#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
RANBP2	5903	broad.mit.edu	37	2	109384409	109384409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:109384409T>A	ENST00000283195.6	+	20	7540	c.7414T>A	c.(7414-7416)Tta>Ata	p.L2472I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2472					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAGCTGTATTAGAAGAAAC	0.428																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7414-7416)Tta>Ata		RAN binding protein 2							75.0	82.0	80.0					2																	109384409		2185	4246	6431	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384409T>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7414T>A	2.37:g.109384409T>A	ENSP00000283195:p.Leu2472Ile						p.L2472I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7540	+			2472					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7414T>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.267094	0.23136	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.36699	1.24	5.61	1.8	0.24995	.	.	.	.	.	T	0.38453	0.1041	M	0.69823	2.125	0.24952	N	0.991786	P	0.48294	0.908	B	0.44224	0.444	T	0.19386	-1.0307	9	0.44086	T	0.13	-10.9072	8.4531	0.32882	0.0:0.3965:0.0:0.6035	.	2472	P49792	RBP2_HUMAN	I	1496;2472	ENSP00000283195:L2472I	ENSP00000283195:L2472I	L	+	1	2	RANBP2	108750841	0.593000	0.26840	0.282000	0.24776	0.135000	0.20990	1.117000	0.31234	0.443000	0.26582	-0.467000	0.05162	TTA		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	456	0	0	0	1	0	6	456				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	9	0	0	0	1	0	4	9				
PPM1F	9647	broad.mit.edu	37	22	22285639	22285639	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:22285639C>T	ENST00000263212.5	-	6	877	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	PPM1F_ENST00000407142.1_Missense_Mutation_p.V90M|PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	258					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGCGCACACACACCTGTGGTG	0.622																																						ENST00000407142.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(268-270)Gtg>Atg		protein phosphatase, Mg2+/Mn2+ dependent, 1F							57.0	45.0	49.0					22																	22285639		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22285639C>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.772G>A	22.37:g.22285639C>T	ENSP00000263212:p.Val258Met					PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M|PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M	p.V90M			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	4	1328	-	Colorectal(54;0.105)		258					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.268G>A	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958764	0.92726	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.84	4.84	0.62591	Protein phosphatase 2C-like (5);	0.058583	0.64402	D	0.000002	T	0.61924	0.2386	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.75619	-0.3255	10	0.87932	D	0	-28.4068	18.5176	0.90941	0.0:1.0:0.0:0.0	.	154;258;258	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	M	258;90;90;154;258	ENSP00000263212:V258M;ENSP00000384930:V90M;ENSP00000439915:V154M;ENSP00000380632:V258M	ENSP00000263212:V258M	V	-	1	0	PPM1F	20615639	1.000000	0.71417	0.911000	0.35937	0.654000	0.38779	7.567000	0.82357	2.700000	0.92200	0.561000	0.74099	GTG		0.622	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		26	25	0	0	0	1	0	26	25				
ACVRL1	94	broad.mit.edu	37	12	52312879	52312879	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr12:52312879A>G	ENST00000388922.4	+	9	1640	c.1357A>G	c.(1357-1359)Aac>Gac	p.N453D	ACVRL1_ENST00000550683.1_Missense_Mutation_p.N467D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACCATCCCTAACCGGCTGGC	0.587																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1399-1401)Aac>Gac		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						97.0	78.0	84.0					12																	52312879		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312879A>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1357A>G	12.37:g.52312879A>G	ENSP00000373574:p.Asn453Asp					ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	p.N467D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1500	+			453			Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1399A>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149662	0.78001	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	T;T;T	0.63417	-0.04;-0.04;-0.04	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000459	T	0.61714	0.2369	N	0.08118	0	0.80722	D	1	B;D	0.89917	0.081;1.0	B;D	0.79108	0.228;0.992	T	0.70528	-0.4847	10	0.87932	D	0	.	13.9236	0.63948	1.0:0.0:0.0:0.0	.	279;453	E7EN07;P37023	.;ACVL1_HUMAN	D	453;453;467;279;279	ENSP00000373574:N453D;ENSP00000447884:N467D;ENSP00000392492:N279D	ENSP00000267008:N453D	N	+	1	0	ACVRL1	50599146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.196000	0.70406	0.459000	0.35465	AAC		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			3	41	0	0	0	1	0	3	41				
TBCD	6904	broad.mit.edu	37	17	80885834	80885834	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:80885834G>T	ENST00000355528.4	+	30	2793	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L	TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCTGGCTCGGAGCCAGCCT	0.637																																						ENST00000355528.4																			0											c.(2662-2664)cGg>cTg		tubulin folding cofactor D							58.0	62.0	61.0					17																	80885834		2054	4210	6264	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885834G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2663G>T	17.37:g.80885834G>T	ENSP00000347719:p.Arg888Leu					TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		30	2793	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	888					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2663G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	7.173	0.588107	0.13812	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.18016	2.24	5.17	-2.52	0.06346	Armadillo-like helical (1);Armadillo-type fold (1);	0.586050	0.18255	N	0.146813	T	0.17746	0.0426	M	0.73598	2.24	0.09310	N	1	P;B;P	0.37038	0.579;0.433;0.579	B;B;B	0.37144	0.178;0.062;0.242	T	0.11251	-1.0595	9	.	.	.	.	9.5381	0.39235	0.5389:0.0:0.4611:0.0	.	639;888;888	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	888;639	ENSP00000347719:R888L	.	R	+	2	0	TBCD	78479123	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.354000	0.07681	-0.474000	0.06862	-0.221000	0.12465	CGG		0.637	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		3	55	1	0	1	1	1	3	55				
MMRN1	22915	broad.mit.edu	37	4	90816388	90816388	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr4:90816388G>T	ENST00000394980.1	+	2	585	c.266G>T	c.(265-267)aGt>aTt	p.S89I	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I			Q13201	MMRN1_HUMAN	multimerin 1	89					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAGAAACAAGTGCACCTGCT	0.493																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(265-267)aGt>aTt		multimerin 1							71.0	69.0	69.0					4																	90816388		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816388G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.266G>T	4.37:g.90816388G>T	ENSP00000378431:p.Ser89Ile					MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I|MMRN1_ENST00000394981.1_Intron	p.S89I			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	585	+		Hepatocellular(203;0.114)	89					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.266G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342073	0.41498	.	.	ENSG00000138722	ENST00000394980;ENST00000264790	T;T	0.68765	-0.35;-0.35	4.55	0.678	0.17969	.	0.244180	0.28889	N	0.013818	T	0.55417	0.1919	L	0.46157	1.445	0.09310	N	1	P	0.41041	0.736	B	0.41988	0.372	T	0.50591	-0.8810	10	0.62326	D	0.03	.	5.2051	0.15287	0.19:0.3237:0.4863:0.0	.	89	Q13201	MMRN1_HUMAN	I	89	ENSP00000378431:S89I;ENSP00000264790:S89I	ENSP00000264790:S89I	S	+	2	0	MMRN1	91035411	0.006000	0.16342	0.000000	0.03702	0.015000	0.08874	1.563000	0.36364	-0.029000	0.13827	0.467000	0.42956	AGT		0.493	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		4	55	1	0	0.00909568	1	0.00966416	4	55				
DNM1P46	196968	broad.mit.edu	37	15	100339848	100339848	+	RNA	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:100339848C>T	ENST00000341853.1	-	0	1078					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGCAGCTAGGCGTCGTCCACG	0.637																																						ENST00000341853.1																			0																				46.0	43.0	44.0					15																	100339848		876	1991	2867			0							g.chr15:100339848C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339848C>T								NR_003260.1						0	1078	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.637	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		5	26	0	0	0	1	0	5	26				
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:102292953T>C	ENST00000561463.1	+	0	999									DNM1 pseudogene 47																		GGCACAGCGGTGCGACGAGAT	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102292953T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292953T>C														0	999	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	15	0	0	0	1	0	4	15				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	9	0	0	0	1	0	3	9				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G	rs370251849		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652																																						ENST00000391415.1																			2	Substitution - Missense(2)	p.S133R(1)|p.S121R(1)	lung(2)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(397-399)agC>agG		keratin associated protein 4-9							7.0	13.0	11.0					17																	39262039		676	1567	2243	SO:0001583	missense	100132386					keratin filament		g.chr17:39262039C>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.399C>G	17.37:g.39262039C>G	ENSP00000375234:p.Ser133Arg						p.S133R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	456	+			133			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.399C>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.997952	0.35226	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.38401	1.14	3.32	2.33	0.28932	.	11.718500	0.01159	U	0.006593	T	0.54679	0.1873	M	0.78223	2.4	0.32657	N	0.518627	P	0.49307	0.922	P	0.54100	0.742	T	0.30149	-0.9988	10	0.54805	T	0.06	.	5.7349	0.18061	0.0:0.7348:0.0:0.2652	.	133	Q9BYQ8	KRA49_HUMAN	R	121;133;124	ENSP00000375234:S133R	ENSP00000334461:S124R	S	+	3	2	KRTAP4-9	36515565	0.828000	0.29307	0.682000	0.30024	0.211000	0.24417	0.599000	0.24089	0.501000	0.28013	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		3	31	0	0	0	1	0	3	31				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	30	0	0	0	1	0	3	30				
RYR3	6263	broad.mit.edu	37	15	33955132	33955132	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:33955132G>A	ENST00000389232.4	+	35	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1801	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGATTACCCGAATCCGTCAA	0.512																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5401-5403)Gaa>Aaa		ryanodine receptor 3							156.0	161.0	160.0					15																	33955132		2013	4182	6195	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955132G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5401G>A	15.37:g.33955132G>A	ENSP00000373884:p.Glu1801Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5471	+		all_lung(180;7.18e-09)	1801			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5401G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856704	0.91433	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73897	-0.44;-0.79	4.98	4.98	0.66077	.	0.063428	0.64402	D	0.000008	D	0.87099	0.6093	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.956	D	0.88468	0.3060	10	0.87932	D	0	.	18.8041	0.92029	0.0:0.0:1.0:0.0	.	1801;1801	Q15413-2;Q15413	.;RYR3_HUMAN	K	1801	ENSP00000373884:E1801K;ENSP00000399610:E1801K	ENSP00000354735:E1801K	E	+	1	0	RYR3	31742424	1.000000	0.71417	0.985000	0.45067	0.783000	0.44284	9.349000	0.97066	2.758000	0.94735	0.563000	0.77884	GAA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	126	0	0	0	1	0	4	126				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>C		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.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	54	0	0	0	1	0	32	54				
C8orf34	116328	broad.mit.edu	37	8	69434080	69434080	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr8:69434080G>A	ENST00000539993.1	+	6	1103	c.554G>A	c.(553-555)gGa>gAa	p.G185E	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E|C8orf34_ENST00000337103.4_Missense_Mutation_p.G160E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	185										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CGTGTGATTGGAGAATGGATT	0.403																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(478-480)gGa>gAa		chromosome 8 open reading frame 34							93.0	89.0	91.0					8																	69434080		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434080G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.554G>A	8.37:g.69434080G>A	ENSP00000438159:p.Gly185Glu					C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR	p.G160E			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2071	+			185					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.479G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.815144	0.90790	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.57907	0.37;0.45;0.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.65975	2.015	0.50632	D	0.999886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70223	-0.4931	9	.	.	.	-19.0044	19.6482	0.95790	0.0:0.0:1.0:0.0	.	185;185	Q49A92;Q49A92-3	CH034_HUMAN;.	E	271;185;185;160	ENSP00000427820:G271E;ENSP00000438159:G185E;ENSP00000337174:G160E	.	G	+	2	0	C8orf34	69596634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	GGA		0.403	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		15	31	0	0	0	1	0	15	31				
BOC	91653	broad.mit.edu	37	3	112969621	112969621	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:112969621G>T	ENST00000495514.1	+	4	1021	c.317G>T	c.(316-318)tGt>tTt	p.C106F	BOC_ENST00000355385.3_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F|BOC_ENST00000273395.4_Missense_Mutation_p.C106F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	106	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGTACCAGTGTGTGGCCCGG	0.622																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(316-318)tGt>tTt		BOC cell adhesion associated, oncogene regulated							80.0	76.0	77.0					3																	112969621		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969621G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.317G>T	3.37:g.112969621G>T	ENSP00000418663:p.Cys106Phe					BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000355385.3_Missense_Mutation_p.C106F	p.C106F			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	1021	+			106			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.317G>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.819142	0.90873	.	.	ENSG00000144857	ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93230	0.6616	9	.	.	.	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	106;106;106	Q9BWV1-3;Q9BWV1;Q96DN7	.;BOC_HUMAN;.	F	106	ENSP00000418663:C106F;ENSP00000420154:C106F;ENSP00000273395:C106F;ENSP00000347546:C106F;ENSP00000417337:C106F	.	C	+	2	0	BOC	114452311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.331000	0.96430	2.688000	0.91661	0.550000	0.68814	TGT		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		6	31	1	0	0.00116845	1	0.00128152	6	31				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	53	0	0	0	1	0	3	53				
MPG	4350	broad.mit.edu	37	16	133194	133194	+	Silent	SNP	G	G	A	rs4986985	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr16:133194G>A	ENST00000219431.4	+	4	690	c.459G>A	c.(457-459)ccG>ccA	p.P153P	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.P136P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	153					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCATGAAGCCGGGGACCCTGT	0.632								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(457-459)ccG>ccA	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							121.0	128.0	125.0					16																	133194		2203	4300	6503	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133194G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.459G>A	16.37:g.133194G>A						MPG_ENST00000397817.1_Silent_p.P136P	p.P153P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	690	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	153					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.459G>A	CCDS32346.1																																																																																				0.632	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			17	190	0	0	0	1	0	17	190				
RFPL2	10739	broad.mit.edu	37	22	32588988	32588988	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:32588988G>A	ENST00000400237.1	-	4	1392	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000400236.3_Missense_Mutation_p.R63C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C			O75678	RFPL2_HUMAN	ret finger protein-like 2	153							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCCGATTGCGCCTGATTTTG	0.522																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(187-189)Cgc>Tgc		ret finger protein-like 2							108.0	108.0	108.0					22																	32588988		2203	4300	6503	SO:0001583	missense	10739						zinc ion binding	g.chr22:32588988G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.457C>T	22.37:g.32588988G>A	ENSP00000383096:p.Arg153Cys					RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C	p.R63C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			4	1392	-			153						Missense_Mutation	SNP	ENST00000400237.1	37	c.187C>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659794	0.14645	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	0.636	0.636	0.17729	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	P;B	0.45283	0.855;0.224	B;B	0.28305	0.088;0.01	T	0.22800	-1.0206	8	0.66056	D	0.02	.	.	.	.	.	153;92	O75678;O75678-3	RFPL2_HUMAN;.	C	92;63;63;153	ENSP00000248980:R92C;ENSP00000248983:R63C;ENSP00000383095:R63C;ENSP00000383096:R153C	ENSP00000248980:R92C	R	-	1	0	RFPL2	30918988	0.339000	0.24784	0.008000	0.14137	0.005000	0.04900	0.907000	0.28531	0.608000	0.30000	0.460000	0.39030	CGC		0.522	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		5	102	0	0	0	1	0	5	102				
CDO1	1036	broad.mit.edu	37	5	115142186	115142186	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr5:115142186T>C	ENST00000250535.4	-	4	989	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	145					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	GTATGGCTGATGTTCTCTACT	0.413																																						ENST00000250535.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.(433-435)Atc>Gtc		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)						105.0	95.0	98.0					5																	115142186		2202	4300	6502	SO:0001583	missense	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115142186T>C		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.433A>G	5.37:g.115142186T>C	ENSP00000250535:p.Ile145Val					CDO1_ENST00000502631.1_5'UTR	p.I145V	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	4	989	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)	145					B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	ENST00000250535.4	37	c.433A>G	CCDS4121.1	.	.	.	.	.	.	.	.	.	.	T	9.348	1.064754	0.20067	.	.	ENSG00000129596	ENST00000250535	T	0.39787	1.06	5.56	1.31	0.21738	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.426429	0.27744	N	0.018036	T	0.17152	0.0412	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	10	0.25106	T	0.35	-25.773	5.0633	0.14568	0.0:0.2938:0.2656:0.4406	.	145	Q16878	CDO1_HUMAN	V	145	ENSP00000250535:I145V	ENSP00000250535:I145V	I	-	1	0	CDO1	115170085	0.987000	0.35691	0.190000	0.23270	0.866000	0.49608	1.348000	0.33987	-0.010000	0.14271	0.459000	0.35465	ATC		0.413	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801		14	32	0	0	0	1	0	14	32				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	3	0	0	0	1	0	20	3				
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													c|||	2	0.000399361	0.0	0.0029	5008	,	,		22131	0.0		0.0	False		,,,				2504	0.0					ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(715-717)gaC>gaT		olfactory receptor, family 51, subfamily T, member 1		T		0,4402		0,0,2201	115.0	106.0	109.0		717	-1.6	0.7	11	dbSNP_134	109	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		239/355	4903765	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903765C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.636C>T	11.37:g.4903765C>T						MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000477339.1_Intron	p.D239D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	717	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.717C>T																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		8	73	0	0	0	1	0	8	73				
HNRNPCL1	343069	broad.mit.edu	37	1	12907676	12907676	+	Missense_Mutation	SNP	C	C	T	rs543878723		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:12907676C>T	ENST00000317869.6	-	2	692	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	156						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCACTTTTGCCCCTTCGTGA	0.507																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(466-468)gGc>gAc		heterogeneous nuclear ribonucleoprotein C-like 1							129.0	139.0	135.0					1																	12907676		2202	4298	6500	SO:0001583	missense	343069							g.chr1:12907676C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.467G>A	1.37:g.12907676C>T	ENSP00000365370:p.Gly156Asp						p.G156D	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	692	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.467G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.874110	0.33069	.	.	ENSG00000179172	ENST00000317869	T	0.11063	2.81	1.09	1.09	0.20402	.	0.187323	0.33732	U	0.004613	T	0.20700	0.0498	M	0.77820	2.39	0.34842	D	0.740779	D	0.63046	0.992	P	0.58520	0.84	T	0.37267	-0.9713	10	0.13470	T	0.59	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	156	O60812	HNRCL_HUMAN	D	156	ENSP00000365370:G156D	ENSP00000365370:G156D	G	-	2	0	HNRNPCL1	12830263	1.000000	0.71417	0.350000	0.25708	0.017000	0.09413	1.890000	0.39728	0.916000	0.36871	0.416000	0.27883	GGC		0.507	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		18	342	0	0	0	1	0	18	342				
KCNK2	3776	broad.mit.edu	37	1	215368303	215368303	+	Silent	SNP	C	C	T	rs149941939		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGGTGGATCCGATATTGAAT	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14416	0.0		0.0	False		,,,				2504	0.0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(829-831)tcC>tcT		potassium channel, subfamily K, member 2	Dofetilide(DB00204)	C	,,	2,4404	4.2+/-10.8	0,2,2201	176.0	176.0	176.0		819,831,786	-9.6	0.5	1	dbSNP_134	176	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,coding-synonymous	KCNK2	NM_001017424.2,NM_001017425.2,NM_014217.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	273/423,277/427,262/412	215368303	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215368303C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.831C>T	1.37:g.215368303C>T						KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	p.S277S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	981	+			277					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.831C>T	CCDS41467.1																																																																																				0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		19	139	0	0	0	1	0	19	139				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	40	0	0	0	1	0	3	40				
KCNA4	3739	broad.mit.edu	37	11	30033344	30033344	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:30033344C>G	ENST00000328224.6	-	2	2115	c.882G>C	c.(880-882)tgG>tgC	p.W294C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	294					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAAAGAGGAGCCAAATCTGCT	0.507																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(880-882)tgG>tgC		potassium voltage-gated channel, shaker-related subfamily, member 4							58.0	54.0	55.0					11																	30033344		1900	4119	6019	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033344C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.882G>C	11.37:g.30033344C>G	ENSP00000328511:p.Trp294Cys						p.W294C	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2115	-			294						Missense_Mutation	SNP	ENST00000328224.6	37	c.882G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589986	0.66105	.	.	ENSG00000182255	ENST00000328224	T	0.66638	-0.22	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91515	0.5230	10	0.87932	D	0	.	18.6691	0.91504	0.0:1.0:0.0:0.0	.	294	P22459	KCNA4_HUMAN	C	294	ENSP00000328511:W294C	ENSP00000328511:W294C	W	-	3	0	KCNA4	29989920	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.412000	0.81896	0.655000	0.94253	TGG		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	51	0	0	0	1	0	4	51				
ATRX	546	broad.mit.edu	37	X	76845304	76845304	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chrX:76845304C>T	ENST00000373344.5	-	27	6431	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	ATRX_ENST00000395603.3_Splice_Site_p.G2035S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2073	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						TGTAGCTCACCTTTATAAATA	0.323			"""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.e27+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						47.0	45.0	46.0					X																	76845304		2203	4292	6495	SO:0001630	splice_region_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:76845304C>T	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.6217+1G>A	X.37:g.76845304C>T						ATRX_ENST00000395603.3_Splice_Site_p.G2035_splice|ATRX_ENST00000480283.1_5'UTR	p.G2073_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			27	6431	-			2073			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.6217_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839775	0.71488	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.14;-3.15	5.28	5.28	0.74379	Helicase, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.95098	0.8412	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.953	D	0.94471	0.7685	9	.	.	.	-8.7698	17.6331	0.88114	0.0:1.0:0.0:0.0	.	2035;2073	P46100-4;P46100	.;ATRX_HUMAN	S	2073;2035	ENSP00000362441:G2073S;ENSP00000378967:G2035S	.	G	-	1	0	ATRX	76731960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.372000	0.79612	2.200000	0.70718	0.523000	0.50628	GGT		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	22	2	0	0	0	1	0	22	2				
RAI1	10743	broad.mit.edu	37	17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2488-2490)Gag>Aag		retinoic acid induced 1							21.0	27.0	25.0					17																	17698750		2199	4295	6494	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698750G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2488G>A	17.37:g.17698750G>A	ENSP00000323074:p.Glu830Lys					RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2957	+			830					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2488G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433669	0.43224	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.3;0.16	5.37	4.4	0.53042	.	0.313591	0.30639	N	0.009191	T	0.57431	0.2053	L	0.57536	1.79	0.36301	D	0.857034	P	0.40681	0.727	B	0.27262	0.078	T	0.68500	-0.5392	10	0.51188	T	0.08	.	14.1992	0.65690	0.0727:0.0:0.9273:0.0	.	830	Q7Z5J4	RAI1_HUMAN	K	830;830;830;830;830;782	ENSP00000323074:E830K;ENSP00000379120:E830K;ENSP00000261641:E830K	ENSP00000261641:E830K	E	+	1	0	RAI1	17639475	1.000000	0.71417	0.879000	0.34478	0.385000	0.30292	6.910000	0.75741	1.265000	0.44215	0.561000	0.74099	GAG		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	11	0	0	0	1	0	7	11				
MST1L	11223	broad.mit.edu	37	1	17085171	17085171	+	RNA	SNP	T	T	C	rs200931593|rs3982157	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:17085171T>C	ENST00000455405.2	-	0	105							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTCGTAACCTGGGGGGGTCC	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17085171T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085171T>C														0	105	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	1.242	-0.621120	0.03636	.	.	ENSG00000186715	ENST00000389184	.	.	.	.	.	.	.	.	.	.	.	T	0.15176	0.0366	.	.	.	.	.	.	.	.	.	.	.	.	T	0.40117	-0.9580	2	0.02654	T	1	.	.	.	.	.	.	.	.	D	434	.	ENSP00000445850:N434D	N	-	1	0	MST1P9	16957758	0.979000	0.34478	0.000000	0.03702	0.000000	0.00434	0.453000	0.21811	0.000000	0.14550	0.000000	0.15137	AAC		0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	26	0	0	0	1	0	3	26				
CD86	942	broad.mit.edu	37	3	121838286	121838287	+	Splice_Site	INS	-	-	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:121838286_121838287insA	ENST00000330540.2	+	7	1011_1012	c.895_896insA	c.(895-897)gaa>gAaa	p.E299fs	CD86_ENST00000393627.2_Splice_Site_p.E293fs|CD86_ENST00000264468.5_Splice_Site_p.E86fs|CD86_ENST00000493101.1_Splice_Site_p.E187fs|CD86_ENST00000469710.1_Splice_Site_p.E217fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	299					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TTTCTCCAGAGAAAAAATCCAT	0.337																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.e7-1		CD86 molecule	Abatacept(DB01281)																																			SO:0001630	splice_region_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121838286_121838287insA		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.894-1->A	3.37:g.121838292_121838292dupA						CD86_ENST00000264468.5_Splice_Site_p.K86_splice|CD86_ENST00000493101.1_Splice_Site_p.K187_splice|CD86_ENST00000469710.1_Splice_Site_p.K217_splice|CD86_ENST00000393627.2_Splice_Site_p.K293_splice	p.K299_splice	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1011_1012	+			299					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Splice_Site	INS	ENST00000330540.2	37	c.893_splice	CCDS3009.1																																																																																				0.337	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	Frame_Shift_Ins	34	56						34	56	---	---	---	---
