#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
MALT1	10892	broad.mit.edu	37	18	56363642	56363642	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr18:56363642G>A	ENST00000348428.3	+	3	679	c.421G>A	c.(421-423)Gga>Aga	p.G141R	MALT1_ENST00000345724.3_Missense_Mutation_p.G141R|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	141	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGTCTTGGCTGGACAGTTTGT	0.313			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(421-423)Gga>Aga		mucosa associated lymphoid tissue lymphoma translocation gene 1							44.0	45.0	45.0					18																	56363642		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56363642G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.421G>A	18.37:g.56363642G>A	ENSP00000319279:p.Gly141Arg					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G141R	p.G141R	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			3	679	+			141			Ig-like C2-type 1.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.421G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343703	0.82022	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.61392	0.11;0.11	5.19	5.19	0.71726	Immunoglobulin subtype 2 (1);DEATH-like (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	H	0.95780	3.72	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88552	0.3117	10	0.87932	D	0	.	17.8512	0.88747	0.0:0.0:1.0:0.0	.	141;141	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	R	141	ENSP00000319279:G141R;ENSP00000304161:G141R	ENSP00000304161:G141R	G	+	1	0	MALT1	54514622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.417000	0.80156	2.581000	0.87130	0.557000	0.71058	GGA		0.313	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			3	41	0	0	0	1	0	3	41				
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7579699C>T	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)	CTTGTCCTTACCAGAACGTTG	0.597		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"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	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.chr17:7579699C>T	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.96+1G>A	17.37:g.7579699C>T		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_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357778	0.82243	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	21	24	0	0	0	1	0	21	24				
ELF4	2000	broad.mit.edu	37	X	129205311	129205311	+	Splice_Site	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:129205311C>T	ENST00000308167.5	-	6	995	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	ELF4_ENST00000335997.7_Splice_Site_p.G206S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTCCATACCTTTGCCATCC	0.612			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.e6+1		E74-like factor 4 (ets domain transcription factor)							148.0	105.0	120.0					X																	129205311		2203	4300	6503	SO:0001630	splice_region_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205311C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.616+1G>A	X.37:g.129205311C>T						ELF4_ENST00000335997.7_Splice_Site_p.G206_splice	p.G206_splice	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			6	995	-			206			RUNX1-binding.			Splice_Site	SNP	ENST00000308167.5	37	c.616_splice	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305997	0.95629	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.26957	1.7;1.7	5.45	5.45	0.79879	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	T	0.37934	-0.9684	9	.	.	.	.	15.6014	0.76628	0.0:1.0:0.0:0.0	.	206	Q99607	ELF4_HUMAN	S	206	ENSP00000338608:G206S;ENSP00000311280:G206S	.	G	-	1	0	ELF4	129032992	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.721000	0.54941	2.278000	0.76064	0.513000	0.50165	GGC		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	Missense_Mutation	10	23	0	0	0	1	0	10	23				
CCDC110	256309	broad.mit.edu	37	4	186379853	186379853	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:186379853G>A	ENST00000307588.3	-	6	1963	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F|CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	630						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATTTGAAGAAGTGTCTCTTGT	0.328																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1888-1890)Ctt>Ttt		coiled-coil domain containing 110							87.0	90.0	89.0					4																	186379853		2202	4297	6499	SO:0001583	missense	256309					nucleus		g.chr4:186379853G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1888C>T	4.37:g.186379853G>A	ENSP00000306776:p.Leu630Phe					CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F|CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F	p.L630F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1963	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	630					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1888C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107711	0.20714	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.55	5.55	0.83447	.	0.126859	0.36002	N	0.002853	T	0.38108	0.1028	M	0.67953	2.075	0.23831	N	0.996725	B;B;B	0.32203	0.36;0.36;0.36	B;B;B	0.34385	0.181;0.13;0.181	T	0.38564	-0.9655	10	0.62326	D	0.03	-11.3948	17.6254	0.88092	0.0:0.0:1.0:0.0	.	630;593;630	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	F	593;630;630	ENSP00000377172:L593F;ENSP00000306776:L630F;ENSP00000427246:L630F	ENSP00000306776:L630F	L	-	1	0	CCDC110	186616847	1.000000	0.71417	0.408000	0.26446	0.526000	0.34562	3.064000	0.49986	2.755000	0.94549	0.655000	0.94253	CTT		0.328	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		24	67	0	0	0	1	0	24	67				
SLC17A2	10246	broad.mit.edu	37	6	25921307	25921307	+	Silent	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:25921307T>A	ENST00000265425.3	-	4	509	c.489A>T	c.(487-489)acA>acT	p.T163T	SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000377850.3_Silent_p.T163T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	163					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TAAACTGACCTGTCCATGCCA	0.433																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(487-489)acA>acT		solute carrier family 17, member 2							106.0	86.0	93.0					6																	25921307		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921307T>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.489A>T	6.37:g.25921307T>A						SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000265425.3_Silent_p.T163T	p.T163T			O00624	NPT3_HUMAN			5	1013	-			163					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.489A>T																																																																																					0.433	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			13	22	0	0	0	1	0	13	22				
IL36G	56300	broad.mit.edu	37	2	113742562	113742562	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:113742562T>A	ENST00000259205.4	+	5	515	c.446T>A	c.(445-447)aTc>aAc	p.I149N	IL36G_ENST00000376489.2_Missense_Mutation_p.I114N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	149					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACCAGCCCATCATTCTGACT	0.488																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(445-447)aTc>aAc		interleukin 36, gamma							88.0	80.0	83.0					2																	113742562		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742562T>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.446T>A	2.37:g.113742562T>A	ENSP00000259205:p.Ile149Asn					IL36G_ENST00000376489.2_Missense_Mutation_p.I114N	p.I149N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			5	515	+			149					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.446T>A	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551335	0.45383	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.22134	1.97;2.69	4.39	3.23	0.37069	.	0.353222	0.24160	N	0.040996	T	0.43986	0.1272	M	0.82517	2.595	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.952;0.992	T	0.25537	-1.0129	10	0.87932	D	0	-9.7766	6.6338	0.22872	0.0:0.1089:0.0:0.8911	.	114;149	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	N	114;149	ENSP00000365672:I114N;ENSP00000259205:I149N	ENSP00000259205:I149N	I	+	2	0	IL36G	113459033	0.006000	0.16342	0.010000	0.14722	0.045000	0.14185	1.868000	0.39509	0.832000	0.34804	0.379000	0.24179	ATC		0.488	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		4	47	0	0	0	1	0	4	47				
ARID1A	8289	broad.mit.edu	37	1	27101374	27101374	+	Silent	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:27101374G>A	ENST00000324856.7	+	18	5027	c.4656G>A	c.(4654-4656)caG>caA	p.Q1552Q	ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1552					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCACACGCCAGCCCCCATATG	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4654-4656)caG>caA		AT rich interactive domain 1A (SWI-like)							38.0	40.0	40.0					1																	27101374		2203	4298	6501	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101374G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4656G>A	1.37:g.27101374G>A						ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000457599.2_Intron	p.Q1552Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5027	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1552					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4656G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	3.394	-0.123649	0.06795	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.18	4.27	0.50696	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61695	-0.7010	4	.	.	.	-6.0152	11.8669	0.52499	0.1447:0.0:0.8553:0.0	.	.	.	.	T	449	.	.	A	+	1	0	ARID1A	26973961	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.271000	0.33098	1.440000	0.47531	-0.253000	0.11424	GCC		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	13	0	0	0	1	0	10	13				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	54	1	0	0.115264	1	0.115264	3	54				
TACC2	10579	broad.mit.edu	37	10	123843843	123843843	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr10:123843843G>C	ENST00000369005.1	+	4	2168	c.1828G>C	c.(1828-1830)Gta>Cta	p.V610L	TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.V610L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	610					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGATCCAGAAGTAGGCAAAGA	0.572																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1828-1830)Gta>Cta		transforming, acidic coiled-coil containing protein 2							68.0	63.0	65.0					10																	123843843		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843843G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1828G>C	10.37:g.123843843G>C	ENSP00000358001:p.Val610Leu					TACC2_ENST00000334433.3_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L	p.V610L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2168	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	610					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1828G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635953	0.29068	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03330	4.03;3.97;3.97;4.03;3.97	5.29	-2.45	0.06481	.	2.237190	0.02510	N	0.091389	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.11329	0.006;0.006;0.006	T	0.45279	-0.9272	10	0.52906	T	0.07	0.3842	5.9216	0.19086	0.5493:0.1497:0.301:0.0	.	610;610;610	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	L	610;610;610;610;610;600	ENSP00000358001:V610L;ENSP00000424467:V610L;ENSP00000427618:V610L;ENSP00000334280:V610L;ENSP00000395048:V610L	ENSP00000334280:V610L	V	+	1	0	TACC2	123833833	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.450000	0.06803	-0.562000	0.06086	-0.258000	0.10820	GTA		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	19	0	0	0	1	0	13	19				
ARHGEF18	23370	broad.mit.edu	37	19	7531821	7531821	+	Silent	SNP	G	G	A	rs79986215	byFrequency	TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:7531821G>A	ENST00000359920.6	+	14	2611	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R744Q|ARHGEF18_ENST00000319670.9_Silent_p.T628T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	786					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CGCCAGGCACGGAATCCGATC	0.627													G|||	60	0.0119808	0.0121	0.0	5008	,	,		13572	0.0069		0.007	False		,,,				2504	0.0307					ENST00000593531.1																			0											c.(2230-2232)cGg>cAg				G	,	18,4388	25.3+/-52.1	0,18,2185	77.0	79.0	79.0		2358,1884	-7.5	0.0	19	dbSNP_131	79	20,8580	14.0+/-48.4	0,20,4280	no	coding-synonymous,coding-synonymous	ARHGEF18	NM_001130955.1,NM_015318.3	,	0,38,6465	AA,AG,GG		0.2326,0.4085,0.2922	,	786/1174,628/1016	7531821	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7531821G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2358G>A	19.37:g.7531821G>A						ARHGEF18_ENST00000359920.6_Silent_p.T786T|ARHGEF18_ENST00000319670.9_Silent_p.T628T	p.R744Q							17	2231	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2231G>A	CCDS45946.1																																																																																				0.627	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		37	52	0	0	0	1	0	37	52				
OTOF	9381	broad.mit.edu	37	2	26684997	26684997	+	Missense_Mutation	SNP	C	C	T	rs555613193		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:26684997C>T	ENST00000272371.2	-	42	5371	c.5245G>A	c.(5245-5247)Gac>Aac	p.D1749N	OTOF_ENST00000339598.3_Missense_Mutation_p.D982N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1749					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGTCGTCGTCCTCCAAG	0.607																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5245-5247)Gac>Aac		otoferlin							181.0	164.0	170.0					2																	26684997		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26684997C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5245G>A	2.37:g.26684997C>T	ENSP00000272371:p.Asp1749Asn					OTOF_ENST00000339598.3_Missense_Mutation_p.D982N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N	p.D1749N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			42	5371	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1749					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5245G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150628	0.94645	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.06	5.06	0.68205	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.986	D;P;D;P	0.80764	0.994;0.726;0.983;0.848	D	0.92499	0.6007	10	0.38643	T	0.18	-24.2221	18.0128	0.89229	0.0:1.0:0.0:0.0	.	1749;982;1059;982	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	N	982;982;1059;1749;1749	ENSP00000345137:D982N;ENSP00000344521:D982N;ENSP00000383906:D1059N;ENSP00000272371:D1749N;ENSP00000385255:D1749N	ENSP00000272371:D1749N	D	-	1	0	OTOF	26538501	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	7.747000	0.85070	2.355000	0.79922	0.561000	0.74099	GAC		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			6	127	0	0	0	1	0	6	127				
SLC11A1	6556	broad.mit.edu	37	2	219251432	219251432	+	Silent	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:219251432G>A	ENST00000233202.6	+	5	808	c.468G>A	c.(466-468)acG>acA	p.T156T	SLC11A1_ENST00000539932.1_Silent_p.T38T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	156					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGGCACGGCCATTGCAT	0.582																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(466-468)acG>acA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							113.0	90.0	98.0					2																	219251432		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251432G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.468G>A	2.37:g.219251432G>A						SLC11A1_ENST00000539932.1_Silent_p.T38T	p.T156T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	808	+		Renal(207;0.0474)	156					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.468G>A	CCDS2415.1																																																																																				0.582	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		11	14	0	0	0	1	0	11	14				
FAT1	2195	broad.mit.edu	37	4	187532792	187532792	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:187532792C>T	ENST00000441802.2	-	14	9810	c.9601G>A	c.(9601-9603)Gct>Act	p.A3201T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3201	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGATCCACAGCTTTCAAAGAG	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9601-9603)Gct>Act		FAT atypical cadherin 1							56.0	55.0	55.0					4																	187532792		1912	4129	6041	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187532792C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9601G>A	4.37:g.187532792C>T	ENSP00000406229:p.Ala3201Thr	HNSCC(5;0.00058)					p.A3201T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			14	9810	-			3201			Cadherin 29.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9601G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310167	0.95629	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.36878	1.23	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.97491	4.015	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.83547	0.0099	10	0.66056	D	0.02	.	18.9342	0.92579	0.0:1.0:0.0:0.0	.	3201	Q14517	FAT1_HUMAN	T	3201;3203	ENSP00000406229:A3201T	ENSP00000260147:A3203T	A	-	1	0	FAT1	187769786	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.647000	0.83462	2.707000	0.92482	0.555000	0.69702	GCT		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	12	0	0	0	1	0	4	12				
PLEKHA4	57664	broad.mit.edu	37	19	49348627	49348627	+	Splice_Site	SNP	C	C	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:49348627C>G	ENST00000263265.6	-	16	2298	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PLEKHA4_ENST00000355496.5_Splice_Site_p.K556N	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	581						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TACAGCTTACCTTGGTTCCTA	0.572																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.e16+1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							95.0	94.0	94.0					19																	49348627		2203	4300	6503	SO:0001630	splice_region_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49348627C>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1743+1G>C	19.37:g.49348627C>G						PLEKHA4_ENST00000355496.5_Splice_Site_p.K556_splice	p.K581_splice	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	16	2298	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	581					Q8N4M8|Q8N658	Splice_Site	SNP	ENST00000263265.6	37	c.1743_splice	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870422	0.51588	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.25085	1.82;1.82	4.97	4.97	0.65823	.	0.158349	0.29715	N	0.011391	T	0.37433	0.1003	L	0.29908	0.895	0.32905	D	0.513794	D;D	0.76494	0.999;0.989	D;P	0.80764	0.994;0.688	T	0.33599	-0.9862	9	.	.	.	.	14.5344	0.67950	0.0:1.0:0.0:0.0	.	556;581	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	N	581;556	ENSP00000263265:K581N;ENSP00000347683:K556N	.	K	-	3	2	PLEKHA4	54040439	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	3.071000	0.50041	2.702000	0.92279	0.544000	0.68410	AAG		0.572	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		Missense_Mutation	19	34	0	0	0	1	0	19	34				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	26	0	0	0	1	0	25	26				
CNTN4	152330	broad.mit.edu	37	3	3084667	3084667	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:3084667T>A	ENST00000397461.1	+	21	2902	c.2518T>A	c.(2518-2520)Tat>Aat	p.Y840N	CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	840	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTAGGTTAAATATTGGAGACA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2518-2520)Tat>Aat		contactin 4							55.0	53.0	54.0					3																	3084667		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084667T>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2518T>A	3.37:g.3084667T>A	ENSP00000380602:p.Tyr840Asn					CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N	p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2902	+		Ovarian(110;0.156)	840			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2518T>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189657	0.78789	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.073444	0.64402	D	0.000020	D	0.84129	0.5404	H	0.94964	3.605	0.80722	D	1	D;D	0.76494	0.972;0.999	P;D	0.73380	0.876;0.98	D	0.88944	0.3382	9	.	.	.	.	15.0619	0.71961	0.0:0.0:0.0:1.0	.	839;840	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	N	840;840;840;621;512;512	ENSP00000396010:Y840N;ENSP00000380602:Y840N;ENSP00000413642:Y840N;ENSP00000351267:Y621N;ENSP00000380600:Y512N;ENSP00000392077:Y512N	.	Y	+	1	0	CNTN4	3059667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.025000	0.59659	0.533000	0.62120	TAT		0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			13	23	0	0	0	1	0	13	23				
SPTA1	6708	broad.mit.edu	37	1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T	rs370498187		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	470					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATACTGACGATGACGCTC	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1408-1410)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		T	HIS/ARG	0,3932		0,0,1966	114.0	110.0	111.0		1409	2.7	0.0	1		111	1,8321		0,1,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6126	TT,TC,CC		0.012,0.0,0.0082	benign	470/2420	158641928	1,12253	1966	4161	6127	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641928C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1409G>A	1.37:g.158641928C>T	ENSP00000357129:p.Arg470His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R470H	p.R470H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			11	1589	-	all_hematologic(112;0.0378)		470					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1409G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	4.511	0.094805	0.08681	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.0	2.66	0.31614	.	0.810877	0.10077	N	0.718994	T	0.06645	0.0170	N	0.01048	-1.04	0.21355	N	0.999714	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	10	0.27785	T	0.31	.	10.5345	0.44996	0.0:0.2099:0.0:0.7901	.	470	P02549	SPTA1_HUMAN	H	470	ENSP00000357130:R470H;ENSP00000357129:R470H	ENSP00000357129:R470H	R	-	2	0	SPTA1	156908552	0.998000	0.40836	0.001000	0.08648	0.032000	0.12392	2.804000	0.47931	-0.160000	0.11002	-2.269000	0.00276	CGT		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		31	23	0	0	0	1	0	31	23				
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A	rs587781525		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7577096T>A	ENST00000269305.4	-	8	1031	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000420246.2_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGTGCGCCGGTCTCTCCCAGG	0.552		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"""		44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(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	CM004343|CM056068	TP53	M		c.(841-843)gAc>gTc	Other conserved DNA damage response genes	tumor protein p53							82.0	70.0	74.0					17																	7577096		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577096T>A	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.842A>T	17.37:g.7577096T>A	ENSP00000269305:p.Asp281Val	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_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V	p.D281V	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	974	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	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.842A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794528	0.90453	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.37;-7.37;-7.37;-7.37;-7.37;-7.37	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.991	D;D;D;D	0.97110	0.99;1.0;0.99;0.99	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	281;281;281;281;281;270;149	ENSP00000352610:D281V;ENSP00000269305:D281V;ENSP00000398846:D281V;ENSP00000391127:D281V;ENSP00000391478:D281V;ENSP00000425104:D149V	ENSP00000269305:D281V	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	26	0	0	0	1	0	10	26				
PLEKHO2	80301	broad.mit.edu	37	15	65157873	65157873	+	Missense_Mutation	SNP	C	C	T	rs543499350		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:65157873C>T	ENST00000323544.4	+	6	1387	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	420										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGTGGCCTCGGAACAGACG	0.632																																						ENST00000323544.4																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1258-1260)tCg>tTg		pleckstrin homology domain containing, family O member 2							52.0	52.0	52.0					15																	65157873		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157873C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1259C>T	15.37:g.65157873C>T	ENSP00000326706:p.Ser420Leu					AC069368.3_ENST00000437723.1_Intron	p.S420L	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN			6	1387	+			420					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1259C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115074	0.56505	.	.	ENSG00000241839	ENST00000323544	T	0.29397	1.57	5.13	5.13	0.70059	.	0.474048	0.21139	N	0.079503	T	0.22399	0.0540	L	0.27053	0.805	0.33634	D	0.606396	P;P	0.50710	0.91;0.938	B;B	0.41466	0.358;0.206	T	0.29941	-0.9995	10	0.44086	T	0.13	.	11.4096	0.49919	0.1931:0.8069:0.0:0.0	.	370;420	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	L	420	ENSP00000326706:S420L	ENSP00000326706:S420L	S	+	2	0	PLEKHO2	62944926	0.989000	0.36119	0.990000	0.47175	0.987000	0.75469	0.731000	0.26058	2.381000	0.81170	0.549000	0.68633	TCG		0.632	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		3	14	0	0	0	1	0	3	14				
ADAMTS19	171019	broad.mit.edu	37	5	128862012	128862012	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr5:128862012A>G	ENST00000274487.4	+	4	1076	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	311						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATAGCAGAAAGTGGAAGAGG	0.363																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(931-933)Agt>Ggt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							77.0	72.0	74.0					5																	128862012		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862012A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.931A>G	5.37:g.128862012A>G	ENSP00000274487:p.Ser311Gly					CTC-575N7.1_ENST00000503616.1_RNA	p.S311G	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1076	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	311						Missense_Mutation	SNP	ENST00000274487.4	37	c.931A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461583	0.43736	.	.	ENSG00000145808	ENST00000274487	T	0.66638	-0.22	4.45	4.45	0.53987	.	0.338095	0.30791	N	0.008878	T	0.46092	0.1375	N	0.14661	0.345	0.28649	N	0.906767	B	0.31435	0.323	B	0.21546	0.035	T	0.36212	-0.9757	9	.	.	.	.	14.781	0.69766	1.0:0.0:0.0:0.0	.	311	Q8TE59	ATS19_HUMAN	G	311	ENSP00000274487:S311G	.	S	+	1	0	ADAMTS19	128889911	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	2.947000	0.49058	2.231000	0.72958	0.455000	0.32223	AGT		0.363	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		21	22	0	0	0	1	0	21	22				
L1CAM	3897	broad.mit.edu	37	X	153133835	153133835	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:153133835G>A	ENST00000370060.1	-	14	1814	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F|L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	542	Ig-like C2-type 6.		S -> P (in HSAS). {ECO:0000269|PubMed:9268105}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCAAAGGAGGCCTGGCA	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1624-1626)tCc>tTc		L1 cell adhesion molecule							145.0	148.0	147.0					X																	153133835		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133835G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1625C>T	X.37:g.153133835G>A	ENSP00000359077:p.Ser542Phe					L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F	p.S542F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			14	1814	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		542		S -> P (in HSAS).	Ig-like C2-type 6.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1625C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959316	0.53400	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.62	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.675760	0.13818	N	0.360635	T	0.61476	0.2350	L	0.48642	1.525	0.37691	D	0.92384	B;B;B	0.30179	0.166;0.271;0.2	B;B;B	0.36289	0.141;0.111;0.221	T	0.66571	-0.5890	10	0.66056	D	0.02	.	7.7644	0.28972	0.0:0.1724:0.6459:0.1817	.	537;542;542	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	542;544;542;544;537;537;542	ENSP00000359077:S542F;ENSP00000438430:S544F;ENSP00000359074:S542F;ENSP00000439645:S544F;ENSP00000354712:S537F;ENSP00000359072:S537F;ENSP00000355380:S542F	ENSP00000355380:S542F	S	-	2	0	L1CAM	152787029	0.878000	0.30173	1.000000	0.80357	0.997000	0.91878	1.527000	0.35975	2.374000	0.81015	0.529000	0.55759	TCC		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		72	108	0	0	0	1	0	72	108				
CEBPZ	10153	broad.mit.edu	37	2	37447581	37447581	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:37447581T>C	ENST00000234170.5	-	5	2246	c.2101A>G	c.(2101-2103)Aga>Gga	p.R701G		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	701					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGAGGGTTTCTACTGAATGGA	0.308																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2101-2103)Aga>Gga		CCAAT/enhancer binding protein (C/EBP), zeta							47.0	48.0	47.0					2																	37447581		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37447581T>C	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2101A>G	2.37:g.37447581T>C	ENSP00000234170:p.Arg701Gly						p.R701G	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			5	2246	-		all_hematologic(82;0.21)	701					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2101A>G	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740962	0.69304	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.26518	1.73	5.81	4.61	0.57282	Armadillo-type fold (1);CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73091	-0.4092	10	0.87932	D	0	.	13.5421	0.61681	0.0:0.0:0.1796:0.8204	.	701	Q03701	CEBPZ_HUMAN	G	701	ENSP00000234170:R701G	ENSP00000234170:R701G	R	-	1	2	CEBPZ	37301085	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.519000	0.53458	2.224000	0.72417	0.528000	0.53228	AGA		0.308	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	13	0	0	0	1	0	8	13				
LBP	3929	broad.mit.edu	37	20	36993276	36993276	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr20:36993276C>T	ENST00000217407.2	+	8	952	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	264					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCCTCCTTGCTGCAGTCATG	0.488																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(790-792)gCt>gTt		lipopolysaccharide binding protein							194.0	178.0	183.0					20																	36993276		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36993276C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.791C>T	20.37:g.36993276C>T	ENSP00000217407:p.Ala264Val						p.A264V	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			8	952	+		Myeloproliferative disorder(115;0.00878)	264					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.791C>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756515	0.69648	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.09911	2.93	5.55	4.61	0.57282	Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.320352	0.30285	N	0.009973	T	0.21550	0.0519	M	0.75264	2.295	0.09310	N	0.999995	P	0.38473	0.633	P	0.46208	0.507	T	0.04915	-1.0918	10	0.48119	T	0.1	-6.8801	12.1245	0.53909	0.0:0.9179:0.0:0.0821	.	264	P18428	LBP_HUMAN	V	264	ENSP00000217407:A264V	ENSP00000217407:A264V	A	+	2	0	LBP	36426690	0.012000	0.17670	0.103000	0.21229	0.031000	0.12232	2.130000	0.42064	1.580000	0.49851	0.655000	0.94253	GCT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		57	66	0	0	0	1	0	57	66				
AGBL2	79841	broad.mit.edu	37	11	47731973	47731973	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:47731973T>C	ENST00000525123.1	-	4	473	c.188A>G	c.(187-189)aAa>aGa	p.K63R	AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	63						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAAATCATCTTTTTCCCCAAG	0.433																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(187-189)aAa>aGa		ATP/GTP binding protein-like 2							150.0	139.0	143.0					11																	47731973		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47731973T>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.188A>G	11.37:g.47731973T>C	ENSP00000435582:p.Lys63Arg					AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			4	473	-			63					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.188A>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	0.961	-0.703265	0.03255	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41758	1.98;1.98;1.98;1.98;0.99;1.98;1.98	4.82	2.91	0.33838	.	0.714676	0.13307	N	0.397767	T	0.13586	0.0329	N	0.02111	-0.68	0.19575	N	0.999963	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32534	-0.9903	10	0.02654	T	1	-4.0637	6.331	0.21270	0.0:0.7102:0.1853:0.1045	.	63;63;63	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	R	63;63;63;63;63;63;43;63	ENSP00000435582:K63R;ENSP00000350228:K63R;ENSP00000298861:K63R;ENSP00000436630:K63R;ENSP00000436063:K63R;ENSP00000432264:K43R;ENSP00000436518:K63R	ENSP00000298861:K63R	K	-	2	0	AGBL2	47688549	0.964000	0.33143	0.934000	0.37439	0.569000	0.35902	0.688000	0.25422	0.439000	0.26476	-0.473000	0.04963	AAA		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		7	120	0	0	0	1	0	7	120				
USP6	9098	broad.mit.edu	37	17	5066179	5066179	+	Splice_Site	SNP	A	A	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:5066179A>G	ENST00000574788.1	+	33	5146	c.2916A>G	c.(2914-2916)agA>agG	p.R972R	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Splice_Site_p.R972R|USP6_ENST00000304328.5_Splice_Site_p.R655R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	972	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTTTTTAGATTTTGCAGAG	0.388			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.e33-1		ubiquitin specific peptidase 6 (Tre-2 oncogene)							96.0	104.0	101.0					17																	5066179		2203	4300	6503	SO:0001630	splice_region_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5066179A>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2916-1A>G	17.37:g.5066179A>G						USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R655_splice|USP6_ENST00000250066.6_Splice_Site_p.R972_splice	p.R972_splice			P35125	UBP6_HUMAN			33	5146	+			972					Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.2915_splice	CCDS11069.2																																																																																				0.388	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Silent	5	159	0	0	0	1	0	5	159				
TMEM19	55266	broad.mit.edu	37	12	72094726	72094726	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr12:72094726T>C	ENST00000266673.5	+	6	1556	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	321						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TCTGTTCTTATTGCCCTCTTG	0.463																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(961-963)aTt>aCt		transmembrane protein 19							287.0	249.0	262.0					12																	72094726		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72094726T>C	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.962T>C	12.37:g.72094726T>C	ENSP00000266673:p.Ile321Thr						p.I321T	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1556	+		Breast(359;0.0889)	321					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.962T>C	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	T	7.225	0.598067	0.13939	.	.	ENSG00000139291	ENST00000266673	.	.	.	5.93	4.79	0.61399	.	0.708441	0.14106	N	0.341037	T	0.42698	0.1214	N	0.21617	0.685	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.14476	-1.0471	9	0.19590	T	0.45	-4.199	11.9793	0.53111	0.0:0.0674:0.0:0.9326	.	321	Q96HH6	TMM19_HUMAN	T	321	.	ENSP00000266673:I321T	I	+	2	0	TMEM19	70380993	0.606000	0.26949	0.196000	0.23383	0.894000	0.52154	4.050000	0.57404	1.065000	0.40693	0.533000	0.62120	ATT		0.463	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		94	111	0	0	0	1	0	94	111				
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S	MEX3A_ENST00000442784.1_5'Flank|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1237-1242)tct>tc		mex-3 RNA binding family member A				33,3511		2,29,1741						-6.7	0.3			7	102,7534		2,98,3718	no	coding	MEX3A	NM_001093725.1		4,127,5459	A1A1,A1R,RR		1.3358,0.9312,1.2075				135,11045				SO:0001651	inframe_deletion	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046687_156046689delGAG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1239_1241delCTC	1.37:g.156046696_156046698delGAG	ENSP00000432845:p.Ser415del						p.SS413del	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1238_1240	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		413			Poly-Ser.			In_Frame_Del	DEL	ENST00000532414.2	37	c.1239_1241delCTC	CCDS53377.1																																																																																				0.744	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---
COLQ	8292	broad.mit.edu	37	3	15516986	15516986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:15516986delT	ENST00000383788.5	-	7	599	c.474delA	c.(472-474)aaafs	p.K158fs	COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383785.2_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	158	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCAGGTCACCTTTTTCACCCT	0.507																																						ENST00000383785.2																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(472-474)aafs		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							58.0	44.0	48.0					3																	15516986		2203	4300	6503	SO:0001589	frameshift_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15516986delT	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.474delA	3.37:g.15516986delT	ENSP00000373298:p.Lys158fs					COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs|COLQ_ENST00000383788.5_Frame_Shift_Del_p.K158fs	p.K158fs			Q9Y215	COLQ_HUMAN			7	599	-			158			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Frame_Shift_Del	DEL	ENST00000383788.5	37	c.474delA	CCDS33709.1																																																																																				0.507	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		2	4						2	4	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33372952	33372953	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:33372952_33372953delGA	ENST00000428849.2	+	7	1530_1531	c.1080_1081delGA	c.(1078-1083)ctgagtfs	p.S361fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	361	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGGGACCCTGAGTGGGGCACC	0.609																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1078-1083)ctgtfs		kinesin family member C1																																				SO:0001589	frameshift_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33372952_33372953delGA	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1080_1081delGA	6.37:g.33372952_33372953delGA	ENSP00000393963:p.Ser361fs						p.LS360fs	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			7	1530_1531	+			360			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Frame_Shift_Del	DEL	ENST00000428849.2	37	c.1080_1081delGA	CCDS34430.1																																																																																				0.609	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		55	60						55	60	---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155090103	155090105	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr7:155090103_155090105delGAT	ENST00000340368.4	+	2	319_321	c.108_110delGAT	c.(106-111)gagatg>gag	p.M37del	INSIG1_ENST00000342407.5_In_Frame_Del_p.M37del|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	37					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTTGGGGAGATGATCAACGTT	0.744																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(106-111)gag>ga		insulin induced gene 1																																				SO:0001651	inframe_deletion	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155090103_155090105delGAT		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.108_110delGAT	7.37:g.155090106_155090108delGAT	ENSP00000344741:p.Met37del					INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_In_Frame_Del_p.EM36del	p.EM36del	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	319_321	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	36					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	In_Frame_Del	DEL	ENST00000340368.4	37	c.108_110delGAT	CCDS5938.1																																																																																				0.744	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		4	3						4	3	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:14284600delA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaa	0.463																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600delA																													11.37:g.14284600delA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.463	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			3	4						3	4	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:23811405delC	ENST00000314520.3	+	1	952	c.476delC	c.(475-477)gccfs	p.A159fs	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(475-477)gcfs		makorin ring finger protein 3							25.0	27.0	27.0					15																	23811405		2203	4300	6503	SO:0001589	frameshift_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811405delC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.476delC	15.37:g.23811405delC	ENSP00000313881:p.Ala159fs					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.A159fs	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	952	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	159						Frame_Shift_Del	DEL	ENST00000314520.3	37	c.476delC	CCDS10013.1																																																																																				0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		8	14						8	14	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40368644	40368644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:40368644delA	ENST00000221347.6	-	28	12711	c.12704delT	c.(12703-12705)ctgfs	p.L4235fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4235	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGGGAGCCAGTGTGCCATT	0.642																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12703-12705)cgfs		Fc fragment of IgG binding protein							20.0	23.0	22.0					19																	40368644		2200	4273	6473	SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40368644delA	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12704delT	19.37:g.40368644delA	ENSP00000221347:p.Leu4235fs						p.L4235fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12711	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4235			VWFD 10.		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	c.12704delT	CCDS12546.1																																																																																				0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	81						28	81	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688782	26688783	+	Frame_Shift_Ins	INS	-	-	ACCCGGACCCC			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr22:26688782_26688783insACCCGGACCCC	ENST00000248933.6	+	2	600_601	c.505_506insACCCGGACCCC	c.(505-507)gacfs	p.-172fs	SEZ6L_ENST00000529632.2_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-172fs			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACCGGGGGACCCGGACCCC	0.668																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(505-507)cccfs		seizure related 6 homolog (mouse)-like																																				SO:0001589	frameshift_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688782_26688783insACCCGGACCCC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.506_516dupACCCGGACCCC	22.37:g.26688783_26688793dupACCCGGACCCC	ENSP00000248933:p.Pro172fs					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-168fs	p.-168fs	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	701_702	+								A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Frame_Shift_Ins	INS	ENST00000248933.6	37	c.505_506insACCCGGACCCC	CCDS13833.1																																																																																				0.668	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			11	40						11	40	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76940492	76940493	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:76940492_76940493insG	ENST00000373344.5	-	8	814_815	c.600_601insC	c.(598-603)tgctttfs	p.F201fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F163fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	201	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TAATACTTAAAGCAATTCTATT	0.292			"""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.(598-603)tgttaafs		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:76940492_76940493insG	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.601dupC	X.37:g.76940493_76940493dupG	ENSP00000362441:p.Phe201fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*163fs	p.*201fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	814_815	-			201			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.600_601insC	CCDS14434.1																																																																																				0.292	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		63	78						63	78	---	---	---	---
