#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
TAS2R16	50833	broad.mit.edu	37	7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	ENST00000249284.2	-	1	117	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	18					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(52-54)Tcc>Ccc		taste receptor, type 2, member 16							59.0	56.0	57.0					7																	122635637		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635637A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.52T>C	7.37:g.122635637A>G	ENSP00000249284:p.Ser18Pro						p.S18P	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	117	-			18					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.52T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149393	0.37923	.	.	ENSG00000128519	ENST00000249284	T	0.39056	1.1	4.61	0.867	0.19085	.	0.424586	0.22063	N	0.065147	T	0.53367	0.1792	M	0.64404	1.975	0.25366	N	0.988748	D	0.89917	1.0	D	0.76575	0.988	T	0.39375	-0.9617	10	0.44086	T	0.13	.	6.5814	0.22596	0.7068:0.0:0.2932:0.0	.	18	Q9NYV7	T2R16_HUMAN	P	18	ENSP00000249284:S18P	ENSP00000249284:S18P	S	-	1	0	TAS2R16	122422873	0.007000	0.16637	0.603000	0.28903	0.218000	0.24690	1.223000	0.32527	0.056000	0.16144	0.533000	0.62120	TCC		0.453	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		15	48	0	0	0	0.028581	0	15	48				
NINL	22981	broad.mit.edu	37	20	25436318	25436318	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	ENST00000278886.6	-	23	4021	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L967L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1316					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTTCAGCTTATCCA	0.488																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3946-3948)ctG>ctA		ninein-like							243.0	226.0	232.0					20																	25436318		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436318C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3948G>A	20.37:g.25436318C>T						NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L967L	p.L1316L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	4021	-			1316					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3948G>A	CCDS33452.1																																																																																				0.488	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		56	142	0	0	0	0.048971	0	56	142				
DOCK7	85440	broad.mit.edu	37	1	62959981	62959981	+	Missense_Mutation	SNP	G	G	A	rs76581585		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:62959981G>A	ENST00000340370.5	-	39	5106	c.5089C>T	c.(5089-5091)Cgg>Tgg	p.R1697W	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1719W	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1728	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATATTTCCGGTCCTCCAGC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19817	0.001		0.0	False		,,,				2504	0.0					ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5155-5157)Cgg>Tgg		dedicator of cytokinesis 7							88.0	75.0	79.0					1																	62959981		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62959981G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5089C>T	1.37:g.62959981G>A	ENSP00000340742:p.Arg1697Trp					DOCK7_ENST00000340370.5_Missense_Mutation_p.R1697W	p.R1719W	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			40	5188	-			1728			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.5155C>T	CCDS30734.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	19.27|19.27	3.796253|3.796253	0.70567|0.70567	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05786	.|3.39;3.39	5.99|5.99	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15652|0.15652	0.0377|0.0377	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.71674	.|0.997;0.998;0.997;0.997;0.998;0.997	.|P;D;P;P;D;D	.|0.63283	.|0.821;0.913;0.888;0.888;0.913;0.913	T|T	0.00920|0.00920	-1.1514|-1.1514	5|10	.|0.66056	.|D	.|0.02	.|.	15.6554|15.6554	0.77129|0.77129	0.0:0.0:0.7507:0.2493|0.0:0.0:0.7507:0.2493	.|.	.|1728;1719;1697;1688;1688;1719	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	L|W	890|1728;1719;1697;458	.|ENSP00000251157:R1719W;ENSP00000340742:R1697W	.|ENSP00000251157:R1719W	P|R	-|-	2|1	0|2	DOCK7|DOCK7	62732569|62732569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	3.364000|3.364000	0.52328|0.52328	1.528000|1.528000	0.49103|0.49103	-0.169000|-0.169000	0.13324|0.13324	CCG|CGG		0.428	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		3	46	0	0	0	0.004672	0	3	46				
GK2	2712	broad.mit.edu	37	4	80327819	80327819	+	Silent	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	ENST00000358842.3	-	1	1553	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGTAACCCAACCCATTGACT	0.438																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1534-1536)ggT>ggC		glycerol kinase 2							144.0	129.0	135.0					4																	80327819		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327819A>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1536T>C	4.37:g.80327819A>G							p.G512G	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1553	-			512					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.1536T>C	CCDS3585.1																																																																																				0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		27	77	0	0	0	0.030593	0	27	77				
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	rs587780075		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM921040	TP53	M		c.(799-801)cGg>cCg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P	p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	932	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	6	0	0	0	0.069288	0	22	6				
TTN	7273	broad.mit.edu	37	2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	ENST00000591111.1	-	104	29292	c.29068A>G	c.(29068-29070)Acc>Gcc	p.T9690A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T10007A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13768	Ig-like 78.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATGGTGCAAGTCTGG	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30019-30021)Acc>Gcc		titin							185.0	176.0	179.0					2																	179569078		1962	4162	6124	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569078T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29068A>G	2.37:g.179569078T>C	ENSP00000465570:p.Thr9690Ala					TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T9690A|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN_ENST00000460472.2_Intron	p.T10007A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30243	-			9690			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30019A>G		.	.	.	.	.	.	.	.	.	.	T	12.54	1.967783	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.47869	0.83	5.99	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47358	0.1441	L	0.53780	1.695	0.80722	D	1	B	0.28128	0.201	B	0.35182	0.197	T	0.47799	-0.9089	9	0.87932	D	0	.	11.0812	0.48062	0.2469:0.0:0.0:0.7531	.	9690	Q8WZ42	TITIN_HUMAN	A	8763	ENSP00000343764:T8763A	ENSP00000343764:T8763A	T	-	1	0	TTN	179277323	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.982000	0.56909	1.065000	0.40693	0.533000	0.62120	ACC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	136	0	0	0	0.055883	0	21	136				
PAPPA	5069	broad.mit.edu	37	9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	ENST00000328252.3	+	20	5030	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1554	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGATTCACTGTGTCAAAGGC	0.473																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4660-4662)tGt>tCt		pregnancy-associated plasma protein A, pappalysin 1							182.0	146.0	158.0					9																	119139910		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119139910G>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4661G>C	9.37:g.119139910G>C	ENSP00000330658:p.Cys1554Ser					PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S|PAPPA_ENST00000483254.1_3'UTR	p.C1554S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			20	5030	+			1554			Sushi 5.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4661G>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740989	0.89573	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	D;D	0.98234	-4.81;-4.81	5.97	5.97	0.96955	Notch domain (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.99833	1.1055	10	0.87932	D	0	-11.6164	20.4301	0.99081	0.0:0.0:1.0:0.0	.	592;1554	F5GZ19;Q13219	.;PAPP1_HUMAN	S	1554;592	ENSP00000330658:C1554S;ENSP00000441461:C592S	ENSP00000330658:C1554S	C	+	2	0	PAPPA	118179731	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.434000	0.97515	2.834000	0.97654	0.557000	0.71058	TGT		0.473	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		16	28	0	0	0	0.024245	0	16	28				
INPP5A	3632	broad.mit.edu	37	10	134521843	134521843	+	Silent	SNP	C	C	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	ENST00000368594.3	+	7	778	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.I167I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500). {ECO:0000305}.	inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(499-501)atC>atA		inositol polyphosphate-5-phosphatase, 40kDa							331.0	257.0	282.0					10																	134521843		2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134521843C>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.501C>A	10.37:g.134521843C>A						INPP5A_ENST00000368593.3_Silent_p.I167I|INPP5A_ENST00000487614.1_3'UTR	p.I167I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	7	778	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	167	PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).				D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.501C>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361130	0.24684	.	.	ENSG00000068383	ENST00000432898;ENST00000342652	.	.	.	4.88	-1.96	0.07525	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31998	-0.9923	4	.	.	.	-30.8518	1.9716	0.03407	0.1281:0.1649:0.3797:0.3273	.	.	.	.	T	86;139	.	.	P	+	1	0	INPP5A	134371833	0.882000	0.30256	0.993000	0.49108	0.992000	0.81027	-0.090000	0.11163	-0.034000	0.13713	0.491000	0.48974	CCG		0.463	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		6	26	1	0	0.00307968	0.038147	0.00315865	6	26				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	77	0	0	0	0.009096	0	4	77				
SSB	6741	broad.mit.edu	37	2	170667377	170667377	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	ENST00000409333.1	+	10	1067	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_ENST00000260956.4_Silent_p.L274L|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	274					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(820-822)Cta>Tta		Sjogren syndrome antigen B (autoantigen La)							55.0	61.0	59.0					2																	170667377		2201	4300	6501	SO:0001819	synonymous_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667377C>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.820C>T	2.37:g.170667377C>T						METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Silent_p.L274L	p.L274L			P05455	LA_HUMAN			10	1067	+			274					Q15367|Q53XJ4	Silent	SNP	ENST00000409333.1	37	c.820C>T	CCDS2237.1																																																																																				0.353	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		19	43	0	0	0	0.062417	0	19	43				
TNN	63923	broad.mit.edu	37	1	175048764	175048764	+	Silent	SNP	C	C	T	rs370138783		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	ENST00000239462.4	+	3	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	235	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(703-705)ggC>ggT		tenascin N							20.0	15.0	16.0					1																	175048764		2188	4284	6472	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048764C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.705C>T	1.37:g.175048764C>T							p.G235G	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	818	+		Breast(1374;0.000962)	235			EGF-like 3.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.705C>T	CCDS30943.1																																																																																				0.667	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		11	9	0	0	0	0.080935	0	11	9				
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3862-3864)ctG>ctA		ninein-like							183.0	196.0	191.0					20																	25436402		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436402C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3864G>A	20.37:g.25436402C>T						NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	p.L1288L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3937	-			1288					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3864G>A	CCDS33452.1																																																																																				0.537	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		62	199	0	0	0	0.048971	0	62	199				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	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			22	39	0	0	0	0.069288	0	22	39				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	76	0	0	0	0.009096	0	4	76				
SMCR8	140775	broad.mit.edu	37	17	18220403	18220403	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:18220403G>A	ENST00000406438.3	+	1	1780	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	434						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGGAACTGGGAGATGAGGA	0.448																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1300-1302)Gga>Aga		Smith-Magenis syndrome chromosome region, candidate 8							114.0	108.0	110.0					17																	18220403		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220403G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1300G>A	17.37:g.18220403G>A	ENSP00000385025:p.Gly434Arg						p.G434R	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1780	+			434					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1300G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020593	0.19433	.	.	ENSG00000176994	ENST00000406438	T	0.22945	1.93	6.03	2.93	0.34026	.	0.123741	0.53938	N	0.000047	T	0.22820	0.0551	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.23297	-1.0192	10	0.17832	T	0.49	-35.0175	11.7519	0.51853	0.1928:0.0:0.8072:0.0	.	434	Q8TEV9	SMCR8_HUMAN	R	434	ENSP00000385025:G434R	ENSP00000385025:G434R	G	+	1	0	SMCR8	18161128	0.997000	0.39634	0.003000	0.11579	0.928000	0.56348	3.112000	0.50368	0.423000	0.26033	0.655000	0.94253	GGA		0.448	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		4	86	0	0	0	0.009096	0	4	86				
OR2J3	442186	broad.mit.edu	37	6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	ENST00000377169.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	278						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(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(832-834)gCc>gTc		olfactory receptor, family 2, subfamily J, member 3							96.0	98.0	98.0					6																	29080500		1239	2540	3779	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080500C>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.833C>T	6.37:g.29080500C>T	ENSP00000366374:p.Ala278Val						p.A278V	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	833	+			278					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.833C>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213714	0.58452	.	.	ENSG00000204701	ENST00000377169	T	0.00202	8.56	3.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	M	0.64567	1.98	0.09310	N	0.999999	P	0.52316	0.952	P	0.56127	0.792	T	0.24693	-1.0153	9	0.87932	D	0	.	8.2793	0.31892	0.0:0.8825:0.0:0.1175	.	278	O76001	OR2J3_HUMAN	V	278	ENSP00000366374:A278V	ENSP00000366374:A278V	A	+	2	0	OR2J3	29188479	0.000000	0.05858	0.993000	0.49108	0.951000	0.60555	0.750000	0.26334	1.679000	0.50963	0.436000	0.28706	GCC		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			4	55	0	0	0	0.009096	0	4	55				
SOHLH1	402381	broad.mit.edu	37	9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	ENST00000298466.5	-	5	598	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	180					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ATGTGCGGCACGGGCTCTGGG	0.632																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(538-540)Gtg>Atg		spermatogenesis and oogenesis specific basic helix-loop-helix 1		G	MET/VAL,MET/VAL	1,4405		0,1,2202	53.0	54.0	54.0		538,538	0.6	0.0	9	dbSNP_134	54	2,8596		0,2,4297	no	missense,missense	SOHLH1	NM_001012415.2,NM_001101677.1	21,21	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	180/329,180/388	138588581	3,13001	2203	4299	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138588581C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.538G>A	9.37:g.138588581C>T	ENSP00000298466:p.Val180Met					SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	p.V180M	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	598	-		Myeloproliferative disorder(178;0.0511)	180					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.538G>A	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138357	0.37728	2.27E-4	2.33E-4	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.38401	1.14;1.18	1.56	0.614	0.17603	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.006;0.009	B;B	0.04013	0.001;0.001	T	0.20174	-1.0283	9	0.35671	T	0.21	.	2.7742	0.05343	0.2074:0.3069:0.4858:0.0	.	180;180	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	M	180	ENSP00000298466:V180M;ENSP00000404438:V180M	ENSP00000298466:V180M	V	-	1	0	SOHLH1	137728402	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.686000	0.05161	-0.141000	0.11374	-0.215000	0.12644	GTG		0.632	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		4	61	0	0	0	0.029380	0	4	61				
TTN	7273	broad.mit.edu	37	2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	ENST00000591111.1	-	28	5146	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K|TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|TTN_ENST00000589042.1_Missense_Mutation_p.T1641K|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12492	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4921-4923)aCa>aAa		titin							72.0	71.0	72.0					2																	179641669		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641669G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4922C>A	2.37:g.179641669G>T	ENSP00000465570:p.Thr1641Lys					TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T1641K|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K	p.T1641K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5146	-			1375			Ig-like 7.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.4922C>A		.	.	.	.	.	.	.	.	.	.	G	13.41	2.229190	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78811	0.4342	M	0.64260	1.97	0.45477	D	0.998449	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.79572	-0.1748	9	0.87932	D	0	.	19.8713	0.96852	0.0:0.0:1.0:0.0	.	1595;1595;1595;1641;1641	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1641;1595;1595;1595;1595;1641	ENSP00000343764:T1641K;ENSP00000434586:T1595K;ENSP00000340554:T1595K;ENSP00000352154:T1595K;ENSP00000354117:T1641K	ENSP00000340554:T1595K	T	-	2	0	TTN	179349914	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	9.789000	0.99068	2.702000	0.92279	0.650000	0.86243	ACA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	56	1	0	0.000157383	0.038147	0.000170144	8	56				
NOTCH4	4855	broad.mit.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	rs370312303		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1153-1155)Cgc>Tgc		notch 4		G	CYS/ARG	0,3022		0,0,1511	133.0	142.0	139.0		1153	4.4	1.0	6		139	1,5417		0,1,2708	no	missense	NOTCH4	NM_004557.3	180	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	385/2004	32188188	1,8439	1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188188G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1153C>T	6.37:g.32188188G>A	ENSP00000364163:p.Arg385Cys						p.R385C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			6	1291	-			385			EGF-like 9; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1153C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493945	0.64186	0.0	1.85E-4	ENSG00000204301	ENST00000375023	D	0.91740	-2.9	4.36	4.36	0.52297	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.193071	0.25875	N	0.027725	D	0.94262	0.8157	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;B	0.63488	0.915;0.254	D	0.94793	0.7964	10	0.72032	D	0.01	.	14.4145	0.67139	0.0:0.0:1.0:0.0	.	385;385	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	385	ENSP00000364163:R385C	ENSP00000364163:R385C	R	-	1	0	NOTCH4	32296166	0.997000	0.39634	1.000000	0.80357	0.905000	0.53344	2.450000	0.44943	2.241000	0.73720	0.313000	0.20887	CGC		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	131	0	0	0	0.029380	0	7	131				
GLRA4	441509	broad.mit.edu	37	X	102962436	102962436	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:102962436C>A	ENST00000372617.4	-	9	1510	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	364						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGATGATATCTTCCTCCTGG	0.463																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1090-1092)Gat>Tat		glycine receptor, alpha 4							90.0	79.0	83.0					X																	102962436		1905	4106	6011	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102962436C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1090G>T	X.37:g.102962436C>A	ENSP00000361700:p.Asp364Tyr						p.D364Y	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			9	1510	-			364						Missense_Mutation	SNP	ENST00000372617.4	37	c.1090G>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	c	22.5	4.297501	0.81025	.	.	ENSG00000188828	ENST00000372617	D	0.83837	-1.77	5.62	5.62	0.85841	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.100100	0.64402	D	0.000002	D	0.85296	0.5664	L	0.56769	1.78	0.47905	D	0.999542	P	0.37370	0.592	P	0.45753	0.492	D	0.86563	0.1842	10	0.87932	D	0	.	15.884	0.79226	0.0:1.0:0.0:0.0	.	364	Q5JXX5	GLRA4_HUMAN	Y	364	ENSP00000361700:D364Y	ENSP00000361700:D364Y	D	-	1	0	GLRA4	102849092	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.581000	0.60949	2.350000	0.79820	0.544000	0.68410	GAT		0.463	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		4	40	1	0	3.59834e-05	0.021553	3.99815e-05	4	40				
ACSL6	23305	broad.mit.edu	37	5	131329917	131329917	+	Start_Codon_SNP	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	ENST00000379240.1	-	2	155	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ACSL6_ENST00000379249.3_Start_Codon_SNP_p.M1T|ACSL6_ENST00000431707.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379255.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000296869.4_Missense_Mutation_p.M26T|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379264.2_Missense_Mutation_p.M26T|ACSL6_ENST00000357096.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379272.2_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379244.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379246.1_Missense_Mutation_p.M12T|ACSL6_ENST00000543479.1_Start_Codon_SNP_p.M1T			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	1					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGTCTGCATCTTCTCCAG	0.547																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(76-78)aTg>aCg		acyl-CoA synthetase long-chain family member 6							55.0	46.0	49.0					5																	131329917		2203	4300	6503	SO:0001582	initiator_codon_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131329917A>G	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.2T>C	5.37:g.131329917A>G	ENSP00000368542:p.Met1Thr					ACSL6_ENST00000296869.4_Missense_Mutation_p.M26T|ACSL6_ENST00000379246.1_Missense_Mutation_p.M12T|ACSL6_ENST00000379249.3_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379272.2_Start_Codon_SNP_p.M1T|ACSL6_ENST00000543479.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000357096.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000431707.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379255.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379244.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000477640.1_5'UTR	p.M26T	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	185	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	1					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.77T>C		.	.	.	.	.	.	.	.	.	.	A	24.0	4.480753	0.84747	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61742	1.93;2.68;2.53;2.84;2.84;2.68;2.69;2.69;2.69;1.99;2.69;0.08;0.77	5.6	5.6	0.85130	.	0.039082	0.85682	D	0.000000	T	0.74951	0.3784	.	.	.	0.80722	D	1	D;D;B;B;P;B;B	0.59767	0.972;0.986;0.165;0.26;0.837;0.128;0.128	P;D;B;B;P;B;B	0.63283	0.844;0.913;0.08;0.196;0.71;0.129;0.129	T	0.78909	-0.2018	9	0.87932	D	0	.	15.7881	0.78326	1.0:0.0:0.0:0.0	.	1;1;26;1;1;26;26	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	T	1;26;1;1;1;26;12;1;1;1;1;1;1;1;1;1;1	ENSP00000368551:M1T;ENSP00000368566:M26T;ENSP00000368574:M1T;ENSP00000349608:M1T;ENSP00000368557:M1T;ENSP00000296869:M26T;ENSP00000368548:M12T;ENSP00000368546:M1T;ENSP00000368542:M1T;ENSP00000413329:M1T;ENSP00000442124:M1T;ENSP00000397507:M1T;ENSP00000398423:M1T	ENSP00000296869:M26T	M	-	2	0	ACSL6	131357816	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.137000	0.66172	0.482000	0.46254	ATG		0.547	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	Missense_Mutation	8	12	0	0	0	0.058154	0	8	12				
SIK3	23387	broad.mit.edu	37	11	116719848	116719848	+	Silent	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	ENST00000292055.4	-	21	3524	c.3489C>T	c.(3487-3489)agC>agT	p.S1163S	SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000446921.2_Silent_p.S1161S|SIK3_ENST00000434315.2_Silent_p.S1002S|SIK3_ENST00000375300.1_Silent_p.S1221S|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1163					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3661-3663)agC>agT		SIK family kinase 3							172.0	126.0	141.0					11																	116719848		2201	4293	6494	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116719848G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3489C>T	11.37:g.116719848G>A						SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000292055.4_Silent_p.S1163S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.S1161S|SIK3_ENST00000434315.2_Silent_p.S1002S	p.S1221S			Q9Y2K2	SIK3_HUMAN			21	3668	-			1163					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3663C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342368	0.24339	.	.	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	5.26	-2.94	0.05581	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1689	0.59587	0.6115:0.0:0.3885:0.0	.	.	.	.	X	1263;3;1126	.	.	R	-	1	2	SIK3	116225058	0.008000	0.16893	0.975000	0.42487	0.998000	0.95712	-0.906000	0.04071	-0.638000	0.05509	0.557000	0.71058	CGA		0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		7	63	0	0	0	0.038147	0	7	63				
GABRB1	2560	broad.mit.edu	37	4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	ENST00000295454.3	+	9	1539	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCTACGGGCGCGCCCTGGAC	0.642																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1246-1248)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						41.0	46.0	44.0					4																	47427857		2202	4299	6501	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427857G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1247G>A	4.37:g.47427857G>A	ENSP00000295454:p.Arg416His					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	p.R416H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1539	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1247G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506890	0.26949	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85484	-1.99;-1.99	5.38	4.54	0.55810	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	T	0.80788	0.4690	L	0.48642	1.525	0.49299	D	0.99977	B;B	0.16802	0.019;0.004	B;B	0.12837	0.008;0.001	T	0.76361	-0.2987	10	0.36615	T	0.2	-8.6877	14.2138	0.65781	0.0714:0.0:0.9286:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	H	416;346	ENSP00000295454:R416H;ENSP00000440330:R346H	ENSP00000295454:R416H	R	+	2	0	GABRB1	47122614	0.996000	0.38824	0.961000	0.40146	0.050000	0.14768	3.197000	0.51028	1.509000	0.48786	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			16	48	0	0	0	0.033300	0	16	48				
ZPBP	11055	broad.mit.edu	37	7	49977166	49977166	+	Silent	SNP	T	T	C	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	ENST00000046087.2	-	8	1083	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.Q337Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	338					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.343																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(1012-1014)caA>caG		zona pellucida binding protein		T	,	0,4406		0,0,2203	103.0	105.0	104.0		1011,1014	-2.6	0.1	7	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZPBP	NM_001159878.1,NM_007009.2	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	337/351,338/352	49977166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:49977166T>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.1014A>G	7.37:g.49977166T>C						ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.Q337Q	p.Q338Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			8	1083	-	Glioma(55;0.08)|all_neural(89;0.245)		338					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.1014A>G	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		36	74	0	0	0	0.092188	0	36	74				
RPUSD1	113000	broad.mit.edu	37	16	837118	837118	+	Missense_Mutation	SNP	G	G	A	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	ENST00000561734.1	-	3	611	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000567114.1_De_novo_Start_InFrame|RPUSD1_ENST00000565809.1_Intron			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	123					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14769	0.0		0.0	False		,,,				2504	0.001					ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(367-369)aCg>aTg		RNA pseudouridylate synthase domain containing 1		G	MET/THR	2,4368	4.2+/-10.8	0,2,2183	43.0	41.0	42.0		368	3.4	0.7	16	dbSNP_134	42	0,8598		0,0,4299	no	missense	RPUSD1	NM_058192.2	81	0,2,6482	AA,AG,GG		0.0,0.0458,0.0154	probably-damaging	123/313	837118	2,12966	2185	4299	6484	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837118G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.368C>T	16.37:g.837118G>A	ENSP00000455026:p.Thr123Met					RPUSD1_ENST00000567114.1_De_novo_Start_InFrame|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M	p.T123M			Q9UJJ7	RUSD1_HUMAN			3	611	-		Hepatocellular(780;0.00335)	123					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.368C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	9.390	1.075349	0.20227	4.58E-4	0.0	ENSG00000007376	ENST00000007264	T	0.22743	1.94	4.4	3.41	0.39046	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.554792	0.20280	N	0.095463	T	0.25865	0.0630	L	0.39692	1.235	0.20873	N	0.999838	D	0.65815	0.995	P	0.58873	0.847	T	0.08576	-1.0715	10	0.56958	D	0.05	-14.599	3.0577	0.06189	0.0975:0.1797:0.537:0.1858	.	123	Q9UJJ7	RUSD1_HUMAN	M	123	ENSP00000007264:T123M	ENSP00000007264:T123M	T	-	2	0	RPUSD1	777119	0.043000	0.20138	0.693000	0.30195	0.758000	0.43043	1.292000	0.33342	1.017000	0.39495	0.549000	0.68633	ACG		0.692	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		5	13	0	0	0	0.021553	0	5	13				
SMPD3	55512	broad.mit.edu	37	16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	ENST00000219334.5	-	5	2138	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	512		Important for substrate recognition. {ECO:0000250}.			cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1534-1536)aAc>aGc		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						48.0	50.0	49.0					16																	68398674		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68398674T>C	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1535A>G	16.37:g.68398674T>C	ENSP00000219334:p.Asn512Ser					SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S|SMPD3_ENST00000566009.1_5'UTR	p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	5	2138	-		Ovarian(137;0.0563)	512				Important for substrate recognition (By similarity).	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1535A>G	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875904	0.91664	.	.	ENSG00000103056	ENST00000219334	D	0.99458	-5.93	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.998	D	0.98435	1.0584	10	0.87932	D	0	-40.8822	14.122	0.65195	0.0:0.0:0.0:1.0	.	512;512;512	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	S	512	ENSP00000219334:N512S	ENSP00000219334:N512S	N	-	2	0	SMPD3	66956175	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.694000	0.84235	2.224000	0.72417	0.459000	0.35465	AAC		0.572	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		6	48	0	0	0	0.029380	0	6	48				
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1255-1257)del		AF4/FMR2 family, member 3			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del	p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1490_1492	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	6						3	6	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T	rs371634170		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	ENST00000391980.2	-	2	228	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		57					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGATCTAACACAAGATAACTC	0.498																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(169-171)tGt>tAt		MTERF domain containing 2		C	TYR/CYS	0,4406		0,0,2203	84.0	82.0	83.0		170	-8.8	0.0	2		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTERFD2	NM_182501.3	194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	57/382	242039161	1,13005	2203	4300	6503	SO:0001583	missense	130916							g.chr2:242039161C>T																												ENST00000391980.2:c.170G>A	2.37:g.242039161C>T	ENSP00000375840:p.Cys57Tyr					MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron	p.C57Y	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	228	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	57					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.170G>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374483	0.01214	0.0	1.16E-4	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.45668	0.89;0.94;2.75;1.52;1.53;0.96	4.39	-8.78	0.00824	.	1.308000	0.05286	N	0.520287	T	0.16428	0.0395	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.28522	-1.0041	10	0.02654	T	1	-13.7043	2.5886	0.04837	0.3286:0.1292:0.3862:0.156	.	57;57	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	Y	57;57;57;50;57;36	ENSP00000419315:C57Y;ENSP00000385183:C57Y;ENSP00000375840:C57Y;ENSP00000409023:C50Y;ENSP00000385630:C57Y;ENSP00000393063:C36Y	ENSP00000241527:C57Y	C	-	2	0	MTERFD2	241687834	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.088000	0.01359	-1.515000	0.01784	-0.229000	0.12294	TGT		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			12	82	0	0	0	0.020292	0	12	82				
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	13						7	13	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	lincRNA	INS	-	-	T	rs143051118	byFrequency	TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.47													|||unknown(HR)	546	0.109026	0.0416	0.1369	5008	,	,		19829	0.2173		0.1064	False		,,,				2504	0.0716					ENST00000447311.1																			0																																																			0							g.chr6:142860298_142860299insT																													6.37:g.142860308_142860308dupT								NR_027312.1						0	364	-									RNA	INS	ENST00000447311.1	37																																																																																						0.470	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			3	6						3	6	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			4	4						4	4	---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-	rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	ENST00000350221.3	-	11	1539_1546	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.LSR444fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.38																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1330-1338)gfs		fibrous sheath interacting protein 1																																				SO:0001589	frameshift_variant	161835							g.chr15:39910298_39910305delCTGGAAAG	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1330_1337delCTTTCCAG	15.37:g.39910298_39910305delCTGGAAAG	ENSP00000280236:p.Leu444fs						p.LSR444fs	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1539_1546	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	444					Q6X2C8|Q86Y89	Frame_Shift_Del	DEL	ENST00000350221.3	37	c.1330_1337delCTTTCCAG	CCDS10050.1																																																																																				0.380	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		21	94						21	94	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824|rs111811281|rs11080396		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCCTGCCCCGAACCACCCGACCCC	0.711																																						ENST00000576266.1																			0																																																			0							g.chr18:112402_112405delAACC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112402_112405delAACC														0	36_39	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.711	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			4	6						4	6	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-	rs181600414		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	ENST00000380659.3	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1004	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474																																						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.(3010-3018)del		toll-like receptor 7	Imiquimod(DB00724)																																			SO:0001651	inframe_deletion	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:12906637_12906645delCGGAAAAGG	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.3010_3018delCGGAAAAGG	X.37:g.12906637_12906645delCGGAAAAGG	ENSP00000370034:p.Arg1004_Arg1006del						p.RKR1004del	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	3149_3157	+			1004			TIR.		D1CS69|Q9NR98	In_Frame_Del	DEL	ENST00000380659.3	37	c.3010_3018delCGGAAAAGG	CCDS14151.1																																																																																				0.474	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	68						41	68	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	ENST00000373344.5	-	23	5832_5833	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F1835fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1873					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAAAATCTTGGAAAAGCTTTGC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5617-5619)tcafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855981_76855982insA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5619dupT	X.37:g.76855985_76855985dupA	ENSP00000362441:p.Phe1873fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S1835fs|ATRX_ENST00000480283.1_5'UTR	p.S1873fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5832_5833	-			1873					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.5618_5619insT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		88	76						88	76	---	---	---	---
