#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
DNAH8	1769	broad.mit.edu	37	6	38690922	38690922	+	5'UTR	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	ENST00000359357.3	+	0	25				DNAH8_ENST00000449981.2_Missense_Mutation_p.R113C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488																																						ENST00000449981.2																			1	Substitution - Missense(1)	p.R113C(1)	lung(1)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(337-339)Cgc>Tgc		dynein, axonemal, heavy chain 8							98.0	91.0	93.0					6																	38690922		876	1991	2867	SO:0001623	5_prime_UTR_variant	1769							g.chr6:38690922C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-230C>T	6.37:g.38690922C>T						DNAH8_ENST00000359357.3_5'UTR	p.R113C							2	446	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.337C>T		.	.	.	.	.	.	.	.	.	.	C	7.553	0.663146	0.14710	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.26957	1.7	5.93	3.21	0.36854	.	0.762347	0.12679	N	0.448115	T	0.06371	0.0164	N	0.19112	0.55	0.20764	N	0.999853	B	0.29037	0.231	B	0.21917	0.037	T	0.28202	-1.0051	10	0.72032	D	0.01	.	9.6517	0.39902	0.0:0.7761:0.0:0.2239	.	113	Q8IU65	.	C	113;101;101	ENSP00000333363:R101C	ENSP00000333363:R101C	R	+	1	0	DNAH8	38798900	0.001000	0.12720	0.015000	0.15790	0.004000	0.04260	0.580000	0.23803	0.861000	0.35504	-0.119000	0.15052	CGC		0.488	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		25	26	0	0	0	1	0	25	26				
OR5M3	219482	broad.mit.edu	37	11	56237501	56237501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	ENST00000312240.2	-	1	513	c.473C>A	c.(472-474)aCa>aAa	p.T158K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(472-474)aCa>aAa		olfactory receptor, family 5, subfamily M, member 3							122.0	112.0	115.0					11																	56237501		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237501G>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.473C>A	11.37:g.56237501G>T	ENSP00000312208:p.Thr158Lys						p.T158K	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	513	-	Esophageal squamous(21;0.00448)		158					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.473C>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358639	0.41801	.	.	ENSG00000174937	ENST00000312240	T	0.00274	8.35	5.22	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00967	0.0032	H	0.96576	3.845	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20306	-1.0279	10	0.87932	D	0	-6.2895	8.4442	0.32833	0.2414:0.0:0.7586:0.0	.	158	Q8NGP4	OR5M3_HUMAN	K	158	ENSP00000312208:T158K	ENSP00000312208:T158K	T	-	2	0	OR5M3	55994077	0.001000	0.12720	0.014000	0.15608	0.537000	0.34900	1.198000	0.32223	1.192000	0.43071	0.549000	0.68633	ACA		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		28	91	1	0	4.87955e-14	1	5.55396e-14	28	91				
POLR3GL	84265	broad.mit.edu	37	1	145457015	145457015	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	ENST00000369314.1	-	7	652	c.546G>C	c.(544-546)gaG>gaC	p.E182D	POLR3GL_ENST00000369313.3_Missense_Mutation_p.E159D	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	182	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(544-546)gaG>gaC		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like							166.0	129.0	142.0					1																	145457015		2203	4300	6503	SO:0001583	missense	84265							g.chr1:145457015C>G	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.546G>C	1.37:g.145457015C>G	ENSP00000358320:p.Glu182Asp					POLR3GL_ENST00000369313.3_Missense_Mutation_p.E159D	p.E182D	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	652	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		182			Glu-rich.		B1MVG5	Missense_Mutation	SNP	ENST00000369314.1	37	c.546G>C	CCDS914.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401016	0.42613	.	.	ENSG00000121851	ENST00000369314;ENST00000369313	.	.	.	5.25	2.25	0.28309	.	0.234402	0.33161	N	0.005208	T	0.28300	0.0699	M	0.64404	1.975	0.36238	D	0.853095	B	0.02656	0.0	B	0.06405	0.002	T	0.05419	-1.0886	9	0.26408	T	0.33	-11.9464	4.7269	0.12945	0.0:0.5836:0.1586:0.2578	.	182	Q9BT43	RPC7L_HUMAN	D	182;159	.	ENSP00000358319:E159D	E	-	3	2	POLR3GL	144168372	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.131000	0.15870	0.329000	0.23460	0.655000	0.94253	GAG		0.478	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		7	25	0	0	0	1	0	7	25				
SPTBN4	57731	broad.mit.edu	37	19	41066266	41066266	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	ENST00000352632.3	+	27	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_ENST00000392025.1_Missense_Mutation_p.M701V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1958V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.M634V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1958V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1958					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5872-5874)Atg>Gtg		spectrin, beta, non-erythrocytic 4							59.0	56.0	57.0					19																	41066266		2203	4299	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41066266A>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5872A>G	19.37:g.41066266A>G	ENSP00000263373:p.Met1958Val					SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.M634V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.M701V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1958V	p.M1958V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		27	5958	+			1958					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5872A>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084444	0.76642	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.59906	1.32;1.32;1.32;0.23	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.69823	2.125	0.44067	D	0.996814	D;D;D;D	0.89917	0.995;1.0;0.994;0.978	D;D;D;P	0.72625	0.978;0.977;0.969;0.7	T	0.73773	-0.3877	10	0.45353	T	0.12	.	12.8731	0.57977	1.0:0.0:0.0:0.0	.	701;634;1958;1958	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	V	1958;1958;1958;701;634	ENSP00000263373:M1958V;ENSP00000340345:M1958V;ENSP00000375879:M701V;ENSP00000375877:M634V	ENSP00000340345:M1958V	M	+	1	0	SPTBN4	45758106	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.981000	0.93465	1.881000	0.54492	0.482000	0.46254	ATG		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			13	76	0	0	0	1	0	13	76				
CNKSR2	22866	broad.mit.edu	37	X	21627466	21627466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	ENST00000379510.3	+	20	2459	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S808Y|CNKSR2_ENST00000425654.2_Missense_Mutation_p.S778Y|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S759Y	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	808					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2332-2334)tCt>tAt		connector enhancer of kinase suppressor of Ras 2							65.0	59.0	61.0					X																	21627466		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627466C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2423C>A	X.37:g.21627466C>A	ENSP00000368824:p.Ser808Tyr					CNKSR2_ENST00000279451.4_Missense_Mutation_p.S808Y|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S759Y|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S808Y	p.S778Y	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2813	+			808					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2333C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814583	0.70912	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19394	2.42;2.15;2.15;2.43	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	L	0.57536	1.79	0.58432	D	0.999998	D;B;D;D	0.71674	0.994;0.036;0.998;0.994	P;B;P;P	0.62089	0.825;0.022;0.898;0.825	T	0.12708	-1.0537	10	0.44086	T	0.13	-17.9478	18.4121	0.90555	0.0:1.0:0.0:0.0	.	778;759;400;808	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	Y	778;759;808;808	ENSP00000397906:S778Y;ENSP00000444633:S759Y;ENSP00000279451:S808Y;ENSP00000368824:S808Y	ENSP00000279451:S808Y	S	+	2	0	CNKSR2	21537387	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.280000	0.78610	2.289000	0.77006	0.513000	0.50165	TCT		0.547	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		27	66	1	0	4.59853e-10	1	5.10948e-10	27	66				
GAK	2580	broad.mit.edu	37	4	861174	861174	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	ENST00000314167.4	-	21	2552	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E735D	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	814					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2440-2442)gaG>gaC		cyclin G associated kinase							75.0	81.0	79.0					4																	861174		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:861174C>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2442G>C	4.37:g.861174C>G	ENSP00000314499:p.Glu814Asp					GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E735D	p.E814D	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	2552	-			814					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2442G>C	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607608	0.28623	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.78924	-0.74;-1.22	4.25	1.96	0.26148	.	0.197604	0.44688	D	0.000435	T	0.61464	0.2349	L	0.35854	1.095	0.23510	N	0.997528	B;P;B;B	0.35612	0.128;0.512;0.128;0.215	B;B;B;B	0.33339	0.065;0.162;0.101;0.065	T	0.55885	-0.8070	10	0.56958	D	0.05	-19.7309	3.5599	0.07878	0.0:0.5632:0.257:0.1799	.	735;735;814;710	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	D	814;735	ENSP00000314499:E814D;ENSP00000421361:E735D	ENSP00000314499:E814D	E	-	3	2	GAK	851174	0.014000	0.17966	0.078000	0.20375	0.094000	0.18550	-0.013000	0.12678	0.876000	0.35872	0.561000	0.74099	GAG		0.587	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		18	90	0	0	0	1	0	18	90				
GALNT1	2589	broad.mit.edu	37	18	33257583	33257583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	ENST00000269195.5	+	3	446	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_ENST00000537549.1_Missense_Mutation_p.L55F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	115	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(343-345)Ctt>Ttt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							158.0	141.0	147.0					18																	33257583		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33257583C>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.343C>T	18.37:g.33257583C>T	ENSP00000269195:p.Leu115Phe					GALNT1_ENST00000537549.1_Missense_Mutation_p.L55F	p.L115F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			3	446	+			115			Catalytic subdomain A.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.343C>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607498	0.87157	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.60672	0.17;0.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	H	0.95539	3.685	0.80722	D	1	D	0.61697	0.99	P	0.60415	0.874	D	0.86986	0.2107	10	0.87932	D	0	.	17.4417	0.87566	0.0:1.0:0.0:0.0	.	115	Q10472	GALT1_HUMAN	F	115;115;55	ENSP00000269195:L115F;ENSP00000440910:L55F	ENSP00000269195:L115F	L	+	1	0	GALNT1	31511581	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.181000	0.50903	2.712000	0.92718	0.591000	0.81541	CTT		0.388	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		15	110	0	0	0	1	0	15	110				
SQSTM1	8878	broad.mit.edu	37	5	179247941	179247941	+	Missense_Mutation	SNP	C	C	T	rs377371202	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	ENST00000389805.4	+	1	183	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_ENST00000360718.5_5'Flank|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A2V|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	2	Interaction with LCK.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716													C|||	2	0.000399361	0.0	0.0014	5008	,	,		10000	0.001		0.0	False		,,,				2504	0.0					ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(4-6)gCg>gTg		sequestosome 1		C	,,VAL/ALA	2,4150		0,2,2074	9.0	10.0	10.0		,,5	3.6	0.8	5		10	0,8204		0,0,4102	no	intron,intron,missense	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	,,64	0,2,6176	TT,TC,CC		0.0,0.0482,0.0162	,,possibly-damaging	,,2/441	179247941	2,12354	2076	4102	6178	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179247941C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.5C>T	5.37:g.179247941C>T	ENSP00000374455:p.Ala2Val					SQSTM1_ENST00000510187.1_Missense_Mutation_p.A2V|SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000376929.3_Intron	p.A2V	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	183	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	2			Interaction with LCK.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.5C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407296	0.62399	4.82E-4	0.0	ENSG00000161011	ENST00000389805;ENST00000504627;ENST00000510187	D;T;T	0.82344	-1.6;1.37;2.46	4.57	3.59	0.41128	.	0.237950	0.32218	U	0.006404	T	0.69070	0.3070	L	0.36672	1.1	0.80722	D	1	B;P	0.43352	0.33;0.804	B;B	0.30646	0.015;0.118	T	0.73430	-0.3985	10	0.66056	D	0.02	-14.2146	8.7656	0.34700	0.162:0.7498:0.0:0.0881	.	2;2	Q13501;E7EMC7	SQSTM_HUMAN;.	V	2	ENSP00000374455:A2V;ENSP00000425957:A2V;ENSP00000424477:A2V	ENSP00000374455:A2V	A	+	2	0	SQSTM1	179180547	1.000000	0.71417	0.848000	0.33437	0.436000	0.31835	0.979000	0.29500	2.060000	0.61445	0.462000	0.41574	GCG		0.716	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			3	6	0	0	0	1	0	3	6				
ZBTB21	49854	broad.mit.edu	37	21	43411516	43411516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:43411516G>A	ENST00000310826.5	-	3	2872	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	ZBTB21_ENST00000398511.3_Missense_Mutation_p.P897S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P696S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P897S|ZBTB21_ENST00000465968.1_5'UTR	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	897					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCTTCTTTGGGGGCTGTGCTG	0.562																																						ENST00000310826.5																			0											c.(2689-2691)Ccc>Tcc		zinc finger and BTB domain containing 21							57.0	62.0	61.0					21																	43411516		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411516G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2689C>T	21.37:g.43411516G>A	ENSP00000308759:p.Pro897Ser					ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P897S|ZBTB21_ENST00000398511.3_Missense_Mutation_p.P897S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P696S	p.P897S	NM_001098402.1	NP_001091872.1					3	2872	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2689C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	5.437	0.265690	0.10294	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08984	3.36;3.03;3.03;3.03	5.86	3.05	0.35203	.	0.761378	0.12065	N	0.502808	T	0.04182	0.0116	N	0.04880	-0.145	0.19775	N	0.99996	B;B	0.33637	0.42;0.013	B;B	0.32090	0.14;0.003	T	0.45131	-0.9282	10	0.22706	T	0.39	-7.4498	9.5531	0.39321	0.1296:0.1171:0.7533:0.0	.	696;897	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	S	696;897;897;897	ENSP00000381517:P696S;ENSP00000308759:P897S;ENSP00000381512:P897S;ENSP00000381523:P897S	ENSP00000308759:P897S	P	-	1	0	ZNF295	42284585	0.020000	0.18652	0.766000	0.31476	0.237000	0.25408	0.407000	0.21049	0.816000	0.34421	0.650000	0.86243	CCC		0.562	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		5	68	0	0	0	1	0	5	68				
MPDZ	8777	broad.mit.edu	37	9	13138080	13138080	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	ENST00000319217.7	-	29	4323	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_ENST00000546205.1_Missense_Mutation_p.G1373A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1359A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1359A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G218A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1359A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1359	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4075-4077)gGt>gCt		multiple PDZ domain protein							87.0	81.0	83.0					9																	13138080		1891	4131	6022	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138080C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4076G>C	9.37:g.13138080C>G	ENSP00000320006:p.Gly1359Ala					MPDZ_ENST00000381015.4_Missense_Mutation_p.G1359A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1373A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1359A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1359A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G218A	p.G1359A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	29	4323	-			1359			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4076G>C		.	.	.	.	.	.	.	.	.	.	C	29.9	5.042583	0.93685	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.72	5.72	0.89469	.	0.000000	0.47852	D	0.000207	T	0.78084	0.4228	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	T	0.80513	-0.1349	10	0.62326	D	0.03	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	1326;218;64;1326;1239;1359	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	A	1359;1359;1359;295;218;1326;1326;1359;1239;1373;181	ENSP00000320006:G1359A;ENSP00000439807:G1359A;ENSP00000370410:G1359A;ENSP00000444230:G295A;ENSP00000444717:G218A;ENSP00000444151:G1326A;ENSP00000415208:G1326A;ENSP00000370403:G1359A;ENSP00000446358:G1373A;ENSP00000389705:G181A	ENSP00000320006:G1359A	G	-	2	0	MPDZ	13128080	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.786000	0.85741	2.695000	0.91970	0.650000	0.86243	GGT		0.438	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		9	68	0	0	0	1	0	9	68				
PLA2G4A	5321	broad.mit.edu	37	1	186934577	186934577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	ENST00000367466.3	+	15	1768	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D479G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	539	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GAGCCTCTGGATGTCAAAAGT	0.353																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1615-1617)gAt>gGt		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						101.0	102.0	102.0					1																	186934577		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186934577A>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1616A>G	1.37:g.186934577A>G	ENSP00000356436:p.Asp539Gly					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D479G	p.D539G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			15	1768	+			539			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1616A>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450606	0.84101	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.12147	2.71;2.71	5.41	5.41	0.78517	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.994;0.992	D;D	0.66847	0.947;0.927	T	0.01084	-1.1457	10	0.51188	T	0.08	-24.6483	14.6441	0.68748	1.0:0.0:0.0:0.0	.	479;539	E7EU42;P47712	.;PA24A_HUMAN	G	539;479	ENSP00000356436:D539G;ENSP00000406892:D479G	ENSP00000356436:D539G	D	+	2	0	PLA2G4A	185201200	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.747000	0.91610	2.055000	0.61198	0.533000	0.62120	GAT		0.353	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		14	72	0	0	0	1	0	14	72				
SDR42E1	93517	broad.mit.edu	37	16	82034402	82034402	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	ENST00000328945.5	-	2	189	c.62G>C	c.(61-63)gGt>gCt	p.G21A	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	21					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(61-63)gGt>gCt		short chain dehydrogenase/reductase family 42E, member 1							91.0	89.0	90.0					16																	82034402		1849	4088	5937	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82034402C>G	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.62G>C	16.37:g.82034402C>G	ENSP00000332407:p.Gly21Ala					SDR42E1_ENST00000534209.1_5'UTR	p.G21A	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			2	189	-			21					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.62G>C	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623386	0.87460	.	.	ENSG00000184860	ENST00000328945	D	0.99376	-5.79	5.59	5.59	0.84812	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.099823	0.64402	D	0.000002	D	0.99372	0.9779	M	0.78637	2.42	0.58432	D	0.999995	D	0.71674	0.998	D	0.77004	0.989	D	0.99410	1.0930	10	0.54805	T	0.06	-17.6812	18.5909	0.91212	0.0:1.0:0.0:0.0	.	21	Q8WUS8	D42E1_HUMAN	A	21	ENSP00000332407:G21A	ENSP00000332407:G21A	G	-	2	0	SDR42E1	80591903	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.965000	0.76067	2.611000	0.88343	0.650000	0.86243	GGT		0.383	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		13	56	0	0	0	1	0	13	56				
PRPF31	26121	broad.mit.edu	37	19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	ENST00000321030.4	+	9	1214	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W|PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	289	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(865-867)Cgg>Tgg		pre-mRNA processing factor 31							23.0	25.0	24.0					19																	54629912		2202	4299	6501	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54629912C>T	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.865C>T	19.37:g.54629912C>T	ENSP00000324122:p.Arg289Trp					PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W|PRPF31_ENST00000498612.1_3'UTR	p.R289W	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			9	1214	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		289			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.865C>T	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899757	0.72754	.	.	ENSG00000105618	ENST00000321030;ENST00000263436;ENST00000419967;ENST00000391755	T;T;T	0.63744	-0.06;-0.06;-0.06	5.56	4.51	0.55191	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.049113	0.85682	D	0.000000	T	0.81856	0.4911	M	0.91300	3.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.85385	0.1122	10	0.66056	D	0.02	-44.8434	12.3604	0.55199	0.4162:0.5838:0.0:0.0	.	289;289	E7ESA8;Q8WWY3	.;PRP31_HUMAN	W	289	ENSP00000324122:R289W;ENSP00000405166:R289W;ENSP00000375635:R289W	ENSP00000263436:R289W	R	+	1	2	PRPF31	59321724	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.885000	0.48570	1.474000	0.48178	0.655000	0.94253	CGG		0.617	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			5	20	0	0	0	1	0	5	20				
OR6M1	390261	broad.mit.edu	37	11	123676272	123676272	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	ENST00000309154.2	-	1	823	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(784-786)aaC>aaT		olfactory receptor, family 6, subfamily M, member 1							113.0	104.0	107.0					11																	123676272		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676272G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.786C>T	11.37:g.123676272G>A							p.N262N	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	823	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	262					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.786C>T	CCDS31696.1																																																																																				0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		11	34	0	0	0	1	0	11	34				
FBN2	2201	broad.mit.edu	37	5	127730892	127730892	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	ENST00000508053.1	-	15	2128	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_ENST00000508989.1_Missense_Mutation_p.K352T|FBN2_ENST00000262464.4_Missense_Mutation_p.K385T			P35556	FBN2_HUMAN	fibrillin 2	385	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1153-1155)aAa>aCa		fibrillin 2							87.0	79.0	82.0					5																	127730892		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127730892T>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1154A>C	5.37:g.127730892T>G	ENSP00000424571:p.Lys385Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.K385T|FBN2_ENST00000508989.1_Missense_Mutation_p.K352T	p.K385T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	15	2128	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	385			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1154A>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288418	0.59976	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.97089	-4.24;-4.24;-4.24	4.44	2.08	0.27032	Matrix fibril-associated (3);TGF-beta binding (1);	0.075352	0.50627	D	0.000119	D	0.97176	0.9077	M	0.86420	2.815	0.44807	D	0.997813	B;P	0.48998	0.407;0.918	B;P	0.50378	0.32;0.639	D	0.95733	0.8776	10	0.59425	D	0.04	.	9.0655	0.36460	0.0:0.226:0.0:0.774	.	352;385	D6RJI3;P35556	.;FBN2_HUMAN	T	385;385;352	ENSP00000262464:K385T;ENSP00000424571:K385T;ENSP00000425596:K352T	ENSP00000262464:K385T	K	-	2	0	FBN2	127758791	1.000000	0.71417	0.043000	0.18650	0.829000	0.46940	3.671000	0.54576	0.476000	0.27440	0.533000	0.62120	AAA		0.547	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	24	0	0	0	1	0	5	24				
NKX2-8	26257	broad.mit.edu	37	14	37051529	37051529	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	ENST00000258829.5	-	1	283	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	22					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701																																						ENST00000258829.5																			0				upper_aerodigestive_tract(1)	1						c.(64-66)gcG>gcA		NK2 homeobox 8							21.0	22.0	22.0					14																	37051529		2203	4297	6500	SO:0001819	synonymous_variant	26257				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:37051529C>T		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.66G>A	14.37:g.37051529C>T							p.A22A	NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)	1	283	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		22					Q8IUT7	Silent	SNP	ENST00000258829.5	37	c.66G>A	CCDS9660.1																																																																																				0.701	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6			3	17	0	0	0	1	0	3	17				
MAGEA3	4102	broad.mit.edu	37	X	151935721	151935721	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	ENST00000393902.3	-	3	1013	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	149	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(445-447)gTg>gCg		melanoma antigen family A, 3							147.0	130.0	136.0					X																	151935721		2203	4294	6497	SO:0001583	missense	4102							g.chrX:151935721A>G		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.446T>C	X.37:g.151935721A>G	ENSP00000377480:p.Val149Ala					MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149A	p.V149A			P43357	MAGA3_HUMAN			3	1013	-	Acute lymphoblastic leukemia(192;6.56e-05)		149			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.446T>C	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	a	5.848	0.340604	0.11069	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04502	3.61;3.61;3.61	1.42	-2.84	0.05751	.	0.554792	0.18152	N	0.150041	T	0.06416	0.0165	M	0.76938	2.355	0.09310	N	1	B	0.33494	0.414	B	0.37422	0.249	T	0.22977	-1.0201	10	0.37606	T	0.19	.	2.3506	0.04282	0.3352:0.2275:0.0:0.4373	.	149	P43357	MAGA3_HUMAN	A	149	ENSP00000359301:V149A;ENSP00000377480:V149A;ENSP00000392758:V149A	ENSP00000359301:V149A	V	-	2	0	MAGEA3	151686377	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.243000	0.02905	-2.084000	0.00866	-1.030000	0.02411	GTG		0.517	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		83	107	0	0	0	1	0	83	107				
TTC26	79989	broad.mit.edu	37	7	138863316	138863316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	ENST00000464848.1	+	14	1294	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_ENST00000478836.2_Missense_Mutation_p.A298G|TTC26_ENST00000343187.4_Missense_Mutation_p.A374G|TTC26_ENST00000430935.1_Missense_Mutation_p.A405G|TTC26_ENST00000495038.1_Missense_Mutation_p.A274G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	405					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(1213-1215)gCa>gGa		tetratricopeptide repeat domain 26							116.0	111.0	112.0					7																	138863316		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138863316C>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1214C>G	7.37:g.138863316C>G	ENSP00000419279:p.Ala405Gly					TTC26_ENST00000343187.4_Missense_Mutation_p.A374G|TTC26_ENST00000430935.1_Missense_Mutation_p.A405G|TTC26_ENST00000478836.2_Missense_Mutation_p.A298G|TTC26_ENST00000495038.1_Missense_Mutation_p.A274G	p.A405G			A0AVF1	TTC26_HUMAN			14	1294	+			405					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1214C>G	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897916	0.72639	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.63580	-0.05;1.12;1.12;1.12;1.12	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.055319	0.64402	D	0.000001	T	0.72036	0.3411	L	0.41632	1.29	0.80722	D	1	B;D;B;B	0.67145	0.012;0.996;0.376;0.099	B;D;B;B	0.77557	0.008;0.99;0.115;0.034	T	0.66834	-0.5823	10	0.26408	T	0.33	.	18.3305	0.90267	0.0:1.0:0.0:0.0	.	274;374;405;405	B7Z2T3;F8W724;C9J2N7;A0AVF1	.;.;.;TTC26_HUMAN	G	405;274;298;405;374	ENSP00000410655:A405G;ENSP00000418788:A274G;ENSP00000419178:A298G;ENSP00000419279:A405G;ENSP00000339135:A374G	ENSP00000339135:A374G	A	+	2	0	TTC26	138513856	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.247000	0.78257	2.626000	0.88956	0.557000	0.71058	GCA		0.368	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		8	57	0	0	0	1	0	8	57				
SACM1L	22908	broad.mit.edu	37	3	45744968	45744968	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	ENST00000389061.5	+	2	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.M6V|SACM1L_ENST00000418611.1_5'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	24					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(70-72)gAt>gGt		SAC1 suppressor of actin mutations 1-like (yeast)							135.0	132.0	133.0					3																	45744968		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45744968A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.71A>G	3.37:g.45744968A>G	ENSP00000373713:p.Asp24Gly					SACM1L_ENST00000541314.1_Missense_Mutation_p.M6V|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR	p.D24G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	2	275	+			24					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.71A>G	CCDS33745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.56|16.56	3.157181|3.157181	0.57259|0.57259	.|.	.|.	ENSG00000211456|ENSG00000211456	ENST00000389061|ENST00000438671;ENST00000541314	T|T	0.46063|0.39592	0.88|1.07	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.174957|.	0.49916|.	D|.	0.000131|.	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.41710|0.41710	1.295|1.295	0.31443|0.31443	N|N	0.671702|0.671702	B|B	0.09022|0.18461	0.002|0.028	B|B	0.12156|0.14023	0.007|0.01	T|T	0.46512|0.46512	-0.9186|-0.9186	10|9	0.72032|0.87932	D|D	0.01|0	-15.5801|-15.5801	15.3251|15.3251	0.74154|0.74154	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	24|6	Q9NTJ5|B4DK71	SAC1_HUMAN|.	G|V	24|6	ENSP00000373713:D24G|ENSP00000443373:M6V	ENSP00000373713:D24G|ENSP00000411966:M6V	D|M	+|+	2|1	0|0	SACM1L|SACM1L	45719972|45719972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.488000|8.488000	0.90458|0.90458	2.020000|2.020000	0.59435|0.59435	0.482000|0.482000	0.46254|0.46254	GAT|ATG		0.358	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		18	52	0	0	0	1	0	18	52				
CYTH4	27128	broad.mit.edu	37	22	37696974	37696974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	ENST00000248901.6	+	7	648	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	154	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(460-462)cCg>cTg		cytohesin 4							42.0	39.0	40.0					22																	37696974		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37696974C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.461C>T	22.37:g.37696974C>T	ENSP00000248901:p.Pro154Leu					CYTH4_ENST00000439667.1_3'UTR	p.P154L	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			7	648	+			154			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.461C>T	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925537	0.92319	.	.	ENSG00000100055	ENST00000248901;ENST00000422721	T	0.60797	0.16	4.22	4.22	0.49857	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90855	0.4734	10	0.87932	D	0	.	15.7205	0.77705	0.0:1.0:0.0:0.0	.	154;167	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	L	154;167	ENSP00000248901:P154L	ENSP00000248901:P154L	P	+	2	0	CYTH4	36026920	1.000000	0.71417	0.912000	0.35992	0.942000	0.58702	7.588000	0.82629	2.078000	0.62432	0.462000	0.41574	CCG		0.667	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			3	18	0	0	0	1	0	3	18				
AHNAK2	113146	broad.mit.edu	37	14	105408008	105408008	+	Missense_Mutation	SNP	C	C	T	rs202138825	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	ENST00000333244.5	-	7	13899	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4594						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642													C|||	3	0.000599042	0.0	0.0	5008	,	,		19205	0.003		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13780-13782)Gtg>Atg		AHNAK nucleoprotein 2		C	MET/VAL	0,4020		0,0,2010	82.0	94.0	90.0		13780	1.2	0.0	14		90	1,8319		0,1,4159	yes	missense	AHNAK2	NM_138420.2	21	0,1,6169	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	4594/5796	105408008	1,12339	2010	4160	6170	SO:0001583	missense	113146					nucleus		g.chr14:105408008C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13780G>A	14.37:g.105408008C>T	ENSP00000353114:p.Val4594Met					AHNAK2_ENST00000557457.1_Intron	p.V4594M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13899	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4594					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13780G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.327149	0.24080	0.0	1.2E-4	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.18	1.22	0.21188	.	.	.	.	.	T	0.01061	0.0035	M	0.73319	2.225	0.09310	N	1	P	0.42357	0.777	B	0.37422	0.249	T	0.47824	-0.9087	9	0.33940	T	0.23	.	4.8575	0.13566	0.0:0.4601:0.3084:0.2315	.	4594	Q8IVF2	AHNK2_HUMAN	M	4594	ENSP00000353114:V4594M	ENSP00000353114:V4594M	V	-	1	0	AHNAK2	104479053	0.992000	0.36948	0.005000	0.12908	0.015000	0.08874	0.714000	0.25808	-0.081000	0.12662	0.194000	0.17425	GTG		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		33	86	0	0	0	1	0	33	86				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			22	43	0	0	0	1	0	22	43				
TJP1	7082	broad.mit.edu	37	15	30058630	30058630	+	Missense_Mutation	SNP	C	C	T	rs377122303		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	ENST00000346128.6	-	5	902	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_ENST00000545208.2_Missense_Mutation_p.R143Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R147Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R143Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R143Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	143					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(427-429)cGg>cAg		tight junction protein 1		C	GLN/ARG,GLN/ARG	0,3970		0,0,1985	158.0	156.0	157.0		428,428	3.7	0.0	15		157	1,8345		0,1,4172	no	missense,missense	TJP1	NM_003257.3,NM_175610.2	43,43	0,1,6157	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	143/1749,143/1669	30058630	1,12315	1985	4173	6158	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30058630C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.428G>A	15.37:g.30058630C>T	ENSP00000281537:p.Arg143Gln					TJP1_ENST00000400011.2_Missense_Mutation_p.R147Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R143Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R143Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R143Q	p.R143Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	5	902	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	143					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.428G>A	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589636	0.46214	0.0	1.2E-4	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.06687	3.28;3.41;3.33;3.27	5.59	3.68	0.42216	.	0.110266	0.64402	D	0.000005	T	0.17323	0.0416	M	0.61703	1.905	0.22811	N	0.998709	D;D;P;P	0.65815	0.992;0.995;0.76;0.89	P;P;B;B	0.57371	0.663;0.819;0.066;0.301	T	0.04467	-1.0949	9	.	.	.	.	7.487	0.27439	0.0:0.7183:0.1375:0.1442	.	136;143;143;147	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	143;147;143;143;143	ENSP00000281537:R143Q;ENSP00000382890:R147Q;ENSP00000441202:R143Q;ENSP00000348416:R143Q	.	R	-	2	0	TJP1	27845922	0.948000	0.32251	0.035000	0.18076	0.562000	0.35680	2.078000	0.41567	0.695000	0.31675	0.655000	0.94253	CGG		0.468	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		21	65	0	0	0	1	0	21	65				
GPR112	139378	broad.mit.edu	37	X	135430980	135430980	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	ENST00000394143.1	+	6	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_ENST00000370652.1_Missense_Mutation_p.Q1705H|GPR112_ENST00000287534.4_Missense_Mutation_p.Q1642H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q1500H|GPR112_ENST00000412101.1_Missense_Mutation_p.Q1500H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1705					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5113-5115)caG>caC		G protein-coupled receptor 112							138.0	126.0	130.0					X																	135430980		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430980G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5115G>C	X.37:g.135430980G>C	ENSP00000377699:p.Gln1705His					GPR112_ENST00000287534.4_Missense_Mutation_p.Q1642H|GPR112_ENST00000370652.1_Missense_Mutation_p.Q1705H|GPR112_ENST00000412101.1_Missense_Mutation_p.Q1500H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q1500H	p.Q1705H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5406	+	Acute lymphoblastic leukemia(192;0.000127)		1705					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5115G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937228	0.52972	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.38722	1.16;1.16;1.12;1.22;1.12	2.99	-5.17	0.02849	.	.	.	.	.	T	0.43700	0.1259	L	0.34521	1.04	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.995	D;D;D	0.79784	0.986;0.993;0.984	T	0.40384	-0.9566	9	0.51188	T	0.08	.	5.5714	0.17198	0.2013:0.3683:0.4303:0.0	.	1642;1500;1705	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1705;1705;1500;1642;1500	ENSP00000377699:Q1705H;ENSP00000359686:Q1705H;ENSP00000416526:Q1500H;ENSP00000287534:Q1642H;ENSP00000377697:Q1500H	ENSP00000287534:Q1642H	Q	+	3	2	GPR112	135258646	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	-0.721000	0.04963	-1.060000	0.03189	-0.366000	0.07423	CAG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			26	164	0	0	0	1	0	26	164				
OR2AG2	338755	broad.mit.edu	37	11	6789861	6789861	+	Missense_Mutation	SNP	C	C	T	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	ENST00000338569.2	-	1	425	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522													C|||	7	0.00139776	0.0053	0.0	5008	,	,		21916	0.0		0.0	False		,,,				2504	0.0					ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(328-330)Gct>Act		olfactory receptor, family 2, subfamily AG, member 2		C	THR/ALA	29,4373	34.3+/-65.2	1,27,2173	94.0	80.0	84.0		328	3.6	0.4	11	dbSNP_134	84	0,8592		0,0,4296	yes	missense	OR2AG2	NM_001004490.1	58	1,27,6469	TT,TC,CC		0.0,0.6588,0.2232	benign	110/317	6789861	29,12965	2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789861C>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.328G>A	11.37:g.6789861C>T	ENSP00000342697:p.Ala110Thr						p.A110T	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	425	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	110						Missense_Mutation	SNP	ENST00000338569.2	37	c.328G>A	CCDS31413.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.694	0.496687	0.12762	0.006588	0.0	ENSG00000188124	ENST00000338569	T	0.01119	5.31	4.47	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	T	0.00552	0.0018	N	0.05441	-0.05	0.09310	N	1	P	0.37955	0.612	B	0.35353	0.201	T	0.54622	-0.8266	10	0.49607	T	0.09	.	7.0957	0.25309	0.0:0.8031:0.0:0.1969	.	110	A6NM03	O2AG2_HUMAN	T	110	ENSP00000342697:A110T	ENSP00000342697:A110T	A	-	1	0	OR2AG2	6746437	0.000000	0.05858	0.422000	0.26621	0.060000	0.15804	-1.273000	0.02823	1.484000	0.48361	0.655000	0.94253	GCT		0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		16	27	0	0	0	1	0	16	27				
CUX2	23316	broad.mit.edu	37	12	111748299	111748299	+	Silent	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	ENST00000261726.6	+	15	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	571					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1711-1713)atC>atA		cut-like homeobox 2							68.0	79.0	76.0					12																	111748299		2154	4241	6395	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748299C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1713C>A	12.37:g.111748299C>A							p.I571I	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			15	1867	+			571					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1713C>A	CCDS41837.1																																																																																				0.677	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		27	58	1	0	1.68575e-08	1	1.8295e-08	27	58				
CYTH3	9265	broad.mit.edu	37	7	6217518	6217518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	ENST00000350796.3	-	5	440	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	102	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(304-306)Gcc>Acc		cytohesin 3							128.0	120.0	123.0					7																	6217518		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6217518C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.304G>A	7.37:g.6217518C>T	ENSP00000297044:p.Ala102Thr						p.A102T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			5	440	-			102			SEC7.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.304G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145671	0.94603	.	.	ENSG00000008256	ENST00000350796	T	0.55052	0.54	5.16	5.16	0.70880	.	0.103027	0.64402	D	0.000003	T	0.74473	0.3721	H	0.97077	3.935	0.80722	D	1	D	0.58620	0.983	P	0.47915	0.561	D	0.84804	0.0786	10	0.62326	D	0.03	.	19.0284	0.92944	0.0:1.0:0.0:0.0	.	102	O43739-2	.	T	102	ENSP00000297044:A102T	ENSP00000297044:A102T	A	-	1	0	CYTH3	6184043	1.000000	0.71417	0.956000	0.39512	0.861000	0.49209	5.896000	0.69822	2.559000	0.86315	0.655000	0.94253	GCC		0.463	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		16	74	0	0	0	1	0	16	74				
EVPL	2125	broad.mit.edu	37	17	74003589	74003589	+	Silent	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	ENST00000301607.3	-	22	5950	c.5697C>A	c.(5695-5697)gcC>gcA	p.A1899A	EVPL_ENST00000586740.1_Silent_p.A1921A|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1899	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5695-5697)gcC>gcA		envoplakin							80.0	69.0	73.0					17																	74003589		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003589G>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5697C>A	17.37:g.74003589G>T						EVPL_ENST00000586740.1_Silent_p.A1921A	p.A1899A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5950	-			1899			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5697C>A	CCDS11737.1																																																																																				0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		15	108	1	0	2.32078e-09	1	2.55835e-09	15	108				
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(10-12)Gtc>Atc		ADAM metallopeptidase domain 2							76.0	77.0	77.0					8																	39695695		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39695695C>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.10G>A	8.37:g.39695695C>T	ENSP00000265708:p.Val4Ile					ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I	p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	1	113	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	4					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.10G>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052393	0.19827	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02158	5.03;4.42;5.28;5.24	3.27	-4.34	0.03666	.	.	.	.	.	T	0.01320	0.0043	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.34587	0.037;0.458;0.219;0.127	B;B;B;B	0.20184	0.005;0.028;0.022;0.008	T	0.43972	-0.9358	8	.	.	.	.	2.5789	0.04813	0.2198:0.1744:0.4884:0.1174	.	4;4;4;4	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	4	ENSP00000343854:V4I;ENSP00000369182:V4I;ENSP00000265708:V4I;ENSP00000429352:V4I	.	V	-	1	0	ADAM2	39814852	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.546000	0.00932	-1.102000	0.03023	-0.363000	0.07495	GTC		0.612	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		5	31	0	0	0	1	0	5	31				
TBCK	93627	broad.mit.edu	37	4	106967769	106967769	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	ENST00000273980.5	-	27	3087	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_ENST00000394706.3_Missense_Mutation_p.I841M|TBCK_ENST00000432496.2_Missense_Mutation_p.I880M|TBCK_ENST00000394708.2_Missense_Mutation_p.I880M|TBCK_ENST00000361687.4_Missense_Mutation_p.I817M					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2638-2640)atA>atG		TBC1 domain containing kinase							121.0	117.0	119.0					4																	106967769		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:106967769T>C		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2640A>G	4.37:g.106967769T>C	ENSP00000273980:p.Ile880Met					TBCK_ENST00000432496.2_Missense_Mutation_p.I880M|TBCK_ENST00000394706.3_Missense_Mutation_p.I841M|TBCK_ENST00000361687.4_Missense_Mutation_p.I817M|TBCK_ENST00000394708.2_Missense_Mutation_p.I880M	p.I880M			Q8TEA7	TBCK_HUMAN			27	3087	-			880			Rhodanese.			Missense_Mutation	SNP	ENST00000273980.5	37	c.2640A>G	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.039025	0.35989	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.37	2.24	0.28232	Rhodanese-like (5);	0.225081	0.37095	N	0.002257	T	0.15565	0.0375	N	0.11560	0.145	0.41003	D	0.984941	B;B;B	0.17667	0.016;0.021;0.023	B;B;B	0.26614	0.071;0.011;0.042	T	0.05716	-1.0868	10	0.56958	D	0.05	.	5.7343	0.18057	0.0806:0.2481:0.5425:0.1288	.	880;841;817	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	M	880;880;817;841;880	ENSP00000273980:I880M;ENSP00000405847:I880M;ENSP00000355338:I817M;ENSP00000378196:I841M;ENSP00000378198:I880M	ENSP00000273980:I880M	I	-	3	3	TBCK	107187218	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	1.465000	0.35299	0.637000	0.30526	-0.144000	0.13903	ATA		0.408	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		12	23	0	0	0	1	0	12	23				
IKBKE	9641	broad.mit.edu	37	1	206649566	206649566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	ENST00000367120.3	+	6	774	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_ENST00000537984.1_Missense_Mutation_p.R49H	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(400-402)cGc>cAc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							96.0	81.0	86.0					1																	206649566		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206649566G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.401G>A	1.37:g.206649566G>A	ENSP00000356087:p.Arg134His					IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.R49H	p.R134H	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			6	774	+	Breast(84;0.137)		134			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.401G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840117	0.91117	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.61859	0.07;0.78	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86381	0.5919	H	0.98295	4.195	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.91458	0.5187	10	0.87932	D	0	-0.3366	19.5465	0.95299	0.0:0.0:1.0:0.0	.	49;134	Q3B754;Q14164	.;IKKE_HUMAN	H	134;49	ENSP00000356087:R134H;ENSP00000444529:R49H	ENSP00000356087:R134H	R	+	2	0	IKBKE	204716189	1.000000	0.71417	0.955000	0.39395	0.424000	0.31475	9.805000	0.99149	2.692000	0.91855	0.491000	0.48974	CGC		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			5	68	0	0	0	1	0	5	68				
PTPRH	5794	broad.mit.edu	37	19	55710148	55710148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	ENST00000376350.3	-	8	1575	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T340I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	518	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1552-1554)aCt>aTt		protein tyrosine phosphatase, receptor type, H							164.0	137.0	146.0					19																	55710148		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55710148G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1553C>T	19.37:g.55710148G>A	ENSP00000365528:p.Thr518Ile					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T340I	p.T518I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	8	1575	-		Renal(1328;0.245)	518			Fibronectin type-III 6.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1553C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.923917	0.02377	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57907	0.37;0.37	3.11	-6.21	0.02065	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23128	0.08;0.065;0.026	B;B;B	0.20184	0.02;0.012;0.028	T	0.11060	-1.0603	9	0.35671	T	0.21	.	3.717	0.08442	0.2088:0.1394:0.5141:0.1376	.	340;340;518	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	I	518;340	ENSP00000365528:T518I;ENSP00000263434:T340I	ENSP00000263434:T340I	T	-	2	0	PTPRH	60401960	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.092000	0.00608	-2.274000	0.00680	-0.367000	0.07326	ACT		0.592	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			10	30	0	0	0	1	0	10	30				
MPDZ	8777	broad.mit.edu	37	9	13138059	13138059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	ENST00000319217.7	-	29	4344	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_ENST00000546205.1_Missense_Mutation_p.G1380E|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1366E|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1366E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G225E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1366E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1366	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4096-4098)gGg>gAg		multiple PDZ domain protein							94.0	88.0	89.0					9																	13138059		1893	4138	6031	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138059C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4097G>A	9.37:g.13138059C>T	ENSP00000320006:p.Gly1366Glu					MPDZ_ENST00000381015.4_Missense_Mutation_p.G1366E|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1380E|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1366E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1366E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G225E	p.G1366E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	29	4344	-			1366			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4097G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.420706	0.96111	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.72	5.72	0.89469	.	0.000000	0.47455	D	0.000226	T	0.77212	0.4097	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.963;0.975;1.0;1.0;1.0	T	0.81856	-0.0740	10	0.87932	D	0	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	1333;225;71;1333;1246;1366	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	E	1366;1366;1366;302;225;1333;1333;1366;1246;1380;188	ENSP00000320006:G1366E;ENSP00000439807:G1366E;ENSP00000370410:G1366E;ENSP00000444230:G302E;ENSP00000444717:G225E;ENSP00000444151:G1333E;ENSP00000415208:G1333E;ENSP00000370403:G1366E;ENSP00000446358:G1380E;ENSP00000389705:G188E	ENSP00000320006:G1366E	G	-	2	0	MPDZ	13128059	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.695000	0.91970	0.650000	0.86243	GGG		0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		12	65	0	0	0	1	0	12	65				
KLRF1	51348	broad.mit.edu	37	12	9995006	9995006	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	ENST00000279544.3	+	5	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000324214.4_Silent_p.V138V	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358																																						ENST00000279544.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(562-564)gtG>gtA		killer cell lectin-like receptor subfamily F, member 1							143.0	137.0	139.0					12																	9995006		1848	4100	5948	SO:0001819	synonymous_variant	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9995006G>A	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.564G>A	12.37:g.9995006G>A						KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Silent_p.V138V|KLRF1_ENST00000537723.1_Intron	p.V188V	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN			5	628	+			188			C-type lectin.		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Silent	SNP	ENST00000279544.3	37	c.564G>A	CCDS41750.1																																																																																				0.358	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		11	66	0	0	0	1	0	11	66				
AKAP4	8852	broad.mit.edu	37	X	49958081	49958081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	ENST00000376056.2	-	5	1406	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	AKAP4_ENST00000376064.3_Missense_Mutation_p.K419R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K428R					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1255-1257)aAg>aGg		A kinase (PRKA) anchor protein 4							108.0	99.0	102.0					X																	49958081		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958081T>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1256A>G	X.37:g.49958081T>C	ENSP00000365224:p.Lys419Arg					AKAP4_ENST00000376064.3_Missense_Mutation_p.K419R|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K428R|AKAP4_ENST00000481402.1_5'UTR	p.K419R			Q5JQC9	AKAP4_HUMAN			5	1406	-	Ovarian(276;0.236)		428						Missense_Mutation	SNP	ENST00000376056.2	37	c.1256A>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.052016	0.00394	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07216	3.21;3.21;3.21	4.6	3.43	0.39272	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.51477	D	0.000089	T	0.05410	0.0143	L	0.28115	0.83	0.80722	D	1	B	0.16603	0.018	B	0.15484	0.013	T	0.41466	-0.9507	9	.	.	.	-16.5988	6.4568	0.21934	0.0:0.1168:0.0:0.8832	.	428	Q5JQC9	AKAP4_HUMAN	R	419;428;419	ENSP00000365224:K419R;ENSP00000351327:K428R;ENSP00000365232:K419R	.	K	-	2	0	AKAP4	49844821	0.993000	0.37304	0.980000	0.43619	0.048000	0.14542	2.018000	0.40991	0.464000	0.27142	-0.639000	0.03973	AAG		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		36	101	0	0	0	1	0	36	101				
MAPKAPK5	8550	broad.mit.edu	37	12	112321472	112321472	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	ENST00000551404.2	+	9	856	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.I250V			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(748-750)Atc>Gtc		mitogen-activated protein kinase-activated protein kinase 5							198.0	186.0	190.0					12																	112321472		1951	4146	6097	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112321472A>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.748A>G	12.37:g.112321472A>G	ENSP00000449381:p.Ile250Val					MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.I250V	p.I250V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			9	1504	+			250			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.748A>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.805991	0.70682	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	T;T	0.64991	-0.13;-0.13	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046368	0.85682	D	0.000000	T	0.65249	0.2673	N	0.17631	0.505	0.58432	D	0.999999	P;B;B	0.42649	0.786;0.45;0.395	P;B;B	0.57548	0.823;0.31;0.207	T	0.70292	-0.4912	10	0.87932	D	0	-11.2453	15.5995	0.76613	1.0:0.0:0.0:0.0	.	244;250;250	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	V	250;250;250;17;250	ENSP00000449667:I250V;ENSP00000449381:I250V	ENSP00000202788:I250V	I	+	1	0	MAPKAPK5	110805855	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.962000	0.93254	2.090000	0.63153	0.455000	0.32223	ATC		0.468	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		26	128	0	0	0	1	0	26	128				
CCDC148	130940	broad.mit.edu	37	2	159201746	159201746	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	ENST00000283233.5	-	3	545	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q78E|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q87E	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(232-234)Cag>Gag		coiled-coil domain containing 148							296.0	271.0	279.0					2																	159201746		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159201746G>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.232C>G	2.37:g.159201746G>C	ENSP00000283233:p.Gln78Glu					CCDC148_ENST00000409889.1_Missense_Mutation_p.Q78E|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q87E|CCDC148_ENST00000536771.1_Intron	p.Q78E	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			3	545	-			78					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.232C>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817843	0.16607	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000409889	T;T;T	0.37915	1.17;1.17;1.17	5.88	3.89	0.44902	.	.	.	.	.	T	0.19525	0.0469	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.04930	-1.0917	9	0.07990	T	0.79	-12.4015	7.4042	0.26981	0.0:0.1596:0.6128:0.2277	.	78	Q8NFR7	CC148_HUMAN	E	78;87;78	ENSP00000283233:Q78E;ENSP00000386674:Q87E;ENSP00000386583:Q78E	ENSP00000283233:Q78E	Q	-	1	0	CCDC148	158909992	0.997000	0.39634	0.967000	0.41034	0.993000	0.82548	2.904000	0.48719	1.442000	0.47568	0.655000	0.94253	CAG		0.383	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		24	125	0	0	0	1	0	24	125				
SSPO	23145	broad.mit.edu	37	7	149474867	149474867	+	RNA	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	ENST00000378016.2	+	0	666							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682																																						ENST00000378016.2																			0													SCO-spondin							15.0	18.0	17.0					7																	149474867		2043	4167	6210			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474867G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474867G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	666	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	12	0	0	0	1	0	5	12				
ARAP2	116984	broad.mit.edu	37	4	36126576	36126576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	ENST00000303965.4	-	22	4143	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1218	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3652-3654)gaC>gaA		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							132.0	133.0	133.0					4																	36126576		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36126576G>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3654C>A	4.37:g.36126576G>T	ENSP00000302895:p.Asp1218Glu						p.D1218E	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			22	4143	-			1218			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3654C>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	1.482	-0.556929	0.03967	.	.	ENSG00000047365	ENST00000303965	T	0.16597	2.33	5.42	-2.92	0.05615	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.280522	0.35772	N	0.002998	T	0.03390	0.0098	N	0.02854	-0.475	0.19945	N	0.999943	B	0.06786	0.001	B	0.10450	0.005	T	0.29119	-1.0022	10	0.02654	T	1	.	0.357	0.00358	0.3708:0.1718:0.1838:0.2735	.	1218	Q8WZ64	ARAP2_HUMAN	E	1218	ENSP00000302895:D1218E	ENSP00000302895:D1218E	D	-	3	2	ARAP2	35802971	0.971000	0.33674	0.943000	0.38184	0.872000	0.50106	0.055000	0.14229	-0.730000	0.04869	0.585000	0.79938	GAC		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	64	1	0	1.58986e-06	1	1.69909e-06	11	64				
RIOK3	8780	broad.mit.edu	37	18	21047458	21047458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	ENST00000339486.3	+	7	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_ENST00000577501.1_Missense_Mutation_p.K261N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K245N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	261	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(781-783)aaG>aaT		RIO kinase 3							109.0	99.0	103.0					18																	21047458		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21047458G>T	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.783G>T	18.37:g.21047458G>T	ENSP00000341874:p.Lys261Asn					RIOK3_ENST00000577501.1_Missense_Mutation_p.K261N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K245N	p.K261N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			7	1400	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		261			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.783G>T	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926065	0.34002	.	.	ENSG00000101782	ENST00000339486	T	0.08370	3.1	5.65	1.9	0.25705	RIO kinase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49818	-0.8899	10	0.87932	D	0	-24.4852	9.9563	0.41668	0.3442:0.0:0.6558:0.0	.	245;261;261	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	N	261	ENSP00000341874:K261N	ENSP00000341874:K261N	K	+	3	2	RIOK3	19301456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.038000	0.30254	0.330000	0.23485	0.650000	0.86243	AAG		0.368	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		9	77	1	0	4.68919e-08	1	5.0499e-08	9	77				
MED12	9968	broad.mit.edu	37	X	70345937	70345937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	ENST00000374080.3	+	18	2506	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_ENST00000374102.1_Missense_Mutation_p.T825N|MED12_ENST00000333646.6_Missense_Mutation_p.T825N			Q93074	MED12_HUMAN	mediator complex subunit 12	825					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2473-2475)aCt>aAt		mediator complex subunit 12							136.0	126.0	129.0					X																	70345937		1974	4132	6106	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345937C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2474C>A	X.37:g.70345937C>A	ENSP00000363193:p.Thr825Asn					MED12_ENST00000374102.1_Missense_Mutation_p.T825N|MED12_ENST00000374080.3_Missense_Mutation_p.T825N	p.T825N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			18	2673	+	Renal(35;0.156)		825					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2474C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.566134	0.45694	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.78842	0.4347	N	0.20401	0.57	0.80722	D	1	D;B;B;D	0.59767	0.986;0.179;0.104;0.976	D;B;B;D	0.65874	0.939;0.026;0.171;0.926	T	0.73209	-0.4055	10	0.02654	T	1	-11.6914	16.8049	0.85623	0.0:1.0:0.0:0.0	.	825;672;825;825	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	825;825;825;825;793	ENSP00000333125:T825N;ENSP00000363215:T825N;ENSP00000363193:T825N;ENSP00000414203:T793N	ENSP00000333125:T825N	T	+	2	0	MED12	70262662	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.103000	0.77014	2.142000	0.66516	0.462000	0.41574	ACT		0.552	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		19	94	1	0	9.7654e-05	1	0.000101271	19	94				
OR7G3	390883	broad.mit.edu	37	19	9237223	9237223	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	ENST00000305444.2	-	1	403	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(403-405)aTc>aAc		olfactory receptor, family 7, subfamily G, member 3							82.0	80.0	81.0					19																	9237223		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237223A>T		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.404T>A	19.37:g.9237223A>T	ENSP00000302867:p.Ile135Asn						p.I135N	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	403	-			135					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.404T>A	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558747	0.65538	.	.	ENSG00000170920	ENST00000305444	T	0.21543	2.0	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.165528	0.28182	U	0.016299	T	0.53690	0.1812	H	0.95816	3.725	0.32453	N	0.545203	D	0.71674	0.998	P	0.62491	0.903	T	0.73889	-0.3840	10	0.87932	D	0	.	12.2397	0.54536	1.0:0.0:0.0:0.0	.	135	Q8NG95	OR7G3_HUMAN	N	135	ENSP00000302867:I135N	ENSP00000302867:I135N	I	-	2	0	OR7G3	9098223	0.189000	0.23263	0.110000	0.21437	0.063000	0.16089	3.345000	0.52182	1.825000	0.53177	0.450000	0.29827	ATC		0.488	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			18	79	0	0	0	1	0	18	79				
NPAP1	23742	broad.mit.edu	37	15	24924470	24924470	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:24924470T>A	ENST00000329468.2	+	1	3930	c.3456T>A	c.(3454-3456)tgT>tgA	p.C1152*		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1152					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACATGTCTGTTTCCAACTTC	0.428																																						ENST00000329468.2																			0											c.(3454-3456)tgT>tgA		nuclear pore associated protein 1							82.0	72.0	76.0					15																	24924470		2203	4299	6502	SO:0001587	stop_gained	23742							g.chr15:24924470T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3456T>A	15.37:g.24924470T>A	ENSP00000333735:p.Cys1152*						p.C1152*	NM_018958.2	NP_061831.2					1	3930	+									Nonsense_Mutation	SNP	ENST00000329468.2	37	c.3456T>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	42	9.329100	0.99138	.	.	ENSG00000185823	ENST00000329468	.	.	.	2.08	-1.73	0.08081	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8599	0.05583	0.0:0.3433:0.2636:0.3931	.	.	.	.	X	1152	.	ENSP00000333735:C1152X	C	+	3	2	C15orf2	22475563	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.122000	0.10627	-0.468000	0.06922	0.383000	0.25322	TGT		0.428	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		16	77	0	0	0	1	0	16	77				
HSF5	124535	broad.mit.edu	37	17	56540259	56540259	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	ENST00000323777.3	-	4	1535	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	476					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(1426-1428)Cag>Gag		heat shock transcription factor family member 5							254.0	222.0	233.0					17																	56540259		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540259G>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1426C>G	17.37:g.56540259G>C	ENSP00000313243:p.Gln476Glu						p.Q476E	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			4	1535	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		476					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1426C>G	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870539	0.51588	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.76709	-1.04	4.86	4.86	0.63082	.	0.328116	0.24384	N	0.038998	T	0.63105	0.2483	N	0.19112	0.55	0.24597	N	0.993798	B	0.33904	0.431	B	0.31812	0.136	T	0.62407	-0.6861	10	0.87932	D	0	.	10.5648	0.45167	0.0:0.0:0.8079:0.1921	.	476	Q4G112	HSF5_HUMAN	E	376;476	ENSP00000313243:Q476E	ENSP00000313243:Q476E	Q	-	1	0	HSF5	53895258	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.220000	0.58567	2.529000	0.85273	0.650000	0.86243	CAG		0.468	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		85	75	0	0	0	1	0	85	75				
GPAM	57678	broad.mit.edu	37	10	113919721	113919721	+	Missense_Mutation	SNP	C	C	T	rs556698222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	ENST00000348367.4	-	17	2047	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_ENST00000369425.1_Missense_Mutation_p.R617Q|GPAM_ENST00000423155.1_Missense_Mutation_p.R617Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	617					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1849-1851)cGg>cAg		glycerol-3-phosphate acyltransferase, mitochondrial							61.0	62.0	62.0					10																	113919721		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113919721C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1850G>A	10.37:g.113919721C>T	ENSP00000265276:p.Arg617Gln					GPAM_ENST00000369425.1_Missense_Mutation_p.R617Q|GPAM_ENST00000423155.1_Missense_Mutation_p.R617Q	p.R617Q			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	17	2047	-			617					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1850G>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352490	0.61293	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.68903	-0.36;-0.36;-0.36	5.25	2.4	0.29515	.	0.124555	0.56097	N	0.000031	T	0.72301	0.3443	L	0.51422	1.61	0.47621	D	0.999479	D;P	0.89917	1.0;0.641	D;B	0.79108	0.992;0.172	T	0.66192	-0.5985	10	0.28530	T	0.3	-6.2379	9.1042	0.36687	0.0:0.7725:0.0:0.2275	.	617;617	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Q	617	ENSP00000265276:R617Q;ENSP00000409242:R617Q;ENSP00000358433:R617Q	ENSP00000265276:R617Q	R	-	2	0	GPAM	113909711	0.999000	0.42202	0.998000	0.56505	0.989000	0.77384	0.788000	0.26872	0.313000	0.23062	0.655000	0.94253	CGG		0.547	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		8	37	0	0	0	1	0	8	37				
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	rs185822333	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		17507	0.002		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(994-996)cGc>cAc		solute carrier family 4 (anion exchanger), member 3							38.0	44.0	42.0					2																	220497018		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497018G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.995G>A	2.37:g.220497018G>A	ENSP00000350756:p.Arg332His					SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000497589.1_3'UTR	p.R332H			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1507	+		Renal(207;0.0183)	332					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.995G>A	CCDS2445.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.185146	0.78677	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	3.85	2.96	0.34315	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.215051	0.40144	N	0.001179	T	0.69196	0.3084	N	0.08118	0	0.30454	N	0.775007	P;P	0.49961	0.818;0.93	B;P	0.53401	0.416;0.725	T	0.67791	-0.5579	10	0.62326	D	0.03	.	6.4671	0.21987	0.2241:0.0:0.7759:0.0	.	332;359	P48751;P48751-3	B3A3_HUMAN;.	H	332;332;359;359;332;134	ENSP00000350756:R332H;ENSP00000362865:R332H;ENSP00000273063:R359H;ENSP00000362867:R359H;ENSP00000314006:R332H;ENSP00000414722:R134H	ENSP00000273063:R359H	R	+	2	0	SLC4A3	220205262	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.221000	0.58574	2.126000	0.65437	0.561000	0.74099	CGC		0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	34	0	0	0	1	0	4	34				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	71	0	0	0	1	0	5	71				
GSDMD	79792	broad.mit.edu	37	8	144641509	144641509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:144641509G>T	ENST00000526406.1	+	5	887	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	GSDMD_ENST00000533063.1_Missense_Mutation_p.G50W|GSDMD_ENST00000262580.4_Missense_Mutation_p.G2W	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	2					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGAGCATGGGGTCGGCCTT	0.627																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4-6)Ggg>Tgg		gasdermin D							58.0	54.0	55.0					8																	144641509		2203	4299	6502	SO:0001583	missense	79792							g.chr8:144641509G>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.4G>T	8.37:g.144641509G>T	ENSP00000433209:p.Gly2Trp					GSDMD_ENST00000533063.1_Missense_Mutation_p.G50W|GSDMD_ENST00000262580.4_Missense_Mutation_p.G2W	p.G2W	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			5	887	+			2					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.4G>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617887	0.28801	.	.	ENSG00000104518	ENST00000526406;ENST00000529854;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T;T	0.63744	1.82;0.88;2.75;1.77;1.82;-0.06;1.34;2.53	4.57	-0.805	0.10879	.	2.085940	0.02295	N	0.070627	T	0.69260	0.3091	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.64830	0.993;0.994;0.994;0.979	P;P;P;P	0.58721	0.844;0.715;0.715;0.792	T	0.57418	-0.7815	10	0.72032	D	0.01	-10.8758	8.0579	0.30617	0.2026:0.548:0.2494:0.0	.	32;2;2;50	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	W	2;2;2;50;2;2;18;2	ENSP00000433209:G2W;ENSP00000432351:G2W;ENSP00000434386:G2W;ENSP00000433958:G50W;ENSP00000262580:G2W;ENSP00000434452:G2W;ENSP00000436684:G18W;ENSP00000437065:G2W	ENSP00000262580:G2W	G	+	1	0	GSDMD	144712652	0.004000	0.15560	0.043000	0.18650	0.051000	0.14879	-0.673000	0.05239	-0.070000	0.12908	-0.189000	0.12847	GGG		0.627	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		10	26	1	0	0.0692343	1	0.0697324	10	26				
ACOT11	26027	broad.mit.edu	37	1	55072901	55072901	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	ENST00000371316.3	+	14	1547	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V489M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	489	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1465-1467)Gtg>Atg		acyl-CoA thioesterase 11							129.0	91.0	104.0					1																	55072901		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55072901G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1465G>A	1.37:g.55072901G>A	ENSP00000360366:p.Val489Met					ACOT11_ENST00000343744.2_Missense_Mutation_p.V489M|ACOT11_ENST00000481208.1_3'UTR	p.V489M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			14	1547	+			489			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1465G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119638	0.77323	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	D;D	0.82711	-1.64;-1.64	5.24	4.33	0.51752	Lipid-binding START (3);START-like domain (1);	0.178191	0.50627	D	0.000109	D	0.88941	0.6574	M	0.71206	2.165	0.45515	D	0.998476	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.93	D	0.89367	0.3672	10	0.87932	D	0	-18.5759	10.426	0.44378	0.1499:0.0:0.8501:0.0	.	489;489	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	M	489	ENSP00000340260:V489M;ENSP00000360366:V489M	ENSP00000340260:V489M	V	+	1	0	ACOT11	54845489	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	4.091000	0.57700	1.356000	0.45884	0.561000	0.74099	GTG		0.627	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		10	64	0	0	0	1	0	10	64				
C19orf48	84798	broad.mit.edu	37	19	51301536	51301536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	ENST00000598463.1	-	5	1268	c.170C>T	c.(169-171)cCa>cTa	p.P57L	SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.P57L|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000596655.1_Missense_Mutation_p.P57L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P57L|C19orf48_ENST00000595794.1_5'Flank			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647																																						ENST00000598463.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(169-171)cCa>cTa		chromosome 19 open reading frame 48							134.0	123.0	127.0					19																	51301536		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301536G>A	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.170C>T	19.37:g.51301536G>A	ENSP00000471463:p.Pro57Leu					C19orf48_ENST00000391812.1_Missense_Mutation_p.P57L|C19orf48_ENST00000596655.1_Missense_Mutation_p.P57L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P57L	p.P57L			Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1268	-		all_neural(266;0.057)	57						Missense_Mutation	SNP	ENST00000598463.1	37	c.170C>T	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	g	5.067	0.198109	0.09652	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.32753	1.44;1.44	1.93	1.93	0.25924	.	.	.	.	.	T	0.34454	0.0898	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.08932	-1.0698	9	0.87932	D	0	.	7.4018	0.26969	0.0:0.0:1.0:0.0	.	57	Q6RUI8	CS048_HUMAN	L	57	ENSP00000375688:P57L;ENSP00000301419:P57L	ENSP00000301419:P57L	P	-	2	0	C19orf48	55993348	0.102000	0.21896	0.018000	0.16275	0.005000	0.04900	0.527000	0.22987	1.435000	0.47434	0.407000	0.27541	CCA		0.647	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		25	140	0	0	0	1	0	25	140				
NUP188	23511	broad.mit.edu	37	9	131745580	131745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	ENST00000372577.2	+	18	1826	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	602					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|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)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1804-1806)aCa>aTa		nucleoporin 188kDa							201.0	189.0	193.0					9																	131745580		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131745580C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1805C>T	9.37:g.131745580C>T	ENSP00000361658:p.Thr602Ile						p.T602I	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			18	1826	+			602					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1805C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059575	0.55325	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65549	-0.16	5.43	5.43	0.79202	.	0.160927	0.56097	D	0.000029	T	0.53674	0.1811	N	0.19112	0.55	0.58432	D	0.999994	P	0.37914	0.611	B	0.40329	0.326	T	0.56275	-0.8006	10	0.46703	T	0.11	-21.3824	18.5867	0.91192	0.0:1.0:0.0:0.0	.	602	Q5SRE5	NU188_HUMAN	I	491;602	ENSP00000361658:T602I	ENSP00000349125:T491I	T	+	2	0	NUP188	130785401	0.997000	0.39634	0.224000	0.23877	0.820000	0.46376	5.539000	0.67199	2.708000	0.92522	0.563000	0.77884	ACA		0.448	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			19	136	0	0	0	1	0	19	136				
CDH12	1010	broad.mit.edu	37	5	21817163	21817163	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	ENST00000382254.1	-	9	1979	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_ENST00000504376.2_Missense_Mutation_p.F298C|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.F258C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(892-894)tTt>tGt		cadherin 12, type 2 (N-cadherin 2)							110.0	108.0	108.0					5																	21817163		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817163A>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.893T>G	5.37:g.21817163A>C	ENSP00000371689:p.Phe298Cys	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.F258C|CDH12_ENST00000504376.2_Missense_Mutation_p.F298C|CDH12_ENST00000521384.1_5'UTR	p.F298C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			9	1979	-			298			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.893T>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416402	0.62511	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.50813	0.73;0.73;0.73	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.153919	0.64402	D	0.000016	T	0.43233	0.1238	L	0.28400	0.85	0.39292	D	0.964759	P;P	0.40834	0.491;0.73	P;B	0.46419	0.516;0.361	T	0.50499	-0.8821	10	0.87932	D	0	.	10.2298	0.43247	0.9215:0.0:0.0785:0.0	.	258;298	B7Z2U6;P55289	.;CAD12_HUMAN	C	298;298;258	ENSP00000423577:F298C;ENSP00000371689:F298C;ENSP00000428786:F258C	ENSP00000371689:F298C	F	-	2	0	CDH12	21852920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.704000	0.61831	1.971000	0.57363	0.477000	0.44152	TTT		0.388	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		23	88	0	0	0	1	0	23	88				
OR2M5	127059	broad.mit.edu	37	1	248309136	248309136	+	Silent	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	ENST00000366476.1	+	1	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(685-687)ggA>ggT		olfactory receptor, family 2, subfamily M, member 5							272.0	260.0	264.0					1																	248309136		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309136A>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.687A>T	1.37:g.248309136A>T							p.G229G	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	687	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		229						Silent	SNP	ENST00000366476.1	37	c.687A>T	CCDS31105.1																																																																																				0.443	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		55	317	0	0	0	1	0	55	317				
GANAB	23193	broad.mit.edu	37	11	62400106	62400106	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	ENST00000356638.3	-	9	943	c.927C>T	c.(925-927)cgC>cgT	p.R309R	GANAB_ENST00000346178.4_Silent_p.R331R|GANAB_ENST00000534779.1_Silent_p.R217R|GANAB_ENST00000540933.1_Silent_p.R212R|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	309			R -> C (in dbSNP:rs1063445).		cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCCCAAGTCGCGATGAGGGT	0.532																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(991-993)cgC>cgT		glucosidase, alpha; neutral AB							208.0	204.0	206.0					11																	62400106		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400106G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.927C>T	11.37:g.62400106G>A						GANAB_ENST00000356638.3_Silent_p.R309R|GANAB_ENST00000534779.1_Silent_p.R217R|GANAB_ENST00000540933.1_Silent_p.R212R	p.R331R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			10	1008	-			309					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.993C>T	CCDS8026.1																																																																																				0.532	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		47	132	0	0	0	1	0	47	132				
DDX26B	203522	broad.mit.edu	37	X	134709030	134709030	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	ENST00000370752.4	+	13	1986	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1651-1653)gTt>gAt		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							175.0	153.0	161.0					X																	134709030		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134709030T>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1652T>A	X.37:g.134709030T>A	ENSP00000359788:p.Val551Asp					DDX26B_ENST00000493637.1_3'UTR	p.V551D	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			13	1986	+	Acute lymphoblastic leukemia(192;6.56e-05)		551					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1652T>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315822	0.81469	.	.	ENSG00000165359	ENST00000370752	T	0.44881	0.91	5.82	4.64	0.57946	.	0.054735	0.64402	D	0.000001	T	0.58666	0.2138	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.934	T	0.62044	-0.6937	10	0.87932	D	0	-3.8374	10.4112	0.44294	0.0:0.0789:0.0:0.9211	.	551;551	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	D	551	ENSP00000359788:V551D	ENSP00000359788:V551D	V	+	2	0	DDX26B	134536696	1.000000	0.71417	0.898000	0.35279	0.984000	0.73092	6.260000	0.72502	1.956000	0.56807	0.481000	0.45027	GTT		0.413	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		24	103	0	0	0	1	0	24	103				
BCL2L13	23786	broad.mit.edu	37	22	18185020	18185020	+	Silent	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	ENST00000317582.5	+	6	815	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000399782.1_Silent_p.P156P|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Silent_p.P32P|BCL2L13_ENST00000493680.1_Silent_p.P156P|BCL2L13_ENST00000355028.3_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	156					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363																																						ENST00000317582.5																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(466-468)ccT>ccG		BCL2-like 13 (apoptosis facilitator)							137.0	135.0	135.0					22																	18185020		2203	4300	6503	SO:0001819	synonymous_variant	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18185020T>G	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.468T>G	22.37:g.18185020T>G						BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Silent_p.P156P|BCL2L13_ENST00000538149.1_Silent_p.P32P|BCL2L13_ENST00000493680.1_Silent_p.P156P|BCL2L13_ENST00000355028.3_Intron	p.P156P	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	6	815	+		all_epithelial(15;0.123)	156					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	37	c.468T>G	CCDS13746.1																																																																																				0.363	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		11	90	0	0	0	1	0	11	90				
TRIM13	10206	broad.mit.edu	37	13	50586329	50586329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	ENST00000378182.3	+	2	991	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	TRIM13_ENST00000298772.5_Missense_Mutation_p.I88V|TRIM13_ENST00000457662.2_Missense_Mutation_p.I85V|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.I85V|TRIM13_ENST00000356017.4_Missense_Mutation_p.I88V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	85					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(253-255)Atc>Gtc		tripartite motif containing 13							101.0	97.0	98.0					13																	50586329		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586329A>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.253A>G	13.37:g.50586329A>G	ENSP00000367424:p.Ile85Val					TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.I85V|TRIM13_ENST00000356017.4_Missense_Mutation_p.I88V|TRIM13_ENST00000420995.2_Missense_Mutation_p.I85V|TRIM13_ENST00000298772.5_Missense_Mutation_p.I88V	p.I85V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	991	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	85					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.253A>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381243	0.24944	.	.	ENSG00000204977	ENST00000442421;ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T;T	0.23552	2.29;2.36;1.9;1.9;2.44;1.9;2.44	5.61	4.41	0.53225	Zinc finger, RING/FYVE/PHD-type (1);	0.049551	0.85682	D	0.000000	T	0.18215	0.0437	N	0.13168	0.305	0.39320	D	0.965228	P;P	0.47191	0.826;0.891	B;P	0.47299	0.341;0.543	T	0.04386	-1.0955	10	0.12430	T	0.62	-6.031	11.9612	0.53009	0.8698:0.0:0.0:0.1302	.	85;88	O60858;O60858-3	TRI13_HUMAN;.	V	85;85;85;85;88;85;88	ENSP00000404586:I85V;ENSP00000367425:I85V;ENSP00000412943:I85V;ENSP00000367424:I85V;ENSP00000348299:I88V;ENSP00000399206:I85V;ENSP00000298772:I88V	ENSP00000298772:I88V	I	+	1	0	TRIM13	49484330	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.373000	0.79623	0.923000	0.37045	0.533000	0.62120	ATC		0.438	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		53	28	0	0	0	1	0	53	28				
EDAR	10913	broad.mit.edu	37	2	109546658	109546658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	ENST00000258443.2	-	3	522	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_ENST00000409271.1_Missense_Mutation_p.C31Y|EDAR_ENST00000376651.1_Missense_Mutation_p.C31Y	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	31					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(91-93)tGc>tAc		ectodysplasin A receptor							86.0	78.0	81.0					2																	109546658		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109546658C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.92G>A	2.37:g.109546658C>T	ENSP00000258443:p.Cys31Tyr					EDAR_ENST00000376651.1_Missense_Mutation_p.C31Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C31Y	p.C31Y			Q9UNE0	EDAR_HUMAN			4	535	-			31					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.92G>A	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501138	0.85176	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94862	-3.43;-3.54;-3.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.98264	1.0500	10	0.87932	D	0	-24.3491	19.3839	0.94548	0.0:1.0:0.0:0.0	.	31;31	E9PC98;Q9UNE0	.;EDAR_HUMAN	Y	31	ENSP00000386371:C31Y;ENSP00000258443:C31Y;ENSP00000365839:C31Y	ENSP00000258443:C31Y	C	-	2	0	EDAR	108913090	1.000000	0.71417	0.983000	0.44433	0.868000	0.49771	7.109000	0.77062	2.562000	0.86427	0.563000	0.77884	TGC		0.602	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			5	34	0	0	0	1	0	5	34				
OC90	729330	broad.mit.edu	37	8	133044199	133044199	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	ENST00000443356.2	-	13	1094	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	OC90_ENST00000262283.5_Silent_p.P532P|OC90_ENST00000603859.1_Silent_p.P320P|OC90_ENST00000254627.3_Silent_p.P320P			Q02509	OC90_HUMAN	otoconin 90	336	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1594-1596)ccG>ccA		otoconin 90							74.0	76.0	75.0					8																	133044199		2000	4177	6177	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044199C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1008G>A	8.37:g.133044199C>T						OC90_ENST00000254627.3_Silent_p.P320P|OC90_ENST00000443356.2_Silent_p.P336P|OC90_ENST00000603859.1_Silent_p.P320P	p.P532P			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		16	1695	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		336					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.1596G>A																																																																																					0.547	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		13	45	0	0	0	1	0	13	45				
C10orf55	414236	broad.mit.edu	37	10	75675025	75675025	+	Intron	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	ENST00000409178.1	-	2	268				PLAU_ENST00000372764.3_Silent_p.P329P|PLAU_ENST00000446342.1_Silent_p.P312P|PLAU_ENST00000372762.4_Silent_p.P293P|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					ATCTCTATCCGGAGCAGCTGA	0.512																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(934-936)ccG>ccA		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						102.0	101.0	102.0					10																	75675025		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75675025G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1251C>T	10.37:g.75675025G>A						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Silent_p.P329P|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.P293P	p.P312P	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			9	1418	+	Prostate(51;0.0112)		329			Peptidase S1.		Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	c.936G>A	CCDS53541.1																																																																																				0.512	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		21	87	0	0	0	1	0	21	87				
OR2T4	127074	broad.mit.edu	37	1	248525025	248525025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	ENST00000366475.1	+	1	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(142-144)gGa>gTa		olfactory receptor, family 2, subfamily T, member 4							155.0	139.0	145.0					1																	248525025		2203	4299	6502	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525025G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.143G>T	1.37:g.248525025G>T	ENSP00000355431:p.Gly48Val						p.G48V	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	143	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		48					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.143G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467946	0.43839	.	.	ENSG00000196944	ENST00000366475	T	0.00659	5.94	3.21	3.21	0.36854	.	0.000000	0.44285	D	0.000479	T	0.04452	0.0122	M	0.85299	2.745	0.40345	D	0.979074	D	0.89917	1.0	D	0.85130	0.997	T	0.14364	-1.0475	10	0.87932	D	0	.	11.3177	0.49401	0.0:0.1861:0.8139:0.0	.	48	Q8NH00	OR2T4_HUMAN	V	48	ENSP00000355431:G48V	ENSP00000355431:G48V	G	+	2	0	OR2T4	246591648	0.183000	0.23186	0.443000	0.26883	0.190000	0.23558	0.531000	0.23052	1.315000	0.45114	0.306000	0.20318	GGA		0.458	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		26	159	1	0	1.1804e-14	1	1.35455e-14	26	159				
CRLF2	64109	broad.mit.edu	37	X	1321390	1321390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	ENST00000381567.3	-	4	364	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_ENST00000381566.1_Missense_Mutation_p.P122L|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	122	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACGTGCTTCGGGGAACTGGG	0.542			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(364-366)cCg>cTg		cytokine receptor-like factor 2							246.0	259.0	255.0					X																	1321390		2053	4192	6245	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1321390G>A	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.365C>T	X.37:g.1321390G>A	ENSP00000370979:p.Pro122Leu					CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.P122L	p.P122L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			4	364	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	122			Fibronectin type-III.		Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	g	8.837	0.941237	0.18281	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	D;D;D	0.92699	-3.09;-3.09;-3.09	2.11	2.11	0.27256	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.94456	0.8216	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86878	0.2040	9	0.87932	D	0	-10.325	7.9579	0.30053	0.0:0.0:1.0:0.0	.	122	Q9HC73	CRLF2_HUMAN	L	122	ENSP00000370979:P122L;ENSP00000383641:P122L;ENSP00000370978:P122L	ENSP00000370978:P122L	P	-	2	0	CRLF2	1281390	0.171000	0.23029	0.052000	0.19188	0.007000	0.05969	0.771000	0.26633	0.882000	0.36016	0.367000	0.22151	CCG		0.542	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		24	120	0	0	0	1	0	24	120				
G6PD	2539	broad.mit.edu	37	X	153760890	153760890	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	ENST00000393564.2	-	10	1291	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.R439R|G6PD_ENST00000393562.2_Silent_p.R423R	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	393			R -> H (in Nashville/Anaheim; class I). {ECO:0000269|PubMed:1536798}.		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1267-1269)cgC>cgT		glucose-6-phosphate dehydrogenase							76.0	64.0	68.0					X																	153760890		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760890G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1179C>T	X.37:g.153760890G>A						G6PD_ENST00000369620.2_Silent_p.R439R|G6PD_ENST00000393564.2_Silent_p.R393R	p.R423R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			10	1652	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		393					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.1269C>T	CCDS44023.1																																																																																				0.612	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		24	66	0	0	0	1	0	24	66				
SCAF1	58506	broad.mit.edu	37	19	50156700	50156700	+	Silent	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	ENST00000360565.3	+	7	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1018	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3052-3054)cgA>cgC		SR-related CTD-associated factor 1							6.0	7.0	7.0					19																	50156700		2064	4135	6199	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156700A>C	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3054A>C	19.37:g.50156700A>C							p.R1018R	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	3178	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1018			Glu-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3054A>C	CCDS33074.1																																																																																				0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		182	6	0	0	0	1	0	182	6				
FLG	2312	broad.mit.edu	37	1	152284454	152284454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	ENST00000368799.1	-	3	2943	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	970	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2908-2910)Cat>Aat		filaggrin							237.0	239.0	238.0					1																	152284454		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284454G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2908C>A	1.37:g.152284454G>T	ENSP00000357789:p.His970Asn					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H970N	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2943	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		970			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2908C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.024	0.001860	0.07819	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.02197	4.4	3.01	0.956	0.19608	.	.	.	.	.	T	0.00998	0.0033	M	0.75447	2.3	0.09310	N	1	B	0.29212	0.237	B	0.28305	0.088	T	0.45906	-0.9229	9	0.17832	T	0.49	.	5.6137	0.17420	0.2861:0.0:0.7139:0.0	.	970	P20930	FILA_HUMAN	N	970;177	ENSP00000357789:H970N	ENSP00000357789:H970N	H	-	1	0	FLG	150551078	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.136000	0.15974	0.472000	0.27344	0.473000	0.43528	CAT		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	450	1	0	1.41401e-22	1	1.67764e-22	63	450				
MEOX2	4223	broad.mit.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			2	Substitution - coding silent(2)	p.A302A(2)	large_intestine(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(904-906)gcG>gcA		mesenchyme homeobox 2							120.0	103.0	109.0					7																	15652021		2203	4300	6503	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652021C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.906G>A	7.37:g.15652021C>T							p.A302A	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1315	-			302					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.906G>A	CCDS34605.1																																																																																				0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		9	66	0	0	0	1	0	9	66				
MACF1	23499	broad.mit.edu	37	1	39815264	39815264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	ENST00000372915.3	+	41	11032	c.10945C>T	c.(10945-10947)Ctc>Ttc	p.L3649F	MACF1_ENST00000567887.1_Missense_Mutation_p.L3681F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1582F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2084F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1582F|MACF1_ENST00000564288.1_Missense_Mutation_p.L3644F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1582F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1582F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3649					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGGATCTCTCTGCTTT	0.498																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10930-10932)Ctc>Ttc		microtubule-actin crosslinking factor 1							100.0	106.0	104.0					1																	39815264		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39815264C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10945C>T	1.37:g.39815264C>T	ENSP00000362006:p.Leu3649Phe					MACF1_ENST00000545844.1_Missense_Mutation_p.L1582F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1582F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1582F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1582F|MACF1_ENST00000372915.3_Missense_Mutation_p.L3649F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3681F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2084F	p.L3644F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		42	11707	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3649					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.10930C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.523705|2.523705	0.44866|0.44866	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.64618|.	0.96;-0.11;0.96;0.96;0.96;0.96;0.94|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.256104|.	0.27754|.	N|.	0.018000|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.59357|.	0.92;0.985;0.977;0.58|.	P;P;P;P|.	0.58928|.	0.623;0.796;0.848;0.504|.	T|T	0.70637|0.70637	-0.4817|-0.4817	10|5	0.34782|.	T|.	0.22|.	.|.	18.3838|18.3838	0.90459|0.90459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3649;1582;1582;1547|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	F|F	1582;3649;1582;1582;1582;1731;2084|715	ENSP00000439537:L1582F;ENSP00000362006:L3649F;ENSP00000354573:L1582F;ENSP00000313438:L1582F;ENSP00000444364:L1582F;ENSP00000437059:L1731F;ENSP00000289893:L2084F|.	ENSP00000289893:L2084F|.	L|S	+|+	1|2	0|0	MACF1|MACF1	39587851|39587851	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.892000|0.892000	0.51952|0.51952	3.532000|3.532000	0.53553|0.53553	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	108	0	0	0	1	0	15	108				
FAM47B	170062	broad.mit.edu	37	X	34961870	34961870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	ENST00000329357.5	+	1	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	308	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCCATCTCCGCCCAGAGCC	0.632																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(922-924)Cgc>Tgc		family with sequence similarity 47, member B							56.0	54.0	55.0					X																	34961870		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961870C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.922C>T	X.37:g.34961870C>T	ENSP00000328307:p.Arg308Cys						p.R308C	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	958	+			308			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.922C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	5.780	0.328358	0.10956	.	.	ENSG00000189132	ENST00000329357	T	0.21543	2.0	0.235	0.235	0.15431	.	.	.	.	.	T	0.08403	0.0209	N	0.04959	-0.14	0.28628	N	0.9078	B	0.18610	0.029	B	0.09377	0.004	T	0.25187	-1.0139	9	0.49607	T	0.09	.	3.0748	0.06242	0.4792:0.5205:2.0E-4:1.0E-4	.	308	Q8NA70	FA47B_HUMAN	C	308	ENSP00000328307:R308C	ENSP00000328307:R308C	R	+	1	0	FAM47B	34871791	0.004000	0.15560	0.039000	0.18376	0.039000	0.13416	-0.258000	0.08733	0.288000	0.22398	0.292000	0.19580	CGC		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		29	72	0	0	0	1	0	29	72				
OPN1LW	5956	broad.mit.edu	37	X	153416330	153416330	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	ENST00000369951.4	+	2	375	c.315C>T	c.(313-315)atC>atT	p.I105I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	105					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(313-315)atC>atT		opsin 1 (cone pigments), long-wave-sensitive							111.0	110.0	111.0					X																	153416330		2159	4260	6419	SO:0001819	synonymous_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416330C>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.315C>T	X.37:g.153416330C>T						OPN1LW_ENST00000463296.1_3'UTR	p.I105I	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			2	375	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		105						Silent	SNP	ENST00000369951.4	37	c.315C>T	CCDS14742.1																																																																																				0.597	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		25	98	0	0	0	1	0	25	98				
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1072-1074)Gcc>Acc		CLPTM1-like							81.0	72.0	75.0					5																	1330403		2202	4298	6500	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1330403C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1072G>A	5.37:g.1330403C>T	ENSP00000313854:p.Ala358Thr					CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	p.A358T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	9	1329	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		358					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1072G>A	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219203	0.22373	.	.	ENSG00000049656	ENST00000320895	T	0.44083	0.93	4.84	3.96	0.45880	.	0.395244	0.28398	N	0.015481	T	0.32496	0.0831	L	0.38175	1.15	0.80722	D	1	B	0.21688	0.059	B	0.24269	0.052	T	0.25328	-1.0135	10	0.72032	D	0.01	-35.5471	9.132	0.36850	0.0:0.8255:0.0:0.1745	.	358	Q96KA5	CLP1L_HUMAN	T	358	ENSP00000313854:A358T	ENSP00000313854:A358T	A	-	1	0	CLPTM1L	1383403	0.603000	0.26924	0.801000	0.32222	0.004000	0.04260	1.059000	0.30517	2.213000	0.71641	0.655000	0.94253	GCC		0.622	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		10	77	0	0	0	1	0	10	77				
TLR10	81793	broad.mit.edu	37	4	38776590	38776590	+	Missense_Mutation	SNP	G	G	A	rs376747590		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	ENST00000308973.4	-	4	1227	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_ENST00000508334.1_Missense_Mutation_p.R208C|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.R208C|TLR10_ENST00000506111.1_Missense_Mutation_p.R208C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	208					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20859	0.0		0.0	False		,,,				2504	0.0					ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(622-624)Cgt>Tgt		toll-like receptor 10		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	75.0	76.0	76.0		622,622,622,580,622	-3.4	0.1	4		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	208/812,208/812,208/812,194/798,208/812	38776590	1,13005	2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776590G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.622C>T	4.37:g.38776590G>A	ENSP00000308925:p.Arg208Cys					TLR10_ENST00000508334.1_Missense_Mutation_p.R208C|TLR10_ENST00000506111.1_Missense_Mutation_p.R208C|TLR10_ENST00000361424.2_Missense_Mutation_p.R208C	p.R208C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1227	-			208					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.622C>T	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	3.338	-0.135228	0.06711	0.0	1.16E-4	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.0	-3.42	0.04825	.	1.085760	0.07142	N	0.847617	T	0.65760	0.2722	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45600	-0.9250	10	0.32370	T	0.25	.	1.8906	0.03247	0.4923:0.1142:0.1633:0.2302	.	208	Q9BXR5	TLR10_HUMAN	C	208	ENSP00000308925:R208C;ENSP00000421483:R208C;ENSP00000354459:R208C;ENSP00000424923:R208C	ENSP00000308925:R208C	R	-	1	0	TLR10	38452985	0.000000	0.05858	0.065000	0.19835	0.869000	0.49853	-2.839000	0.00738	-0.814000	0.04352	-0.309000	0.09137	CGT		0.338	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			8	80	0	0	0	1	0	8	80				
DISP2	85455	broad.mit.edu	37	15	40656103	40656103	+	Missense_Mutation	SNP	C	C	A	rs150939222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:40656103C>A	ENST00000267889.3	+	2	484	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	133					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCCTCACAGCGCGATGGGAC	0.657																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(397-399)Cgc>Agc		dispatched homolog 2 (Drosophila)							43.0	46.0	45.0					15																	40656103		2203	4299	6502	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40656103C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.397C>A	15.37:g.40656103C>A	ENSP00000267889:p.Arg133Ser						p.R133S	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	484	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	133					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.397C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	5.356	0.251018	0.10130	.	.	ENSG00000140323	ENST00000267889	T	0.11277	2.79	5.17	0.78	0.18556	.	0.879841	0.10004	N	0.728077	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.45498	-0.9257	10	0.12430	T	0.62	2.0E-4	2.4678	0.04557	0.2615:0.4618:0.1179:0.1589	.	133	A7MBM2	DISP2_HUMAN	S	133	ENSP00000267889:R133S	ENSP00000267889:R133S	R	+	1	0	DISP2	38443395	0.823000	0.29233	0.307000	0.25127	0.861000	0.49209	1.386000	0.34419	0.333000	0.23563	-0.253000	0.11424	CGC		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		6	45	1	0	0.0215528	1	0.0218651	6	45				
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	T	rs201795798		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	ENST00000601142.1	+	5	1160	c.923G>T	c.(922-924)aGa>aTa	p.R308I	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R227I|ZNF30_ENST00000439785.1_Missense_Mutation_p.R309I|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309I			P17039	ZNF30_HUMAN	zinc finger protein 30	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(925-927)aGa>aTa		zinc finger protein 30		G	ILE/ARG,ILE/ARG,ILE/ARG	7,4397	12.9+/-30.5	0,7,2195	78.0	86.0	83.0		926,926,923	1.1	0.0	19		83	0,8598		0,0,4299	yes	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	97,97,97	0,7,6494	TT,TG,GG		0.0,0.1589,0.0538	probably-damaging,probably-damaging,probably-damaging	309/625,309/625,308/624	35434793	7,12995	2202	4299	6501	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434793G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.923G>T	19.37:g.35434793G>T	ENSP00000469954:p.Arg308Ile					ZNF30_ENST00000601142.1_Missense_Mutation_p.R308I|ZNF30_ENST00000426813.2_Missense_Mutation_p.R227I|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309I	p.R309I	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1370	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		308					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.926G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.836748	0.32421	0.001589	0.0	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.24908	1.83;1.83	2.23	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	M	0.67625	2.065	0.36913	D	0.890983	P;P	0.50156	0.932;0.855	B;B	0.38921	0.187;0.285	T	0.19321	-1.0309	9	0.59425	D	0.04	.	4.3143	0.10986	0.359:0.0:0.641:0.0	.	309;308	P17039-2;P17039	.;ZNF30_HUMAN	I	309;308;227;45	ENSP00000403441:R309I;ENSP00000416457:R227I	ENSP00000303889:R308I	R	+	2	0	ZNF30	40126633	0.000000	0.05858	0.003000	0.11579	0.085000	0.17905	-0.040000	0.12104	0.265000	0.21872	0.404000	0.27445	AGA		0.448	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		33	64	1	0	1.36161e-19	1	1.6019e-19	33	64				
WFIKKN2	124857	broad.mit.edu	37	17	48917362	48917362	+	Missense_Mutation	SNP	G	G	A	rs370465261		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	ENST00000311378.4	+	2	1241	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(712-714)cGg>cAg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							87.0	87.0	87.0					17																	48917362		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917362G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.713G>A	17.37:g.48917362G>A	ENSP00000311184:p.Arg238Gln					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145Q	p.R238Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1241	+			238			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.713G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675052	0.47781	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.64991	-0.13;-0.13	5.44	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.400107	0.25500	N	0.030250	T	0.39489	0.1080	N	0.21142	0.635	0.37403	D	0.912912	P	0.41929	0.765	B	0.37198	0.243	T	0.37798	-0.9690	10	0.27082	T	0.32	.	4.2886	0.10867	0.1718:0.2215:0.6067:0.0	.	238	Q8TEU8	WFKN2_HUMAN	Q	145;238	ENSP00000405889:R145Q;ENSP00000311184:R238Q	ENSP00000311184:R238Q	R	+	2	0	WFIKKN2	46272361	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	1.855000	0.39378	2.533000	0.85409	0.651000	0.88453	CGG		0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		7	41	0	0	0	1	0	7	41				
CACNA1E	777	broad.mit.edu	37	1	181684510	181684510	+	Missense_Mutation	SNP	G	G	A	rs191210738		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	ENST00000367573.2	+	9	1208	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G403E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G403E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G403E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G10E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	403					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1207-1209)gGa>gAa		calcium channel, voltage-dependent, R type, alpha 1E subunit							56.0	54.0	55.0					1																	181684510		1850	4114	5964	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181684510G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1208G>A	1.37:g.181684510G>A	ENSP00000356545:p.Gly403Glu					CACNA1E_ENST00000358338.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G10E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G403E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G403E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G403E	p.G403E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			9	1373	+			403					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1208G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689479	0.29962	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D;D	0.96168	-3.3;-3.3;-3.3;-3.3;-3.3;-3.93;-3.3;-3.3	5.36	5.36	0.76844	.	.	.	.	.	D	0.89795	0.6818	N	0.16307	0.4	0.80722	D	1	P;P	0.36144	0.539;0.539	B;B	0.36134	0.218;0.218	D	0.88030	0.2774	9	0.02654	T	1	.	19.0518	0.93050	0.0:0.0:1.0:0.0	.	403;403	Q15878-2;Q15878-3	.;.	E	403;403;403;354;354;10;403;403	ENSP00000432038:G403E;ENSP00000356542:G403E;ENSP00000434814:G403E;ENSP00000350183:G354E;ENSP00000351101:G354E;ENSP00000356539:G10E;ENSP00000353222:G403E;ENSP00000356545:G403E	ENSP00000350183:G354E	G	+	2	0	CACNA1E	179951133	1.000000	0.71417	0.310000	0.25168	0.903000	0.53119	6.841000	0.75374	2.673000	0.90976	0.650000	0.86243	GGA		0.373	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	12	0	0	0	1	0	4	12				
PARL	55486	broad.mit.edu	37	3	183580581	183580581	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	ENST00000317096.4	-	4	531	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_ENST00000435888.1_Silent_p.K157K|PARL_ENST00000311101.5_Silent_p.K157K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	157					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(469-471)aaG>aaA		presenilin associated, rhomboid-like							108.0	95.0	100.0					3																	183580581		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183580581C>T	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.471G>A	3.37:g.183580581C>T						PARL_ENST00000311101.5_Silent_p.K157K|PARL_ENST00000435888.1_Silent_p.K157K	p.K157K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		4	531	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		157					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.471G>A	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021044	0.19433	.	.	ENSG00000175193	ENST00000449306	.	.	.	5.45	4.51	0.55191	.	.	.	.	.	T	0.61476	0.2350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57774	-0.7753	4	.	.	.	-19.1355	10.6799	0.45809	0.1449:0.7143:0.1408:0.0	.	.	.	.	M	71	.	.	V	-	1	0	PARL	185063275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.931000	0.28871	2.690000	0.91761	0.557000	0.71058	GTG		0.393	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		4	46	0	0	0	1	0	4	46				
XK	7504	broad.mit.edu	37	X	37553613	37553613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	ENST00000378616.3	+	2	523	c.320G>A	c.(319-321)aGg>aAg	p.R107K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	107					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(319-321)aGg>aAg		X-linked Kx blood group (McLeod syndrome)							83.0	65.0	71.0					X																	37553613		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553613G>A	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.320G>A	X.37:g.37553613G>A	ENSP00000367879:p.Arg107Lys					TM4SF2_ENST00000465127.1_Intron	p.R107K	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			2	523	+		all_lung(315;0.175)	107					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.320G>A	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233097	0.22626	.	.	ENSG00000047597	ENST00000378616	T	0.63580	-0.05	6.04	5.17	0.71159	.	0.050626	0.85682	D	0.000000	T	0.38746	0.1052	N	0.13235	0.315	0.36023	D	0.838864	B	0.21688	0.059	B	0.19666	0.026	T	0.38394	-0.9663	10	0.02654	T	1	-17.4265	11.0032	0.47618	0.1461:0.0:0.8539:0.0	.	107	P51811	XK_HUMAN	K	107	ENSP00000367879:R107K	ENSP00000367879:R107K	R	+	2	0	XK	37438552	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.321000	0.59209	2.555000	0.86185	0.513000	0.50165	AGG		0.468	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		7	23	0	0	0	1	0	7	23				
ITPRIPL2	162073	broad.mit.edu	37	16	19126381	19126381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	ENST00000381440.3	+	1	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	200						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(598-600)Gcc>Tcc		inositol 1,4,5-trisphosphate receptor interacting protein-like 2							11.0	15.0	14.0					16																	19126381		2151	4220	6371	SO:0001583	missense	162073					integral to membrane		g.chr16:19126381G>T		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.598G>T	16.37:g.19126381G>T	ENSP00000370849:p.Ala200Ser		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	CTD-2349B8.1_ENST00000564808.2_Intron	p.A200S	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1128	+			200						Missense_Mutation	SNP	ENST00000381440.3	37	c.598G>T	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	G	1.975	-0.435582	0.04669	.	.	ENSG00000205730	ENST00000381440	T	0.13778	2.56	4.78	2.58	0.30949	.	1.015130	0.07950	U	0.980705	T	0.08980	0.0222	N	0.14661	0.345	0.26281	N	0.978279	B	0.27823	0.19	B	0.29267	0.1	T	0.37731	-0.9693	10	0.15499	T	0.54	-3.432	10.6214	0.45483	0.0871:0.1461:0.7668:0.0	.	200	Q3MIP1	IPIL2_HUMAN	S	200	ENSP00000370849:A200S	ENSP00000370849:A200S	A	+	1	0	ITPRIPL2	19033882	0.530000	0.26330	0.200000	0.23457	0.062000	0.15995	1.571000	0.36450	0.960000	0.38005	0.563000	0.77884	GCC		0.706	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		11	28	1	0	7.03913e-09	1	7.69904e-09	11	28				
IFNA5	3442	broad.mit.edu	37	9	21304957	21304957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	ENST00000259555.4	-	1	355	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	100					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483																																						ENST00000259555.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(298-300)tGg>tTg		interferon, alpha 5							122.0	114.0	116.0					9																	21304957		2203	4300	6503	SO:0001583	missense	3442				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21304957C>A		CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.299G>T	9.37:g.21304957C>A	ENSP00000259555:p.Trp100Leu						p.W100L	NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN		Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	355	-			100					Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	c.299G>T	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213056	0.58452	.	.	ENSG00000147873	ENST00000259555	T	0.20463	2.07	4.16	4.16	0.48862	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	H	0.96208	3.785	0.34255	D	0.679228	B	0.32543	0.375	P	0.55161	0.77	T	0.74797	-0.3543	10	0.66056	D	0.02	.	13.7771	0.63059	0.0:1.0:0.0:0.0	.	100	P01569	IFNA5_HUMAN	L	100	ENSP00000259555:W100L	ENSP00000259555:W100L	W	-	2	0	IFNA5	21294957	1.000000	0.71417	0.279000	0.24732	0.052000	0.14988	4.361000	0.59461	2.052000	0.61016	0.537000	0.68136	TGG		0.483	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		39	225	1	0	8.73648e-17	1	1.01083e-16	39	225				
PRAMEF2	65122	broad.mit.edu	37	1	12918902	12918902	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	ENST00000240189.2	+	2	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(37-39)gCg>gAg		PRAME family member 2							85.0	96.0	93.0					1																	12918902		2201	4297	6498	SO:0001583	missense	65122							g.chr1:12918902C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.38C>A	1.37:g.12918902C>A	ENSP00000240189:p.Ala13Glu						p.A13E	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	125	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	13						Missense_Mutation	SNP	ENST00000240189.2	37	c.38C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	c	10.98	1.503531	0.26949	.	.	ENSG00000120952	ENST00000240189	T	0.05855	3.38	0.842	-0.292	0.12839	.	0.149522	0.46145	D	0.000314	T	0.20047	0.0482	M	0.89353	3.025	0.09310	N	1	D	0.76494	0.999	D	0.67725	0.953	T	0.06373	-1.0830	10	0.87932	D	0	.	3.3578	0.07176	0.0:0.6655:0.0:0.3345	.	13	O60811	PRAM2_HUMAN	E	13	ENSP00000240189:A13E	ENSP00000240189:A13E	A	+	2	0	PRAMEF2	12841489	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.554000	0.06006	-0.108000	0.12066	0.194000	0.17425	GCG		0.567	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		27	160	1	0	1.75199e-13	1	1.96222e-13	27	160				
FAM208A	23272	broad.mit.edu	37	3	56667651	56667651	+	Silent	SNP	C	C	T	rs61758809	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:56667651C>T	ENST00000493960.2	-	18	3178	c.3168G>A	c.(3166-3168)gaG>gaA	p.E1056E	FAM208A_ENST00000355628.5_Silent_p.E995E|FAM208A_ENST00000431842.2_Silent_p.E619E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1056							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTTCATCTTCTCTTGTGTTG	0.358													C|||	6	0.00119808	0.0	0.0014	5008	,	,		22190	0.0		0.005	False		,,,				2504	0.0					ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1855-1857)gaG>gaA		family with sequence similarity 208, member A		C	,	1,4405	2.1+/-5.4	0,1,2202	110.0	120.0	116.0		3168,1857	4.7	1.0	3	dbSNP_129	116	33,8567	22.8+/-68.1	0,33,4267	no	coding-synonymous,coding-synonymous	FAM208A	NM_001112736.1,NM_015224.3	,	0,34,6469	TT,TC,CC		0.3837,0.0227,0.2614	,	1056/1513,619/1234	56667651	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	23272							g.chr3:56667651C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3168G>A	3.37:g.56667651C>T						FAM208A_ENST00000355628.5_Silent_p.E995E|FAM208A_ENST00000493960.2_Silent_p.E1056E	p.E619E	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	2781	-			1056					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.1857G>A	CCDS46853.1																																																																																				0.358	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		5	67	0	0	0	1	0	5	67				
NFATC4	4776	broad.mit.edu	37	14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	ENST00000250373.4	+	2	1001	c.860G>A	c.(859-861)cGt>cAt	p.R287H	NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H|NFATC4_ENST00000413692.2_Missense_Mutation_p.R350H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287	2 approximate SP repeats.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1048-1050)cGt>cAt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							15.0	18.0	17.0					14																	24839464		2195	4282	6477	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839464G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.860G>A	14.37:g.24839464G>A	ENSP00000250373:p.Arg287His					NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287H|NFATC4_ENST00000440487.2_3'UTR	p.R350H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	1193	+			287					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1049G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917416	0.73098	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000003	T	0.34542	0.0901	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;1.0;1.0;0.997;0.997;0.997;0.997;1.0;0.998;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.91635	0.748;0.871;0.999;0.871;0.999;0.999;0.871;0.871;0.871;0.871;0.999;0.813;0.999;0.998	T	0.06954	-1.0798	10	0.72032	D	0.01	-3.7082	14.5485	0.68050	0.0:0.0:1.0:0.0	.	275;275;319;319;300;300;300;350;350;275;319;264;350;287	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	350;350;300;300;300;319;319;319;287;287;287;217;217;217;275;217;275;275	ENSP00000388910:R350H;ENSP00000452039:R350H;ENSP00000451224:R300H;ENSP00000450644:R300H;ENSP00000388668:R300H;ENSP00000439350:R319H;ENSP00000452270:R319H;ENSP00000451502:R319H;ENSP00000451151:R287H;ENSP00000250373:R287H;ENSP00000450590:R287H;ENSP00000452349:R217H;ENSP00000450469:R217H;ENSP00000450733:R217H;ENSP00000451454:R275H;ENSP00000451284:R217H;ENSP00000396788:R275H;ENSP00000450686:R275H	ENSP00000250373:R287H	R	+	2	0	NFATC4	23909304	0.850000	0.29656	0.920000	0.36463	0.981000	0.71138	2.084000	0.41625	2.368000	0.80403	0.467000	0.42956	CGT		0.706	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		18	19	0	0	0	1	0	18	19				
CSH1	1442	broad.mit.edu	37	17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	rs139446025		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	ENST00000316193.8	-	5	751	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CSH1_ENST00000453363.3_Missense_Mutation_p.R109C|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	204						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver syndrome																													ENST00000316193.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(610-612)Cgc>Tgc		chorionic somatomammotropin hormone 1 (placental lactogen)		G	CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	91.0	83.0	86.0		610	1.5	1.0	17	dbSNP_134	86	0,8596		0,0,4298	no	missense	CSH1	NM_001317.5	180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		204/218	61972426	1,12993	2199	4298	6497	SO:0001583	missense	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972426G>A	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.610C>T	17.37:g.61972426G>A	ENSP00000316416:p.Arg204Cys					CSH1_ENST00000453363.3_Missense_Mutation_p.R109C|CSH1_ENST00000329882.8_3'UTR	p.R204C	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN			5	751	-			204					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.610C>T	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	g	6.993	0.553295	0.13374	2.27E-4	0.0	ENSG00000136488	ENST00000316193;ENST00000453363	T;D	0.91577	0.77;-2.87	2.56	1.52	0.23074	.	.	.	.	.	D	0.90065	0.6897	M	0.90977	3.165	0.42982	D	0.994467	B;P	0.47302	0.421;0.893	B;B	0.37943	0.21;0.261	D	0.88007	0.2760	9	0.72032	D	0.01	.	8.0172	0.30387	0.0:0.0:0.4077:0.5923	.	109;204	B1A4H2;Q6PF11	.;.	C	204;109	ENSP00000316416:R204C;ENSP00000402517:R109C	ENSP00000316416:R204C	R	-	1	0	CSH1	59326158	1.000000	0.71417	0.998000	0.56505	0.115000	0.19883	1.387000	0.34430	0.364000	0.24374	0.313000	0.20887	CGC		0.582	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		18	112	0	0	0	1	0	18	112				
HRH4	59340	broad.mit.edu	37	18	22056724	22056724	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	ENST00000256906.4	+	3	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	124					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TCTTATAGAACTCAACATACT	0.378																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(370-372)aCt>aGt		histamine receptor H4	Clozapine(DB00363)						139.0	134.0	135.0					18																	22056724		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22056724C>G	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.371C>G	18.37:g.22056724C>G	ENSP00000256906:p.Thr124Ser					HRH4_ENST00000426880.2_Intron	p.T124S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	471	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		124					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.371C>G	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491651	0.44249	.	.	ENSG00000134489	ENST00000256906	T	0.37584	1.19	5.79	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.791814	0.11840	N	0.524408	T	0.23171	0.0560	N	0.19112	0.55	0.19300	N	0.999974	B	0.14012	0.009	B	0.20384	0.029	T	0.17868	-1.0355	10	0.18276	T	0.48	-1.5347	10.9005	0.47049	0.2391:0.6386:0.1223:0.0	.	124	Q9H3N8	HRH4_HUMAN	S	124	ENSP00000256906:T124S	ENSP00000256906:T124S	T	+	2	0	HRH4	20310722	0.000000	0.05858	0.615000	0.29064	0.992000	0.81027	0.269000	0.18589	1.414000	0.47017	0.655000	0.94253	ACT		0.378	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			12	95	0	0	0	1	0	12	95				
CDH24	64403	broad.mit.edu	37	14	23523984	23523984	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	ENST00000267383.5	-	3	680	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_ENST00000487137.2_Silent_p.L196L|CDH24_ENST00000397359.3_Silent_p.L196L|CDH24_ENST00000554034.1_Silent_p.L196L			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(586-588)ctG>ctA		cadherin 24, type 2							79.0	72.0	74.0					14																	23523984		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523984C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.588G>A	14.37:g.23523984C>T			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000267383.5_Silent_p.L196L|CDH24_ENST00000487137.2_Silent_p.L196L|CDH24_ENST00000554034.1_Silent_p.L196L	p.L196L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	847	-	all_cancers(95;3.3e-05)		196			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.588G>A	CCDS9585.1																																																																																				0.597	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		12	24	0	0	0	1	0	12	24				
TENM1	10178	broad.mit.edu	37	X	123525989	123525989	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:123525989A>G	ENST00000371130.3	-	27	5643	c.5580T>C	c.(5578-5580)aaT>aaC	p.N1860N	TENM1_ENST00000422452.2_Silent_p.N1867N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1860					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1862K(1)									CCATTTTTTCATTCCACGTTC	0.393																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.N1862K(1)	cervix(1)								c.(5599-5601)aaT>aaC		teneurin transmembrane protein 1							95.0	76.0	82.0					X																	123525989		2203	4299	6502	SO:0001819	synonymous_variant	10178							g.chrX:123525989A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5580T>C	X.37:g.123525989A>G						TENM1_ENST00000371130.3_Silent_p.N1860N|STAG2_ENST00000469481.1_Intron	p.N1867N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5664	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5601T>C	CCDS14609.1																																																																																				0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		20	53	0	0	0	1	0	20	53				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	8	0	0	0	1	0	35	8				
USP20	10868	broad.mit.edu	37	9	132631651	132631651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	ENST00000315480.4	+	13	1497	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_ENST00000372429.3_Missense_Mutation_p.D447Y|USP20_ENST00000358355.1_Missense_Mutation_p.D447Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	447	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1339-1341)Gac>Tac		ubiquitin specific peptidase 20							89.0	100.0	96.0					9																	132631651		2128	4234	6362	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631651G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1339G>T	9.37:g.132631651G>T	ENSP00000313811:p.Asp447Tyr					USP20_ENST00000372429.3_Missense_Mutation_p.D447Y|USP20_ENST00000358355.1_Missense_Mutation_p.D447Y	p.D447Y			Q9Y2K6	UBP20_HUMAN			13	1497	+		Ovarian(14;0.00556)	447					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1339G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746781	0.89663	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.03468	3.92;3.92;3.92	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184411	0.56097	D	0.000027	T	0.22666	0.0547	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00899	-1.1522	10	0.87932	D	0	.	18.0352	0.89298	0.0:0.0:1.0:0.0	.	447	Q9Y2K6	UBP20_HUMAN	Y	447	ENSP00000361506:D447Y;ENSP00000313811:D447Y;ENSP00000351122:D447Y	ENSP00000313811:D447Y	D	+	1	0	USP20	131671472	1.000000	0.71417	0.949000	0.38748	0.955000	0.61496	9.405000	0.97313	2.497000	0.84241	0.655000	0.94253	GAC		0.652	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			45	134	1	0	3.05275e-18	1	3.56154e-18	45	134				
KIAA1522	57648	broad.mit.edu	37	1	33236713	33236713	+	Missense_Mutation	SNP	C	C	T	rs200907113		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	ENST00000373480.1	+	6	1859	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.R645C|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R597C	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1933-1935)Cgc>Tgc		KIAA1522							89.0	98.0	95.0					1																	33236713		1946	4126	6072	SO:0001583	missense	57648							g.chr1:33236713C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1756C>T	1.37:g.33236713C>T	ENSP00000362579:p.Arg586Cys					KIAA1522_ENST00000373481.3_Missense_Mutation_p.R597C|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R586C|KIAA1522_ENST00000294521.3_Intron	p.R645C	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2003	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	586			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1933C>T	CCDS55588.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.80	2.046054	0.36085	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13196	2.61;2.63;2.64	3.15	3.15	0.36227	.	0.000000	0.44097	D	0.000488	T	0.24851	0.0603	L	0.54323	1.7	0.41506	D	0.988315	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62382	0.858;0.858;0.901	T	0.00934	-1.1509	10	0.54805	T	0.06	-7.4498	8.4841	0.33061	0.0:0.7599:0.2401:0.0	.	597;586;645	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	C	645;597;586	ENSP00000383851:R645C;ENSP00000362580:R597C;ENSP00000362579:R586C	ENSP00000362579:R586C	R	+	1	0	KIAA1522	33009300	0.998000	0.40836	0.990000	0.47175	0.948000	0.59901	1.978000	0.40598	2.045000	0.60652	0.563000	0.77884	CGC		0.617	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			18	146	0	0	0	1	0	18	146				
BRPF1	7862	broad.mit.edu	37	3	9781283	9781283	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	ENST00000457855.1	+	2	1211	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_ENST00000383829.2_Silent_p.C400C|BRPF1_ENST00000302054.3_Silent_p.C400C|BRPF1_ENST00000433861.2_Silent_p.C400C|BRPF1_ENST00000424362.1_Silent_p.C400C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	400					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1198-1200)tgC>tgT		bromodomain and PHD finger containing, 1							65.0	65.0	65.0					3																	9781283		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781283C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1200C>T	3.37:g.9781283C>T						BRPF1_ENST00000433861.2_Silent_p.C400C|BRPF1_ENST00000457855.1_Silent_p.C400C|BRPF1_ENST00000424362.1_Silent_p.C400C|BRPF1_ENST00000302054.3_Silent_p.C400C	p.C400C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1604	+	Medulloblastoma(99;0.227)		400					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.1200C>T	CCDS2575.1																																																																																				0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		20	59	0	0	0	1	0	20	59				
CCT7	10574	broad.mit.edu	37	2	73466844	73466844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	ENST00000258091.5	+	2	221	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000539919.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	27					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488																																						ENST00000258091.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(79-81)aGt>aAt		chaperonin containing TCP1, subunit 7 (eta)							56.0	57.0	57.0					2																	73466844		1932	4136	6068	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73466844G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.80G>A	2.37:g.73466844G>A	ENSP00000258091:p.Ser27Asn					CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000538797.1_5'UTR	p.S27N	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN			2	221	+			27					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.80G>A	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	G	6.049	0.377437	0.11466	.	.	ENSG00000135624	ENST00000258091;ENST00000409081	T	0.11169	2.8	5.32	3.5	0.40072	.	0.085502	0.85682	D	0.000000	T	0.02230	0.0069	N	0.00738	-1.235	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36065	-0.9763	10	0.02654	T	1	-15.6538	6.1045	0.20065	0.1382:0.3285:0.5333:0.0	.	27;27	B8ZZC9;Q99832	.;TCPH_HUMAN	N	27	ENSP00000258091:S27N	ENSP00000258091:S27N	S	+	2	0	CCT7	73320352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.303000	0.51858	0.925000	0.37094	0.655000	0.94253	AGT		0.488	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			7	23	0	0	0	1	0	7	23				
BLZF1	8548	broad.mit.edu	37	1	169347582	169347582	+	Silent	SNP	A	A	G	rs370508450		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	ENST00000367808.3	+	4	906	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_ENST00000329281.2_Silent_p.L161L			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	161					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(481-483)ttA>ttG		basic leucine zipper nuclear factor 1							130.0	131.0	131.0					1																	169347582		2203	4300	6503	SO:0001819	synonymous_variant	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169347582A>G	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.483A>G	1.37:g.169347582A>G						BLZF1_ENST00000329281.2_Silent_p.L161L	p.L161L			Q9H2G9	GO45_HUMAN			4	906	+	all_hematologic(923;0.208)		161					O15298|Q5T531|Q5T533|Q9GZX4	Silent	SNP	ENST00000367808.3	37	c.483A>G	CCDS1278.1																																																																																				0.343	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		59	119	0	0	0	1	0	59	119				
DMBT1	1755	broad.mit.edu	37	10	124357525	124357525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	ENST00000338354.3	+	25	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_ENST00000344338.3_Missense_Mutation_p.V975I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V985I|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.V486I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V975I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V486I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	985					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2953-2955)Gta>Ata		deleted in malignant brain tumors 1							208.0	195.0	199.0					10																	124357525		1930	4125	6055	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124357525G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2953G>A	10.37:g.124357525G>A	ENSP00000342210:p.Val985Ile					DMBT1_ENST00000338354.3_Missense_Mutation_p.V985I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V975I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V486I|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.V975I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V486I	p.V985I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			25	3059	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	985					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2953G>A		.	.	.	.	.	.	.	.	.	.	G	0.337	-0.952922	0.02285	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.23552	1.94;1.93;1.9;1.94;1.93;1.9	1.35	-2.71	0.05986	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P;B;B;B	0.50943	0.94;0.005;0.071;0.0	P;B;B;B	0.44946	0.465;0.01;0.068;0.0	T	0.10200	-1.0640	9	0.30078	T	0.28	.	3.6482	0.08192	0.3678:0.393:0.2391:0.0	.	985;486;975;985	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	I	985;985;985;985;985;985;486;975;486;486;985;975;486	ENSP00000342210:V985I;ENSP00000343175:V975I;ENSP00000327747:V486I;ENSP00000357905:V985I;ENSP00000357951:V975I;ENSP00000357952:V486I	ENSP00000331522:V486I	V	+	1	0	DMBT1	124347515	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.475000	0.00119	-1.595000	0.01613	0.467000	0.42956	GTA		0.463	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		19	63	0	0	0	1	0	19	63				
FLT4	2324	broad.mit.edu	37	5	180043382	180043382	+	Silent	SNP	G	G	A	rs370856459		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	ENST00000261937.6	-	23	3282	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_ENST00000393347.3_Silent_p.Y1068Y|FLT4_ENST00000502649.1_Silent_p.Y1068Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1068	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20097	0.0		0.0	False		,,,				2504	0.0				Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3202-3204)taC>taT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)	G	,	1,4405	2.1+/-5.4	0,1,2202	117.0	105.0	109.0		3204,3204	-5.1	1.0	5		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	1068/1299,1068/1364	180043382	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043382G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3204C>T	5.37:g.180043382G>A						FLT4_ENST00000502649.1_Silent_p.Y1068Y|FLT4_ENST00000393347.3_Silent_p.Y1068Y	p.Y1068Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3282	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1068			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3204C>T	CCDS4457.1																																																																																				0.597	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			12	46	0	0	0	1	0	12	46				
PPP2R2C	5522	broad.mit.edu	37	4	6325273	6325273	+	Missense_Mutation	SNP	C	C	T	rs367696094		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	ENST00000382599.4	-	9	1316	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R350Q|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.R367Q			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	367					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(1099-1101)cGg>cAg		protein phosphatase 2, regulatory subunit B, gamma		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4403		0,1,2201	60.0	53.0	55.0		1079,1079,1049,1100	4.4	1.0	4		55	0,8600		0,0,4300	no	missense,missense,missense,missense	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	43,43,43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	360/441,360/441,350/431,367/448	6325273	1,13003	2202	4300	6502	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6325273C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1100G>A	4.37:g.6325273C>T	ENSP00000372042:p.Arg367Gln					PPP2R2C_ENST00000382599.4_Missense_Mutation_p.R367Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R350Q|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R360Q	p.R367Q	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			9	1123	-			367					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.1100G>A		.	.	.	.	.	.	.	.	.	.	C	28.3	4.906836	0.92107	2.27E-4	0.0	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.996;1.0	D;D;D;D	0.77004	0.938;0.917;0.938;0.989	T	0.67094	-0.5757	10	0.49607	T	0.09	-44.6121	16.2691	0.82606	0.0:1.0:0.0:0.0	.	360;367;350;367	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	Q	367;360;350;367;360	ENSP00000335083:R367Q;ENSP00000423649:R360Q;ENSP00000422374:R350Q;ENSP00000372042:R367Q;ENSP00000425247:R360Q	ENSP00000335083:R367Q	R	-	2	0	PPP2R2C	6376174	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.711000	0.74675	2.304000	0.77564	0.555000	0.69702	CGG		0.642	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		6	42	0	0	0	1	0	6	42				
MFSD6L	162387	broad.mit.edu	37	17	8701438	8701438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:8701438G>T	ENST00000329805.4	-	1	1229	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	334						integral component of membrane (GO:0016021)		p.A334V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CACCAGTAAGGCCAGGGTGCT	0.597																																						ENST00000329805.4																			1	Substitution - Missense(1)	p.A334V(1)	skin(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(1000-1002)gCc>gAc		major facilitator superfamily domain containing 6-like							65.0	64.0	64.0					17																	8701438		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701438G>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1001C>A	17.37:g.8701438G>T	ENSP00000330051:p.Ala334Asp						p.A334D	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	1229	-			334					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.1001C>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842172	0.51057	.	.	ENSG00000185156	ENST00000329805	D	0.81996	-1.56	5.3	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);	0.138558	0.48767	D	0.000180	D	0.85566	0.5726	M	0.67953	2.075	0.36182	D	0.849463	D	0.62365	0.991	P	0.62740	0.906	D	0.83699	0.0181	10	0.12766	T	0.61	-1.1675	8.4497	0.32862	0.079:0.2997:0.6213:0.0	.	334	Q8IWD5	MFS6L_HUMAN	D	334	ENSP00000330051:A334D	ENSP00000330051:A334D	A	-	2	0	MFSD6L	8642163	0.828000	0.29307	0.543000	0.28128	0.360000	0.29518	2.632000	0.46511	0.757000	0.33036	0.655000	0.94253	GCC		0.597	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		5	35	1	0	0.014758	1	0.0150812	5	35				
LPA	4018	broad.mit.edu	37	6	161027642	161027642	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	ENST00000316300.5	-	17	2696	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	LPA_ENST00000447678.1_Silent_p.P884P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2650-2652)ccT>ccC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						127.0	131.0	130.0					6																	161027642		2095	4272	6367	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027642A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2652T>C	6.37:g.161027642A>G						LPA_ENST00000316300.5_Silent_p.P884P	p.P884P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2772	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3392			Kringle 8.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2652T>C	CCDS43523.1																																																																																				0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		83	127	0	0	0	1	0	83	127				
TAF1L	138474	broad.mit.edu	37	9	32634394	32634394	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	ENST00000242310.4	-	1	1273	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	395					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1183-1185)gTg>gCg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							219.0	210.0	213.0					9																	32634394		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634394A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1184T>C	9.37:g.32634394A>G	ENSP00000418379:p.Val395Ala					RP11-555J4.4_ENST00000430787.1_RNA	p.V395A	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1273	-			395					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1184T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	4.419	0.077477	0.08485	.	.	ENSG00000122728	ENST00000242310	T	0.06849	3.25	0.479	0.479	0.16796	.	1.002070	0.08043	N	0.995466	T	0.02688	0.0081	N	0.02011	-0.69	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	9	0.08837	T	0.75	.	.	.	.	.	395	Q8IZX4	TAF1L_HUMAN	A	395	ENSP00000418379:V395A	ENSP00000418379:V395A	V	-	2	0	TAF1L	32624394	0.014000	0.17966	0.121000	0.21740	0.070000	0.16714	-0.077000	0.11394	0.426000	0.26116	0.164000	0.16699	GTG		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			42	223	0	0	0	1	0	42	223				
MTMR7	9108	broad.mit.edu	37	8	17218649	17218649	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	ENST00000180173.5	-	4	479	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	MTMR7_ENST00000521857.1_Missense_Mutation_p.S149C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	149	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(445-447)Agc>Tgc		myotubularin related protein 7							144.0	129.0	134.0					8																	17218649		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17218649T>A	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.445A>T	8.37:g.17218649T>A	ENSP00000180173:p.Ser149Cys					MTMR7_ENST00000521857.1_Missense_Mutation_p.S149C	p.S149C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	4	479	-			149			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.445A>T	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740747	0.49045	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.94897	-3.55;-3.55	5.48	5.48	0.80851	Myotubularin phosphatase domain (1);	0.082208	0.85682	D	0.000000	D	0.94473	0.8221	M	0.82132	2.575	0.80722	D	1	B	0.22211	0.066	B	0.26094	0.066	D	0.92692	0.6167	10	0.51188	T	0.08	.	15.8965	0.79338	0.0:0.0:0.0:1.0	.	149	Q9Y216	MTMR7_HUMAN	C	149	ENSP00000180173:S149C;ENSP00000429733:S149C	ENSP00000180173:S149C	S	-	1	0	MTMR7	17263020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.936000	0.56568	2.225000	0.72522	0.533000	0.62120	AGC		0.473	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		30	50	0	0	0	1	0	30	50				
ABCA7	10347	broad.mit.edu	37	19	1042063	1042063	+	Splice_Site	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	ENST00000263094.6	+	5	534	c.303G>A	c.(301-303)ctG>ctA	p.L101L	ABCA7_ENST00000433129.1_Splice_Site_p.L101L|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	101					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCCCAGGGTCTCCCGGC	0.711																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.e5-1		ATP-binding cassette, sub-family A (ABC1), member 7							6.0	8.0	8.0					19																	1042063		2144	4212	6356	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042063G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.303-1G>A	19.37:g.1042063G>A						ABCA7_ENST00000433129.1_Splice_Site_p.L101_splice	p.L101_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	534	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	101					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.302_splice	CCDS12055.1																																																																																				0.711	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Silent	3	11	0	0	0	1	0	3	11				
NKAP	79576	broad.mit.edu	37	X	119070601	119070601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	ENST00000371410.3	-	3	678	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	171					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(511-513)aGc>aTc		NFKB activating protein							91.0	89.0	90.0					X																	119070601		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070601C>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.512G>T	X.37:g.119070601C>A	ENSP00000360464:p.Ser171Ile					NKAP_ENST00000477789.1_5'UTR	p.S171I	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			3	678	-			171					Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.512G>T	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353323	0.41700	.	.	ENSG00000101882	ENST00000371410	T	0.15487	2.42	4.53	4.53	0.55603	.	0.268023	0.47852	D	0.000203	T	0.30070	0.0753	L	0.32530	0.975	0.54753	D	0.999985	D;D	0.71674	0.995;0.998	P;D	0.69142	0.88;0.962	T	0.02668	-1.1126	10	0.45353	T	0.12	-12.9429	16.0536	0.80779	0.0:1.0:0.0:0.0	.	171;171	Q8N5F7;A0PJ73	NKAP_HUMAN;.	I	171	ENSP00000360464:S171I	ENSP00000360464:S171I	S	-	2	0	NKAP	118954629	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	1.534000	0.36051	2.183000	0.69458	0.600000	0.82982	AGC		0.294	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		15	48	1	0	3.52763e-06	1	3.74143e-06	15	48				
CPT1B	1375	broad.mit.edu	37	22	51011381	51011381	+	Silent	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	ENST00000360719.2	-	11	1412	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_ENST00000312108.7_Silent_p.S425S|CPT1B_ENST00000395650.2_Silent_p.S425S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Silent_p.S425S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.S222S|CPT1B_ENST00000457250.1_Silent_p.S391S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	425					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1273-1275)tcC>tcG		carnitine palmitoyltransferase 1B (muscle)							122.0	116.0	118.0					22																	51011381		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011381G>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1275C>G	22.37:g.51011381G>C						CPT1B_ENST00000434492.2_Silent_p.S222S|CPT1B_ENST00000312108.7_Silent_p.S425S|CPT1B_ENST00000405237.3_Silent_p.S425S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S425S|CPT1B_ENST00000457250.1_Silent_p.S391S|CHKB-CPT1B_ENST00000453634.1_3'UTR	p.S425S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1412	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	425					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1275C>G	CCDS14098.1																																																																																				0.602	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		5	66	0	0	0	1	0	5	66				
APC	324	broad.mit.edu	37	5	112176714	112176714	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	ENST00000457016.1	+	16	5803	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.N1808T|APC_ENST00000257430.4_Missense_Mutation_p.N1808T			P25054	APC_HUMAN	adenomatous polyposis coli	1808	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(5422-5424)aAc>aCc		adenomatous polyposis coli							46.0	45.0	45.0					5																	112176714		2202	4297	6499	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176714A>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5423A>C	5.37:g.112176714A>C	ENSP00000413133:p.Asn1808Thr	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.N1808T|APC_ENST00000257430.4_Missense_Mutation_p.N1808T	p.N1808T			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5803	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1808			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5423A>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736594	0.30774	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90385	-2.66;-2.66;-2.66	6.07	2.33	0.28932	.	0.409279	0.25494	N	0.030296	T	0.79896	0.4525	N	0.19112	0.55	0.36041	D	0.84006	B;B	0.20671	0.047;0.02	B;B	0.16722	0.016;0.011	T	0.68819	-0.5308	9	.	.	.	-5.7016	7.088	0.25267	0.7453:0.1251:0.1296:0.0	.	1810;1808	Q4LE70;P25054	.;APC_HUMAN	T	1808	ENSP00000413133:N1808T;ENSP00000257430:N1808T;ENSP00000427089:N1808T	.	N	+	2	0	APC	112204613	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.650000	0.54424	0.167000	0.19631	0.528000	0.53228	AAC		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	36	0	0	0	1	0	7	36				
C19orf48	84798	broad.mit.edu	37	19	51301602	51301602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	ENST00000598463.1	-	5	1202	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.P35L|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000596655.1_Missense_Mutation_p.P35L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P35L|C19orf48_ENST00000595794.1_5'Flank			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642																																						ENST00000598463.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(103-105)cCa>cTa		chromosome 19 open reading frame 48							115.0	110.0	112.0					19																	51301602		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301602G>A	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.104C>T	19.37:g.51301602G>A	ENSP00000471463:p.Pro35Leu					C19orf48_ENST00000391812.1_Missense_Mutation_p.P35L|C19orf48_ENST00000596655.1_Missense_Mutation_p.P35L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P35L	p.P35L			Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1202	-		all_neural(266;0.057)	35						Missense_Mutation	SNP	ENST00000598463.1	37	c.104C>T	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	g	4.041	0.005134	0.07866	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.32753	1.44;1.44	2.32	-4.51	0.03483	.	0.766417	0.10664	N	0.648408	T	0.15132	0.0365	N	0.24115	0.695	0.09310	N	1	B	0.28850	0.225	B	0.31751	0.135	T	0.27571	-1.0070	10	0.87932	D	0	.	0.1709	0.00113	0.2488:0.1683:0.2423:0.3406	.	35	Q6RUI8	CS048_HUMAN	L	35	ENSP00000375688:P35L;ENSP00000301419:P35L	ENSP00000301419:P35L	P	-	2	0	C19orf48	55993414	0.003000	0.15002	0.006000	0.13384	0.011000	0.07611	-0.631000	0.05496	-1.026000	0.03330	-0.258000	0.10820	CCA		0.642	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		25	134	0	0	0	1	0	25	134				
PDK3	5165	broad.mit.edu	37	X	24545692	24545692	+	Splice_Site	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	ENST00000379162.4	+	8	987	c.752A>T	c.(751-753)aAc>aTc	p.N251I	PDK3_ENST00000441463.2_Splice_Site_p.N251I	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	251	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e8-1		pyruvate dehydrogenase kinase, isozyme 3							61.0	53.0	56.0					X																	24545692		2203	4300	6503	SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24545692A>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.751-1A>T	X.37:g.24545692A>T						PDK3_ENST00000379162.4_Splice_Site_p.N251_splice	p.N251_splice	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			8	752	+			251			Histidine kinase.		B4DXG6	Splice_Site	SNP	ENST00000379162.4	37	c.750_splice	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222013	0.79464	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	D;D	0.94650	-3.48;-3.48	4.8	4.8	0.61643	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	H	0.99962	5.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.98567	1.0644	10	0.87932	D	0	.	13.7467	0.62879	1.0:0.0:0.0:0.0	.	251;251	B4DXG6;Q15120	.;PDK3_HUMAN	I	251	ENSP00000368460:N251I;ENSP00000387536:N251I	ENSP00000368460:N251I	N	+	2	0	PDK3	24455613	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.608000	0.90895	1.889000	0.54706	0.417000	0.27973	AAC		0.363	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Missense_Mutation	4	19	0	0	0	1	0	4	19				
MAGEC2	51438	broad.mit.edu	37	X	141290652	141290652	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	ENST00000247452.3	-	3	1469	c.1122A>T	c.(1120-1122)tgA>tgT	p.*374C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	0					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(1120-1122)tgA>tgT		melanoma antigen family C, 2							101.0	84.0	90.0					X																	141290652		2203	4300	6503	SO:0001578	stop_lost	51438					cytoplasm|nucleus		g.chrX:141290652T>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1122A>T	X.37:g.141290652T>A		HNSCC(46;0.14)					p.*374C	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	1469	-	Acute lymphoblastic leukemia(192;6.56e-05)		0					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Nonstop_Mutation	SNP	ENST00000247452.3	37	c.1122A>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.599	-0.829807	0.02734	.	.	ENSG00000046774	ENST00000247452	.	.	.	1.2	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2198	0.10552	0.0:0.0:0.0:1.0	.	.	.	.	C	374	.	.	X	-	3	0	MAGEC2	141118318	0.006000	0.16342	0.004000	0.12327	0.038000	0.13279	0.081000	0.14823	0.726000	0.32339	0.376000	0.23039	TGA		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		20	73	0	0	0	1	0	20	73				
SULT2B1	6820	broad.mit.edu	37	19	49094920	49094920	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	ENST00000201586.2	+	4	656	c.478T>A	c.(478-480)Tcc>Acc	p.S160T	SULT2B1_ENST00000323090.4_Missense_Mutation_p.S145T|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(433-435)Tcc>Acc		sulfotransferase family, cytosolic, 2B, member 1							50.0	44.0	46.0					19																	49094920		2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49094920T>A	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.478T>A	19.37:g.49094920T>A	ENSP00000201586:p.Ser160Thr					SULT2B1_ENST00000201586.2_Missense_Mutation_p.S160T|SULT2B1_ENST00000594274.1_3'UTR	p.S145T	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	3	808	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	160					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.433T>A	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677258	0.29783	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.01725	4.67;4.67	4.49	4.49	0.54785	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000012	T	0.02888	0.0086	L	0.37750	1.13	0.31805	N	0.627914	P;B	0.43287	0.802;0.072	P;B	0.47864	0.559;0.104	T	0.43245	-0.9403	10	0.22706	T	0.39	.	12.0652	0.53583	0.0:0.0:0.0:1.0	.	145;160	O00204-2;O00204	.;ST2B1_HUMAN	T	160;145	ENSP00000201586:S160T;ENSP00000312880:S145T	ENSP00000201586:S160T	S	+	1	0	SULT2B1	53786732	0.359000	0.24955	0.995000	0.50966	0.858000	0.48976	0.556000	0.23438	1.801000	0.52704	0.533000	0.62120	TCC		0.612	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		3	23	0	0	0	1	0	3	23				
JMJD6	23210	broad.mit.edu	37	17	74716489	74716489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	ENST00000397625.4	-	5	1147	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000445478.2_Missense_Mutation_p.D345N	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	345	Ser-rich.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(1033-1035)Gac>Aac		jumonji domain containing 6							70.0	84.0	80.0					17																	74716489		2123	4246	6369	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74716489C>T	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1033G>A	17.37:g.74716489C>T	ENSP00000380750:p.Asp345Asn					JMJD6_ENST00000397625.4_Missense_Mutation_p.D345N|JMJD6_ENST00000585429.1_Intron	p.D345N	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			5	1236	-			345			Ser-rich.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.1033G>A	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196596	0.94960	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.39397	1.21	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.978;0.994	T	0.63994	-0.6511	9	0.15952	T	0.53	-25.9026	19.7047	0.96068	0.0:1.0:0.0:0.0	.	345;345	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	N	345	.	ENSP00000345857:D345N	D	-	1	0	JMJD6	72228084	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	7.603000	0.82811	2.655000	0.90218	0.650000	0.86243	GAC		0.582	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		10	75	0	0	0	1	0	10	75				
ACOT4	122970	broad.mit.edu	37	14	74060453	74060453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	ENST00000326303.4	+	2	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	169					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(505-507)Ggc>Agc		acyl-CoA thioesterase 4							85.0	83.0	84.0					14																	74060453		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060453G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.505G>A	14.37:g.74060453G>A	ENSP00000323071:p.Gly169Ser						p.G169S	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	759	+			169					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.505G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397486	0.83120	.	.	ENSG00000177465	ENST00000326303	T	0.37235	1.21	5.25	5.25	0.73442	.	0.104706	0.64402	D	0.000004	T	0.56001	0.1956	H	0.97240	3.965	0.80722	D	1	P	0.48589	0.912	B	0.37451	0.25	T	0.76830	-0.2814	10	0.72032	D	0.01	-11.3362	18.4245	0.90605	0.0:0.0:1.0:0.0	.	169	Q8N9L9	ACOT4_HUMAN	S	169	ENSP00000323071:G169S	ENSP00000323071:G169S	G	+	1	0	ACOT4	73130206	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.528000	0.73807	2.442000	0.82660	0.561000	0.74099	GGC		0.428	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		21	59	0	0	0	1	0	21	59				
TCHHL1	126637	broad.mit.edu	37	1	152060485	152060485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	ENST00000368806.1	-	2	199	c.135delT	c.(133-135)tttfs	p.F45fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	45							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(133-135)ttfs		trichohyalin-like 1							186.0	184.0	185.0					1																	152060485		2203	4300	6503	SO:0001589	frameshift_variant	126637						calcium ion binding	g.chr1:152060485delA		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.135delT	1.37:g.152060485delA	ENSP00000357796:p.Phe45fs						p.F45fs	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	199	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		45					B2RPK8|Q5VTJ9	Frame_Shift_Del	DEL	ENST00000368806.1	37	c.135delT	CCDS30857.1																																																																																				0.453	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		97	246						97	246	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			0							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			3	4						3	4	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	ENST00000376087.4	-	25	3868	c.3703delC	c.(3703-3705)caafs	p.Q1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.Q792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.Q1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3703-3705)aafs		ankyrin repeat domain 26							145.0	133.0	137.0					10																	27322258		1845	4105	5950	SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27322258delG	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3703delC	10.37:g.27322258delG	ENSP00000365255:p.Gln1235fs					ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.Q1251fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.Q792fs	p.Q1235fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			25	3868	-			1234					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	c.3703delC	CCDS41499.1																																																																																				0.318	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			12	75						12	75	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	3						3	3	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4162-4167)ataaaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5232_5233	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	151						7	151	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		7	314						7	314	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581321	24581321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	ENST00000319715.4	+	17	3742	c.3310delC	c.(3310-3312)ccafs	p.P1104fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.P1070fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1104	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3310-3312)cafs		retinoblastoma binding protein 6							43.0	41.0	42.0					16																	24581321		2197	4299	6496	SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581321delC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3310delC	16.37:g.24581321delC	ENSP00000317872:p.Pro1104fs					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.P1070fs	p.P1104fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3742	+			1104			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.3310delC	CCDS10621.1																																																																																				0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		20	30						20	30	---	---	---	---
KLF1	10661	broad.mit.edu	37	19	12996674	12996674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	ENST00000264834.4	-	2	410	c.370delG	c.(370-372)gctfs	p.A124fs	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	124	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746																																						ENST00000264834.4																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(370-372)ctfs		Kruppel-like factor 1 (erythroid)							2.0	2.0	2.0					19																	12996674		1460	3227	4687	SO:0001589	frameshift_variant	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12996674delC	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.370delG	19.37:g.12996674delC	ENSP00000264834:p.Ala124fs						p.A124fs	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	2	410	-		Hepatocellular(1079;0.137)	124			Pro-rich.		Q6PIJ5|Q92899	Frame_Shift_Del	DEL	ENST00000264834.4	37	c.370delG	CCDS12285.1																																																																																				0.746	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		2	4						2	4	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	ENST00000438936.2	-	3	1469_1471	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q420del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000317951.4_In_Frame_Del_p.Q642del|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1924-1926)del		NTPase, KAP family P-loop domain containing 1				80,72,3002		15,0,50,16,40,1456						2.5	0.9			7	8,143,6913		1,0,6,18,107,3400	no	codingComplex	NKPD1	NM_198478.3		16,0,56,34,147,4856	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1376,4.8193,2.9654				88,215,9915				SO:0001651	inframe_deletion	284353							g.chr19:45655769_45655771delCTG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260delCAG	19.37:g.45655778_45655780delCTG	ENSP00000401739:p.Gln420del					NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del	p.Q642del	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1923_1925	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	In_Frame_Del	DEL	ENST00000438936.2	37	c.1924_1926delCAG																																																																																					0.704	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		7	328						7	328	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118148199	118148199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	ENST00000371628.3	+	10	2035	c.2004delG	c.(2002-2004)atgfs	p.M668fs	LONRF3_ENST00000422289.2_Frame_Shift_Del_p.M412fs|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Frame_Shift_Del_p.M627fs	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	668	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAGCTCATGGGATTACATA	0.438																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1879-1881)atfs		LON peptidase N-terminal domain and ring finger 3							337.0	267.0	291.0					X																	118148199		2203	4300	6503	SO:0001589	frameshift_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118148199delG	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2004delG	X.37:g.118148199delG	ENSP00000360690:p.Met668fs					LONRF3_ENST00000422289.2_Frame_Shift_Del_p.M412fs|LONRF3_ENST00000304778.7_Frame_Shift_Del_p.M627fs|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.M668fs|LONRF3_ENST00000472173.1_3'UTR	p.M627fs			Q496Y0	LONF3_HUMAN			9	2044	+			668			Lon.		Q5JPN6|Q8NB00|Q9H647	Frame_Shift_Del	DEL	ENST00000371628.3	37	c.1881delG	CCDS35374.1																																																																																				0.438	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		59	245						59	245	---	---	---	---
