#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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	58	0	0	0	0.000602214	0	5	58				
COL6A2	1292	broad.mit.edu	37	21	47549370	47549370	+	Intron	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr21:47549370G>A	ENST00000300527.4	+	28	2565				COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.V908M|COL6A2_ENST00000357838.4_Missense_Mutation_p.V908M|COL6A2_ENST00000409416.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGACATCGTGGGGGACCC	0.687																																						ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2722-2724)Gtg>Atg		collagen, type VI, alpha 2							36.0	40.0	38.0					21																	47549370		2203	4300	6503	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549370G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2498G>A	21.37:g.47549370G>A						COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Missense_Mutation_p.V908M|COL6A2_ENST00000310645.5_3'UTR	p.V908M	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2804	+	Breast(49;0.245)		0			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2722G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135153	0.21123	.	.	ENSG00000142173	ENST00000357838;ENST00000397763	D;D	0.90324	-2.65;-2.65	4.37	3.4	0.38934	.	.	.	.	.	D	0.84070	0.5391	.	.	.	0.80722	D	1	B	0.15719	0.014	B	0.11329	0.006	T	0.75789	-0.3194	8	0.31617	T	0.26	.	8.9938	0.36039	0.127:0.0:0.873:0.0	.	908	P12110-2	.	M	908	ENSP00000350497:V908M;ENSP00000380870:V908M	ENSP00000350497:V908M	V	+	1	0	COL6A2	46373798	1.000000	0.71417	0.992000	0.48379	0.782000	0.44232	4.377000	0.59562	0.645000	0.30675	0.467000	0.42956	GTG		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			8	18	0	0	0	0.000274275	0	8	18				
NPAP1	23742	broad.mit.edu	37	15	24924397	24924397	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:24924397G>C	ENST00000329468.2	+	1	3857	c.3383G>C	c.(3382-3384)tGg>tCg	p.W1128S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1128					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGCACACATGGACAGAGAGA	0.478																																						ENST00000329468.2																			0											c.(3382-3384)tGg>tCg		nuclear pore associated protein 1							133.0	116.0	121.0					15																	24924397		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924397G>C	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.3383G>C	15.37:g.24924397G>C	ENSP00000333735:p.Trp1128Ser						p.W1128S	NM_018958.2	NP_061831.2					1	3857	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3383G>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.497869	0.26861	.	.	ENSG00000185823	ENST00000329468	T	0.09073	3.02	1.79	0.849	0.18972	.	.	.	.	.	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	P	0.44344	0.833	B	0.35182	0.197	T	0.37009	-0.9724	9	0.66056	D	0.02	.	4.1284	0.10138	0.2188:0.0:0.7812:0.0	.	1128	Q9NZP6	CO002_HUMAN	S	1128	ENSP00000333735:W1128S	ENSP00000333735:W1128S	W	+	2	0	C15orf2	22475490	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.240000	0.08952	0.321000	0.23259	0.313000	0.20887	TGG		0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		44	77	0	0	0	0.000781405	0	44	77				
UBE2B	7320	broad.mit.edu	37	5	133725924	133725924	+	Silent	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:133725924G>T	ENST00000265339.2	+	6	756	c.339G>T	c.(337-339)ctG>ctT	p.L113L	UBE2B_ENST00000511807.1_3'UTR	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	113					canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTCTGCTGGATGAACCGA	0.388								Rad6 pathway																														ENST00000265339.2																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(337-339)ctG>ctT	Rad6 pathway	ubiquitin-conjugating enzyme E2B							52.0	52.0	52.0					5																	133725924		2203	4300	6503	SO:0001819	synonymous_variant	7320				canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr5:133725924G>T	M74525	CCDS4174.1	5q31.1	2011-05-19	2011-05-19		ENSG00000119048	ENSG00000119048		"""Ubiquitin-conjugating enzymes E2"""	12473	protein-coding gene	gene with protein product		179095	"""ubiquitin-conjugating enzyme E2B (RAD6 homolog)"""			1559696	Standard	NM_003337		Approved	UBC2, HHR6B, RAD6B	uc003kzh.3	P63146	OTTHUMG00000129120	ENST00000265339.2:c.339G>T	5.37:g.133725924G>T						UBE2B_ENST00000511807.1_3'UTR	p.L113L	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	756	+			113					B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6	Silent	SNP	ENST00000265339.2	37	c.339G>T	CCDS4174.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127064	0.56721	.	.	ENSG00000119048	ENST00000506787;ENST00000507277	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.2601	15.0098	0.71542	0.0:0.0:0.8244:0.1756	.	.	.	.	X	138;102	.	ENSP00000426364:G138X	G	+	1	0	UBE2B	133753823	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.257000	0.58816	2.817000	0.96982	0.563000	0.77884	GGA		0.388	UBE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251166.2	NM_003337		4	38	1	0	0.000602214	0.000602214	0.00686244	4	38				
SH2B3	10019	broad.mit.edu	37	12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	ENST00000341259.2	+	6	1456	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	367	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CTGGTTCCACGGCCCCATCTC	0.622																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1099-1101)Ggc>Agc		SH2B adaptor protein 3							67.0	72.0	70.0					12																	111885211		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885211G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1099G>A	12.37:g.111885211G>A	ENSP00000345492:p.Gly367Ser					SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	p.G367S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1456	+			367			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1099G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403533	0.96051	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.73363	-0.74;-0.74	5.0	5.0	0.66597	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.89639	0.3861	10	0.66056	D	0.02	-39.2809	18.6561	0.91455	0.0:0.0:1.0:0.0	.	165;231;367	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	S	367;177;165	ENSP00000345492:G367S;ENSP00000440597:G165S	ENSP00000345492:G367S	G	+	1	0	SH2B3	110369594	1.000000	0.71417	0.978000	0.43139	0.923000	0.55619	9.364000	0.97136	2.482000	0.83794	0.462000	0.41574	GGC		0.622	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		23	52	0	0	0	0.000295444	0	23	52				
COBLL1	22837	broad.mit.edu	37	2	165579003	165579003	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	ENST00000392717.2	-	6	809	c.805A>G	c.(805-807)Att>Gtt	p.I269V	COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000375458.2_Missense_Mutation_p.I231V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	269						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(691-693)Att>Gtt		cordon-bleu WH2 repeat protein-like 1							53.0	59.0	57.0					2																	165579003		2200	4294	6494	SO:0001583	missense	22837							g.chr2:165579003T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.805A>G	2.37:g.165579003T>C	ENSP00000376478:p.Ile269Val					COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V|COBLL1_ENST00000392717.2_Missense_Mutation_p.I269V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V	p.I231V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			5	912	-			269					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.691A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.38|12.38	1.919261|1.919261	0.33908|0.33908	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871|ENST00000452626	D;D;D;D;D|.	0.91894|.	-2.91;-2.91;-2.86;-2.91;-2.93|.	5.88|5.88	3.42|3.42	0.39159|0.39159	Cordon-bleu domain (1);|.	0.464796|.	0.27340|.	N|.	0.019808|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.27053|0.27053	0.805|0.805	0.24548|0.24548	N|N	0.994031|0.994031	B;B;B|.	0.31026|.	0.304;0.304;0.128|.	B;B;B|.	0.26310|.	0.068;0.068;0.041|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.10377|.	T|.	0.69|.	-4.5218|-4.5218	1.4004|1.4004	0.02270|0.02270	0.1862:0.1084:0.1652:0.5403|0.1862:0.1084:0.1652:0.5403	.|.	269;297;269|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	V|C	231;231;269;269;297|233	ENSP00000364607:I231V;ENSP00000341360:I231V;ENSP00000387326:I269V;ENSP00000376478:I269V;ENSP00000194871:I297V|.	ENSP00000194871:I297V|.	I|Y	-|-	1|2	0|0	COBLL1|COBLL1	165287249|165287249	0.772000|0.772000	0.28567|0.28567	0.980000|0.980000	0.43619|0.43619	0.990000|0.990000	0.78478|0.78478	0.657000|0.657000	0.24963|0.24963	0.432000|0.432000	0.26286|0.26286	0.460000|0.460000	0.39030|0.39030	ATT|TAT		0.313	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		27	25	0	0	0	0.000339439	0	27	25				
MAGI2	9863	broad.mit.edu	37	7	77998517	77998517	+	Silent	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	ENST00000354212.4	-	7	1312	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_ENST00000535697.1_Silent_p.G190G|MAGI2_ENST00000522391.1_Silent_p.G353G|MAGI2_ENST00000536571.1_Silent_p.G185G|MAGI2_ENST00000419488.1_Silent_p.G353G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	353	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1057-1059)ggC>ggG		membrane associated guanylate kinase, WW and PDZ domain containing 2							59.0	60.0	60.0					7																	77998517		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77998517G>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1059C>G	7.37:g.77998517G>C						MAGI2_ENST00000535697.1_Silent_p.G190G|MAGI2_ENST00000536571.1_Silent_p.G185G|MAGI2_ENST00000419488.1_Silent_p.G353G|MAGI2_ENST00000522391.1_Silent_p.G353G	p.G353G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			7	1312	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	353			Interaction with DDN.|WW 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1059C>G	CCDS5594.1																																																																																				0.274	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		13	38	0	0	0	0.000219431	0	13	38				
CIC	23152	broad.mit.edu	37	19	42791815	42791815	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	ENST00000575354.2	+	5	741	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	CIC_ENST00000572681.2_Missense_Mutation_p.L1143Q|CIC_ENST00000160740.3_Missense_Mutation_p.L234Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I233_L234>M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Complex - deletion inframe(1)	p.I233_L234>M(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3427-3429)cTg>cAg		capicua transcriptional repressor							81.0	75.0	77.0					19																	42791815		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791815T>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.701T>A	19.37:g.42791815T>A	ENSP00000458663:p.Leu234Gln					CIC_ENST00000160740.3_Missense_Mutation_p.L234Q|CIC_ENST00000575354.2_Missense_Mutation_p.L234Q	p.L1143Q			Q96RK0	CIC_HUMAN			6	3496	+		Prostate(69;0.00682)	234			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3428T>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968947	0.53614	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88194	0.6371	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91613	0.5304	8	0.87932	D	0	-7.7195	11.626	0.51145	0.0:0.0:0.0:1.0	.	234	Q96RK0	CIC_HUMAN	Q	234	.	ENSP00000160740:L234Q	L	+	2	0	CIC	47483655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.560000	0.82277	1.853000	0.53794	0.454000	0.30748	CTG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			20	10	0	0	0	0.000295444	0	20	10				
CABLES1	91768	broad.mit.edu	37	18	20837289	20837289	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	ENST00000256925.7	+	10	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Silent_p.H355H|RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.H293H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	620					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(1858-1860)caC>caT		Cdk5 and Abl enzyme substrate 1							68.0	69.0	68.0					18																	20837289		1931	4127	6058	SO:0001819	synonymous_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20837289C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1860C>T	18.37:g.20837289C>T						RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000420687.2_Silent_p.H355H|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.H293H|TMEM241_ENST00000450466.2_Intron	p.H620H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			10	1860	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		620					B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	c.1860C>T	CCDS42417.1																																																																																				0.557	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		8	36	0	0	0	0.000442599	0	8	36				
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	ENST00000380659.3	+	3	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(565-567)tGt>tCt		toll-like receptor 7	Imiquimod(DB00724)						49.0	48.0	48.0					X																	12904193		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904193G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.566G>C	X.37:g.12904193G>C	ENSP00000370034:p.Cys189Ser						p.C189S	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	705	+			189					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.566G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146764	0.77888	.	.	ENSG00000196664	ENST00000380659	T	0.34275	1.37	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64537	-0.6384	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	189	Q9NYK1	TLR7_HUMAN	S	189	ENSP00000370034:C189S	ENSP00000370034:C189S	C	+	2	0	TLR7	12814114	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	9.799000	0.99117	2.252000	0.74401	0.589000	0.80489	TGT		0.383	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		27	47	0	0	0	0.00106085	0	27	47				
DMPK	1760	broad.mit.edu	37	19	46275947	46275947	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	ENST00000291270.4	-	10	1421	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000354227.5_Silent_p.H427H|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000600757.1_Silent_p.H437H|DMPK_ENST00000343373.4_Silent_p.H442H|DMPK_ENST00000458663.2_Silent_p.H427H|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000595361.1_5'Flank	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	432					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1309-1311)caC>caT		dystrophia myotonica-protein kinase							50.0	51.0	51.0					19																	46275947		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46275947G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1296C>T	19.37:g.46275947G>A						DMPK_ENST00000458663.2_Silent_p.H427H|DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000291270.4_Silent_p.H432H|DMPK_ENST00000354227.5_Silent_p.H427H|DMPK_ENST00000343373.4_Silent_p.H442H	p.H437H			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	9	1998	-		Ovarian(192;0.0308)|all_neural(266;0.112)	442					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1311C>T	CCDS12674.1																																																																																				0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		17	3	0	0	0	0.00188189	0	17	3				
MMEL1	79258	broad.mit.edu	37	1	2529663	2529663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	ENST00000378412.3	-	13	1416	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MMEL1_ENST00000288709.6_Nonsense_Mutation_p.R410*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	419						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTTCACTCGTGTGTCCTTG	0.582																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1228-1230)Cga>Tga		membrane metallo-endopeptidase-like 1							149.0	143.0	145.0					1																	2529663		2203	4300	6503	SO:0001587	stop_gained	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2529663G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1255C>T	1.37:g.2529663G>A	ENSP00000367668:p.Arg419*					MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R419*	p.R410*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	13	1468	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	419					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Nonsense_Mutation	SNP	ENST00000378412.3	37	c.1228C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661263	0.88154	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	4.75	3.84	0.44239	.	0.059955	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2718	11.6254	0.51142	0.0878:0.0:0.9122:0.0	.	.	.	.	X	262;410;419;262	.	ENSP00000288709:R410X	R	-	1	2	MMEL1	2519523	1.000000	0.71417	0.002000	0.10522	0.026000	0.11368	4.456000	0.60081	1.005000	0.39183	0.591000	0.81541	CGA		0.582	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		29	11	0	0	0	0.000409698	0	29	11				
TPM3	7170	broad.mit.edu	37	1	154145663	154145663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	ENST00000368530.2	-	4	584	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000368533.3_Missense_Mutation_p.I94T|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000330188.9_Missense_Mutation_p.I94T	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	131					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(280-282)aTt>aCt		tropomyosin 3							70.0	70.0	70.0					1																	154145663		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145663A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.392T>C	1.37:g.154145663A>G	ENSP00000357516:p.Ile131Thr					TPM3_ENST00000330188.9_Missense_Mutation_p.I94T|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368530.2_Missense_Mutation_p.I131T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T	p.I94T	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			3	333	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		130					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.281T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244106	0.59103	.	.	ENSG00000143549	ENST00000368533;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.91459	3.21	0.47276	D	0.999372	B;B;D;B;B;P;B	0.71674	0.28;0.069;0.998;0.013;0.007;0.491;0.134	P;B;D;B;B;P;B	0.80764	0.549;0.267;0.994;0.092;0.125;0.701;0.419	D	0.99758	1.1020	10	0.87932	D	0	-1.5229	16.3829	0.83481	1.0:0.0:0.0:0.0	.	28;94;130;94;94;94;94	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	T	94;94;70;94;131;4;94;94;131	ENSP00000357521:I94T;ENSP00000339035:I94T;ENSP00000339378:I70T;ENSP00000357520:I94T;ENSP00000271850:I131T;ENSP00000307712:I4T;ENSP00000357517:I94T;ENSP00000357518:I94T;ENSP00000357516:I131T	ENSP00000271850:I131T	I	-	2	0	TPM3	152412287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.268000	0.95675	2.271000	0.75665	0.459000	0.35465	ATT		0.433	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		16	34	0	0	0	0.000422831	0	16	34				
HDX	139324	broad.mit.edu	37	X	83616611	83616611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	ENST00000297977.5	-	5	1426	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_ENST00000506585.2_Missense_Mutation_p.R381S|HDX_ENST00000373177.2_Missense_Mutation_p.R439S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	439						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1315-1317)Cgc>Agc		highly divergent homeobox							53.0	41.0	45.0					X																	83616611		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83616611G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1315C>A	X.37:g.83616611G>T	ENSP00000297977:p.Arg439Ser					HDX_ENST00000506585.2_Missense_Mutation_p.R381S|HDX_ENST00000373177.2_Missense_Mutation_p.R439S	p.R439S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			5	1426	-			439					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1315C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160748	0.78226	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.99167	-5.51;-5.51;-5.51	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	L	0.55990	1.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99919	1.1240	10	0.87932	D	0	-29.3063	18.1973	0.89826	0.0:0.0:1.0:0.0	.	439	Q7Z353	HDX_HUMAN	S	439;381;439	ENSP00000297977:R439S;ENSP00000362272:R381S;ENSP00000423670:R439S	ENSP00000297977:R439S	R	-	1	0	HDX	83503267	1.000000	0.71417	0.956000	0.39512	0.875000	0.50365	7.477000	0.81069	2.235000	0.73313	0.544000	0.68410	CGC		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		14	19	1	0	1.05317e-09	0.000219431	1.2287e-08	14	19				
ACN9	57001	broad.mit.edu	37	7	96747045	96747045	+	Silent	SNP	C	C	A	rs199949264		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	ENST00000360382.4	+	1	11	c.10C>A	c.(10-12)Cgg>Agg	p.R4R	ACN9_ENST00000432641.2_Silent_p.R4R					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647																																						ENST00000432641.2																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10						c.(10-12)Cgg>Agg		ACN9 homolog (S. cerevisiae)							62.0	64.0	63.0					7																	96747045		2203	4300	6503	SO:0001819	synonymous_variant	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96747045C>A	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.10C>A	7.37:g.96747045C>A						ACN9_ENST00000360382.4_Silent_p.R4R	p.R4R	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN			1	1144	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		4						Silent	SNP	ENST00000360382.4	37	c.10C>A																																																																																					0.647	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		24	40	1	0	1.74807e-11	0.000339439	2.14138e-10	24	40				
CD22	933	broad.mit.edu	37	19	35832001	35832001	+	Silent	SNP	T	T	C	rs200102428	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	ENST00000085219.5	+	7	1533	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000270311.6_Silent_p.S369S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000536635.2_Silent_p.S401S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	489	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTTGTAATAGTTGGTGCTCGT	0.622																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1465-1467)agT>agC		CD22 molecule	OspA lipoprotein(DB00045)	T	,,,	0,4406		0,0,2203	90.0	81.0	84.0		1203,1467,936,1467	-9.9	0.0	19		84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	,,,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,,,	401/760,489/752,312/671,489/848	35832001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832001T>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1467T>C	19.37:g.35832001T>C						CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000536635.2_Silent_p.S401S|CD22_ENST00000270311.6_Silent_p.S369S	p.S489S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1533	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		489			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1467T>C	CCDS12457.1																																																																																				0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		4	40	0	0	0	0.00024832	0	4	40				
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(490-492)ccC>ccA		transmembrane protein 176A							61.0	61.0	61.0					7																	150500857		2203	4300	6503	SO:0001819	synonymous_variant	55365					integral to membrane		g.chr7:150500857C>A	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.492C>A	7.37:g.150500857C>A						TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P	p.P164P			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1073	+			164					D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	c.492C>A	CCDS5909.1																																																																																				0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		19	41	1	0	3.62473e-10	0.00188189	4.332e-09	19	41				
PSMD5	5711	broad.mit.edu	37	9	123586941	123586941	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	ENST00000210313.3	-	7	911	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(835-837)aaC>aaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							68.0	71.0	70.0					9																	123586941		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123586941G>T	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.837C>A	9.37:g.123586941G>T	ENSP00000210313:p.Asn279Lys					PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K	p.N279K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			7	911	-			279					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.837C>A	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413762	0.62511	.	.	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.27402	1.67;1.67	6.17	4.33	0.51752	Armadillo-type fold (1);	0.042539	0.85682	D	0.000000	T	0.46425	0.1392	M	0.78637	2.42	0.49915	D	0.999837	D;D	0.54601	0.967;0.967	P;D	0.63113	0.904;0.911	T	0.53415	-0.8442	10	0.06236	T	0.91	.	10.8103	0.46543	0.2027:0.0:0.7973:0.0	.	236;279	B4DZM8;Q16401	.;PSMD5_HUMAN	K	279;236;50	ENSP00000210313:N279K;ENSP00000363011:N236K	ENSP00000210313:N279K	N	-	3	2	PSMD5	122626762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	1.616000	0.50265	0.655000	0.94253	AAC		0.388	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		26	40	1	0	1.5548e-18	0.000878237	1.95347e-17	26	40				
CAPNS2	84290	broad.mit.edu	37	16	55600782	55600782	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	ENST00000457326.2	+	1	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	38	Gly-rich.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507																																						ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(112-114)ggA>ggG		calpain, small subunit 2							94.0	90.0	92.0					16																	55600782		1929	4132	6061	SO:0001819	synonymous_variant	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55600782A>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.114A>G	16.37:g.55600782A>G						LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.G38G	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	199	+			38			Gly-rich.		Q9BPV4	Silent	SNP	ENST00000457326.2	37	c.114A>G	CCDS54010.1																																																																																				0.507	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		3	28	0	0	0	0.00024832	0	3	28				
EXD1	161829	broad.mit.edu	37	15	41476577	41476577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	ENST00000314992.5	-	10	1287	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	EXD1_ENST00000458580.2_Missense_Mutation_p.P424L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	366							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(1096-1098)cCa>cTa		exonuclease 3'-5' domain containing 1							116.0	126.0	123.0					15																	41476577		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476577G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1097C>T	15.37:g.41476577G>A	ENSP00000321029:p.Pro366Leu					EXD1_ENST00000458580.2_Missense_Mutation_p.P424L	p.P366L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			10	1287	-			366					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.1097C>T	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350825	0.41599	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.44482	0.92;0.94	5.25	2.29	0.28610	.	0.203877	0.32081	N	0.006615	T	0.34019	0.0883	L	0.55103	1.725	0.09310	N	1	B;B;B	0.27997	0.003;0.003;0.197	B;B;B	0.28465	0.003;0.003;0.09	T	0.34079	-0.9843	10	0.87932	D	0	-19.7425	5.7117	0.17938	0.1717:0.0:0.6669:0.1614	.	424;366;164	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	L	366;424	ENSP00000321029:P366L;ENSP00000415056:P424L	ENSP00000321029:P366L	P	-	2	0	EXD1	39263869	0.585000	0.26774	0.021000	0.16686	0.799000	0.45148	1.269000	0.33074	0.852000	0.35287	0.655000	0.94253	CCA		0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		51	87	0	0	0	0.000781405	0	51	87				
GRIK4	2900	broad.mit.edu	37	11	120732708	120732708	+	Missense_Mutation	SNP	G	G	T	rs137906208	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	ENST00000527524.2	+	9	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_ENST00000527130.1_3'UTR|GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	262					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTGGATGATCGTGTCAACATC	0.483																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(784-786)cGt>cTt		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						227.0	220.0	222.0					11																	120732708		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120732708G>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.785G>T	11.37:g.120732708G>T	ENSP00000435648:p.Arg262Leu					GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L|GRIK4_ENST00000527130.1_3'UTR	p.R262L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	9	1072	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	262					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.785G>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979427	0.53827	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.81330	-1.48;-1.48	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	N	0.22421	0.69	0.54753	D	0.999989	B;B	0.10296	0.003;0.002	B;B	0.17722	0.005;0.019	T	0.68116	-0.5494	10	0.66056	D	0.02	.	20.0465	0.97608	0.0:0.0:1.0:0.0	.	262;262	A6H8K8;Q16099	.;GRIK4_HUMAN	L	262	ENSP00000435648:R262L;ENSP00000404063:R262L	ENSP00000404063:R262L	R	+	2	0	GRIK4	120237918	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.288000	0.65651	2.735000	0.93741	0.557000	0.71058	CGT		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		72	81	1	0	1.42382e-21	0.000781405	1.83598e-20	72	81				
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A	rs181143686	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11761	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7006-7008)tcC>tcT		piccolo presynaptic cytomatrix protein		G	,	2,3710		0,2,1854	103.0	104.0	104.0		7008,7008	-5.3	0.0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG		0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583261G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7008C>T	7.37:g.82583261G>A						PCLO_ENST00000333891.8_Silent_p.S2336S	p.S2336S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7345	-			2267			Poly-Pro.|Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.7008C>T	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		45	49	0	0	0	0.000509022	0	45	49				
USP37	57695	broad.mit.edu	37	2	219321847	219321847	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	ENST00000258399.3	-	24	3093	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_ENST00000454775.1_Missense_Mutation_p.V894G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G|USP37_ENST00000415516.1_Missense_Mutation_p.V800G	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	894	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2680-2682)gTt>gGt		ubiquitin specific peptidase 37							101.0	90.0	94.0					2																	219321847		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219321847A>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2681T>G	2.37:g.219321847A>C	ENSP00000258399:p.Val894Gly					USP37_ENST00000454775.1_Missense_Mutation_p.V894G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G|USP37_ENST00000415516.1_Missense_Mutation_p.V800G	p.V894G	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	24	3093	-		Renal(207;0.0915)	894					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2681T>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582159	0.86748	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.060878	0.64402	D	0.000004	T	0.61413	0.2345	M	0.61703	1.905	0.80722	D	1	D;D	0.62365	0.989;0.991	P;P	0.59825	0.787;0.864	T	0.66575	-0.5889	10	0.87932	D	0	-12.5741	14.0188	0.64541	1.0:0.0:0.0:0.0	.	800;894	Q86T82-2;Q86T82	.;UBP37_HUMAN	G	894;894;800;894	ENSP00000258399:V894G;ENSP00000393662:V894G;ENSP00000400902:V800G;ENSP00000396585:V894G	ENSP00000258399:V894G	V	-	2	0	USP37	219030091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	1.887000	0.54652	0.533000	0.62120	GTT		0.363	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		4	45	0	0	0	0.00024832	0	4	45				
POP1	10940	broad.mit.edu	37	8	99169863	99169863	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	ENST00000401707.2	+	16	2520	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_ENST00000349693.3_Silent_p.K813K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	813					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2437-2439)aaG>aaA		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							46.0	50.0	48.0					8																	99169863		2203	4298	6501	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99169863G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2439G>A	8.37:g.99169863G>A						POP1_ENST00000349693.3_Silent_p.K813K	p.K813K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	2520	+	Breast(36;1.78e-06)		813					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.2439G>A	CCDS6277.1																																																																																				0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		6	55	0	0	0	0.000157383	0	6	55				
DOCK8	81704	broad.mit.edu	37	9	368171	368171	+	Intron	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:368171G>C	ENST00000453981.1	+	15	1909				DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000382329.1_Silent_p.G23G|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000382331.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCAAATCAGGGTGGGCTGCTC	0.502																																						ENST00000382329.1																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(67-69)ggG>ggC		dedicator of cytokinesis 8							103.0	85.0	91.0					9																	368171		2203	4300	6503	SO:0001627	intron_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368171G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1797+36G>C	9.37:g.368171G>C						DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	p.G23G			Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	2	456	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	0					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.69G>C	CCDS6440.2																																																																																				0.502	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		41	23	0	0	0	0.00195071	0	41	23				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	45	0	0	0	0.00170553	0	35	45				
GGT7	2686	broad.mit.edu	37	20	33439058	33439058	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	ENST00000336431.5	-	13	1745	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	567					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1699-1701)gcG>gcA		gamma-glutamyltransferase 7							45.0	47.0	46.0					20																	33439058		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33439058C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1701G>A	20.37:g.33439058C>T						GGT7_ENST00000469018.1_5'UTR	p.A567A	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			13	1745	-			567					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1701G>A	CCDS13242.2																																																																																				0.637	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		10	29	0	0	0	0.000978159	0	10	29				
SMARCA4	6597	broad.mit.edu	37	19	11141525	11141525	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	ENST00000429416.3	+	26	3783	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1168	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTCCAGTCGGCAGACACTGT	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3502-3504)Gca>Cca		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							23.0	24.0	24.0					19																	11141525		2200	4297	6497	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141525G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3502G>C	19.37:g.11141525G>C	ENSP00000395654:p.Ala1168Pro					SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P	p.A1168P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3786	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1168			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3502G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636699	0.87760	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	H	0.99979	5.185	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97855	1.0277	10	0.87932	D	0	-20.4861	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1168;1168;1168;1168;1168;388;1168;1168	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	P	1168;1168;1232;1168;1168;1168;1168;1168	ENSP00000395654:A1168P;ENSP00000350720:A1168P;ENSP00000343896:A1168P;ENSP00000445036:A1168P;ENSP00000392837:A1168P;ENSP00000397783:A1168P;ENSP00000414727:A1168P	ENSP00000343896:A1168P	A	+	1	0	SMARCA4	11002525	1.000000	0.71417	0.475000	0.27278	0.782000	0.44232	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GCA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	8	0	0	0	6.4e-05	0	3	8				
TMEM131	23505	broad.mit.edu	37	2	98377070	98377070	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	ENST00000186436.5	-	38	5322	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1698	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5092-5094)agC>agT		transmembrane protein 131							88.0	89.0	89.0					2																	98377070		1956	4150	6106	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98377070G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5094C>T	2.37:g.98377070G>A							p.S1698S	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			38	5322	-			1698			Ser-rich.			Silent	SNP	ENST00000186436.5	37	c.5094C>T	CCDS46368.1																																																																																				0.478	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		4	7	0	0	0	0.00024832	0	4	7				
CLEC7A	64581	broad.mit.edu	37	12	10277909	10277909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	ENST00000304084.8	-	4	633	c.479G>A	c.(478-480)aGc>aAc	p.S160N	CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N|CLEC7A_ENST00000353231.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N|CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388																																						ENST00000353231.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(340-342)aGc>aAc		C-type lectin domain family 7, member A							109.0	106.0	107.0					12																	10277909		2203	4300	6503	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10277909C>T	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.479G>A	12.37:g.10277909C>T	ENSP00000302569:p.Ser160Asn					CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S160N|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N	p.S114N	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN			3	499	-			160					B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.341G>A	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305080	0.01353	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.68	-3.6	0.04570	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.709675	0.13361	N	0.393668	T	0.08670	0.0215	N	0.20401	0.57	0.21861	N	0.999504	B;B;B;B;B;B;B	0.16603	0.016;0.016;0.018;0.005;0.007;0.006;0.008	B;B;B;B;B;B;B	0.17979	0.02;0.02;0.011;0.014;0.013;0.014;0.008	T	0.40478	-0.9561	10	0.07644	T	0.81	.	5.6454	0.17586	0.0:0.2224:0.2754:0.5022	.	114;160;81;160;114;160;114	Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	N	114;114;81;160;160	ENSP00000266456:S114N;ENSP00000298523:S114N;ENSP00000379743:S81N;ENSP00000302569:S160N;ENSP00000431461:S160N	ENSP00000298523:S114N	S	-	2	0	CLEC7A	10169176	0.002000	0.14202	0.002000	0.10522	0.078000	0.17371	-0.630000	0.05502	-0.770000	0.04614	-0.808000	0.03180	AGC		0.388	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		11	70	0	0	0	0.00136819	0	11	70				
RNF32	140545	broad.mit.edu	37	7	156447399	156447399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	ENST00000405335.1	+	5	813	c.404A>G	c.(403-405)gAg>gGg	p.E135G	AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000392741.2_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G			Q9H0A6	RNF32_HUMAN	ring finger protein 32	135						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(403-405)gAg>gGg		ring finger protein 32							110.0	92.0	98.0					7																	156447399		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156447399A>G		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.404A>G	7.37:g.156447399A>G	ENSP00000385285:p.Glu135Gly					RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000405335.1_Missense_Mutation_p.E135G|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G	p.E135G			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	492	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	135					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.404A>G	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	1.110	-0.658478	0.03454	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;1.97	5.34	-1.76	0.08006	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.118790	0.06539	N	0.742857	T	0.29288	0.0729	N	0.20530	0.585	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.001;0.002	B;B;B;B	0.12156	0.002;0.002;0.004;0.007	T	0.21042	-1.0257	10	0.20519	T	0.43	-3.4559	7.2965	0.26395	0.2717:0.4244:0.3039:0.0	.	135;135;135;135	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	G	135	ENSP00000385815:E135G;ENSP00000405588:E135G;ENSP00000315950:E135G;ENSP00000385285:E135G;ENSP00000308894:E135G;ENSP00000376499:E135G;ENSP00000376497:E135G;ENSP00000341185:E135G	ENSP00000308894:E135G	E	+	2	0	RNF32	156140160	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.120000	0.10660	-0.571000	0.06014	-0.408000	0.06270	GAG		0.542	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		3	47	0	0	0	0.000602214	0	3	47				
WFDC9	259240	broad.mit.edu	37	20	44237304	44237304	+	Silent	SNP	G	G	A	rs557112902		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:44237304G>A	ENST00000326000.1	-	4	454	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	79						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAACTCACTCGTTGTCTAAGC	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20117	0.0		0.0	False		,,,				2504	0.0					ENST00000326000.1																			0				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6						c.(235-237)aaC>aaT		WAP four-disulfide core domain 9							221.0	170.0	187.0					20																	44237304		2203	4300	6503	SO:0001819	synonymous_variant	259240					extracellular region		g.chr20:44237304G>A	AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"""WAP four-disulfide core domain containing"""	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.237C>T	20.37:g.44237304G>A							p.N79N	NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN			4	454	-		Myeloproliferative disorder(115;0.0122)	79					Q3MIX6|Q5TGZ8	Silent	SNP	ENST00000326000.1	37	c.237C>T	CCDS13362.1																																																																																				0.463	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106945.1			10	85	0	0	0	0.000673444	0	10	85				
MAGEE2	139599	broad.mit.edu	37	X	75004654	75004654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	ENST00000373359.2	-	1	425	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(232-234)cGt>cAt		melanoma antigen family E, 2							41.0	38.0	39.0					X																	75004654		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004654C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.233G>A	X.37:g.75004654C>T	ENSP00000362457:p.Arg78His						p.R78H	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	425	-			78					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.233G>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093367	0.56075	.	.	ENSG00000186675	ENST00000373359	T	0.03717	3.83	2.87	2.0	0.26442	.	.	.	.	.	T	0.01976	0.0062	N	0.19112	0.55	0.25242	N	0.989745	B	0.33238	0.403	B	0.19391	0.025	T	0.47058	-0.9146	9	0.15066	T	0.55	.	5.2509	0.15521	0.0:0.8343:0.0:0.1657	.	78	Q8TD90	MAGE2_HUMAN	H	78	ENSP00000362457:R78H	ENSP00000362457:R78H	R	-	2	0	MAGEE2	74921379	0.990000	0.36364	0.996000	0.52242	0.967000	0.64934	0.074000	0.14662	0.625000	0.30304	0.513000	0.50165	CGT		0.557	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		12	35	0	0	0	0.00136819	0	12	35				
OR52N5	390075	broad.mit.edu	37	11	5799221	5799221	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	ENST00000317093.2	-	1	676	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(643-645)aTt>aCt		olfactory receptor, family 52, subfamily N, member 5							137.0	120.0	126.0					11																	5799221		2121	4086	6207	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799221A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.644T>C	11.37:g.5799221A>G	ENSP00000322866:p.Ile215Thr					TRIM5_ENST00000380027.1_Intron	p.I215T	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	676	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	215					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.644T>C	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	9.044	0.990510	0.18966	.	.	ENSG00000181009	ENST00000317093	T	0.00107	8.72	3.72	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31123	U	0.008213	T	0.00178	0.0005	L	0.38175	1.15	0.26302	N	0.977954	P	0.46621	0.881	P	0.53185	0.72	T	0.50065	-0.8871	10	0.25751	T	0.34	.	8.0525	0.30585	0.8987:0.0:0.1013:0.0	.	215	Q8NH56	O52N5_HUMAN	T	215	ENSP00000322866:I215T	ENSP00000322866:I215T	I	-	2	0	OR52N5	5755797	0.000000	0.05858	0.998000	0.56505	0.642000	0.38348	0.198000	0.17217	0.607000	0.29982	0.416000	0.27883	ATT		0.438	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		15	57	0	0	0	0.000219431	0	15	57				
TANGO6	79613	broad.mit.edu	37	16	68894132	68894132	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:68894132T>C	ENST00000261778.1	+	2	452	c.440T>C	c.(439-441)tTc>tCc	p.F147S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	147						integral component of membrane (GO:0016021)											ACTGTCCAGTTCGTTTTGCAG	0.483																																						ENST00000261778.1																			0											c.(439-441)tTc>tCc		transport and golgi organization 6 homolog (Drosophila)							218.0	205.0	209.0					16																	68894132		1969	4173	6142	SO:0001583	missense	79613							g.chr16:68894132T>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.440T>C	16.37:g.68894132T>C	ENSP00000261778:p.Phe147Ser						p.F147S	NM_024562.1	NP_078838.1					2	452	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.440T>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	T	1.935	-0.444895	0.04604	.	.	ENSG00000103047	ENST00000261778	T	0.65549	-0.16	5.23	4.28	0.50868	.	.	.	.	.	T	0.20618	0.0496	N	0.00099	-2.14	0.24510	N	0.994218	B	0.02656	0.0	B	0.01281	0.0	T	0.12811	-1.0533	9	0.05436	T	0.98	0.0133	11.935	0.52868	0.0:0.9126:0.0:0.0874	.	147	Q9C0B7	TMCO7_HUMAN	S	147	ENSP00000261778:F147S	ENSP00000261778:F147S	F	+	2	0	TMCO7	67451633	0.996000	0.38824	0.823000	0.32752	0.577000	0.36160	3.588000	0.53964	1.185000	0.42971	-0.366000	0.07423	TTC		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		70	91	0	0	0	0.000781405	0	70	91				
ZNF157	7712	broad.mit.edu	37	X	47269681	47269681	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:47269681G>A	ENST00000377073.3	+	2	165	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGGGGTCCGTGTCATTCGA	0.483																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(79-81)Gtg>Atg		zinc finger protein 157							143.0	123.0	130.0					X																	47269681		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47269681G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.79G>A	X.37:g.47269681G>A	ENSP00000366273:p.Val27Met						p.V27M	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			2	165	+			27			KRAB.		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.79G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297796	0.23650	.	.	ENSG00000147117	ENST00000377073	T	0.05925	3.37	3.27	2.37	0.29283	Krueppel-associated box (4);	.	.	.	.	T	0.14013	0.0339	L	0.54908	1.71	0.23940	N	0.996402	D	0.69078	0.997	P	0.61477	0.889	T	0.10870	-1.0611	9	0.56958	D	0.05	.	5.2176	0.15352	0.0:0.2286:0.5334:0.2381	.	27	P51786	ZN157_HUMAN	M	27	ENSP00000366273:V27M	ENSP00000366273:V27M	V	+	1	0	ZNF157	47154625	0.945000	0.32115	0.307000	0.25127	0.484000	0.33280	1.410000	0.34691	0.738000	0.32606	0.423000	0.28283	GTG		0.483	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		9	81	0	0	0	0.000673444	0	9	81				
TRPC6	7225	broad.mit.edu	37	11	101323746	101323746	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	ENST00000344327.3	-	13	3160	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_ENST00000348423.4_Silent_p.L796L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000360497.4_Silent_p.L857L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	912					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2734-2736)ctT>ctC		transient receptor potential cation channel, subfamily C, member 6							177.0	177.0	177.0					11																	101323746		2203	4300	6503	SO:0001819	synonymous_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323746A>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2736T>C	11.37:g.101323746A>G						TRPC6_ENST00000360497.4_Silent_p.L857L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000348423.4_Silent_p.L796L	p.L912L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3160	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	912					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	c.2736T>C	CCDS8311.1																																																																																				0.368	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		47	87	0	0	0	0.000781405	0	47	87				
MST1L	11223	broad.mit.edu	37	1	17084730	17084730	+	RNA	DEL	G	G	-	rs369371609		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:17084730delG	ENST00000455405.2	-	0	286							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R494fs*37(1)									AAGCACTGCCGGGCAGTCAGT	0.582																																						ENST00000455405.2																			1	Deletion - Frameshift(1)	p.R494fs*37(1)	large_intestine(1)																																																0							g.chr1:17084730delG	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084730delG														0	286	-								B7WPB1|Q13209	RNA	DEL	ENST00000455405.2	37																																																																																						0.582	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		2	4						2	4	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:139422532_139422534delGCT	ENST00000361474.1	-	1	345_347	c.121_123delAGC	c.(121-123)agcdel	p.S41del	NRG2_ENST00000541337.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgccgctctcgctgctgctgctg	0.7																																						ENST00000541337.1																			2	Deletion - In frame(2)	p.S41delS(2)	soft_tissue(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(121-123)del		neuregulin 2			,,,,	9,5,109,1819		2,0,0,5,1,0,3,19,71,870					,,,,	0.6	0.8			4	20,40,281,3927		5,0,1,9,12,0,16,38,204,1849	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	7,0,1,14,13,0,19,57,275,2719	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.9897,6.3337,7.4718	,,,,	,,,,		29,45,390,5746				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422532_139422534delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.121_123delAGC	5.37:g.139422541_139422543delGCT	ENSP00000354910:p.Ser41del					NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del	p.S41del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	350_352	-			41			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.121_123delAGC	CCDS4217.1																																																																																				0.700	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55																																						ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAAC																													12.37:g.13174148_13174150dupAAC														0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			4	5						4	5	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		4	7						4	7	---	---	---	---
FOXJ1	2302	broad.mit.edu	37	17	74136327	74136327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr17:74136327delG	ENST00000322957.6	-	2	504	c.150delC	c.(148-150)cccfs	p.P50fs	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	50					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(148-150)ccfs		forkhead box J1							6.0	7.0	6.0					17																	74136327		1698	3299	4997	SO:0001589	frameshift_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136327delG	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.150delC	17.37:g.74136327delG	ENSP00000323880:p.Pro50fs						p.P50fs	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	504	-			50					O00630	Frame_Shift_Del	DEL	ENST00000322957.6	37	c.150delC	CCDS32739.1																																																																																				0.756	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		2	4						2	4	---	---	---	---
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.46																																						ENST00000601562.1																			0																																																			0							g.chr19:52896073_52896074delTA																													19.37:g.52896083_52896084delTA														0	784	-									RNA	DEL	ENST00000601562.1	37																																																																																						0.460	CTD-3018O17.3-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000462867.1			2	4						2	4	---	---	---	---
CARD10	29775	broad.mit.edu	37	22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr22:37900249delG	ENST00000403299.1	-	10	1794	c.1578delC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1576-1578)ccfs		caspase recruitment domain family, member 10							50.0	49.0	49.0					22																	37900249		2194	4290	6484	SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37900249delG	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1578delC	22.37:g.37900249delG	ENSP00000384570:p.Pro526fs					CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs	p.P526fs			Q9BWT7	CAR10_HUMAN			10	1794	-	Melanoma(58;0.0574)		526					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.1578delC	CCDS13948.1																																																																																				0.642	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		2	4						2	4	---	---	---	---
