;-1.74;-1.74;1.24	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	L	0.33339	1.005	0.54753	D	0.999981	B;P;B;B	0.37141	0.165;0.584;0.144;0.188	B;B;B;B	0.31547	0.075;0.113;0.132;0.062	T	0.63193	-0.6692	10	0.11794	T	0.64	-17.8868	8.3157	0.32100	0.0:0.8007:0.0:0.1993	.	1352;1199;1352;1352	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	E	1352;1352;1352;1352;1320;97	ENSP00000333125:D1352E;ENSP00000363215:D1352E;ENSP00000363193:D1352E;ENSP00000414203:D1320E;ENSP00000408388:D97E	ENSP00000333125:D1352E	D	+	3	2	MED12	70268133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.937000	0.40193	2.065000	0.61736	0.600000	0.82982	GAC		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	54	7	54
IL1RAPL2	26280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	105011344	105011344	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	ENST00000372582.1	+	11	2507	c.1751T>G	c.(1750-1752)aTa>aGa	p.I584R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.I584R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	584					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCAGCCTATACCCTCTATT	0.463																																																0													88.0	78.0	82.0					X																	105011344		2203	4299	6502	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1751T>G	X.37:g.105011344T>G	ENSP00000361663:p.Ile584Arg		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.877473	0.33162	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.05382	3.75;3.75;3.45	5.78	3.34	0.38264	.	0.241593	0.36002	N	0.002853	T	0.05090	0.0136	N	0.22421	0.69	0.42596	D	0.993266	B	0.25169	0.119	B	0.25759	0.063	T	0.37244	-0.9714	10	0.62326	D	0.03	.	9.1713	0.37083	0.0:0.1525:0.0:0.8475	.	584	Q9NP60	IRPL2_HUMAN	R	584;584;189	ENSP00000361663:I584R;ENSP00000344976:I584R;ENSP00000445576:I189R	ENSP00000344976:I584R	I	+	2	0	IL1RAPL2	104898000	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.682000	0.61671	0.806000	0.34183	-0.313000	0.08912	ATA		0.463	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		35	83	35	83
ARHGEF6	9459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	135862897	135862897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	ENST00000250617.6	-	1	1350	c.145A>T	c.(145-147)Atg>Ttg	p.M49L		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	49	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418																																																0													173.0	163.0	167.0					X																	135862897		2203	4300	6503	SO:0001583	missense	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.145A>T	X.37:g.135862897T>A	ENSP00000250617:p.Met49Leu		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	0.726	-0.781641	0.02929	.	.	ENSG00000129675	ENST00000250617	D	0.94793	-3.52	5.91	-4.08	0.03963	Calponin homology domain (5);	0.650588	0.15819	N	0.243073	T	0.74137	0.3677	N	0.00395	-1.55	0.36790	D	0.884794	B	0.02656	0.0	B	0.01281	0.0	T	0.67593	-0.5631	10	0.02654	T	1	.	12.9879	0.58602	0.0:0.2875:0.5995:0.113	.	49	Q15052	ARHG6_HUMAN	L	49	ENSP00000250617:M49L	ENSP00000250617:M49L	M	-	1	0	ARHGEF6	135690563	0.002000	0.14202	0.749000	0.31150	0.739000	0.42172	-0.136000	0.10405	-0.303000	0.08856	0.356000	0.21956	ATG		0.418	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		73	178	73	178
PIEZO2	63895	broad.mit.edu;ucsc.edu	37	18	10691245	10691245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:10691245C>T	ENST00000503781.3	-	44	6987	c.6988G>A	c.(6988-6990)Gtc>Atc	p.V2330I	PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000302079.6_Missense_Mutation_p.V2330I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2330					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.V2330I(1)|p.V185I(1)									AAGAGGTTGACGTAATTGTAG	0.488																																																2	Substitution - Missense(2)	prostate(2)											140.0	123.0	128.0					18																	10691245		2203	4300	6503	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6988G>A	18.37:g.10691245C>T	ENSP00000421377:p.Val2330Ile		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	C	11.75	1.731604	0.30684	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.72942	-0.7;-0.7;-0.68	5.62	4.74	0.60224	.	0.087086	0.47852	D	0.000208	T	0.44808	0.1311	N	0.02721	-0.515	0.41431	D	0.987869	B	0.24533	0.105	B	0.21151	0.033	T	0.43621	-0.9380	10	0.15952	T	0.53	.	14.3048	0.66377	0.0:0.9287:0.0:0.0713	.	287	D6RFZ0	.	I	287;2330;287;185	ENSP00000303316:V2330I;ENSP00000443129:V287I;ENSP00000285141:V185I	ENSP00000285141:V185I	V	-	1	0	FAM38B	10681245	0.999000	0.42202	0.994000	0.49952	0.983000	0.72400	4.012000	0.57131	2.804000	0.96469	0.655000	0.94253	GTC		0.488	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		38	96	38	96
OR2B3	442184	broad.mit.edu;ucsc.edu	37	6	29054524	29054524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	ENST00000377173.2	-	1	566	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGACCACAGCGTGGCATGTTA	0.488																																																0													56.0	50.0	52.0					6																	29054524		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.502C>T	6.37:g.29054524G>A	ENSP00000366378:p.Arg168Cys		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303965	0.60305	.	.	ENSG00000204703	ENST00000377173	T	0.00099	8.73	3.83	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.192905	0.25264	U	0.031939	T	0.00073	0.0002	L	0.29908	0.895	0.27075	N	0.963221	D	0.64830	0.994	P	0.59761	0.863	T	0.07028	-1.0794	10	0.66056	D	0.02	.	1.6807	0.02831	0.1827:0.1716:0.4702:0.1756	.	168	O76000	OR2B3_HUMAN	C	168	ENSP00000366378:R168C	ENSP00000366378:R168C	R	-	1	0	OR2B3	29162503	0.000000	0.05858	0.983000	0.44433	0.984000	0.73092	-0.694000	0.05115	0.547000	0.28938	0.530000	0.56133	CGC		0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			14	32	14	32
SGIP1	84251	broad.mit.edu;ucsc.edu	37	1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	AL139147.1_ENST00000502413.2_5'Flank|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403																																																0													130.0	129.0	129.0					1																	67142747		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.707C>T	1.37:g.67142747C>T	ENSP00000360076:p.Ser236Leu		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845032	0.91197	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.09642	0.0237	L	0.53249	1.67	0.42777	D	0.993851	D;P;P;D	0.76494	0.999;0.688;0.553;0.994	D;B;B;D	0.71656	0.974;0.08;0.08;0.921	T	0.11591	-1.0581	10	0.45353	T	0.12	-8.572	19.0678	0.93119	0.0:1.0:0.0:0.0	.	239;3;193;236	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	L	240;204;228;193;239;239;203;236	ENSP00000237247:S240L;ENSP00000360078:S204L;ENSP00000410439:S228L;ENSP00000360074:S193L;ENSP00000360075:S203L;ENSP00000360076:S236L	ENSP00000237247:S240L	S	+	2	0	SGIP1	66915335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.135000	0.71696	2.506000	0.84524	0.655000	0.94253	TCG		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		28	83	28	83
ZNF429	353088	broad.mit.edu;ucsc.edu	37	19	21720782	21720782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:21720782C>A	ENST00000358491.4	+	4	2135	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGAAAATTCATAGGATggg	0.458																																																0													50.0	53.0	52.0					19																	21720782		1982	4179	6161	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1927C>A	19.37:g.21720782C>A	ENSP00000351280:p.His643Asn		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.171	1.021076	0.19433	.	.	ENSG00000197013	ENST00000358491	T	0.39056	1.1	0.439	0.439	0.16567	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39172	0.1068	N	0.08118	0	0.28232	N	0.926078	D	0.58620	0.983	D	0.69824	0.966	T	0.33854	-0.9852	9	0.87932	D	0	.	8.3536	0.32316	0.0:1.0:0.0:0.0	.	643	Q86V71	ZN429_HUMAN	N	643	ENSP00000351280:H643N	ENSP00000351280:H643N	H	+	1	0	ZNF429	21512622	0.992000	0.36948	0.011000	0.14972	0.014000	0.08584	4.030000	0.57260	0.501000	0.28013	0.184000	0.17185	CAT		0.458	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	54	7	54
PSG9	5678	broad.mit.edu;ucsc.edu	37	19	43766011	43766011	+	Splice_Site	SNP	C	C	T	rs182343176	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	ENST00000270077.3	-	3	806		c.e3+1		PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000244293.7_Splice_Site|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522																																																0													133.0	132.0	133.0					19																	43766011		2203	4296	6499	SO:0001630	splice_region_variant	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.709+1G>A	19.37:g.43766011C>T			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	c	9.312	1.055946	0.19907	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	.	.	.	2.12	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8962	0.29708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG9	48457851	0.186000	0.23225	0.034000	0.17996	0.081000	0.17604	0.805000	0.27112	0.860000	0.35481	0.194000	0.17425	.		0.522	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Intron	91	166	91	166
COBL	23242	broad.mit.edu;ucsc.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	ENST00000265136.7	-	2	234	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395542.2_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)											0													20.0	22.0	21.0					7																	51287614		2174	4248	6422	SO:0001819	synonymous_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.69A>C	7.37:g.51287614T>G			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1																																																																																				0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	40	5	40
MXRA5	25878	broad.mit.edu;ucsc.edu	37	X	3229518	3229518	+	Silent	SNP	C	C	T	rs182612819		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	ENST00000217939.6	-	7	6880	c.6726G>A	c.(6724-6726)ccG>ccA	p.P2242P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2242	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517													C|||	1	0.000264901	0.0	0.0	3775	,	,		14183	0.0		0.001	False		,,,				2504	0.0															0													90.0	84.0	86.0					X																	3229518		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6726G>A	X.37:g.3229518C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.517	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		32	112	32	112
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	ENST00000267163.4	+	4	622_623	c.484_485delTT	c.(484-486)ttcfs	p.F162fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	162					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.F162fs*13(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTTTGCACTCTTCAGCAAATTG	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(6)|Complex - frameshift(1)	bone(11)|breast(6)|eye(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.484_485delTT	13.37:g.48919319_48919320delTT	ENSP00000267163:p.Phe162fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.287	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			39	48	39	48
