#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	42	0	0	0	1	0	5	42				
SLC39A1	27173	broad.mit.edu	37	1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	ENST00000368623.3	-	3	1376	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	206					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(616-618)cGg>cAg		solute carrier family 39 (zinc transporter), member 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	36.0	36.0		617	4.8	1.0	1	dbSNP_134	36	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC39A1	NM_014437.3	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging	206/325	153932932	6,13000	2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932932C>T	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.617G>A	1.37:g.153932932C>T	ENSP00000357612:p.Arg206Gln					SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q	p.R206Q			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	3	1376	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		206					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.617G>A	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060357	0.55432	2.27E-4	5.81E-4	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;2.23	4.83	4.83	0.62350	.	0.384214	0.23760	N	0.044827	T	0.21962	0.0529	L	0.31476	0.935	0.40521	D	0.980837	B;B	0.20988	0.05;0.033	B;B	0.26416	0.009;0.069	T	0.05084	-1.0907	10	0.15952	T	0.53	-20.7952	15.4884	0.75584	0.0:1.0:0.0:0.0	.	104;206	B4DDY7;Q9NY26	.;S39A1_HUMAN	Q	206;206;206;206;104;195;206;206;206	ENSP00000348535:R206Q;ENSP00000357612:R206Q;ENSP00000357610:R206Q;ENSP00000309710:R206Q;ENSP00000443632:R104Q;ENSP00000392950:R206Q;ENSP00000392229:R206Q;ENSP00000407717:R206Q	ENSP00000309710:R206Q	R	-	2	0	SLC39A1	152199556	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	1.379000	0.34340	2.510000	0.84645	0.455000	0.32223	CGG		0.662	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		4	45	0	0	0	1	0	4	45				
NUP155	9631	broad.mit.edu	37	5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	ENST00000231498.3	-	24	2878	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.E833G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	892					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(2674-2676)gAa>gGa		nucleoporin 155kDa							117.0	109.0	112.0					5																	37309323		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37309323T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2675A>G	5.37:g.37309323T>C	ENSP00000231498:p.Glu892Gly					NUP155_ENST00000381843.2_Missense_Mutation_p.E833G|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR	p.E892G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		24	2878	-	all_lung(31;0.000137)		892					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2675A>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099533	0.76983	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.80653	-1.4;-1.38;-1.4	5.71	5.71	0.89125	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.092070	0.85682	D	0.000000	D	0.85331	0.5672	M	0.72353	2.195	0.52501	D	0.999957	P;B	0.37061	0.58;0.304	B;P	0.47705	0.353;0.555	D	0.84685	0.0719	10	0.41790	T	0.15	-3.7354	16.0044	0.80349	0.0:0.0:0.0:1.0	.	828;892	E9PF10;O75694	.;NU155_HUMAN	G	892;833;854;828	ENSP00000231498:E892G;ENSP00000371265:E833G;ENSP00000422019:E828G	ENSP00000231498:E892G	E	-	2	0	NUP155	37345080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.584000	0.82572	2.191000	0.70037	0.528000	0.53228	GAA		0.343	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		9	23	0	0	0	1	0	9	23				
MAP3K4	4216	broad.mit.edu	37	6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	ENST00000392142.4	+	3	1739	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	531					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1591-1593)Gac>Cac		mitogen-activated protein kinase kinase kinase 4							75.0	79.0	78.0					6																	161470895		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470895G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1591G>C	6.37:g.161470895G>C	ENSP00000375986:p.Asp531His					MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H	p.D531H	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1739	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	531					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1591G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232378	0.79688	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.13469	-1.0508	10	0.72032	D	0.01	-36.7078	19.5993	0.95554	0.0:0.0:1.0:0.0	.	531;531	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	H	531	ENSP00000355886:D531H;ENSP00000375986:D531H;ENSP00000355887:D531H;ENSP00000297332:D531H	ENSP00000297332:D531H	D	+	1	0	MAP3K4	161390885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.441000	0.97557	2.628000	0.89032	0.655000	0.94253	GAC		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			13	94	0	0	0	1	0	13	94				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	37	0	0	0	1	0	4	37				
FLRT3	23767	broad.mit.edu	37	20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	ENST00000378053.3	-	2	2138	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1882-1884)Agt>Ggt		fibronectin leucine rich transmembrane protein 3							274.0	235.0	248.0					20																	14306271		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306271T>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1882A>G	20.37:g.14306271T>C	ENSP00000367292:p.Ser628Gly					MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G|MACROD2_ENST00000310348.4_Intron	p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2138	-		Colorectal(1;0.0464)	628					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1882A>G	CCDS13121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.91|10.91	1.483591|1.483591	0.26598|0.26598	.|.	.|.	ENSG00000125848|ENSG00000125848	ENST00000541882|ENST00000378053;ENST00000341420	.|T;T	.|0.59638	.|0.25;0.25	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.126959	.|0.64402	.|D	.|0.000010	T|T	0.46210|0.46210	0.1381|0.1381	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.31435	.|0.323	.|B	.|0.27380	.|0.079	T|T	0.46898|0.46898	-0.9158|-0.9158	6|10	0.72032|0.62326	D|D	0.01|0.03	-9.3565|-9.3565	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|628	.|Q9NZU0	.|FLRT3_HUMAN	R|G	627|628	.|ENSP00000367292:S628G;ENSP00000339912:S628G	ENSP00000438619:Q627R|ENSP00000339912:S628G	Q|S	-|-	2|1	0|0	FLRT3|FLRT3	14254271|14254271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.289000|6.289000	0.72696|0.72696	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		18	135	0	0	0	1	0	18	135				
GK2	2712	broad.mit.edu	37	4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	ENST00000358842.3	-	1	736	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTAGGCCATAGATCTCAGA	0.423																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(718-720)tAt>tGt		glycerol kinase 2							68.0	72.0	71.0					4																	80328636		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328636T>C	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.719A>G	4.37:g.80328636T>C	ENSP00000351706:p.Tyr240Cys						p.Y240C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	736	-			240					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.719A>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804196	0.31869	.	.	ENSG00000196475	ENST00000358842	T	0.48836	0.8	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80513	-0.1349	10	0.87932	D	0	-6.2744	11.3785	0.49743	0.0:0.0:0.0:1.0	.	240	Q14410	GLPK2_HUMAN	C	240	ENSP00000351706:Y240C	ENSP00000351706:Y240C	Y	-	2	0	GK2	80547660	1.000000	0.71417	0.996000	0.52242	0.132000	0.20833	4.026000	0.57232	2.020000	0.59435	0.477000	0.44152	TAT		0.423	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		37	98	0	0	0	1	0	37	98				
DLK2	65989	broad.mit.edu	37	6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	ENST00000357338.3	-	6	1355	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_ENST00000372488.3_Missense_Mutation_p.R219C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000414245.1_Missense_Mutation_p.R213C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCATGGGCGGCTGGCACAG	0.622																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(655-657)Cgc>Tgc		delta-like 2 homolog (Drosophila)							60.0	62.0	61.0					6																	43418774		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418774G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.655C>T	6.37:g.43418774G>A	ENSP00000349893:p.Arg219Cys					DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000372488.3_Missense_Mutation_p.R219C	p.R219C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1355	-	all_lung(25;0.00536)		219			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.655C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984584	0.74474	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.94	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.328631	0.33534	N	0.004806	D	0.83672	0.5305	L	0.56199	1.76	0.80722	D	1	D	0.58970	0.984	P	0.45232	0.474	D	0.85970	0.1476	10	0.59425	D	0.04	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	219	Q6UY11	DLK2_HUMAN	C	213;219;219;213	ENSP00000361563:R213C;ENSP00000361566:R219C;ENSP00000349893:R219C;ENSP00000398906:R213C	ENSP00000349893:R219C	R	-	1	0	DLK2	43526752	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	6.526000	0.73799	2.454000	0.82982	0.462000	0.41574	CGC		0.622	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		5	67	0	0	0	1	0	5	67				
KERA	11081	broad.mit.edu	37	12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	ENST00000266719.3	-	2	762	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	172					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(514-516)gAc>gGc		keratocan							118.0	112.0	114.0					12																	91449544		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449544T>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.515A>G	12.37:g.91449544T>C	ENSP00000266719:p.Asp172Gly						p.D172G	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	762	-			172						Missense_Mutation	SNP	ENST00000266719.3	37	c.515A>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241060	0.79912	.	.	ENSG00000139330	ENST00000266719	T	0.61510	0.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73506	-0.3961	10	0.35671	T	0.21	-29.9198	16.6438	0.85155	0.0:0.0:0.0:1.0	.	172	O60938	KERA_HUMAN	G	172	ENSP00000266719:D172G	ENSP00000266719:D172G	D	-	2	0	KERA	89973675	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	GAC		0.413	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		49	149	0	0	0	1	0	49	149				
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACCTGTGCCGCCATGTCTAC	0.418																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1003-1005)gCg>gTg		fyn-related kinase							78.0	78.0	78.0					6																	116265543		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265543G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1004C>T	6.37:g.116265543G>A	ENSP00000476145:p.Ala335Val					FRK_ENST00000538210.1_Missense_Mutation_p.A193V	p.A335V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1450	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	335			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1004C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422237	0.62622	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.37235	1.21;1.21	5.6	5.6	0.85130	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000031	T	0.56615	0.1997	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61312	-0.7088	10	0.87932	D	0	.	19.5995	0.95554	0.0:0.0:1.0:0.0	.	335	P42685	FRK_HUMAN	V	335;193	ENSP00000357615:A335V;ENSP00000443075:A193V	ENSP00000357615:A335V	A	-	2	0	FRK	116372236	1.000000	0.71417	0.947000	0.38551	0.055000	0.15305	6.530000	0.73816	2.610000	0.88304	0.591000	0.81541	GCG		0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		4	65	0	0	0	1	0	4	65				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	78	0	0	0	1	0	8	78				
CPEB2	132864	broad.mit.edu	37	4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	ENST00000507071.1	+	9	1339	c.1252A>T	c.(1252-1254)Ata>Tta	p.I418L	RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L|CPEB2_ENST00000538197.1_Missense_Mutation_p.I863L			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	418	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2587-2589)Ata>Tta		cytoplasmic polyadenylation element binding protein 2							93.0	95.0	94.0					4																	15060817		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060817A>T	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1252A>T	4.37:g.15060817A>T	ENSP00000424084:p.Ile418Leu					CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L	p.I863L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			10	2587	+			418					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2587A>T		.	.	.	.	.	.	.	.	.	.	A	29.5	5.010213	0.93346	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.67	5.67	0.87782	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.68728	2.09	0.80722	D	1	B;P;P;P;P;B	0.42827	0.045;0.549;0.686;0.791;0.761;0.071	P;D;D;D;D;P	0.81914	0.897;0.967;0.988;0.995;0.995;0.891	T	0.52726	-0.8537	10	0.87932	D	0	-9.9562	15.9034	0.79400	1.0:0.0:0.0:0.0	.	391;396;836;863;388;418	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	L	863;855;836;418;388;396;391;426;405;71	ENSP00000443985:I863L;ENSP00000437884:I855L;ENSP00000414270:I836L;ENSP00000424084:I418L;ENSP00000334058:I388L;ENSP00000371832:I396L;ENSP00000371838:I391L;ENSP00000259997:I426L;ENSP00000423890:I71L	ENSP00000259997:I426L	I	+	1	0	CPEB2	14669915	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.335000	0.96500	2.150000	0.67090	0.482000	0.46254	ATA		0.348	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		5	59	0	0	0	1	0	5	59				
HRNR	388697	broad.mit.edu	37	1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	ENST00000368801.2	-	3	2938	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	955					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTAGCTGGAGGAGTGACCT	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2863-2865)Tcc>Ccc		hornerin							271.0	265.0	267.0					1																	152191242		2203	4298	6501	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191242A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2863T>C	1.37:g.152191242A>G	ENSP00000357791:p.Ser955Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S955P	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2938	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		955					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2863T>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	5.690	0.311866	0.10789	.	.	ENSG00000197915	ENST00000368801	T	0.02032	4.49	3.39	-0.965	0.10323	.	.	.	.	.	T	0.01254	0.0041	L	0.46157	1.445	0.09310	N	1	D	0.58620	0.983	P	0.53401	0.725	T	0.45293	-0.9271	9	0.27785	T	0.31	.	4.5836	0.12271	0.4264:0.3859:0.0:0.1877	.	955	Q86YZ3	HORN_HUMAN	P	955	ENSP00000357791:S955P	ENSP00000357791:S955P	S	-	1	0	HRNR	150457866	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.094000	0.30951	-0.433000	0.07286	-0.666000	0.03841	TCC		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		91	275	0	0	0	1	0	91	275				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	70	0	0	0	1	0	16	70				
UGT2B28	54490	broad.mit.edu	37	4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	ENST00000335568.5	+	4	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCAATACTCGGCTGTATAAG	0.363																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1054-1056)cGg>cAg		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						105.0	138.0	126.0					4																	70155435		1488	2705	4193	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70155435G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1055G>A	4.37:g.70155435G>A	ENSP00000334276:p.Arg352Gln					UGT2B28_ENST00000511240.1_Intron	p.R352Q	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			4	1057	+			352					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1055G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.046	-1.266107	0.01433	.	.	ENSG00000135226	ENST00000335568	T	0.62364	0.03	1.85	-1.41	0.08941	.	0.332186	0.25997	U	0.026969	T	0.44644	0.1303	L	0.53249	1.67	0.09310	N	1	B	0.28713	0.22	B	0.19666	0.026	T	0.20371	-1.0277	10	0.35671	T	0.21	.	2.7266	0.05215	0.4915:0.0:0.288:0.2205	.	352	Q9BY64	UDB28_HUMAN	Q	352	ENSP00000334276:R352Q	ENSP00000334276:R352Q	R	+	2	0	UGT2B28	70190024	0.000000	0.05858	0.077000	0.20336	0.008000	0.06430	-0.935000	0.03950	-0.269000	0.09298	-1.207000	0.01640	CGG		0.363	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		30	36	0	0	0	1	0	30	36				
KIF6	221458	broad.mit.edu	37	6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1255-1257)cGt>cAt		kinesin family member 6							110.0	107.0	108.0					6																	39513390		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513390C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1256G>A	6.37:g.39513390C>T	ENSP00000287152:p.Arg419His					KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H	p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1350	-			419					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1256G>A	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326967|4.326967	0.81690|0.81690	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.73047|.	-0.69;-0.68;-0.53;-0.69;-0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.962;0.975;0.994|.	T|T	0.67273|0.67273	-0.5712|-0.5712	9|5	0.56958|.	D|.	0.05|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419;419;419;419|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	H|I	419;419;258;419;419|311	ENSP00000287152:R419H;ENSP00000362312:R419H;ENSP00000362309:R258H;ENSP00000362311:R419H;ENSP00000441435:R419H|.	ENSP00000287152:R419H|.	R|V	-|-	2|1	0|0	KIF6|KIF6	39621368|39621368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	4.095000|4.095000	0.57728|0.57728	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.358	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		27	65	0	0	0	1	0	27	65				
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	lincRNA	SNP	C	C	T	rs200984414		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318																																						ENST00000369381.2																			0																																																			0							g.chr1:142713407C>T																													1.37:g.142713407C>T														0	1198	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.318	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	32	0	0	0	1	0	6	32				
NETO1	81832	broad.mit.edu	37	18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	ENST00000327305.6	-	9	2080	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_ENST00000299430.2_Missense_Mutation_p.I474V|NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	475					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1423-1425)Atc>Gtc		neuropilin (NRP) and tolloid (TLL)-like 1							199.0	174.0	182.0					18																	70417415		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417415T>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1423A>G	18.37:g.70417415T>C	ENSP00000313088:p.Ile475Val					NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|NETO1_ENST00000299430.2_Missense_Mutation_p.I474V	p.I475V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2080	-		Esophageal squamous(42;0.129)	475					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1423A>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831029	0.32329	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.20881	2.05;2.04	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000010	T	0.33527	0.0866	L	0.43152	1.355	0.80722	D	1	P;B	0.46327	0.876;0.045	D;B	0.64595	0.927;0.008	T	0.04708	-1.0932	10	0.02654	T	1	-16.1049	16.0791	0.80989	0.0:0.0:0.0:1.0	.	474;475	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	V	475;474	ENSP00000313088:I475V;ENSP00000299430:I474V	ENSP00000299430:I474V	I	-	1	0	NETO1	68568395	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.463000	0.80869	2.200000	0.70718	0.377000	0.23210	ATC		0.507	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		13	45	0	0	0	1	0	13	45				
WISP2	8839	broad.mit.edu	37	20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	ENST00000372868.2	+	3	491	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	50	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697																																						ENST00000372868.2																			0				skin(1)	1						c.(148-150)Tgt>Ggt		WNT1 inducible signaling pathway protein 2							35.0	29.0	31.0					20																	43348625		2203	4298	6501	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43348625T>G	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.148T>G	20.37:g.43348625T>G	ENSP00000361959:p.Cys50Gly					RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA	p.C50G			O76076	WISP2_HUMAN			3	491	+		Myeloproliferative disorder(115;0.0122)	50			IGFBP N-terminal.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.148T>G	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382240	0.82792	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	D;D;D	0.81499	-1.5;-1.5;-1.5	5.41	5.41	0.78517	Insulin-like growth factor-binding protein, IGFBP (3);Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93167	0.6563	10	0.87932	D	0	-17.4627	15.5109	0.75782	0.0:0.0:0.0:1.0	.	50;50	Q6PEG3;O76076	.;WISP2_HUMAN	G	50	ENSP00000361959:C50G;ENSP00000361956:C50G;ENSP00000190983:C50G	ENSP00000190983:C50G	C	+	1	0	WISP2	42782039	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.840000	0.86819	2.057000	0.61298	0.524000	0.50904	TGT		0.697	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		5	15	0	0	0	1	0	5	15				
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	13	76	0	0	0	1	0	13	76				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	97	0	0	0	1	0	7	97				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	37	0	0	0	1	0	4	37				
RREB1	6239	broad.mit.edu	37	6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T	rs375275893		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	ENST00000349384.6	+	10	2992	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000379938.2_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	893					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)	p.A893V(1)		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)				AGTAGCTTTGCGGTGGACTTC	0.592																																						ENST00000379938.2																			1	Substitution - Missense(1)	p.A893V(1)	large_intestine(1)	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						c.(2677-2679)gCg>gTg		ras responsive element binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	59.0	58.0	59.0		2678,2678,2678,2678	5.0	0.0	6		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	893/1688,893/1743,893/1477,893/1688	7231010	1,13005	2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231010C>T	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.2678C>T	6.37:g.7231010C>T	ENSP00000305560:p.Ala893Val					RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V	p.A893V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3215	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	893					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2678C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038703	0.35989	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.85;2.88;2.76	4.98	4.98	0.66077	.	0.200924	0.33553	N	0.004788	T	0.04092	0.0114	L	0.44542	1.39	0.09310	N	0.999999	P;P;P	0.40931	0.579;0.669;0.733	B;B;B	0.31495	0.077;0.122;0.131	T	0.37267	-0.9713	10	0.23891	T	0.37	-5.7076	18.4639	0.90748	0.0:1.0:0.0:0.0	.	893;893;893	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	893	ENSP00000369265:A893V;ENSP00000369270:A893V;ENSP00000305560:A893V;ENSP00000335574:A893V	ENSP00000335574:A893V	A	+	2	0	RREB1	7176009	0.048000	0.20356	0.006000	0.13384	0.707000	0.40811	3.461000	0.53035	2.576000	0.86940	0.655000	0.94253	GCG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	63	0	0	0	1	0	5	63				
RAB11FIP1	80223	broad.mit.edu	37	8	37734856	37734856	+	Silent	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	ENST00000330843.4	-	2	597	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	195					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGGTGTCGTGCTAGGGATGA	0.448																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(583-585)agC>agT		RAB11 family interacting protein 1 (class I)							295.0	268.0	278.0					8																	37734856		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37734856G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.585C>T	8.37:g.37734856G>A						RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S	p.S195S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	597	-		Lung NSC(58;0.118)|all_lung(54;0.195)	195					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.585C>T	CCDS34882.1																																																																																				0.448	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		13	163	0	0	0	1	0	13	163				
FSCB	84075	broad.mit.edu	37	14	44975038	44975038	+	Silent	SNP	G	G	T	rs200714637		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	ENST00000340446.4	-	1	1444	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1153-1155)Cgg>Agg		fibrous sheath CABYR binding protein							83.0	95.0	91.0					14																	44975038		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975038G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1153C>A	14.37:g.44975038G>T							p.R385R	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1444	-			385			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1153C>A	CCDS9679.1																																																																																				0.532	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		12	137	1	0	0.00010058	1	0.000111513	12	137				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	25	0	0	0	1	0	3	25				
NLRP2	55655	broad.mit.edu	37	19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	ENST00000543010.1	+	6	1746	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	535					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V535I(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557																																						ENST00000543010.1																			1	Substitution - Missense(1)	p.V535I(1)	large_intestine(1)	large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1603-1605)Gta>Ata		NLR family, pyrin domain containing 2							91.0	83.0	86.0					19																	55494669		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494669G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1603G>A	19.37:g.55494669G>A	ENSP00000445135:p.Val535Ile					NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I	p.V535I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1746	+			535					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1603G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438555	0.12104	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75050	-0.88;-0.81;-0.82;-0.88;-0.82;-0.9;-0.81;-0.87	1.79	-0.529	0.11901	.	1.199260	0.06581	N	0.750327	T	0.59307	0.2184	L	0.45051	1.395	0.09310	N	1	P;P;P;P;P	0.50156	0.932;0.82;0.726;0.82;0.726	B;B;B;B;B	0.41894	0.252;0.369;0.204;0.369;0.204	T	0.48747	-0.9008	10	0.06891	T	0.86	.	4.1006	0.10012	0.4527:0.0:0.5473:0.0	.	512;513;532;511;535	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	I	535;511;513;535;513;512;511;532	ENSP00000445135:V535I;ENSP00000375601:V511I;ENSP00000344074:V513I;ENSP00000409370:V535I;ENSP00000440601:V513I;ENSP00000402474:V512I;ENSP00000441133:V511I;ENSP00000263437:V532I	ENSP00000263437:V532I	V	+	1	0	NLRP2	60186481	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.131000	0.10482	-0.072000	0.12864	-0.224000	0.12420	GTA		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		4	48	0	0	0	1	0	4	48				
CD163	9332	broad.mit.edu	37	12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	ENST00000359156.4	-	14	3440	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R1068W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1080					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCTGCAAGCCGCTGTCTCTGT	0.428																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3238-3240)Cgg>Tgg		CD163 molecule							136.0	150.0	145.0					12																	7635248		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635248G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3238C>T	12.37:g.7635248G>A	ENSP00000352071:p.Arg1080Trp					CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W	p.R1080W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3440	-			1080					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3238C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561979	0.45590	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01599	4.74;4.76;4.75;4.75	4.32	2.45	0.29901	.	1.509870	0.03909	N	0.281544	T	0.02727	0.0082	L	0.29908	0.895	0.09310	N	1	P;B;D	0.69078	0.926;0.003;0.997	B;B;P	0.47528	0.226;0.005;0.549	T	0.43114	-0.9411	10	0.66056	D	0.02	.	5.31	0.15825	0.1032:0.0:0.6972:0.1997	.	1113;1080;1080	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	W	1080;1068;1113;1080	ENSP00000352071:R1080W;ENSP00000444071:R1068W;ENSP00000379863:R1113W;ENSP00000403885:R1080W	ENSP00000352071:R1080W	R	-	1	2	CD163	7526515	0.519000	0.26242	0.036000	0.18154	0.026000	0.11368	0.665000	0.25083	0.744000	0.32741	0.561000	0.74099	CGG		0.428	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		52	113	0	0	0	1	0	52	113				
KIAA1210	57481	broad.mit.edu	37	X	118222475	118222475	+	Missense_Mutation	SNP	C	C	A	rs200561223		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	ENST00000402510.2	-	11	2717	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	906										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGCTGCTGCATAAAATCAT	0.483																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2716-2718)atG>atT		KIAA1210		C	ILE/MET	0,3288		0,0,0,1359,570	50.0	46.0	47.0		2718	-3.4	0.0	X		47	2,6462		0,1,1,2334,1793	yes	missense	KIAA1210	NM_020721.1	10	0,1,1,3693,2363	AA,AC,A,CC,C		0.0309,0.0,0.0205	benign	906/1710	118222475	2,9750	1929	4129	6058	SO:0001583	missense	57481							g.chrX:118222475C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2718G>T	X.37:g.118222475C>A	ENSP00000384670:p.Met906Ile						p.M906I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2717	-			906					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2718G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.428|5.428	0.264173|0.264173	0.10294|0.10294	0.0|0.0	3.09E-4|3.09E-4	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10763	.|2.84	4.25|4.25	-3.4|-3.4	0.04853|0.04853	.|.	.|.	.|.	.|.	.|.	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.39901|0.39901	-0.9591|-0.9591	5|9	.|0.27082	.|T	.|0.32	.|.	2.2596|2.2596	0.04063|0.04063	0.1145:0.322:0.1389:0.4246|0.1145:0.322:0.1389:0.4246	.|.	.|906	.|Q9ULL0	.|K1210_HUMAN	S|I	313|906	.|ENSP00000384670:M906I	.|ENSP00000384670:M906I	A|M	-|-	1|3	0|0	KIAA1210|RP13-347D8.6	118106503|118106503	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.705000|-1.705000	0.01896|0.01896	-1.368000|-1.368000	0.02149|0.02149	-0.905000|-0.905000	0.02835|0.02835	GCA|ATG		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		3	23	1	0	1	1	1	3	23				
LMLN	89782	broad.mit.edu	37	3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	ENST00000330198.4	+	14	1598	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	526					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCCGTTTGTCTAATTCAGAA	0.393																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1576-1578)Cta>Gta		leishmanolysin-like (metallopeptidase M8 family)							142.0	134.0	137.0					3																	197751579		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197751579C>G	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1576C>G	3.37:g.197751579C>G	ENSP00000328829:p.Leu526Val					LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	p.L526V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	14	1598	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	526					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1576C>G	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	8.401	0.842053	0.16963	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.04	2.13	0.27403	.	0.078947	0.52532	D	0.000071	T	0.35970	0.0950	L	0.48362	1.52	0.41228	D	0.986551	B;B;B;B;B	0.15473	0.0;0.001;0.013;0.0;0.0	B;B;B;B;B	0.18263	0.004;0.012;0.021;0.006;0.003	T	0.10200	-1.0640	10	0.22706	T	0.39	-10.2206	8.1736	0.31268	0.0:0.7336:0.0:0.2664	.	526;474;563;555;511	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	V	511;526;563;474	ENSP00000418324:L511V;ENSP00000328829:L526V;ENSP00000410926:L563V;ENSP00000328611:L474V	ENSP00000328829:L526V	L	+	1	2	LMLN	199235976	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.743000	0.26231	0.257000	0.21650	0.650000	0.86243	CTA		0.393	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		12	91	0	0	0	1	0	12	91				
DNMT3A	1788	broad.mit.edu	37	2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	ENST00000264709.3	-	7	1113	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	259	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(775-777)gCt>gGt		DNA (cytosine-5-)-methyltransferase 3 alpha							60.0	63.0	62.0					2																	25470985		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470985G>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.776C>G	2.37:g.25470985G>C	ENSP00000264709:p.Ala259Gly					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G	p.A259G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			7	1113	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		259			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.776C>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689836	0.88735	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.94046	-3.32;-3.3;-3.3;-3.34	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.34521	1.04	0.80722	D	1	P;P	0.51057	0.836;0.941	B;B	0.43809	0.422;0.432	D	0.89120	0.3502	10	0.28530	T	0.3	-8.6505	18.2356	0.89948	0.0:0.0:1.0:0.0	.	259;70	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	G	70;259;259;36	ENSP00000370122:A70G;ENSP00000324375:A259G;ENSP00000264709:A259G;ENSP00000384237:A36G	ENSP00000264709:A259G	A	-	2	0	DNMT3A	25324489	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.913000	0.92730	2.653000	0.90120	0.563000	0.77884	GCT		0.647	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		23	54	0	0	0	1	0	23	54				
FUBP1	8880	broad.mit.edu	37	1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	ENST00000370768.2	-	18	1839	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.W586*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	586					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1756-1758)tgG>tgA		far upstream element (FUSE) binding protein 1							56.0	56.0	56.0					1																	78420962		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78420962C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1758G>A	1.37:g.78420962C>T	ENSP00000359804:p.Trp586*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*	p.W586*			Q96AE4	FUBP1_HUMAN			18	1845	-			586					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.1758G>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	38	6.976393	0.97975	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3913	14.7779	0.69743	0.0:0.9306:0.0:0.0694	.	.	.	.	X	586;586;586;571;607	.	ENSP00000294623:W585X	W	-	3	0	FUBP1	78193550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	1.413000	0.46997	0.655000	0.94253	TGG		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	22	0	0	0	1	0	9	22				
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	ENST00000371497.5	+	2	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(3022-3024)gCg>gTg		teashirt zinc finger homeobox 2							119.0	101.0	107.0					20																	51873020		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873020C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3023C>T	20.37:g.51873020C>T	ENSP00000360552:p.Ala1008Val					TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA	p.A1008V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3910	+			1008					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3023C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820238	0.90873	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.28666	1.6;1.6	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64676	-0.6351	10	0.87932	D	0	-14.5615	19.8075	0.96536	0.0:1.0:0.0:0.0	.	1008	Q9NRE2	TSH2_HUMAN	V	1008;1005	ENSP00000360552:A1008V;ENSP00000333114:A1005V	ENSP00000333114:A1005V	A	+	2	0	TSHZ2	51306427	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.482000	0.81143	2.681000	0.91329	0.637000	0.83480	GCG		0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		19	59	0	0	0	1	0	19	59				
TP53BP2	7159	broad.mit.edu	37	1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-	rs536474172		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	ENST00000343537.7	-	8	1255_1257	c.964_966delAAG	c.(964-966)aagdel	p.K322del	TP53BP2_ENST00000498843.1_5'Flank|TP53BP2_ENST00000391878.2_In_Frame_Del_p.K193del|TP53BP2_ENST00000391879.2_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	316					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(577-579)del		tumor protein p53 binding protein, 2																																				SO:0001651	inframe_deletion	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223990463_223990465delCTT	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.964_966delAAG	1.37:g.223990469_223990471delCTT	ENSP00000341957:p.Lys322del					TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del	p.K193del	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	9	1345_1347	-			316					B4DG66|Q12892|Q86X75|Q96KQ3	In_Frame_Del	DEL	ENST00000343537.7	37	c.577_579delAAG	CCDS44319.1																																																																																				0.463	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		7	162						7	162	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-	rs397517200		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		20	Substitution - Missense(17)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)	endometrium(9)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1354-1359)tta>tt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928078_178928080delAGA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1356_1358delAGA	3.37:g.178928081_178928083delAGA	ENSP00000263967:p.Glu453del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LE452del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1513_1515	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		452			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1356_1358delAGA	CCDS43171.1																																																																																				0.350	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	102						8	102	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589149	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	ENST00000521381.1	+	10	1751_1753	c.1135_1137delAAA	c.(1135-1137)aaadel	p.K379del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GGGAAATAACAAATTAATCAAAA	0.31			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1137)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589147_67589149delAAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1135_1137delAAA	5.37:g.67589147_67589149delAAA	ENSP00000428056:p.Lys379del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del	p.K379del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1751_1753	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1135_1137delAAA	CCDS3993.1																																																																																				0.310	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		11	69						11	69	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26199854	26199856	+	In_Frame_Del	DEL	AGA	AGA	-	rs199976373|rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	ENST00000359985.1	+	1	107_109	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(67-72)cag>c		histone cluster 1, H2bf																																				SO:0001651	inframe_deletion	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199854_26199856delAGA	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.68_70delAGA	6.37:g.26199857_26199859delAGA	ENSP00000353074:p.Lys25del						p.QK23del	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	107_109	+		all_hematologic(11;0.196)	23					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000359985.1	37	c.68_70delAGA	CCDS4592.1																																																																																				0.522	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		61	132						61	132	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	ENST00000257749.4	-	7	2297_2299	c.1590_1592delGGA	c.(1588-1593)gaggac>gac	p.E530del	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_In_Frame_Del_p.E530del	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	530						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGCTCCCGTCCTCCGCGTAGG	0.616																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1588-1593)gac>ga		BTB and CNC homology 1, basic leucine zipper transcription factor 2																																				SO:0001651	inframe_deletion	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660233_90660235delTCC	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1590_1592delGGA	6.37:g.90660236_90660238delTCC	ENSP00000257749:p.Glu530del					RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.ED530del|BACH2_ENST00000343122.3_In_Frame_Del_p.ED530del	p.ED530del	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2297_2299	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	530					E1P518|Q59H70|Q5T793|Q9NTS5	In_Frame_Del	DEL	ENST00000257749.4	37	c.1590_1592delGGA	CCDS5026.1																																																																																				0.616	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		19	63						19	63	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413067	139413069	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	ENST00000277541.6	-	6	1148_1150	c.1073_1075delACT	c.(1072-1077)tactgc>tgc	p.Y358del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	358	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACACTCGCAGTAGAAGGAGGC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1072-1077)tgc>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413067_139413069delAGT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1073_1075delACT	9.37:g.139413067_139413069delAGT	ENSP00000277541:p.Tyr358del	HNSCC(8;0.001)					p.YC358del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1148_1150	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	358			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1073_1075delACT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	29						7	29	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		4	7						4	7	---	---	---	---
