#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
C9orf114	51490	broad.mit.edu	37	9	131586077	131586077	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr9:131586077G>C	ENST00000361256.5	-	11	1051	c.1011C>G	c.(1009-1011)gaC>gaG	p.D337E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	337							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						TGACGTACAGGTCAAAGAGGA	0.642																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(1009-1011)gaC>gaG		chromosome 9 open reading frame 114							52.0	41.0	45.0					9																	131586077		2202	4300	6502	SO:0001583	missense	51490							g.chr9:131586077G>C		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.1011C>G	9.37:g.131586077G>C	ENSP00000354812:p.Asp337Glu						p.D337E	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			11	1051	-			337					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	c.1011C>G	CCDS6913.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.109508|3.109508	0.56398|0.56398	.|.	.|.	ENSG00000198917|ENSG00000198917	ENST00000361256|ENST00000372618	T|.	0.57907|.	0.37|.	5.4|5.4	-0.211|-0.211	0.13172|0.13172	.|.	.|0.923918	.|0.09275	.|N	.|0.824671	T|T	0.70263|0.70263	0.3204|0.3204	M|M	0.71206|0.71206	2.165|2.165	0.41937|0.41937	D|D	0.990597|0.990597	D|.	0.58268|.	0.982|.	P|.	0.60949|.	0.881|.	T|T	0.69394|0.69394	-0.5157|-0.5157	9|7	0.48119|0.72032	T|D	0.1|0.01	0.1321|0.1321	10.3168|10.3168	0.43743|0.43743	0.3746:0.0:0.6254:0.0|0.3746:0.0:0.6254:0.0	.|.	337|.	Q5T280|.	CI114_HUMAN|.	E|S	337|336	ENSP00000354812:D337E|.	ENSP00000354812:D337E|ENSP00000361701:T336S	D|T	-|-	3|2	2|0	C9orf114|C9orf114	130625898|130625898	1.000000|1.000000	0.71417|0.71417	0.680000|0.680000	0.29994|0.29994	0.530000|0.530000	0.34684|0.34684	2.277000|2.277000	0.43417|0.43417	-0.072000|-0.072000	0.12864|0.12864	0.462000|0.462000	0.41574|0.41574	GAC|ACC		0.642	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		4	10	0	0	0	0.150653	0	4	10				
EMILIN2	84034	broad.mit.edu	37	18	2913269	2913269	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr18:2913269T>C	ENST00000254528.3	+	8	3188	c.3029T>C	c.(3028-3030)cTc>cCc	p.L1010P	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1010	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCACCTCATCGTGCAC	0.592																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(3028-3030)cTc>cCc		elastin microfibril interfacer 2							48.0	49.0	49.0					18																	2913269		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2913269T>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.3029T>C	18.37:g.2913269T>C	ENSP00000254528:p.Leu1010Pro					EMILIN2_ENST00000308080.5_3'UTR	p.L1010P	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	8	3188	+			1010			C1q.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.3029T>C	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490052	0.64074	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.76186	-1.0	5.61	5.61	0.85477	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.64402	D	0.000004	D	0.87943	0.6305	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89655	0.3872	10	0.62326	D	0.03	-26.2086	16.1054	0.81216	0.0:0.0:0.0:1.0	.	1010	Q9BXX0	EMIL2_HUMAN	P	1010;287	ENSP00000254528:L1010P	ENSP00000254528:L1010P	L	+	2	0	EMILIN2	2903269	1.000000	0.71417	0.873000	0.34254	0.244000	0.25665	7.606000	0.82863	2.266000	0.75297	0.533000	0.62120	CTC		0.592	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		32	57	0	0	0	0.750413	0	32	57				
PLA2G4A	5321	broad.mit.edu	37	1	186948459	186948459	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:186948459A>G	ENST00000367466.3	+	17	2125	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E598G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	658	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTTCCAAGGGAAACTGAGGAA	0.333																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1972-1974)gAa>gGa		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						81.0	78.0	79.0					1																	186948459		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186948459A>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1973A>G	1.37:g.186948459A>G	ENSP00000356436:p.Glu658Gly					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E598G	p.E658G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			17	2125	+			658			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1973A>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335424	0.41398	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.12569	2.67;2.67	5.7	5.7	0.88788	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.090259	0.85682	D	0.000000	T	0.14270	0.0345	L	0.35723	1.085	0.47009	D	0.999289	B;B	0.19935	0.04;0.033	B;B	0.23419	0.046;0.033	T	0.02958	-1.1089	10	0.48119	T	0.1	-25.3262	15.1411	0.72612	1.0:0.0:0.0:0.0	.	598;658	E7EU42;P47712	.;PA24A_HUMAN	G	658;598	ENSP00000356436:E658G;ENSP00000406892:E598G	ENSP00000356436:E658G	E	+	2	0	PLA2G4A	185215082	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.742000	0.62103	2.165000	0.68154	0.460000	0.39030	GAA		0.333	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		8	140	0	0	0	0.307466	0	8	140				
ZFX	7543	broad.mit.edu	37	X	24229263	24229263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:24229263C>T	ENST00000379177.1	+	11	2615	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q501*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q769*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q730*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q680*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q730*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	730					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGATTTAGGCAACAGAGTGA	0.408																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2188-2190)Caa>Taa		zinc finger protein, X-linked							225.0	194.0	205.0					X																	24229263		2203	4300	6503	SO:0001587	stop_gained	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229263C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2188C>T	X.37:g.24229263C>T	ENSP00000368475:p.Gln730*					ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q501*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q680*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q730*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q730*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q769*	p.Q730*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2615	+			730					B9EG97|O43668|Q8WYJ8	Nonsense_Mutation	SNP	ENST00000379177.1	37	c.2188C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661740	0.96734	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	.	.	.	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.3779	16.9062	0.86128	0.0:1.0:0.0:0.0	.	.	.	.	X	501;730;452;730;730;769;680	.	ENSP00000304985:Q730X	Q	+	1	0	ZFX	24139184	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	3.682000	0.54656	1.994000	0.58287	0.594000	0.82650	CAA		0.408	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		10	167	0	0	0	0.361761	0	10	167				
OR8I2	120586	broad.mit.edu	37	11	55860898	55860898	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:55860898G>C	ENST00000302124.2	+	1	146	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTATTCACTGTTTTGGGAAA	0.378																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(115-117)Gtt>Ctt		olfactory receptor, family 8, subfamily I, member 2							218.0	211.0	213.0					11																	55860898		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860898G>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.115G>C	11.37:g.55860898G>C	ENSP00000303864:p.Val39Leu					OR8I2_ENST00000560768.1_Missense_Mutation_p.V39L	p.V39L			Q8N0Y5	OR8I2_HUMAN			1	146	+	Esophageal squamous(21;0.00693)		39					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.115G>C	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.293078	0.00245	.	.	ENSG00000172154	ENST00000302124	T	0.00640	6.03	4.5	-1.3	0.09259	.	0.674457	0.12064	U	0.502920	T	0.00241	0.0007	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	10	0.20519	T	0.43	-7.8748	2.0143	0.03494	0.4172:0.1251:0.3308:0.1269	.	39	Q8N0Y5	OR8I2_HUMAN	L	39	ENSP00000303864:V39L	ENSP00000303864:V39L	V	+	1	0	OR8I2	55617474	0.000000	0.05858	0.026000	0.17262	0.013000	0.08279	-1.930000	0.01557	-0.202000	0.10268	-2.416000	0.00220	GTT		0.378	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		157	314	0	0	0	0.870114	0	157	314				
B3GAT3	26229	broad.mit.edu	37	11	62389342	62389342	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:62389342C>A	ENST00000265471.5	-	1	305	c.78G>T	c.(76-78)caG>caT	p.Q26H	B3GAT3_ENST00000531383.1_Missense_Mutation_p.Q26H|B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q26H	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	26					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						gcTCACCGAGCTGTACCAGCG	0.721																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(76-78)caG>caT		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							28.0	26.0	27.0					11																	62389342		2199	4288	6487	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389342C>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.78G>T	11.37:g.62389342C>A	ENSP00000265471:p.Gln26His					B3GAT3_ENST00000265471.5_Missense_Mutation_p.Q26H|B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q26H	p.Q26H			O94766	B3GA3_HUMAN			1	284	-			26					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.78G>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834458	0.71373	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64618	-0.09;-0.1;-0.11;0.63	4.78	2.92	0.33932	.	0.245070	0.34828	U	0.003641	T	0.63604	0.2525	L	0.39898	1.24	0.42278	D	0.992085	D;P	0.61697	0.99;0.61	D;B	0.72982	0.979;0.191	T	0.59123	-0.7513	10	0.14252	T	0.57	.	6.7379	0.23419	0.0:0.7903:0.0:0.2097	.	26;26	B7ZAB3;O94766	.;B3GA3_HUMAN	H	26	ENSP00000265471:Q26H;ENSP00000431359:Q26H;ENSP00000432474:Q26H;ENSP00000432854:Q26H	ENSP00000265471:Q26H	Q	-	3	2	B3GAT3	62145918	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.256000	0.58810	0.627000	0.30340	0.549000	0.68633	CAG		0.721	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		4	25	1	0	0.00909568	0.150653	0.0101658	4	25				
ZMAT3	64393	broad.mit.edu	37	3	178748788	178748788	+	Splice_Site	SNP	C	C	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:178748788C>G	ENST00000311417.2	-	3	1012		c.e3-1		ZMAT3_ENST00000432729.1_Splice_Site	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GATTTTTACCCTAGAAATAAA	0.398																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.e3-1		zinc finger, matrin-type 3							72.0	71.0	71.0					3																	178748788		2203	4300	6503	SO:0001630	splice_region_variant	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178748788C>G	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.271-1G>C	3.37:g.178748788C>G						ZMAT3_ENST00000432729.1_Splice_Site		NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		3	1012	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)								Splice_Site	SNP	ENST00000311417.2	37		CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625719	0.66901	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMAT3	180231482	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	6.453000	0.73488	2.551000	0.86045	0.650000	0.86243	.		0.398	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240	Intron	44	72	0	0	0	0.847076	0	44	72				
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1624-1626)Cga>Tga		AT rich interactive domain 2 (ARID, RFX-like)							109.0	103.0	105.0					12																	46242662		2202	4299	6501	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46242662C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1624C>T	12.37:g.46242662C>T	ENSP00000335044:p.Arg542*					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*	p.R542*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	13	1796	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	542					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.1624C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.054521	0.98629	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-12.1077	19.9772	0.97314	0.0:1.0:0.0:0.0	.	.	.	.	X	542;393;152	.	ENSP00000335044:R542X	R	+	1	2	ARID2	44528929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.742000	0.68646	2.724000	0.93272	0.563000	0.77884	CGA		0.343	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		46	91	0	0	0	0.853193	0	46	91				
KIAA1377	57562	broad.mit.edu	37	11	101818852	101818852	+	Missense_Mutation	SNP	G	G	A	rs567302421	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:101818852G>A	ENST00000263468.8	+	4	755	c.485G>A	c.(484-486)cGt>cAt	p.R162H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	162										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCCTTTTCCCGTAGACCAACA	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14417	0.0		0.0	False		,,,				2504	0.001					ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(484-486)cGt>cAt		KIAA1377							69.0	68.0	68.0					11																	101818852		2203	4298	6501	SO:0001583	missense	57562						protein binding	g.chr11:101818852G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.485G>A	11.37:g.101818852G>A	ENSP00000263468:p.Arg162His						p.R162H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	4	755	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	162					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.485G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	4.884	0.164277	0.09287	.	.	ENSG00000110318	ENST00000263468	T	0.05649	3.41	5.4	3.08	0.35506	.	0.608060	0.17020	N	0.190152	T	0.01421	0.0046	N	0.00116	-2.08	0.54753	D	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.15952	T	0.53	-3.2148	10.347	0.43911	0.9158:0.0:0.0842:0.0	.	162	Q9P2H0	K1377_HUMAN	H	162	ENSP00000263468:R162H	ENSP00000263468:R162H	R	+	2	0	KIAA1377	101324062	0.089000	0.21612	0.917000	0.36280	0.029000	0.11900	1.507000	0.35758	0.439000	0.26476	-0.960000	0.02634	CGT		0.348	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		44	72	0	0	0	0.847076	0	44	72				
CHD6	84181	broad.mit.edu	37	20	40045243	40045243	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr20:40045243C>T	ENST00000373233.3	-	33	6648	c.6471G>A	c.(6469-6471)gcG>gcA	p.A2157A	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTGGGCCGCCAATGCTG	0.552																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6469-6471)gcG>gcA		chromodomain helicase DNA binding protein 6							97.0	86.0	90.0					20																	40045243		2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045243C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6471G>A	20.37:g.40045243C>T							p.A2157A	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			33	6648	-		Myeloproliferative disorder(115;0.00425)	2157					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.6471G>A	CCDS13317.1																																																																																				0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			79	161	0	0	0	0.870114	0	79	161				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	129	0	0	0	0.150653	0	4	129				
ZNF324B	388569	broad.mit.edu	37	19	58966477	58966477	+	Intron	SNP	C	C	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:58966477C>A	ENST00000336614.4	+	4	345				ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000391696.1_Missense_Mutation_p.P46T	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCCCTTGCCTGTCCACTC	0.587																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(136-138)Cct>Act		zinc finger protein 324B																																				SO:0001627	intron_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966477C>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.239-73C>A	19.37:g.58966477C>A						ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron	p.P46T			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1068	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	197			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.136C>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688787	0.14973	.	.	ENSG00000249471	ENST00000391696	T	0.09073	3.02	2.53	1.44	0.22558	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43212	-0.9405	7	.	.	.	.	8.7495	0.34607	0.2262:0.7738:0.0:0.0	.	46	C9JTQ8	.	T	46	ENSP00000375578:P46T	.	P	+	1	0	ZNF324B	63658289	0.000000	0.05858	0.014000	0.15608	0.063000	0.16089	-0.140000	0.10342	0.587000	0.29643	0.491000	0.48974	CCT		0.587	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		35	65	1	0	1.36615e-20	0.769981	1.55741e-20	35	65				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000420246.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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"""		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)aGa>aAa	Other conserved DNA damage response genes	tumor protein p53							77.0	67.0	70.0					17																	7577099		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.chr17:7577099C>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.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys	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_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	p.R280K	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	971	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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.839G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		64	20	0	0	0	0.870114	0	64	20				
LVRN	206338	broad.mit.edu	37	5	115336874	115336874	+	Silent	SNP	C	C	T	rs568228499		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:115336874C>T	ENST00000357872.4	+	10	1882	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	AQPEP_ENST00000395528.2_Silent_p.G103G	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		586						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TGTCTACTGGCGTCATGAAAC	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19101	0.0		0.0	False		,,,				2504	0.0					ENST00000357872.4																			0											c.(1756-1758)ggC>ggT									118.0	117.0	118.0					5																	115336874		2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115336874C>T																												ENST00000357872.4:c.1758C>T	5.37:g.115336874C>T						AQPEP_ENST00000395528.2_Silent_p.G103G	p.G586G	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			10	1882	+			586					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1758C>T	CCDS4124.1																																																																																				0.398	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			8	266	0	0	0	0.278610	0	8	266				
EXOC2	55770	broad.mit.edu	37	6	564075	564075	+	Nonsense_Mutation	SNP	G	G	A	rs370825321		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:564075G>A	ENST00000230449.4	-	16	1882	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.R178*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	583					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CAACGTACTCGGAGATCCAAG	0.458																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(1747-1749)Cga>Tga		exocyst complex component 2							141.0	119.0	127.0					6																	564075		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:564075G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1747C>T	6.37:g.564075G>A	ENSP00000230449:p.Arg583*					EXOC2_ENST00000448181.3_Nonsense_Mutation_p.R178*	p.R583*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	16	1882	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	583					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.1747C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	41	8.544103	0.98857	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7165	13.3661	0.60684	0.0:0.0:0.7247:0.2753	.	.	.	.	X	583;178	.	ENSP00000230449:R583X	R	-	1	2	EXOC2	509075	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.682000	0.61671	2.717000	0.92951	0.585000	0.79938	CGA		0.458	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		3	94	0	0	0	0.184627	0	3	94				
UTRN	7402	broad.mit.edu	37	6	144872125	144872125	+	Missense_Mutation	SNP	C	C	T	rs114254210		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:144872125C>T	ENST00000367545.3	+	47	6835	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2279					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTAGAACAGCGCCATCCTCA	0.338																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(6835-6837)Cgc>Tgc		utrophin							83.0	81.0	82.0					6																	144872125		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144872125C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6835C>T	6.37:g.144872125C>T	ENSP00000356515:p.Arg2279Cys						p.R2279C	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	47	6835	+		Ovarian(120;0.218)	2279					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.6835C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308508	0.81247	.	.	ENSG00000152818	ENST00000367545	T	0.52754	0.65	5.48	5.48	0.80851	.	0.000000	0.52532	D	0.000080	T	0.64951	0.2645	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68209	-0.5469	10	0.87932	D	0	.	19.3494	0.94377	0.0:1.0:0.0:0.0	.	2279	P46939	UTRO_HUMAN	C	2279	ENSP00000356515:R2279C	ENSP00000356515:R2279C	R	+	1	0	UTRN	144913818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.297000	0.59061	2.564000	0.86499	0.460000	0.39030	CGC		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			45	108	0	0	0	0.853193	0	45	108				
KCNH7	90134	broad.mit.edu	37	2	163302583	163302583	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:163302583T>C	ENST00000332142.5	-	7	1598	c.1499A>G	c.(1498-1500)gAc>gGc	p.D500G	KCNH7_ENST00000328032.4_Missense_Mutation_p.D493G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	500					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCAACCATGTCAATCAGGAA	0.353																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1498-1500)gAc>gGc		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						102.0	93.0	96.0					2																	163302583		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302583T>C	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1499A>G	2.37:g.163302583T>C	ENSP00000331727:p.Asp500Gly					KCNH7_ENST00000328032.4_Missense_Mutation_p.D493G	p.D500G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			7	1598	-			500					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1499A>G	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544585	0.86022	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99868	-7.32;-7.32	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99919	0.9962	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95982	0.8978	10	0.87932	D	0	.	15.9661	0.79970	0.0:0.0:0.0:1.0	.	493;500	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	G	500;493	ENSP00000331727:D500G;ENSP00000333781:D493G	ENSP00000333781:D493G	D	-	2	0	KCNH7	163010829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.182000	0.69389	0.528000	0.53228	GAC		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		4	123	0	0	0	0.184627	0	4	123				
C17orf62	79415	broad.mit.edu	37	17	80407088	80407088	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:80407088G>C	ENST00000437807.2	-	3	360	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	C17orf62_ENST00000578913.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578919.1_Missense_Mutation_p.L15V|C17orf62_ENST00000306645.5_Missense_Mutation_p.L15V|C17orf62_ENST00000336995.7_De_novo_Start_OutOfFrame|C17orf62_ENST00000585080.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583617.1_Missense_Mutation_p.L15V|C17orf62_ENST00000434650.2_Missense_Mutation_p.L15V|C17orf62_ENST00000577436.1_Missense_Mutation_p.L15V|C17orf62_ENST00000585064.1_Missense_Mutation_p.L15V|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000577732.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583359.1_5'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	15						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCCTCTTCAGATGGAGGCGG	0.617																																						ENST00000336995.7																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8								chromosome 17 open reading frame 62							29.0	25.0	26.0					17																	80407088		2194	4297	6491	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80407088G>C	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.43C>G	17.37:g.80407088G>C	ENSP00000388909:p.Leu15Val					C17orf62_ENST00000437807.2_Missense_Mutation_p.L15V|C17orf62_ENST00000577436.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.L15V|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000578919.1_Missense_Mutation_p.L15V|C17orf62_ENST00000434650.2_Missense_Mutation_p.L15V|C17orf62_ENST00000583617.1_Missense_Mutation_p.L15V|C17orf62_ENST00000585064.1_Missense_Mutation_p.L15V|C17orf62_ENST00000585080.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578913.1_Missense_Mutation_p.L15V|C17orf62_ENST00000306645.5_Missense_Mutation_p.L15V				Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		0	119	-	Breast(20;0.00106)|all_neural(118;0.0804)							E1B6X3|Q96NR1	Translation_Start_Site	SNP	ENST00000437807.2	37		CCDS32776.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974725	0.74360	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.77350	0.4117	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.83275	0.992;0.996	T	0.81097	-0.1087	8	0.87932	D	0	.	14.7133	0.69249	0.0:0.0:1.0:0.0	.	15;15	E1B6X3;Q9BQA9	.;CQ062_HUMAN	V	15	.	ENSP00000307765:L15V	L	-	1	2	C17orf62	78000377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.528000	0.53524	1.786000	0.52430	0.491000	0.48974	CTG		0.617	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		11	3	0	0	0	0.411799	0	11	3				
OR11H4	390442	broad.mit.edu	37	14	20710969	20710969	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr14:20710969G>C	ENST00000315409.2	+	1	72	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTCTTTGTAGACTTAAGACC	0.418																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(19-21)Gac>Cac		olfactory receptor, family 11, subfamily H, member 4							78.0	71.0	73.0					14																	20710969		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20710969G>C		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.19G>C	14.37:g.20710969G>C	ENSP00000318997:p.Asp7His						p.D7H	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	72	+	all_cancers(95;0.000888)		7					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.19G>C	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	3.222	-0.159270	0.06544	.	.	ENSG00000176198	ENST00000315409	T	0.06449	3.3	4.5	2.58	0.30949	.	2.719450	0.01701	N	0.027182	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.34264	0.446	B	0.33196	0.159	T	0.37820	-0.9689	10	0.17832	T	0.49	-0.2191	5.7407	0.18092	0.1083:0.1986:0.693:0.0	.	7	Q8NGC9	O11H4_HUMAN	H	7	ENSP00000318997:D7H	ENSP00000318997:D7H	D	+	1	0	OR11H4	19780809	0.526000	0.26298	0.007000	0.13788	0.280000	0.26924	1.506000	0.35747	0.474000	0.27392	0.655000	0.94253	GAC		0.418	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			4	98	0	0	0	0.217242	0	4	98				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	125	0	0	0	0.150653	0	4	125				
SENP7	57337	broad.mit.edu	37	3	101177814	101177814	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:101177814T>G	ENST00000394095.2	-	4	322	c.269A>C	c.(268-270)aAg>aCg	p.K90T	SENP7_ENST00000394091.1_Missense_Mutation_p.K57T|SENP7_ENST00000358203.3_Missense_Mutation_p.K57T|SENP7_ENST00000314261.7_Missense_Mutation_p.K90T|SENP7_ENST00000348610.3_Missense_Mutation_p.K57T|Y_RNA_ENST00000364684.1_RNA|SENP7_ENST00000394094.2_Missense_Mutation_p.K90T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	90				K -> R (in Ref. 3; CAB66534). {ECO:0000305}.		intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGATGACTTGGAAGTAAC	0.358																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(268-270)aAg>aCg		SUMO1/sentrin specific peptidase 7							235.0	224.0	227.0					3																	101177814		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101177814T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.269A>C	3.37:g.101177814T>G	ENSP00000377655:p.Lys90Thr					SENP7_ENST00000348610.3_Missense_Mutation_p.K57T|SENP7_ENST00000394094.2_Missense_Mutation_p.K90T|SENP7_ENST00000394091.1_Missense_Mutation_p.K57T|SENP7_ENST00000358203.3_Missense_Mutation_p.K57T|SENP7_ENST00000314261.7_Missense_Mutation_p.K90T	p.K90T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			4	322	-			90	K -> R (in Ref. 3; CAB66534).				A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.269A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	7.203	0.593947	0.13875	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.44881	2.04;1.88;0.91;1.95;1.95;2.05	4.44	0.805	0.18703	.	1.610190	0.03858	N	0.273524	T	0.48572	0.1507	N	0.24115	0.695	0.09310	N	0.999996	P;P;D;D	0.76494	0.9;0.9;0.999;0.998	P;P;D;D	0.80764	0.628;0.628;0.994;0.987	T	0.38373	-0.9664	10	0.54805	T	0.06	-2.2011	5.5643	0.17163	0.0:0.3838:0.0:0.6162	.	57;90;57;90	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	T	90;90;90;57;57;57	ENSP00000377655:K90T;ENSP00000377654:K90T;ENSP00000313624:K90T;ENSP00000377651:K57T;ENSP00000350936:K57T;ENSP00000342159:K57T	ENSP00000313624:K90T	K	-	2	0	SENP7	102660504	0.989000	0.36119	0.061000	0.19648	0.020000	0.10135	0.743000	0.26231	0.268000	0.21939	-0.250000	0.11733	AAG		0.358	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		75	368	0	0	0	0.870114	0	75	368				
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(862-864)Ggt>Agt		spermatogenic leucine zipper 1							98.0	94.0	95.0					5																	79616896		1862	4099	5961	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616896G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.862G>A	5.37:g.79616896G>A	ENSP00000369611:p.Gly288Ser						p.G288S	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1107	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	288					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.862G>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131774	0.06753	.	.	ENSG00000164299	ENST00000296739	T	0.28666	1.6	4.25	-0.192	0.13248	.	1.236250	0.05780	N	0.608379	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.27773	-1.0064	10	0.08599	T	0.76	-7.8873	6.8479	0.23998	0.0:0.2187:0.6341:0.1472	.	288	Q9BXG8	SPZ1_HUMAN	S	288	ENSP00000369611:G288S	ENSP00000369611:G288S	G	+	1	0	SPZ1	79652652	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.763000	0.00784	-0.040000	0.13580	-0.474000	0.04947	GGT		0.413	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		68	118	0	0	0	0.870114	0	68	118				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	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			45	96	0	0	0	0.859065	0	45	96				
AGK	55750	broad.mit.edu	37	7	141301025	141301025	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:141301025A>C	ENST00000355413.4	+	5	502	c.242A>C	c.(241-243)gAa>gCa	p.E81A	AGK_ENST00000535825.1_Missense_Mutation_p.E78A|AGK_ENST00000473247.1_Missense_Mutation_p.E53A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	81	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ACTCTATTTGAAAAAAATGCT	0.363																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(241-243)gAa>gCa		acylglycerol kinase							77.0	81.0	79.0					7																	141301025		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141301025A>C	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.242A>C	7.37:g.141301025A>C	ENSP00000347581:p.Glu81Ala					AGK_ENST00000473247.1_Missense_Mutation_p.E53A|AGK_ENST00000535825.1_Missense_Mutation_p.E78A	p.E81A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			5	502	+	Melanoma(164;0.0171)		81			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.242A>C	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550700	0.86127	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.20332	2.5;2.5;2.08	5.68	5.68	0.88126	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	D	0.69479	0.964	T	0.16247	-1.0409	10	0.40728	T	0.16	.	14.8984	0.70659	1.0:0.0:0.0:0.0	.	81	Q53H12	AGK_HUMAN	A	81;53;78	ENSP00000347581:E81A;ENSP00000420776:E53A;ENSP00000444349:E78A	ENSP00000347581:E81A	E	+	2	0	AGK	140947494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.521000	0.81832	2.163000	0.67991	0.482000	0.46254	GAA		0.363	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		22	135	0	0	0	0.654019	0	22	135				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	35	0	0	0	0.115264	0	3	35				
SLC23A3	151295	broad.mit.edu	37	2	220034279	220034279	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:220034279C>T	ENST00000409878.3	-	2	316	c.284G>A	c.(283-285)gGt>gAt	p.G95D	SLC23A3_ENST00000396775.3_Missense_Mutation_p.G37D|SLC23A3_ENST00000295738.7_Missense_Mutation_p.G95D|SLC23A3_ENST00000455516.2_Missense_Mutation_p.G95D	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	95					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTAGACATACCACATGAAAA	0.582																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(283-285)gGt>gAt		solute carrier family 23, member 3							126.0	133.0	131.0					2																	220034279		1958	4147	6105	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220034279C>T	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.284G>A	2.37:g.220034279C>T	ENSP00000386473:p.Gly95Asp					SLC23A3_ENST00000295738.7_Missense_Mutation_p.G95D|SLC23A3_ENST00000409878.3_Missense_Mutation_p.G95D|SLC23A3_ENST00000396775.3_Missense_Mutation_p.G37D	p.G95D	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	331	-		Renal(207;0.0474)	95					B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.284G>A	CCDS46518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.260761|3.260761	0.59431|0.59431	.|.	.|.	ENSG00000213901|ENSG00000213901	ENST00000430764|ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370	.|T;T;T;T;T	.|0.39056	.|1.1;1.1;1.1;1.1;1.1	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.69922	.|0.3165	M|M	0.87971|0.87971	2.92|2.92	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	.|T	.|0.74140	.|-0.3761	.|9	.|.	.|.	.|.	.|.	17.6308|17.6308	0.88106|0.88106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|95;95;95	.|Q6PIS1;B7Z512;Q6PIS1-2	.|S23A3_HUMAN;.;.	.|D	-1|37;95;95;95;95	.|ENSP00000379996:G37D;ENSP00000295738:G95D;ENSP00000386473:G95D;ENSP00000406546:G95D;ENSP00000386989:G95D	.|.	.|G	-|-	.|2	.|0	SLC23A3|SLC23A3	219742523|219742523	0.997000|0.997000	0.39634|0.39634	0.963000|0.963000	0.40424|0.40424	0.982000|0.982000	0.71751|0.71751	4.785000|4.785000	0.62418|0.62418	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	.|GGT		0.582	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		97	240	0	0	0	0.870114	0	97	240				
CACNA2D3	55799	broad.mit.edu	37	3	55052339	55052339	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:55052339C>T	ENST00000474759.1	+	35	3030	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.C994C|CACNA2D3_ENST00000490478.1_Silent_p.C900C|CACNA2D3_ENST00000288197.5_Silent_p.C994C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	994						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GTGAAGACTGCTCCAAGTAAG	0.502																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2980-2982)tgC>tgT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							76.0	74.0	75.0					3																	55052339		1965	4161	6126	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55052339C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2982C>T	3.37:g.55052339C>T						CACNA2D3_ENST00000415676.2_Silent_p.C994C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.C900C|CACNA2D3_ENST00000288197.5_Silent_p.C994C	p.C994C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	35	3030	+			994					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2982C>T	CCDS54598.1																																																																																				0.502	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			16	33	0	0	0	0.479597	0	16	33				
HNF1B	6928	broad.mit.edu	37	17	36099519	36099519	+	Silent	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36099519C>T	ENST00000225893.4	-	2	817	c.456G>A	c.(454-456)caG>caA	p.Q152Q	HNF1B_ENST00000561193.1_Silent_p.Q152Q|HNF1B_ENST00000560016.1_Silent_p.Q152Q|HNF1B_ENST00000427275.2_Silent_p.Q152Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	152					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGAGATGCTGGGAGAGGT	0.552																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(454-456)caG>caA		HNF1 homeobox B							161.0	140.0	147.0					17																	36099519		2203	4300	6503	SO:0001819	synonymous_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36099519C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.456G>A	17.37:g.36099519C>T						HNF1B_ENST00000561193.1_Silent_p.Q152Q|HNF1B_ENST00000427275.2_Silent_p.Q152Q|HNF1B_ENST00000560016.1_Silent_p.Q152Q	p.Q152Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		2	817	-		Breast(25;0.00765)|Ovarian(249;0.15)	152					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.456G>A	CCDS11324.1																																																																																				0.552	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		3	140	0	0	0	0.115264	0	3	140				
HEATR2	54919	broad.mit.edu	37	7	813720	813720	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:813720A>G	ENST00000297440.6	+	10	1987	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G	HEATR2_ENST00000403952.3_Missense_Mutation_p.D81G|HEATR2_ENST00000313147.5_Missense_Mutation_p.D656G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	656						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGACAAAGGACATCCTGGCC	0.642																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1966-1968)gAc>gGc		HEAT repeat containing 2							107.0	108.0	108.0					7																	813720		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:813720A>G	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1967A>G	7.37:g.813720A>G	ENSP00000297440:p.Asp656Gly					HEATR2_ENST00000403952.3_Missense_Mutation_p.D81G|HEATR2_ENST00000313147.5_Missense_Mutation_p.D656G	p.D656G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	10	1987	+		Ovarian(82;0.0112)	656					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1967A>G	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579508	0.65878	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.65549	-0.16;-0.16;-0.16	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.092628	0.64402	D	0.000001	T	0.78039	0.4221	M	0.81239	2.535	0.47862	D	0.999535	D;D;D	0.69078	0.967;0.991;0.997	P;P;D	0.65010	0.765;0.79;0.931	T	0.78610	-0.2137	10	0.37606	T	0.19	-51.1525	15.1532	0.72717	1.0:0.0:0.0:0.0	.	656;81;402	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	G	656;656;402;81	ENSP00000297440:D656G;ENSP00000321451:D656G;ENSP00000384884:D81G	ENSP00000297440:D656G	D	+	2	0	HEATR2	780246	1.000000	0.71417	0.994000	0.49952	0.205000	0.24178	6.190000	0.72057	2.062000	0.61559	0.459000	0.35465	GAC		0.642	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		55	151	0	0	0	0.870114	0	55	151				
AFP	174	broad.mit.edu	37	4	74303981	74303981	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:74303981A>C	ENST00000395792.2	+	3	328	c.228A>C	c.(226-228)aaA>aaC	p.K76N	AFP_ENST00000226359.2_Missense_Mutation_p.K76N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	76	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATTGAGAAACCCACTggag	0.363									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(226-228)aaA>aaC		alpha-fetoprotein							100.0	97.0	98.0					4																	74303981		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74303981A>C	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.228A>C	4.37:g.74303981A>C	ENSP00000379138:p.Lys76Asn					AFP_ENST00000226359.2_Missense_Mutation_p.K76N	p.K76N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	328	+	Breast(15;0.00102)		76			Albumin 1.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.228A>C	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508154	0.44660	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.50001	0.76;0.76	5.02	1.16	0.20824	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.184789	0.45606	D	0.000342	T	0.51329	0.1668	M	0.69358	2.11	0.09310	N	0.999998	P	0.49307	0.922	P	0.52386	0.697	T	0.42378	-0.9455	10	0.48119	T	0.1	.	6.8667	0.24098	0.7234:0.0:0.2766:0.0	.	76	P02771	FETA_HUMAN	N	76	ENSP00000379138:K76N;ENSP00000226359:K76N	ENSP00000226359:K76N	K	+	3	2	AFP	74522845	0.261000	0.24063	0.014000	0.15608	0.012000	0.07955	0.610000	0.24253	0.063000	0.16370	-0.290000	0.09829	AAA		0.363	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			23	112	0	0	0	0.608945	0	23	112				
TTN	7273	broad.mit.edu	37	2	179456089	179456089	+	Silent	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:179456089G>A	ENST00000591111.1	-	254	55664	c.55440C>T	c.(55438-55440)acC>acT	p.T18480T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T11248T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.T20121T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T11181T|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.T11056T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T17553T			Q8WZ42	TITIN_HUMAN	titin	18480	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTCATCGGTTTTAATCT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60361-60363)acC>acT		titin							339.0	333.0	335.0					2																	179456089		1927	4137	6064	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456089G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55440C>T	2.37:g.179456089G>A						TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T11248T|TTN_ENST00000591111.1_Silent_p.T18480T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T17553T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T11056T|TTN_ENST00000359218.5_Silent_p.T11181T|TTN-AS1_ENST00000590932.1_RNA	p.T20121T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60587	-			18480			Fibronectin type-III 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60363C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		276	534	0	0	0	0.870114	0	276	534				
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(793-795)Cgg>Tgg		potassium channel, subfamily V, member 1							80.0	68.0	72.0					8																	110984685		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984685G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.793C>T	8.37:g.110984685G>A	ENSP00000435954:p.Arg265Trp					KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W	p.R265W			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1825	-	all_neural(195;0.219)		265					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.793C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273335	0.40194	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97772	-4.53;-4.53	5.7	2.48	0.30137	Ion transport (1);	0.126345	0.48767	D	0.000164	D	0.97841	0.9291	M	0.63208	1.945	0.35069	D	0.762328	D	0.76494	0.999	P	0.60473	0.875	D	0.99950	1.1533	10	0.72032	D	0.01	.	14.8744	0.70483	0.0:0.0:0.5211:0.4789	.	265	Q6PIU1	KCNV1_HUMAN	W	265;265;141	ENSP00000435954:R265W;ENSP00000297404:R265W	ENSP00000297404:R265W	R	-	1	2	KCNV1	111053861	0.753000	0.28349	1.000000	0.80357	0.997000	0.91878	0.606000	0.24194	0.706000	0.31912	0.557000	0.71058	CGG		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		12	172	0	0	0	0.411799	0	12	172				
FUT6	2528	broad.mit.edu	37	19	5832317	5832317	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:5832317C>T	ENST00000318336.4	-	3	1456	c.262G>A	c.(262-264)Gct>Act	p.A88T	FUT6_ENST00000527106.1_Missense_Mutation_p.A88T|FUT6_ENST00000286955.5_Missense_Mutation_p.A88T|FUT6_ENST00000524754.1_Missense_Mutation_p.A88T|FUT6_ENST00000592563.1_Missense_Mutation_p.A88T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	88					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TTGCAGTCAGCCGTGCCAGGC	0.622																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(262-264)Gct>Act		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							73.0	68.0	70.0					19																	5832317		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832317C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.262G>A	19.37:g.5832317C>T	ENSP00000313398:p.Ala88Thr					FUT6_ENST00000592563.1_Missense_Mutation_p.A88T|FUT6_ENST00000527106.1_Missense_Mutation_p.A88T|FUT6_ENST00000524754.1_Missense_Mutation_p.A88T|FUT6_ENST00000286955.5_Missense_Mutation_p.A88T	p.A88T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1456	-			88					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.262G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538355	0.27475	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	3.09	0.556	0.17253	.	0.606688	0.13917	N	0.353802	T	0.12263	0.0298	N	0.16368	0.405	0.09310	N	1	B;B	0.20368	0.044;0.022	B;B	0.25140	0.058;0.034	T	0.34304	-0.9834	10	0.15066	T	0.55	.	4.6537	0.12606	0.0:0.475:0.3814:0.1435	.	88;88	C9J8A2;P51993	.;FUT6_HUMAN	T	88	ENSP00000431708:A88T;ENSP00000432954:A88T;ENSP00000313398:A88T;ENSP00000286955:A88T;ENSP00000436547:A88T	ENSP00000286955:A88T	A	-	1	0	FUT6	5783317	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.798000	0.04565	0.580000	0.29522	0.436000	0.28706	GCT		0.622	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		4	116	0	0	0	0.184627	0	4	116				
TRIM52	84851	broad.mit.edu	37	5	180687093	180687093	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:180687093T>C	ENST00000327767.4	-	1	1026	c.722A>G	c.(721-723)gAc>gGc	p.D241G	TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000417281.2_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|CTC-338M12.4_ENST00000506340.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	241					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GGCCTCTTTGTCCACCTCACA	0.542																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(721-723)gAc>gGc		tripartite motif containing 52							130.0	125.0	127.0					5																	180687093		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687093T>C		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.722A>G	5.37:g.180687093T>C	ENSP00000332152:p.Asp241Gly					TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	p.D241G	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	1026	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	241						Missense_Mutation	SNP	ENST00000327767.4	37	c.722A>G	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	t	17.89	3.500053	0.64298	.	.	ENSG00000183718	ENST00000327767	T	0.50813	0.73	3.29	2.02	0.26589	Zinc finger, B-box (3);	.	.	.	.	T	0.74772	0.3760	H	0.96748	3.875	0.34037	D	0.65452	D	0.89917	1.0	D	0.97110	1.0	T	0.79210	-0.1897	9	0.87932	D	0	.	7.0866	0.25261	0.2026:0.0:0.0:0.7974	.	241	Q96A61	TRI52_HUMAN	G	241	ENSP00000332152:D241G	ENSP00000332152:D241G	D	-	2	0	TRIM52	180619699	1.000000	0.71417	0.519000	0.27824	0.925000	0.55904	4.131000	0.57970	0.388000	0.25054	0.418000	0.28097	GAC		0.542	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		107	171	0	0	0	0.870114	0	107	171				
PLXNA1	5361	broad.mit.edu	37	3	126724979	126724979	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:126724979C>T	ENST00000393409.2	+	7	1955	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A629V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	652					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAGAAGTTTGCGTCTGTGGAC	0.602																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1954-1956)gCg>gTg		plexin A1							217.0	192.0	200.0					3																	126724979		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126724979C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1955C>T	3.37:g.126724979C>T	ENSP00000377061:p.Ala652Val					PLXNA1_ENST00000251772.4_Missense_Mutation_p.A629V	p.A652V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	1955	+			652						Missense_Mutation	SNP	ENST00000393409.2	37	c.1955C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	7.290	0.610850	0.14066	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.08807	3.05;3.05	3.37	3.37	0.38596	.	0.111138	0.37809	N	0.001926	T	0.06645	0.0170	L	0.45051	1.395	0.58432	D	0.99999	B	0.33826	0.427	B	0.28011	0.085	T	0.09314	-1.0680	10	0.02654	T	1	.	15.3182	0.74099	0.0:1.0:0.0:0.0	.	652	Q9UIW2	PLXA1_HUMAN	V	652;629	ENSP00000377061:A652V;ENSP00000251772:A629V	ENSP00000251772:A629V	A	+	2	0	PLXNA1	128207669	1.000000	0.71417	0.216000	0.23742	0.868000	0.49771	5.882000	0.69714	1.914000	0.55421	0.467000	0.42956	GCG		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	205	0	0	0	0.184627	0	5	205				
MED13L	23389	broad.mit.edu	37	12	116460278	116460278	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:116460278G>A	ENST00000281928.3	-	5	814	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	203						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGTGCAGGTGAAGACTGAGC	0.473																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(607-609)tCa>tTa		mediator complex subunit 13-like							126.0	109.0	114.0					12																	116460278		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116460278G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.608C>T	12.37:g.116460278G>A	ENSP00000281928:p.Ser203Leu						p.S203L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	5	814	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		203					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.608C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366654	0.82463	.	.	ENSG00000123066	ENST00000281928	T	0.78595	-1.19	5.75	5.75	0.90469	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89460	0.3736	10	0.87932	D	0	.	19.9199	0.97084	0.0:0.0:1.0:0.0	.	203	Q71F56	MD13L_HUMAN	L	203	ENSP00000281928:S203L	ENSP00000281928:S203L	S	-	2	0	MED13L	114944661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.714000	0.92807	0.655000	0.94253	TCA		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			13	34	0	0	0	0.457914	0	13	34				
COG5	10466	broad.mit.edu	37	7	107002756	107002756	+	Silent	SNP	T	T	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:107002756T>C	ENST00000347053.3	-	9	1088	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	COG5_ENST00000393603.2_Silent_p.G346G|COG5_ENST00000297135.3_Silent_p.G346G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	346					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TATTTACCTGTCCACAAACAG	0.393																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(1036-1038)ggA>ggG		component of oligomeric golgi complex 5							75.0	74.0	74.0					7																	107002756		2203	4300	6503	SO:0001819	synonymous_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107002756T>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1038A>G	7.37:g.107002756T>C						COG5_ENST00000347053.3_Silent_p.G346G|COG5_ENST00000297135.3_Silent_p.G346G	p.G346G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			9	1309	-			346					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.1038A>G	CCDS5743.1																																																																																				0.393	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			12	83	0	0	0	0.387290	0	12	83				
RPP25	54913	broad.mit.edu	37	15	75248608	75248608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr15:75248608C>T	ENST00000322177.5	-	1	1197	c.317G>A	c.(316-318)tGg>tAg	p.W106*	RPP25_ENST00000499788.2_Nonsense_Mutation_p.W106*	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	106					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GAGGCTCTGCCACACCTCGCG	0.692																																						ENST00000322177.5																			0				breast(1)|lung(1)	2						c.(316-318)tGg>tAg		ribonuclease P/MRP 25kDa subunit							7.0	10.0	9.0					15																	75248608		2163	4231	6394	SO:0001587	stop_gained	54913				tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	g.chr15:75248608C>T	AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"""RNase P protein subunit p25"""		"""ribonuclease P 25kDa subunit"""			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.317G>A	15.37:g.75248608C>T	ENSP00000317691:p.Trp106*					RPP25_ENST00000499788.2_Nonsense_Mutation_p.W106*	p.W106*	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN			1	1197	-			106					D3DW70|Q9NX88	Nonsense_Mutation	SNP	ENST00000322177.5	37	c.317G>A	CCDS10274.1	.	.	.	.	.	.	.	.	.	.	C	37	6.070666	0.97256	.	.	ENSG00000178718	ENST00000322177;ENST00000499788	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2734	0.90076	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000317691:W106X	W	-	2	0	RPP25	73035661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.385000	0.79763	2.652000	0.90054	0.655000	0.94253	TGG		0.692	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286413.1	NM_017793		2	5	0	0	0	0.115264	0	2	5				
SRCIN1	80725	broad.mit.edu	37	17	36714502	36714502	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36714502C>T	ENST00000264659.7	-	11	2386	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R755H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	593					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTTGAGATAGCGCAGCCGTTC	0.701											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2161-2163)cGc>cAc		SRC kinase signaling inhibitor 1							47.0	54.0	52.0					17																	36714502		2084	4206	6290	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36714502C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2162G>A	17.37:g.36714502C>T	ENSP00000264659:p.Arg721His		OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	865	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R755H	p.R721H	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			11	2386	-			593					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2162G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012977	0.54468	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.51574	0.7	4.9	3.92	0.45320	.	0.134505	0.50627	D	0.000103	T	0.26340	0.0643	N	0.12746	0.255	0.43662	D	0.99608	B;B;B;B	0.26147	0.143;0.038;0.038;0.015	B;B;B;B	0.16289	0.015;0.007;0.007;0.005	T	0.09930	-1.0652	10	0.44086	T	0.13	-16.6199	9.0744	0.36513	0.0:0.8266:0.0:0.1734	.	27;593;593;721	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	H	721;502;575	ENSP00000264659:R721H	ENSP00000264659:R721H	R	-	2	0	SRCIN1	33968028	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	2.819000	0.48049	2.273000	0.75805	0.455000	0.32223	CGC		0.701	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		41	49	0	0	0	0.840704	0	41	49				
FZR1	51343	broad.mit.edu	37	19	3532532	3532532	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:3532532G>C	ENST00000395095.3	+	10	1126	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	FZR1_ENST00000313639.8_Missense_Mutation_p.G287R|FZR1_ENST00000441788.2_Missense_Mutation_p.G376R	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	376					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGGGGCGGCACAGCTGA	0.652																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1126-1128)Ggc>Cgc		fizzy/cell division cycle 20 related 1 (Drosophila)							36.0	36.0	36.0					19																	3532532		2201	4300	6501	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3532532G>C	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1126G>C	19.37:g.3532532G>C	ENSP00000378529:p.Gly376Arg					FZR1_ENST00000395095.3_Missense_Mutation_p.G376R|FZR1_ENST00000313639.8_Missense_Mutation_p.G287R	p.G376R	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1362	+			376					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.1126G>C	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.938855	0.73557	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.28895	1.59;1.59;5.01	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.83740	0.0203	10	0.87932	D	0	-43.4236	17.0096	0.86401	0.0:0.0:1.0:0.0	.	376;287;376	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	R	376;376;287	ENSP00000410369:G376R;ENSP00000378529:G376R;ENSP00000321800:G287R	ENSP00000321800:G287R	G	+	1	0	FZR1	3483532	1.000000	0.71417	0.980000	0.43619	0.245000	0.25701	9.512000	0.98008	2.353000	0.79882	0.537000	0.68136	GGC		0.652	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		7	53	0	0	0	0.248553	0	7	53				
PAQR9	344838	broad.mit.edu	37	3	142683080	142683081	+	5'Flank	DEL	GT	GT	-	rs111904975|rs140368075|rs376529411		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:142683080_142683081delGT	ENST00000340634.3	-	0	0				RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						gtgtgtgttagtgtgtgtgtgt	0.584																																						ENST00000478823.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:142683080_142683081delGT	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313		3.37:g.142683090_142683091delGT	Exception_encountered					RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA								0	79_80	+								Q147T6	RNA	DEL	ENST00000340634.3	37		CCDS3128.1																																																																																				0.584	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		2	4						2	4	---	---	---	---
RPL34-AS1	285456	broad.mit.edu	37	4	109512924	109512925	+	lincRNA	INS	-	-	AG	rs397977573|rs555079328|rs60609975		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:109512924_109512925insAG	ENST00000507248.1	-	0	90					NR_026968.1				RPL34 antisense RNA 1 (head to head)																		aagaaagaaaaagagagagaga	0.351																																						ENST00000507248.1																			0																																																			0							g.chr4:109512924_109512925insAG			4q25	2014-06-09	2012-10-15		ENSG00000234492	ENSG00000234492		"""Long non-coding RNAs"""	26749	non-coding RNA	RNA, long non-coding			"""RPL34 antisense RNA 1 (non-protein coding)"", ""RPL34 antisense RNA 1"""			24908062	Standard	NR_026968		Approved	FLJ37673, RP11-462C24.1	uc011cfl.1		OTTHUMG00000161030		4.37:g.109512933_109512934dupAG								NR_026968.1						0	90	-									RNA	INS	ENST00000507248.1	37																																																																																						0.351	RPL34-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363481.1			6	4						6	4	---	---	---	---
RP11-526A4.1	0	broad.mit.edu	37	4	150633499	150633500	+	lincRNA	DEL	CA	CA	-	rs35704697|rs3085129	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:150633499_150633500delCA	ENST00000511993.1	-	0	763				RP11-707F2.1_ENST00000505781.1_lincRNA																							TGTCAATGTTcacacacacaca	0.455														769	0.153554	0.3464	0.049	5008	,	,		23412	0.0665		0.0358	False		,,,				2504	0.1779					ENST00000511993.1																			0																																																			0							g.chr4:150633499_150633500delCA																													4.37:g.150633509_150633510delCA														0	763	-									RNA	DEL	ENST00000511993.1	37																																																																																						0.455	RP11-526A4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364766.1			3	3						3	3	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:145886722_145886723insA	ENST00000296702.5	+	19	2900_2901	c.2862_2863insA	c.(2863-2865)aaafs	p.K955fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.K934fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	955	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2860-2865)acaaaafs		transcription elongation regulator 1																																				SO:0001589	frameshift_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886722_145886723insA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2870dupA	5.37:g.145886730_145886730dupA	ENSP00000296702:p.Lys955fs					TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs	p.TK954fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2900_2901	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	954					Q2NKN2|Q59EA1	Frame_Shift_Ins	INS	ENST00000296702.5	37	c.2862_2863insA	CCDS4282.1																																																																																				0.376	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		7	247						7	247	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	9						5	9	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39585513	39585514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr13:39585513_39585514insT	ENST00000352251.3	-	13	3656_3657	c.2823_2824insA	c.(2821-2826)agtgggfs	p.G942fs	PROSER1_ENST00000350125.3_Frame_Shift_Ins_p.G920fs|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	942																	CACTGCCACCCACTCTGGGACA	0.46																																						ENST00000352251.3																			0											c.(2821-2826)agggtgfs		proline and serine rich 1																																				SO:0001589	frameshift_variant	80209							g.chr13:39585513_39585514insT	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2823_2824insA	13.37:g.39585513_39585514insT	ENSP00000332034:p.Gly942fs					PROSER1_ENST00000350125.3_Frame_Shift_Ins_p.V920fs|PROSER1_ENST00000484434.2_5'UTR	p.V942fs	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			13	3656_3657	-			942					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Frame_Shift_Ins	INS	ENST00000352251.3	37	c.2823_2824insA	CCDS9368.2																																																																																				0.460	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		12	182						12	182	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		9	31						9	31	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939929	76939930	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:76939929_76939930insA	ENST00000373344.5	-	9	1032_1033	c.818_819insT	c.(817-819)ttgfs	p.L273fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L235fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	273	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						CCAAGTCCAACAAAGGCTCTGG	0.381			"""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.(817-819)tttfs		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:76939929_76939930insA	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.819dupT	X.37:g.76939932_76939932dupA	ENSP00000362441:p.Leu273fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F235fs|ATRX_ENST00000480283.1_5'UTR	p.F273fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1032_1033	-			273			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.818_819insT	CCDS14434.1																																																																																				0.381	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		232	122						232	122	---	---	---	---
