#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
KCNH5	27133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	63269245	63269245	+	Missense_Mutation	SNP	G	G	A	rs543742412	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	ENST00000322893.7	-	9	1892	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_ENST00000394968.1_Missense_Mutation_p.R484W|KCNH5_ENST00000420622.2_Missense_Mutation_p.R542W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAACCTTCCGGTTTAGATGA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		21565	0.002		0.0	False		,,,				2504	0.0															0													53.0	55.0	54.0					14																	63269245		2203	4300	6503	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1624C>T	14.37:g.63269245G>A	ENSP00000321427:p.Arg542Trp		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675978	0.67928	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.15	4.24	0.50183	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.058112	0.64402	D	0.000002	D	0.98223	0.9412	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.98917	1.0782	10	0.87932	D	0	.	12.9337	0.58301	0.0:0.0:0.7047:0.2953	.	484;542;542	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	W	542;542;484	ENSP00000321427:R542W;ENSP00000395439:R542W;ENSP00000378419:R484W	ENSP00000321427:R542W	R	-	1	2	KCNH5	62338998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.802000	0.27069	1.274000	0.44362	0.563000	0.77884	CGG		0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		7	64	7	64
CRLF3	51379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29112983	29112983	+	Silent	SNP	T	T	C			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	ENST00000324238.6	-	7	1150	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Silent_p.G226G	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	342					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363																																					Pancreas(30;346 881 29244 33464 41299)											0													195.0	173.0	181.0					17																	29112983		2203	4300	6503	SO:0001819	synonymous_variant	51379			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1026A>G	17.37:g.29112983T>C			A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Silent	SNP	ENST00000324238.6	37	CCDS32607.1																																																																																				0.363	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			14	128	14	128
BAX	581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	49459501	49459501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	ENST00000345358.7	+	4	332	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_ENST00000293288.8_Nonsense_Mutation_p.R94*|BAX_ENST00000415969.2_Nonsense_Mutation_p.R94*|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000539787.1_Nonsense_Mutation_p.R94*|BAX_ENST00000354470.3_Nonsense_Mutation_p.R45*	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R94*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587																																																1	Substitution - Nonsense(1)	lung(1)											74.0	80.0	78.0					19																	49459501		2203	4300	6503	SO:0001587	stop_gained	581				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.280C>T	19.37:g.49459501C>T	ENSP00000263262:p.Arg94*		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Nonsense_Mutation	SNP	ENST00000345358.7	37	CCDS12742.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874716	0.97055	.	.	ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	.	.	.	4.05	2.98	0.34508	.	0.138090	0.47093	D	0.000248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8395	8.985	0.35988	0.2202:0.7798:0.0:0.0	.	.	.	.	X	94;94;94;45;94	.	ENSP00000293288:R94X	R	+	1	2	BAX	54151313	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.017000	0.40981	1.228000	0.43614	0.563000	0.77884	CGA		0.587	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		11	86	11	86
CELSR2	1952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	109805553	109805553	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	ENST00000271332.3	+	7	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1557	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCACATAGACATGGCTGAC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)											0													45.0	43.0	44.0					1																	109805553		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4670A>G	1.37:g.109805553A>G	ENSP00000271332:p.Asp1557Gly		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403245	0.83230	.	.	ENSG00000143126	ENST00000271332	D	0.82255	-1.59	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.90177	0.6930	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91935	0.5558	9	0.72032	D	0.01	.	14.6905	0.69083	1.0:0.0:0.0:0.0	.	1557	Q9HCU4	CELR2_HUMAN	G	1557	ENSP00000271332:D1557G	ENSP00000271332:D1557G	D	+	2	0	CELSR2	109607076	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.645000	0.91049	2.124000	0.65301	0.459000	0.35465	GAC		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	34	5	34
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	80808942	80808942	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	ENST00000402739.4	+	13	2010	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R669W|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R669W|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R348W|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R703W	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493																																																1	Substitution - Missense(1)	large_intestine(1)											84.0	88.0	86.0					2																	80808942		2099	4207	6306	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2005C>T	2.37:g.80808942C>T	ENSP00000384638:p.Arg669Trp		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173540	0.78452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.7	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.87097	2.86	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.76071	0.984;0.987;0.963;0.978	T	0.73770	-0.3878	9	.	.	.	.	14.5346	0.67950	0.6434:0.3566:0.0:0.0	.	301;669;669;669	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	W	669;669;703;669;669;669;348	ENSP00000418191:R669W;ENSP00000419295:R669W;ENSP00000355398:R703W;ENSP00000384638:R669W;ENSP00000444675:R669W;ENSP00000441705:R669W;ENSP00000341500:R348W	.	R	+	1	2	CTNNA2	80662453	0.492000	0.26027	1.000000	0.80357	0.988000	0.76386	1.171000	0.31896	0.680000	0.31366	0.650000	0.86243	CGG		0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		21	31	21	31
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	55	25	55
ARL13B	200894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	93714764	93714764	+	Missense_Mutation	SNP	G	G	A	rs139780924	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	ENST00000394222.3	+	2	381	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T|ARL13B_ENST00000486562.1_3'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	36					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16302	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA,,,THR/ALA	3,4403	6.2+/-15.9	0,3,2200	64.0	70.0	68.0		106,,,106	4.8	1.0	3	dbSNP_134	68	0,8600		0,0,4300	yes	missense,intron,intron,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	58,,,58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,,,possibly-damaging	36/429,,,36/429	93714764	3,13003	2203	4300	6503	SO:0001583	missense	200894			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.106G>A	3.37:g.93714764G>A	ENSP00000377769:p.Ala36Thr		D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	CCDS2925.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.1	4.103257	0.76983	6.81E-4	0.0	ENSG00000169379	ENST00000478400;ENST00000394222;ENST00000471138	T;T	0.43688	0.94;0.94	5.64	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	N	0.00219	-1.825	0.80722	D	1	B	0.31730	0.337	B	0.35312	0.2	T	0.38394	-0.9663	10	0.44086	T	0.13	-5.5594	14.9687	0.71217	0.0699:0.0:0.9301:0.0	.	36	Q3SXY8	AR13B_HUMAN	T	11;36;36	ENSP00000377769:A36T;ENSP00000420780:A36T	ENSP00000335400:A36T	A	+	1	0	ARL13B	95197454	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	6.751000	0.74893	2.660000	0.90430	0.655000	0.94253	GCA		0.299	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		15	29	15	29
TRIO	7204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	14406753	14406753	+	Missense_Mutation	SNP	C	C	T	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	ENST00000344204.4	+	33	4955	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_ENST00000537187.1_Missense_Mutation_p.T1644M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1644			T -> M (in dbSNP:rs55687522). {ECO:0000269|PubMed:17344846}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1644M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTCACGGACGTCTCAGAAC	0.567																																																1	Substitution - Missense(1)	endometrium(1)						C	MET/THR	0,4406		0,0,2203	111.0	98.0	102.0		4931	5.5	1.0	5	dbSNP_129	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIO	NM_007118.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1644/3098	14406753	1,13005	2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4931C>T	5.37:g.14406753C>T	ENSP00000339299:p.Thr1644Met		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952129	0.73787	0.0	1.16E-4	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.23147	1.92;1.92	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.80764	0.923;0.994	T	0.31696	-0.9934	10	0.39692	T	0.17	.	19.3513	0.94387	0.0:1.0:0.0:0.0	rs55687522	1644;1644	O75962-5;O75962	.;TRIO_HUMAN	M	1644;1644;1331	ENSP00000339299:T1644M;ENSP00000446348:T1644M	ENSP00000339299:T1644M	T	+	2	0	TRIO	14459753	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.785000	0.85724	2.571000	0.86741	0.650000	0.86243	ACG		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		33	75	33	75
RREB1	6239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	7240706	7240706	+	Intron	SNP	T	T	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.F1282I|RREB1_ENST00000334984.6_Missense_Mutation_p.F1282I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGCGATGCCTTCTTTTCTAC	0.423																																																0													123.0	119.0	120.0					6																	7240706		2203	4300	6503	SO:0001627	intron_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5951T>A	6.37:g.7240706T>A			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262869	0.59431	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.18016	2.24;2.24	5.17	5.17	0.71159	.	.	.	.	.	T	0.09247	0.0228	L	0.53249	1.67	0.35993	D	0.836838	B;B	0.24426	0.103;0.103	B;B	0.26202	0.042;0.067	T	0.05007	-1.0912	9	0.44086	T	0.13	-22.602	10.9321	0.47224	0.1403:0.0:0.0:0.8597	.	1282;1282	Q92766-3;Q92766-2	.;.	I	1282	ENSP00000369270:F1282I;ENSP00000335574:F1282I	ENSP00000335574:F1282I	F	+	1	0	RREB1	7185705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.364000	0.52328	2.167000	0.68274	0.528000	0.53228	TTC		0.423	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			37	106	37	106
MICAL1	64780	hgsc.bcm.edu;ucsc.edu	37	6	109773534	109773534	+	Silent	SNP	G	G	A	rs33997889	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:109773534G>A	ENST00000358807.3	-	6	1058	c.747C>T	c.(745-747)acC>acT	p.T249T	MICAL1_ENST00000358577.3_Silent_p.T249T|MICAL1_ENST00000483856.1_5'UTR|MICAL1_ENST00000368952.4_Silent_p.T268T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	249	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.T249T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTCCTCCACGGTGCGTCCAT	0.542													G|||	36	0.0071885	0.0234	0.0014	5008	,	,		19766	0.004		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	lung(1)						G	,	84,4322	71.4+/-109.4	2,80,2121	126.0	122.0	123.0		747,747	-11.3	0.1	6	dbSNP_126	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MICAL1	NM_001159291.1,NM_022765.3	,	2,82,6419	AA,AG,GG		0.0233,1.9065,0.6612	,	249/982,249/1068	109773534	86,12920	2203	4300	6503	SO:0001819	synonymous_variant	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.747C>T	6.37:g.109773534G>A			B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	CCDS5076.1																																																																																				0.542	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		11	124	11	124
CADPS2	93664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	122130306	122130306	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	ENST00000449022.2	-	11	1700	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_ENST00000412584.2_Missense_Mutation_p.A561S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A561S|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000334010.7_Missense_Mutation_p.A561S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTTAACAGCATTAAAGAAC	0.378																																																0													144.0	137.0	139.0					7																	122130306		1865	4104	5969	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1681G>T	7.37:g.122130306C>A	ENSP00000398481:p.Ala561Ser		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.412639|4.412639	0.83340|0.83340	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.74632|.	-0.86;-0.86;-0.86;-0.86|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78149|0.78149	0.4238|0.4238	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;B;P|.	0.47545|.	0.793;0.122;0.897|.	D;B;D|.	0.78314|.	0.937;0.331;0.991|.	T|T	0.78788|0.78788	-0.2067|-0.2067	10|5	0.72032|.	D|.	0.01|.	-14.09|-14.09	18.8508|18.8508	0.92227|0.92227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	561;561;561|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	S|F	561;561;561;528;561;561|209	ENSP00000325581:A561S;ENSP00000333940:A561S;ENSP00000400401:A561S;ENSP00000398481:A561S|.	ENSP00000325581:A561S|.	A|C	-|-	1|2	0|0	CADPS2|CADPS2	121917542|121917542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.882000|4.882000	0.63121|0.63121	2.446000|2.446000	0.82766|0.82766	0.491000|0.491000	0.48974|0.48974	GCT|TGC		0.378	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		19	186	19	186
DOCK8	81704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	289509	289509	+	Splice_Site	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	ENST00000453981.1	+	4	444		c.e4-1		DOCK8_ENST00000432829.2_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACCTCATTAGGGTTGAACTG	0.388																																																0													198.0	194.0	195.0					9																	289509		2203	4300	6503	SO:0001630	splice_region_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.333-1G>A	9.37:g.289509G>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321064	0.81580	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4403	0.90664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	279509	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	8.499000	0.90494	2.861000	0.98227	0.655000	0.94253	.		0.388	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron	5	38	5	38
SH3KBP1	30011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	19764444	19764444	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	ENST00000397821.3	-	3	568	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N93I|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N56I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	93					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTCTCTTATTGGTTCTTAA	0.423																																																0													119.0	109.0	112.0					X																	19764444		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.278A>T	X.37:g.19764444T>A	ENSP00000380921:p.Asn93Ile		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339559	0.41398	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.50001	1.42;1.49;1.28;1.06;0.76	5.84	4.69	0.59074	.	1.003210	0.08025	N	0.992588	T	0.39627	0.1085	L	0.54323	1.7	0.80722	D	1	B;P	0.46512	0.201;0.879	B;B	0.37198	0.1;0.243	T	0.47275	-0.9130	10	0.49607	T	0.09	-16.2752	4.7177	0.12903	0.0:0.0961:0.1914:0.7125	.	93;56	Q96B97;Q5JPT5	SH3K1_HUMAN;.	I	34;93;56;29;93;40	ENSP00000380921:N93I;ENSP00000369020:N56I;ENSP00000369049:N29I;ENSP00000369019:N93I;ENSP00000388766:N40I	ENSP00000369019:N93I	N	-	2	0	SH3KBP1	19674365	0.996000	0.38824	0.979000	0.43373	0.993000	0.82548	1.489000	0.35562	1.957000	0.56846	0.486000	0.48141	AAT		0.423	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		60	79	60	79
WDR44	54521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H|WDR44_ENST00000371822.5_Missense_Mutation_p.R210H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522																																																0													116.0	109.0	111.0					X																	117527112		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.704G>A	X.37:g.117527112G>A	ENSP00000254029:p.Arg235His		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371043	0.82573	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.78364	-1.17;-0.55;-0.42	5.51	5.51	0.81932	.	0.057212	0.64402	D	0.000001	D	0.83308	0.5226	L	0.34521	1.04	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.988;0.964	D	0.84826	0.0799	10	0.59425	D	0.04	-13.3787	18.4598	0.90735	0.0:0.0:1.0:0.0	.	210;235;235	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	H	210;235;235	ENSP00000360887:R210H;ENSP00000254029:R235H;ENSP00000360890:R235H	ENSP00000254029:R235H	R	+	2	0	WDR44	117411140	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	9.414000	0.97362	2.301000	0.77427	0.600000	0.82982	CGC		0.522	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		98	202	98	202
PRDM10	56980	broad.mit.edu;ucsc.edu	37	11	129817095	129817095	+	Silent	SNP	C	C	T			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	ENST00000360871.3	-	5	696	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000528746.1_Silent_p.T129T|PRDM10_ENST00000423662.2_Silent_p.T69T|PRDM10_ENST00000358825.5_Silent_p.T155T|PRDM10_ENST00000526082.1_Silent_p.T69T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.T155T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											292.0	165.0	208.0					11																	129817095		2201	4297	6498	SO:0001819	synonymous_variant	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.465G>A	11.37:g.129817095C>T			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		26	68	26	68
