#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
APOB	338	broad.mit.edu	37	2	21263858	21263858	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:21263858A>C	ENST00000233242.1	-	4	462	c.335T>G	c.(334-336)tTg>tGg	p.L112W	APOB_ENST00000399256.4_Missense_Mutation_p.L112W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	112	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTTCAGCAAGGCTTTGCC	0.527																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(334-336)tTg>tGg		apolipoprotein B	Atorvastatin(DB01076)						105.0	85.0	92.0					2																	21263858		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21263858A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.335T>G	2.37:g.21263858A>C	ENSP00000233242:p.Leu112Trp					APOB_ENST00000399256.4_Missense_Mutation_p.L112W	p.L112W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			4	462	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		112			Heparin-binding.|Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.335T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578186	0.65878	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.41400	1.0;1.0	4.9	3.74	0.42951	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.277119	0.24167	N	0.040924	T	0.57169	0.2035	L	0.59436	1.845	0.34249	D	0.678546	D	0.89917	1.0	D	0.78314	0.991	T	0.68262	-0.5455	10	0.72032	D	0.01	.	9.9424	0.41589	0.917:0.0:0.083:0.0	.	112	P04114	APOB_HUMAN	W	112	ENSP00000233242:L112W;ENSP00000382200:L112W	ENSP00000233242:L112W	L	-	2	0	APOB	21117363	0.996000	0.38824	0.917000	0.36280	0.936000	0.57629	3.550000	0.53691	0.824000	0.34613	0.533000	0.62120	TTG		0.527	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	18	0	0	0	1	0	5	18				
UBAP2	55833	broad.mit.edu	37	9	33933502	33933502	+	Silent	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:33933502G>A	ENST00000379238.1	-	18	2211	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	UBAP2_ENST00000449054.1_Silent_p.L698L|SNORD121B_ENST00000458838.1_RNA|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAGCTGAGAGAGAGGGCTGC	0.592																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2092-2094)ctC>ctT		ubiquitin associated protein 2							82.0	68.0	73.0					9																	33933502		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33933502G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2094C>T	9.37:g.33933502G>A						UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L	p.L698L			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	18	2211	-			698						Silent	SNP	ENST00000379238.1	37	c.2094C>T	CCDS6547.1																																																																																				0.592	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		7	20	0	0	0	1	0	7	20				
MAMLD1	10046	broad.mit.edu	37	X	149639254	149639254	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:149639254A>G	ENST00000370401.2	+	4	1719	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	470					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTGCCACAGCAGTCCTTC	0.592																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1408-1410)cAg>cGg		mastermind-like domain containing 1							70.0	69.0	69.0					X																	149639254		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639254A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1409A>G	X.37:g.149639254A>G	ENSP00000359428:p.Gln470Arg					MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R	p.Q470R			Q13495	MAMD1_HUMAN			4	1719	+	Acute lymphoblastic leukemia(192;6.56e-05)		470					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1409A>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929500	0.52759	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.83289	0.5222	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.992	D;D;D;D	0.87578	0.997;0.979;0.998;0.979	D	0.84169	0.0433	9	.	.	.	-18.2954	14.8113	0.69996	1.0:0.0:0.0:0.0	.	432;445;445;470	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	432;470;445;470;445	ENSP00000359428:Q470R;ENSP00000414517:Q445R;ENSP00000262858:Q470R;ENSP00000397438:Q445R	.	Q	+	2	0	MAMLD1	149389912	1.000000	0.71417	0.991000	0.47740	0.335000	0.28730	5.389000	0.66255	1.879000	0.54435	0.486000	0.48141	CAG		0.592	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		13	107	0	0	0	1	0	13	107				
PCDHB3	56132	broad.mit.edu	37	5	140481350	140481350	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:140481350C>G	ENST00000231130.2	+	1	1117	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	373	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCTGATCTAGACTCTGG	0.458																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1117-1119)Cta>Gta									91.0	86.0	88.0					5																	140481350		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481350C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1117C>G	5.37:g.140481350C>G	ENSP00000231130:p.Leu373Val					AC005754.7_ENST00000607216.1_RNA	p.L373V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1117	+			373			Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1117C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	7.788	0.711020	0.15239	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.93	1.52	0.23074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45677	0.1354	M	0.67953	2.075	0.09310	N	1	B	0.26708	0.157	B	0.33121	0.158	T	0.46105	-0.9215	9	0.54805	T	0.06	.	5.9342	0.19156	0.1437:0.6636:0.0:0.1927	.	373	Q9Y5E6	PCDB3_HUMAN	V	373	ENSP00000231130:L373V	ENSP00000231130:L373V	L	+	1	2	PCDHB3	140461534	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	-0.861000	0.04268	0.047000	0.15862	-0.181000	0.13052	CTA		0.458	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		11	42	0	0	0	1	0	11	42				
CBLN4	140689	broad.mit.edu	37	20	54573643	54573643	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:54573643C>T	ENST00000064571.2	-	3	1876	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGCCAGAAAACGTGGAATACT	0.443																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(574-576)acG>acA		cerebellin 4 precursor							114.0	106.0	109.0					20																	54573643		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54573643C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.576G>A	20.37:g.54573643C>T							p.T192T	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1876	-			192			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.576G>A	CCDS13448.1																																																																																				0.443	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		15	90	0	0	0	1	0	15	90				
PRDM10	56980	broad.mit.edu	37	11	129784846	129784846	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr11:129784846G>A	ENST00000360871.3	-	17	2825	c.2594C>T	c.(2593-2595)aCa>aTa	p.T865I	PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000358825.5_Missense_Mutation_p.T869I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	869					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCAGTGGTGTGTGTATGGT	0.512																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2605-2607)aCa>aTa		PR domain containing 10							157.0	147.0	150.0					11																	129784846		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784846G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2594C>T	11.37:g.129784846G>A	ENSP00000354118:p.Thr865Ile					PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I	p.T869I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2837	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	869			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2606C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014448	0.35511	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10477	2.88;2.89;2.89;2.88;2.94;2.87;2.97	5.52	5.52	0.82312	.	0.294052	0.39407	N	0.001366	T	0.07638	0.0192	N	0.14661	0.345	0.21897	N	0.999487	B;B;B;B;B;B;B	0.31680	0.002;0.335;0.012;0.007;0.003;0.005;0.012	B;B;B;B;B;B;B	0.28991	0.009;0.097;0.02;0.009;0.02;0.013;0.02	T	0.29274	-1.0017	10	0.66056	D	0.02	-6.3421	13.6983	0.62593	0.0736:0.0:0.9264:0.0	.	779;839;865;869;783;779;783	B7ZL72;E9PLV1;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	I	869;779;865;783;839;783;582	ENSP00000351686:T869I;ENSP00000302669:T779I;ENSP00000354118:T865I;ENSP00000398431:T783I;ENSP00000431262:T839I;ENSP00000432237:T783I;ENSP00000435940:T582I	ENSP00000302669:T779I	T	-	2	0	PRDM10	129290056	0.985000	0.35326	0.038000	0.18304	0.840000	0.47671	6.829000	0.75314	2.603000	0.88011	0.655000	0.94253	ACA		0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		42	71	0	0	0	1	0	42	71				
PRKD2	25865	broad.mit.edu	37	19	47219549	47219549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:47219549C>T	ENST00000291281.4	-	1	304	c.79G>A	c.(79-81)Gag>Aag	p.E27K	PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K|PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000433867.1_Missense_Mutation_p.E27K			Q9BZL6	KPCD2_HUMAN	protein kinase D2	27					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACTGCAGCTCTAGGCCGCCG	0.741																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(79-81)Gag>Aag		protein kinase D2							12.0	17.0	15.0					19																	47219549		2138	4213	6351	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219549C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.79G>A	19.37:g.47219549C>T	ENSP00000291281:p.Glu27Lys					PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K	p.E27K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	556	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	27					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.79G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.918971	0.33908	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64618	-0.11;-0.11	4.98	3.9	0.45041	.	0.683360	0.12998	N	0.421876	T	0.41880	0.1178	N	0.08118	0	0.27666	N	0.946926	B;B	0.16166	0.011;0.016	B;B	0.16722	0.014;0.016	T	0.15407	-1.0438	10	0.25106	T	0.35	-15.6361	13.2631	0.60117	0.0:0.8402:0.1598:0.0	.	27;27	E7ER94;Q9BZL6	.;KPCD2_HUMAN	K	27	ENSP00000291281:E27K;ENSP00000393978:E27K	ENSP00000291281:E27K	E	-	1	0	PRKD2	51911389	0.081000	0.21417	0.816000	0.32577	0.287000	0.27160	2.024000	0.41049	2.588000	0.87417	0.486000	0.48141	GAG		0.741	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	30	0	0	0	1	0	4	30				
ADAM7	8756	broad.mit.edu	37	8	24324409	24324409	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:24324409C>A	ENST00000175238.6	+	6	570	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGAGGGTGCCGTATGGTGC	0.393																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(487-489)Ccg>Acg		ADAM metallopeptidase domain 7							110.0	115.0	113.0					8																	24324409		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324409C>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.487C>A	8.37:g.24324409C>A	ENSP00000175238:p.Pro163Thr					RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T	p.P163T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	570	+		Prostate(55;0.0181)	163					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.487C>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603563	0.14002	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.30981	2.29;1.52;1.51	5.08	1.01	0.19927	.	0.850327	0.09989	N	0.729939	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	P;B	0.38922	0.651;0.004	B;B	0.32677	0.15;0.002	T	0.17992	-1.0351	10	0.15952	T	0.53	.	6.2319	0.20740	0.477:0.4358:0.0:0.0872	.	163;163	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	T	163	ENSP00000393073:P163T;ENSP00000175238:P163T;ENSP00000370166:P163T	ENSP00000175238:P163T	P	+	1	0	ADAM7	24380299	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.064000	0.14437	0.065000	0.16485	0.655000	0.94253	CCG		0.393	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		4	113	1	0	1	1	1	4	113				
SAMD9	54809	broad.mit.edu	37	7	92734114	92734114	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:92734114C>T	ENST00000379958.2	-	3	1566	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	433						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCCTTCAGGAAA	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1297-1299)Gaa>Aaa		sterile alpha motif domain containing 9							43.0	44.0	43.0					7																	92734114		2202	4300	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92734114C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1297G>A	7.37:g.92734114C>T	ENSP00000369292:p.Glu433Lys						p.E433K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1566	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		433					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1297G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590245	0.66105	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13420	2.59;2.59	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000012	T	0.35158	0.0922	M	0.72118	2.19	0.36322	D	0.858321	D	0.89917	1.0	D	0.69654	0.965	T	0.47711	-0.9096	10	0.66056	D	0.02	-14.6179	15.2828	0.73801	0.0:1.0:0.0:0.0	.	433	Q5K651	SAMD9_HUMAN	K	433	ENSP00000369292:E433K;ENSP00000414529:E433K	ENSP00000369292:E433K	E	-	1	0	SAMD9	92572050	0.970000	0.33590	1.000000	0.80357	0.976000	0.68499	2.303000	0.43646	2.246000	0.74042	0.603000	0.83216	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		17	17	0	0	0	1	0	17	17				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	78	0	0	0	1	0	3	78				
COL1A2	1278	broad.mit.edu	37	7	94041967	94041967	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:94041967T>C	ENST00000297268.6	+	25	1947	c.1476T>C	c.(1474-1476)atT>atC	p.I492I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	492					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAACATTGGATTCCCTG	0.498										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1474-1476)atT>atC		collagen, type I, alpha 2	Collagenase(DB00048)						54.0	53.0	53.0					7																	94041967		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94041967T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1476T>C	7.37:g.94041967T>C		HNSCC(75;0.22)					p.I492I	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		25	1947	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		492					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.1476T>C	CCDS34682.1																																																																																				0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	27	0	0	0	1	0	5	27				
SGOL1	151648	broad.mit.edu	37	3	20215787	20215787	+	Silent	SNP	T	T	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:20215787T>A	ENST00000263753.4	-	6	1375	c.1236A>T	c.(1234-1236)acA>acT	p.T412T	SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412997.1_Silent_p.T412T|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000383774.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	412					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTTTTTCATCTGTGTATTTCA	0.403																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1234-1236)acA>acT		shugoshin-like 1 (S. pombe)							111.0	118.0	116.0					3																	20215787		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215787T>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1236A>T	3.37:g.20215787T>A						SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron	p.T412T	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1587	-			412					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.1236A>T	CCDS33716.1																																																																																				0.403	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		21	100	0	0	0	1	0	21	100				
ARID1A	8289	broad.mit.edu	37	1	27101119	27101119	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:27101119C>T	ENST00000324856.7	+	18	4772	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1467					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTGCACCCCCTGGCACCA	0.612			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4399-4401)ccC>ccT		AT rich interactive domain 1A (SWI-like)							64.0	67.0	66.0					1																	27101119		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101119C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4401C>T	1.37:g.27101119C>T						ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	p.P1467P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4772	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1467					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4401C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.160	0.397681	0.11696	.	.	ENSG00000117713	ENST00000430799	T	0.03496	3.91	5.54	4.62	0.57501	.	0.251555	0.45126	D	0.000394	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00728	-1.1591	7	0.87932	D	0	-9.8683	9.907	0.41381	0.0:0.845:0.0:0.155	.	.	.	.	S	364	ENSP00000390317:P364S	ENSP00000390317:P364S	P	+	1	0	ARID1A	26973706	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.599000	0.24089	1.554000	0.49487	0.650000	0.86243	CCC		0.612	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		9	79	0	0	0	1	0	9	79				
FAM214A	56204	broad.mit.edu	37	15	52901729	52901729	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:52901729T>C	ENST00000261844.7	-	6	1534	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	461																	AGAATAAAAGTCATTAGAAAT	0.413																																						ENST00000261844.7																			0											c.(1381-1383)gAc>gGc		family with sequence similarity 214, member A							89.0	83.0	85.0					15																	52901729		1824	4076	5900	SO:0001583	missense	56204							g.chr15:52901729T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1382A>G	15.37:g.52901729T>C	ENSP00000261844:p.Asp461Gly					FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G	p.D461G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1534	-			461					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1382A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.127817	0.00031	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.29655	1.57;1.56	5.63	2.51	0.30379	.	0.830039	0.11758	N	0.532394	T	0.09642	0.0237	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35101	-0.9802	10	0.08837	T	0.75	.	6.8462	0.23990	0.0:0.6199:0.1379:0.2422	.	468;461	F5H8G0;Q32MH5	.;K1370_HUMAN	G	461;461;460;468	ENSP00000261844:D461G;ENSP00000443598:D468G	ENSP00000261844:D461G	D	-	2	0	KIAA1370	50689021	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.325000	0.19628	0.804000	0.34136	-0.177000	0.13119	GAC		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		9	68	0	0	0	1	0	9	68				
RNF133	168433	broad.mit.edu	37	7	122338418	122338418	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:122338418G>C	ENST00000340112.2	-	1	792	c.555C>G	c.(553-555)atC>atG	p.I185M	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	185					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GATTCATCCAGATGATGTGCT	0.373																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(553-555)atC>atG		ring finger protein 133							128.0	113.0	118.0					7																	122338418		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338418G>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.555C>G	7.37:g.122338418G>C	ENSP00000344489:p.Ile185Met					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	p.I185M	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	792	-			185					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.555C>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183732	0.57800	.	.	ENSG00000188050	ENST00000340112	T	0.14144	2.53	5.62	4.73	0.59995	.	0.173328	0.38663	U	0.001610	T	0.23054	0.0557	L	0.51422	1.61	0.80722	D	1	D	0.54601	0.967	P	0.58454	0.839	T	0.01409	-1.1362	10	0.34782	T	0.22	.	8.3709	0.32415	0.083:0.0:0.7622:0.1547	.	185	Q8WVZ7	RN133_HUMAN	M	185	ENSP00000344489:I185M	ENSP00000344489:I185M	I	-	3	3	RNF133	122125654	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.548000	0.45794	1.344000	0.45657	0.561000	0.74099	ATC		0.373	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		27	122	0	0	0	1	0	27	122				
WWC3	55841	broad.mit.edu	37	X	10107547	10107547	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10107547G>A	ENST00000380861.4	+	22	3570	c.3179G>A	c.(3178-3180)aGc>aAc	p.S1060N	WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1060					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGGGCAGAGCCACAAAGAG	0.582																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(3178-3180)aGc>aAc		WWC family member 3							104.0	89.0	94.0					X																	10107547		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10107547G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3179G>A	X.37:g.10107547G>A	ENSP00000370242:p.Ser1060Asn					WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			22	3570	+			1060					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.3179G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911399	0.17833	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.44881	0.91;0.91	4.64	-0.536	0.11876	.	0.182515	0.64402	N	0.000019	T	0.23410	0.0566	N	0.24115	0.695	0.34310	D	0.68532	B	0.11235	0.004	B	0.17722	0.019	T	0.20472	-1.0274	9	.	.	.	-19.1257	8.5729	0.33581	0.6697:0.0:0.3303:0.0	.	1060	Q9ULE0	WWC3_HUMAN	N	1060;1060;555	ENSP00000370242:S1060N;ENSP00000399584:S1060N	.	S	+	2	0	WWC3	10067547	1.000000	0.71417	0.677000	0.29947	0.227000	0.25037	1.699000	0.37804	-0.287000	0.09064	-0.340000	0.08031	AGC		0.582	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		16	73	0	0	0	1	0	16	73				
ARHGAP21	57584	broad.mit.edu	37	10	24890933	24890933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:24890933G>A	ENST00000396432.2	-	13	3307	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	940	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACAAGGGGTCGGAAATGAAGC	0.478																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2821-2823)Cga>Tga		Rho GTPase activating protein 21							75.0	71.0	72.0					10																	24890933		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24890933G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2821C>T	10.37:g.24890933G>A	ENSP00000379709:p.Arg941*					ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*	p.R941*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			13	3307	-			940			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.2821C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	44	10.712849	0.99455	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.23	3.21	0.36854	.	0.121282	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7345	0.62809	0.0:0.0:0.7039:0.2961	.	.	.	.	X	941;728;931;941;776	.	ENSP00000365604:R728X	R	-	1	2	ARHGAP21	24930939	1.000000	0.71417	0.925000	0.36789	0.822000	0.46500	3.176000	0.50863	1.302000	0.44855	0.462000	0.41574	CGA		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		39	29	0	0	0	1	0	39	29				
MSRA	4482	broad.mit.edu	37	8	9912035	9912035	+	Silent	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:9912035G>C	ENST00000317173.4	+	1	258	c.9G>C	c.(7-9)tcG>tcC	p.S3S	MSRA_ENST00000441698.2_Silent_p.S3S|MSRA_ENST00000518255.1_Silent_p.S3S|RP11-1E4.1_ENST00000562143.1_RNA	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	3					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCATGCTCTCGGCCACCCGGA	0.726																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000317173.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(7-9)tcG>tcC		methionine sulfoxide reductase A	L-Methionine(DB00134)						23.0	24.0	24.0					8																	9912035		2202	4300	6502	SO:0001819	synonymous_variant	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:9912035G>C	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.9G>C	8.37:g.9912035G>C						MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S	p.S3S	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN			1	258	+		Myeloproliferative disorder(644;0.178)	3					E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	ENST00000317173.4	37	c.9G>C	CCDS5975.1																																																																																				0.726	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		3	38	0	0	0	1	0	3	38				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	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		5	93	0	0	0	1	0	5	93				
ANK1	286	broad.mit.edu	37	8	41575698	41575698	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:41575698C>T	ENST00000347528.4	-	11	1215	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000396942.1_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTTGCAGGCGATGTGTAAG	0.592																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1132-1134)Gcc>Acc		ankyrin 1, erythrocytic							81.0	72.0	75.0					8																	41575698		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41575698C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1132G>A	8.37:g.41575698C>T	ENSP00000339620:p.Ala378Thr					ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T	p.A378T			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		11	1215	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	378			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1132G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.891017	0.97074	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.82433	2.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.70630	-0.4819	10	0.87932	D	0	.	19.3648	0.94458	0.0:1.0:0.0:0.0	.	411;378;378;378;378	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	378;378;378;378;378;378;411;378	ENSP00000339620:A378T;ENSP00000289734:A378T;ENSP00000369082:A378T;ENSP00000380149:A378T;ENSP00000380147:A378T;ENSP00000309131:A378T;ENSP00000265709:A411T	ENSP00000265709:A411T	A	-	1	0	ANK1	41694855	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.797000	0.85911	2.583000	0.87209	0.591000	0.81541	GCC		0.592	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	63	0	0	0	1	0	4	63				
HPSE2	60495	broad.mit.edu	37	10	100374723	100374723	+	Missense_Mutation	SNP	G	G	A	rs371339829		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:100374723G>A	ENST00000370552.3	-	9	1317	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	420					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AATGAGTGCCGTATCACGACA	0.398																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1258-1260)Cgg>Tgg		heparanase 2		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	195.0	167.0	177.0		1084,922,1258,1258	5.9	1.0	10		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	362/535,308/481,420/549,420/593	100374723	1,13005	2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100374723G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1258C>T	10.37:g.100374723G>A	ENSP00000359583:p.Arg420Trp					HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W	p.R420W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1317	-			420					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1258C>T	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911451	0.92178	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.989;0.997;0.993	T	0.66885	-0.5810	10	0.66056	D	0.02	-10.2568	19.3531	0.94398	0.0:0.0:1.0:0.0	.	308;420;362;420	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	W	420;362;420;308	ENSP00000359583:R420W;ENSP00000359580:R362W;ENSP00000359577:R420W;ENSP00000384384:R308W	ENSP00000359577:R420W	R	-	1	2	HPSE2	100364713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.764000	0.74960	2.941000	0.99782	0.655000	0.94253	CGG		0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		13	78	0	0	0	1	0	13	78				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		3	37	0	0	0	1	0	3	37				
LDOC1	23641	broad.mit.edu	37	X	140271196	140271196	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140271196T>C	ENST00000370526.2	-	1	114	c.11A>G	c.(10-12)gAg>gGg	p.E4G	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	4					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGCACCAACTCATCCACCAT	0.662																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(10-12)gAg>gGg		leucine zipper, down-regulated in cancer 1							26.0	21.0	23.0					X																	140271196		2198	4292	6490	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271196T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.11A>G	X.37:g.140271196T>C	ENSP00000359557:p.Glu4Gly					LDOC1_ENST00000460721.1_5'UTR	p.E4G	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	114	-	Acute lymphoblastic leukemia(192;7.65e-05)		4					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.11A>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.794045	0.50102	.	.	ENSG00000182195	ENST00000370526	T	0.21191	2.02	3.46	3.46	0.39613	.	0.169863	0.28042	N	0.016825	T	0.12305	0.0299	N	0.22421	0.69	0.24342	N	0.994955	B	0.26445	0.149	B	0.21360	0.034	T	0.14364	-1.0475	10	0.41790	T	0.15	-4.6758	7.546	0.27768	0.0:0.0:0.0:1.0	.	4	O95751	LDOC1_HUMAN	G	4	ENSP00000359557:E4G	ENSP00000359557:E4G	E	-	2	0	LDOC1	140098862	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	1.943000	0.40253	1.594000	0.50039	0.237000	0.17872	GAG		0.662	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		5	18	0	0	0	1	0	5	18				
ZNF681	148213	broad.mit.edu	37	19	23927680	23927680	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:23927680T>C	ENST00000402377.3	-	4	813	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ZNF681_ENST00000395385.3_Silent_p.K155K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	224				K -> R (in Ref. 1; BAG53769). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGTACGATTTCTCTCCAA	0.328																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(670-672)aaA>aaG		zinc finger protein 681							49.0	49.0	49.0					19																	23927680		2203	4299	6502	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927680T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.672A>G	19.37:g.23927680T>C						ZNF681_ENST00000395385.3_Silent_p.K155K	p.K224K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	813	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	224	K -> R (in Ref. 1; BAG53769).				B3KVF7	Silent	SNP	ENST00000402377.3	37	c.672A>G	CCDS12414.2																																																																																				0.328	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		9	15	0	0	0	1	0	9	15				
PLCL2	23228	broad.mit.edu	37	3	17056281	17056281	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:17056281C>T	ENST00000418129.2	+	3	2983	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C|PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	966	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTGTCTCCCCGCTTTCTGGG	0.537																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2518-2520)Cgc>Tgc		phospholipase C-like 2							157.0	156.0	157.0					3																	17056281		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056281C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2518C>T	3.37:g.17056281C>T	ENSP00000409637:p.Arg840Cys					PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C	p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			3	2983	+			966			C2.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2518C>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875490	0.91664	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.20200	2.15;2.09;2.15	5.16	5.16	0.70880	.	0.111038	0.64402	D	0.000005	T	0.46092	0.1375	.	.	.	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	T	0.48811	-0.9002	9	0.87932	D	0	.	19.0078	0.92859	0.0:1.0:0.0:0.0	.	966	Q9UPR0	PLCL2_HUMAN	C	840;967;840;840	ENSP00000409637:R840C;ENSP00000379979:R840C;ENSP00000412836:R840C	ENSP00000285094:R967C	R	+	1	0	PLCL2	17031285	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	5.935000	0.70145	2.551000	0.86045	0.655000	0.94253	CGC		0.537	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			26	140	0	0	0	1	0	26	140				
STYK1	55359	broad.mit.edu	37	12	10786670	10786670	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:10786670T>C	ENST00000075503.3	-	4	626	c.106A>G	c.(106-108)Atc>Gtc	p.I36V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGAGGAAGATAGTAACCAAC	0.453										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(106-108)Atc>Gtc		serine/threonine/tyrosine kinase 1							212.0	203.0	206.0					12																	10786670		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786670T>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.106A>G	12.37:g.10786670T>C	ENSP00000075503:p.Ile36Val	HNSCC(73;0.22)					p.I36V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			4	626	-			36					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.106A>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.999176	0.00435	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345;ENST00000541561	T;T;T	0.77098	-1.07;1.05;1.05	5.11	-3.63	0.04529	.	2.748860	0.00766	N	0.001171	T	0.57388	0.2050	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58504	-0.7625	10	0.02654	T	1	7.4644	10.6597	0.45696	0.0:0.7824:0.1028:0.1148	.	36	Q6J9G0	STYK1_HUMAN	V	36	ENSP00000075503:I36V;ENSP00000446241:I36V;ENSP00000445391:I36V	ENSP00000075503:I36V	I	-	1	0	STYK1	10677937	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.962000	0.03841	-0.990000	0.03481	0.459000	0.35465	ATC		0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		83	123	0	0	0	1	0	83	123				
ADCY4	196883	broad.mit.edu	37	14	24793576	24793576	+	Silent	SNP	C	C	T	rs141339113		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1843-1845)acG>acA		adenylate cyclase 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	76.0	72.0	73.0		1845,1845,1845	0.3	1.0	14	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	615/1078,615/1078,615/1078	24793576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793576C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1845G>A	14.37:g.24793576C>T						ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T	p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	16	1958	-			615					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1845G>A	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	63	0	0	0	1	0	11	63				
BCAT1	586	broad.mit.edu	37	12	24995135	24995135	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:24995135G>A	ENST00000261192.7	-	7	1224	c.698C>T	c.(697-699)gCc>gTc	p.A233V	BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	233					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TTCACATTGGGCAAAAAGAGA	0.433																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(697-699)gCc>gTc		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						70.0	67.0	68.0					12																	24995135		1925	4144	6069	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995135G>A		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.698C>T	12.37:g.24995135G>A	ENSP00000261192:p.Ala233Val					BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V	p.A233V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1224	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		233					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.698C>T	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274134	0.10403	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.28776	0.89	0.49213	D	0.999767	B;B;B;B;B	0.24258	0.033;0.04;0.012;0.1;0.011	B;B;B;B;B	0.27500	0.08;0.016;0.047;0.027;0.013	T	0.05937	-1.0855	10	0.23891	T	0.37	-5.5476	12.0472	0.53487	0.0788:0.0:0.9212:0.0	.	196;245;172;233;232	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	V	233;232;172;245;196	ENSP00000261192:A233V;ENSP00000440817:A232V;ENSP00000339805:A172V;ENSP00000443459:A245V;ENSP00000440827:A196V	ENSP00000261192:A233V	A	-	2	0	BCAT1	24886402	1.000000	0.71417	0.945000	0.38365	0.069000	0.16628	3.718000	0.54919	2.400000	0.81607	0.563000	0.77884	GCC		0.433	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		3	39	0	0	0	1	0	3	39				
SERPINB7	8710	broad.mit.edu	37	18	61468117	61468117	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:61468117C>T	ENST00000398019.2	+	7	940	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V|SERPINB7_ENST00000546027.1_Silent_p.V205V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	205					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGGCAGTCGCCATGATGC	0.368																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(613-615)gtC>gtT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							156.0	140.0	146.0					18																	61468117		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468117C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.615C>T	18.37:g.61468117C>T						SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V	p.V205V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			7	940	+		Esophageal squamous(42;0.129)	205					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.615C>T	CCDS11988.1																																																																																				0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		14	78	0	0	0	1	0	14	78				
FHL5	9457	broad.mit.edu	37	6	97051578	97051578	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:97051578T>C	ENST00000326771.2	+	3	469	c.89T>C	c.(88-90)gTt>gCt	p.V30A	FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	30					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCATACTGTGTTACATGTTAT	0.353																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(88-90)gTt>gCt		four and a half LIM domains 5							178.0	154.0	162.0					6																	97051578		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051578T>C	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.89T>C	6.37:g.97051578T>C	ENSP00000326022:p.Val30Ala					FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	469	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	30					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.89T>C	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	T	8.545	0.874135	0.17395	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87571	-2.27;-2.27;-2.27	5.65	4.47	0.54385	Zinc finger, LIM-type (1);	0.374606	0.19499	N	0.112770	T	0.72985	0.3529	L	0.48642	1.525	0.09310	N	1	B	0.31730	0.337	B	0.26094	0.066	T	0.70525	-0.4848	10	0.72032	D	0.01	.	11.865	0.52488	0.0:0.0699:0.0:0.9301	.	30	Q5TD97	FHL5_HUMAN	A	30	ENSP00000442357:V30A;ENSP00000326022:V30A;ENSP00000396390:V30A	ENSP00000326022:V30A	V	+	2	0	FHL5	97158299	0.027000	0.19231	0.212000	0.23672	0.010000	0.07245	2.247000	0.43151	2.140000	0.66376	0.482000	0.46254	GTT		0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		3	73	0	0	0	1	0	3	73				
CCDC40	55036	broad.mit.edu	37	17	78055796	78055796	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:78055796A>G	ENST00000397545.4	+	12	1955	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	643					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGACCTCCAACAAGACCACC	0.612																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1927-1929)aAc>aGc		coiled-coil domain containing 40							45.0	48.0	47.0					17																	78055796		2157	4262	6419	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055796A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1928A>G	17.37:g.78055796A>G	ENSP00000380679:p.Asn643Ser					CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	1955	+	all_neural(118;0.167)		643					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1928A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384167	0.25031	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.48201	0.82;0.82	4.86	1.16	0.20824	.	.	.	.	.	T	0.29976	0.0750	L	0.28115	0.83	0.33462	D	0.585104	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.34204	-0.9838	9	0.15066	T	0.55	-48.1881	9.5505	0.39306	0.6263:0.0:0.3737:0.0	.	643;426	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	S	643	ENSP00000364011:N643S;ENSP00000380679:N643S	ENSP00000364011:N643S	N	+	2	0	CCDC40	75670391	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.237000	0.32695	0.222000	0.20900	-0.254000	0.11334	AAC		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	35	0	0	0	1	0	5	35				
TOX4	9878	broad.mit.edu	37	14	21964706	21964706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:21964706A>G	ENST00000405508.1	+	10	2084	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	TOX4_ENST00000262709.3_Missense_Mutation_p.D603G|TOX4_ENST00000448790.2_Missense_Mutation_p.D580G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	603						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCTTAGGGATGTATTCTTG	0.393																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1807-1809)gAt>gGt		TOX high mobility group box family member 4							162.0	148.0	153.0					14																	21964706		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21964706A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1808A>G	14.37:g.21964706A>G	ENSP00000385102:p.Asp603Gly					TOX4_ENST00000448790.2_Missense_Mutation_p.D580G|TOX4_ENST00000262709.3_Missense_Mutation_p.D603G	p.D603G			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	10	2084	+	all_cancers(95;0.000465)		603					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1808A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707344	0.68615	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15952	2.38;2.38;2.38	5.01	5.01	0.66863	.	0.175509	0.47093	D	0.000253	T	0.34716	0.0907	L	0.54323	1.7	0.58432	D	0.999997	D;D	0.57571	0.98;0.98	D;D	0.68192	0.956;0.956	T	0.02933	-1.1092	10	0.54805	T	0.06	.	12.6299	0.56651	1.0:0.0:0.0:0.0	.	580;603	B4DPY8;O94842	.;TOX4_HUMAN	G	603;603;580;531	ENSP00000385102:D603G;ENSP00000262709:D603G;ENSP00000393080:D580G	ENSP00000262709:D603G	D	+	2	0	TOX4	21034546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.514000	0.67043	2.234000	0.73211	0.528000	0.53228	GAT		0.393	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		6	77	0	0	0	1	0	6	77				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	41	0	0	0	1	0	21	41				
SDR9C7	121214	broad.mit.edu	37	12	57323245	57323245	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:57323245C>T	ENST00000293502.1	-	3	796	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	218					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTTCGCATGCGTGACTCCAG	0.557																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(652-654)cGc>cAc		short chain dehydrogenase/reductase family 9C, member 7							121.0	106.0	111.0					12																	57323245		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323245C>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.653G>A	12.37:g.57323245C>T	ENSP00000293502:p.Arg218His						p.R218H	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			3	796	-			218					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.653G>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108353	0.37242	.	.	ENSG00000170426	ENST00000293502	D	0.89939	-2.59	5.45	1.58	0.23477	NAD(P)-binding domain (1);	0.386896	0.23277	N	0.049944	D	0.82697	0.5093	L	0.45228	1.405	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.71866	-0.4463	10	0.45353	T	0.12	.	10.0305	0.42099	0.0:0.6533:0.0:0.3467	.	218	Q8NEX9	DR9C7_HUMAN	H	218	ENSP00000293502:R218H	ENSP00000293502:R218H	R	-	2	0	SDR9C7	55609512	0.000000	0.05858	0.028000	0.17463	0.188000	0.23474	-1.629000	0.02029	0.391000	0.25143	0.650000	0.86243	CGC		0.557	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		25	63	0	0	0	1	0	25	63				
RGS3	5998	broad.mit.edu	37	9	116276827	116276827	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:116276827G>A	ENST00000374140.2	+	16	1776	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R|RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGGGCCACGGGAACTACCA	0.572																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1567-1569)Ggg>Agg		regulator of G-protein signaling 3							129.0	99.0	109.0					9																	116276827		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116276827G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1567G>A	9.37:g.116276827G>A	ENSP00000363255:p.Gly523Arg					RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R	p.G523R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			16	1776	+			523					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1567G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096041	0.76870	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.68181	0.59;0.59;0.99;0.1;-0.31	5.08	4.17	0.49024	.	0.121240	0.56097	D	0.000028	T	0.66376	0.2783	L	0.27053	0.805	0.80722	D	1	P;D;D;D;D;D	0.76494	0.784;0.988;0.991;0.992;0.99;0.999	B;P;P;P;P;P	0.59761	0.122;0.742;0.691;0.663;0.8;0.863	T	0.69285	-0.5185	10	0.87932	D	0	.	10.3782	0.44094	0.0929:0.0:0.9071:0.0	.	242;149;242;413;411;523	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	R	523;523;411;242;242;149	ENSP00000363255:G523R;ENSP00000259406:G523R;ENSP00000312844:G411R;ENSP00000340284:G242R;ENSP00000378141:G242R	ENSP00000312844:G411R	G	+	1	0	RGS3	115316648	0.995000	0.38212	0.254000	0.24359	0.977000	0.68977	4.245000	0.58734	1.226000	0.43582	0.561000	0.74099	GGG		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		9	63	0	0	0	1	0	9	63				
PPP1R3A	5506	broad.mit.edu	37	7	113558563	113558563	+	Silent	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:113558563T>C	ENST00000284601.3	-	1	557	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	163	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCAGTCATCTAAAGACATTC	0.358																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(487-489)ttA>ttG		protein phosphatase 1, regulatory subunit 3A							81.0	79.0	80.0					7																	113558563		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558563T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.489A>G	7.37:g.113558563T>C							p.L163L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	557	-			163			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.489A>G	CCDS5759.1																																																																																				0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	38	0	0	0	1	0	11	38				
EIF4B	1975	broad.mit.edu	37	12	53412741	53412741	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:53412741C>T	ENST00000262056.9	+	3	637	c.311C>T	c.(310-312)cCc>cTc	p.P104L	EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	104	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAACCTACCCTATGATGTT	0.423																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(310-312)cCc>cTc		eukaryotic translation initiation factor 4B							42.0	39.0	40.0					12																	53412741		1798	4063	5861	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53412741C>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.311C>T	12.37:g.53412741C>T	ENSP00000262056:p.Pro104Leu					RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L	p.P104L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			3	637	+			104			RRM.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.311C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723379	0.89298	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	4.67	4.67	0.58626	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.84878	0.0829	10	0.87932	D	0	.	17.0175	0.86423	0.0:1.0:0.0:0.0	.	104;104;104	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	L	104;58;104;104;104;104;104	ENSP00000262056:P104L;ENSP00000447192:P58L;ENSP00000388806:P104L;ENSP00000412530:P104L;ENSP00000449746:P104L;ENSP00000450324:P104L	ENSP00000262056:P104L	P	+	2	0	EIF4B	51699008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.521000	0.84997	0.591000	0.81541	CCC		0.423	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		8	48	0	0	0	1	0	8	48				
TSHZ1	10194	broad.mit.edu	37	18	72999831	72999831	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:72999831C>T	ENST00000580243.1	+	2	2817	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	TSHZ1_ENST00000322038.5_Silent_p.S778S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	823					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGTGTCCAGCGTGGCTGATT	0.572																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2332-2334)agC>agT		teashirt zinc finger homeobox 1							61.0	61.0	61.0					18																	72999831		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999831C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2469C>T	18.37:g.72999831C>T						TSHZ1_ENST00000580243.1_Silent_p.S823S	p.S778S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2918	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	823					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2334C>T																																																																																					0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		4	80	0	0	0	1	0	4	80				
KCNT1	57582	broad.mit.edu	37	9	138667250	138667250	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:138667250C>T	ENST00000263604.3	+	20	2281	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W	KCNT1_ENST00000298480.5_Missense_Mutation_p.R780W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	761					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R780R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCTGCCTGCGGCTGGACAA	0.642																																						ENST00000298480.5																			1	Substitution - coding silent(1)	p.R780R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2338-2340)Cgg>Tgg		potassium channel, subfamily T, member 1							67.0	57.0	60.0					9																	138667250		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138667250C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2281C>T	9.37:g.138667250C>T	ENSP00000263604:p.Arg761Trp					KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W	p.R780W			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	20	2412	+		Myeloproliferative disorder(178;0.0821)	780					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2338C>T		.	.	.	.	.	.	.	.	.	.	C	17.73	3.461916	0.63513	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	3.61	1.32	0.21799	.	0.000000	0.64402	U	0.000001	D	0.84964	0.5589	M	0.86178	2.8	0.53005	D	0.999963	D;D;D;D	0.89917	1.0;0.995;1.0;0.999	D;P;D;P	0.66497	0.932;0.677;0.944;0.841	D	0.86840	0.2016	10	0.87932	D	0	-33.6652	13.232	0.59949	0.3841:0.6159:0.0:0.0	.	747;780;735;761	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	W	735;780;780;739;747;761;759;761	ENSP00000417851:R735W;ENSP00000298480:R780W;ENSP00000360822:R780W;ENSP00000263604:R761W	ENSP00000263604:R761W	R	+	1	2	KCNT1	137807071	0.998000	0.40836	0.999000	0.59377	0.771000	0.43674	1.517000	0.35867	0.471000	0.27319	0.298000	0.19748	CGG		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		6	64	0	0	0	1	0	6	64				
BCORL1	63035	broad.mit.edu	37	X	129190022	129190022	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:129190022T>C	ENST00000218147.7	+	13	5244	c.5047T>C	c.(5047-5049)Tcc>Ccc	p.S1683P	BCORL1_ENST00000540052.1_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1683					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCCCCAGGCTCCTCTGAGAC	0.617																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5047-5049)Tcc>Ccc		BCL6 corepressor-like 1							43.0	43.0	43.0					X																	129190022		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190022T>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5047T>C	X.37:g.129190022T>C	ENSP00000218147:p.Ser1683Pro					BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P	p.S1683P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5091	+			1683					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.5047T>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	t	15.79	2.938025	0.52972	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.42131	0.98;1.23;0.99;0.98;1.28	4.68	0.419	0.16438	.	0.536026	0.14130	N	0.339451	T	0.40522	0.1120	L	0.54323	1.7	0.09310	N	1	P;P	0.45827	0.867;0.729	P;B	0.47346	0.544;0.391	T	0.25572	-1.0128	10	0.62326	D	0.03	-7.5001	6.2957	0.21085	0.3057:0.0:0.4731:0.2212	.	1757;1683	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	P	1683;1757;1553;1683;1357	ENSP00000218147:S1683P;ENSP00000307541:S1757P;ENSP00000352253:S1553P;ENSP00000437775:S1683P;ENSP00000399483:S1357P	ENSP00000218147:S1683P	S	+	1	0	BCORL1	129017703	0.246000	0.23909	0.984000	0.44739	0.978000	0.69477	-0.029000	0.12329	0.146000	0.19002	0.414000	0.27820	TCC		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		8	95	0	0	0	1	0	8	95				
EPS8L1	54869	broad.mit.edu	37	19	55594964	55594964	+	Intron	SNP	G	G	A	rs377168114		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55594964G>A	ENST00000201647.6	+	14	1412				EPS8L1_ENST00000586329.1_Missense_Mutation_p.R460Q|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000245618.5_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCTGACCCGACTGTCTTAC	0.716																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000586329.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1378-1380)cGa>cAa		EPS8-like 1		G	,	2,4340		0,2,2169	7.0	8.0	8.0		,	-5.7	0.0	19		8	0,8482		0,0,4241	no	intron,intron	EPS8L1	NM_017729.3,NM_133180.2	,	0,2,6410	AA,AG,GG		0.0,0.0461,0.0156	,	,	55594964	2,12822	2171	4241	6412	SO:0001627	intron_variant	54869					cytoplasm		g.chr19:55594964G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1357-20G>A	19.37:g.55594964G>A						EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000201647.6_Intron	p.R460Q			Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1557	+			452					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1379G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.613790	0.00835	4.61E-4	0.0	ENSG00000131037	ENST00000310075;ENST00000539118	.	.	.	2.83	-5.65	0.02459	.	.	.	.	.	T	0.13543	0.0328	.	.	.	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.28933	-1.0028	7	0.13853	T	0.58	.	3.3109	0.07016	0.4929:0.0:0.1821:0.325	.	460;225	Q8TE68-3;Q8TE68-4	.;.	Q	460;132	.	ENSP00000312331:R460Q	R	+	2	0	EPS8L1	60286776	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.954000	0.03873	-0.922000	0.03789	-1.288000	0.01363	CGA		0.716	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		3	3	0	0	0	1	0	3	3				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		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.chr17:7578442T>C	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	p.Y163C	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)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	18	0	0	0	1	0	43	18				
NPTX2	4885	broad.mit.edu	37	7	98256572	98256572	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.D328D(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)gaC>gaT		neuronal pentraxin II							99.0	81.0	87.0					7																	98256572		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256572C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.984C>T	7.37:g.98256572C>T							p.D328D	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1149	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		328			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.984C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	54	0	0	0	1	0	4	54				
OR2A25	392138	broad.mit.edu	37	7	143771700	143771700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:143771700C>T	ENST00000408898.2	+	1	426	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACCCTCTCCGATATTCTAC	0.463																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(388-390)Cga>Tga		olfactory receptor, family 2, subfamily A, member 25							141.0	144.0	143.0					7																	143771700		2199	4300	6499	SO:0001587	stop_gained	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771700C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.388C>T	7.37:g.143771700C>T	ENSP00000386167:p.Arg130*						p.R130*	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	426	+	Melanoma(164;0.0783)		130					B2RNC9	Nonsense_Mutation	SNP	ENST00000408898.2	37	c.388C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527686	0.64860	.	.	ENSG00000221933	ENST00000408898	.	.	.	4.69	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.2207	7.4513	0.27240	0.175:0.7286:0.0:0.0963	.	.	.	.	X	130	.	ENSP00000386167:R130X	R	+	1	2	OR2A25	143402633	0.031000	0.19500	0.362000	0.25862	0.585000	0.36419	0.673000	0.25203	1.194000	0.43101	0.563000	0.77884	CGA		0.463	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			40	93	0	0	0	1	0	40	93				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	7	0	0	0	1	0	3	7				
MID1	4281	broad.mit.edu	37	X	10442675	10442675	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10442675C>G	ENST00000317552.4	-	6	1529	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	377	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAAGGTAATCCAGACATTCT	0.383																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1129-1131)Gat>Cat		midline 1 (Opitz/BBB syndrome)							117.0	110.0	112.0					X																	10442675		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10442675C>G	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1129G>C	X.37:g.10442675C>G	ENSP00000312678:p.Asp377His					MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H	p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			6	1529	-			377			COS.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1129G>C	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875033	0.72180	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.96	5.96	0.96718	Fibronectin, type III (1);COS domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.989	D;D;D	0.71870	0.958;0.975;0.958	T	0.65923	-0.6050	10	0.66056	D	0.02	.	19.3139	0.94204	0.0:1.0:0.0:0.0	.	377;377;327	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	H	377;377;377;377;377;377;377;327;377	ENSP00000414521:D377H;ENSP00000312678:D377H;ENSP00000370162:D377H;ENSP00000370156:D377H;ENSP00000370164:D377H;ENSP00000370157:D377H;ENSP00000370159:D377H;ENSP00000391154:D377H	ENSP00000312678:D377H	D	-	1	0	MID1	10402675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.308000	0.78929	2.513000	0.84729	0.600000	0.82982	GAT		0.383	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	50	0	0	0	1	0	29	50				
IPCEF1	26034	broad.mit.edu	37	6	154567848	154567848	+	Silent	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:154567848G>A	ENST00000265198.4	-	5	275	c.120C>T	c.(118-120)ggC>ggT	p.G40G	IPCEF1_ENST00000519344.1_Silent_p.G12G|OPRM1_ENST00000337049.4_Missense_Mutation_p.A396T|IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000422970.2_Silent_p.G41G	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	40					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AGTCAGCATGGCCCAGATCTT	0.433																																						ENST00000337049.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1186-1188)Gcc>Acc		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						153.0	134.0	140.0					6																	154567848		2203	4300	6503	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154567848G>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.120C>T	6.37:g.154567848G>A						IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000422970.2_Silent_p.G41G	p.A396T	NM_001008503.1	NP_001008503.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1236	+		Ovarian(120;0.196)	0					A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.1186G>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559503	0.45590	.	.	ENSG00000112038	ENST00000337049	T	0.69926	-0.44	5.51	-0.691	0.11305	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18147	-1.0346	8	0.59425	D	0.04	-12.9292	1.7359	0.02941	0.109:0.2554:0.2479:0.3877	.	396	P35372-5	.	T	396	ENSP00000338381:A396T	ENSP00000338381:A396T	A	+	1	0	OPRM1	154609540	0.647000	0.27304	0.972000	0.41901	0.982000	0.71751	-0.272000	0.08560	-0.370000	0.08016	-0.410000	0.06199	GCC		0.433	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		34	55	0	0	0	1	0	34	55				
CAPN6	827	broad.mit.edu	37	X	110497569	110497569	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:110497569C>T	ENST00000324068.1	-	3	395	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	76	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCCCCAGTCTCCCTTGGGTCA	0.468																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(226-228)ggG>ggA		calpain 6							135.0	111.0	119.0					X																	110497569		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110497569C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.228G>A	X.37:g.110497569C>T						CAPN6_ENST00000541758.1_5'UTR	p.G76G	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			3	395	-			76			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.228G>A	CCDS14555.1																																																																																				0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			17	88	0	0	0	1	0	17	88				
MUC3A	4584	broad.mit.edu	37	7	100552268	100552268	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:100552268T>C	ENST00000319509.7	+	1	1019	c.1019T>C	c.(1018-1020)gTt>gCt	p.V340A				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2005	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GATCCATGTGTTGAAATGGAT	0.478																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1018-1020)gTt>gCt		mucin 3A, cell surface associated							493.0	466.0	474.0					7																	100552268		876	1991	2867	SO:0001583	missense	4584							g.chr7:100552268T>C	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1019T>C	7.37:g.100552268T>C	ENSP00000324834:p.Val340Ala						p.V340A							1	1019	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.1019T>C		.	.	.	.	.	.	.	.	.	.	T	9.727	1.161248	0.21538	.	.	ENSG00000169894	ENST00000319509	T	0.06371	3.31	1.44	0.0312	0.14170	.	.	.	.	.	T	0.02418	0.0074	N	0.24115	0.695	0.31099	N	0.710612	P	0.36222	0.544	B	0.23150	0.044	T	0.38200	-0.9672	8	0.08179	T	0.78	-3.8542	2.2174	0.03963	0.0:0.2134:0.3233:0.4633	.	2005	Q02505	MUC3A_HUMAN	A	340	ENSP00000324834:V340A	ENSP00000324834:V340A	V	+	2	0	MUC3A	100390204	0.001000	0.12720	0.000000	0.03702	0.203000	0.24098	0.666000	0.25097	-0.004000	0.14419	0.172000	0.16884	GTT		0.478	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		87	296	0	0	0	1	0	87	296				
OR2T33	391195	broad.mit.edu	37	1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(913-915)aCg>aTg		olfactory receptor, family 2, subfamily T, member 33							158.0	158.0	158.0					1																	248436203		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436203G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.914C>T	1.37:g.248436203G>A	ENSP00000324687:p.Thr305Met						p.T305M	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	935	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		305					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.914C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.832	-0.744874	0.03065	.	.	ENSG00000177212	ENST00000318021	T	0.36878	1.23	1.31	0.0343	0.14183	.	1.312490	0.06382	N	0.715485	T	0.18087	0.0434	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.28139	0.086	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.206	0.15291	0.0:0.0:0.311:0.689	.	305	Q8NG76	O2T33_HUMAN	M	305	ENSP00000324687:T305M	ENSP00000324687:T305M	T	-	2	0	OR2T33	246502826	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.332000	0.07904	-0.000000	0.14550	0.175000	0.17021	ACG		0.423	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		75	102	0	0	0	1	0	75	102				
OSBPL6	114880	broad.mit.edu	37	2	179238675	179238675	+	Missense_Mutation	SNP	G	G	A	rs149806664		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:179238675G>A	ENST00000190611.4	+	15	1830	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAGAGCCGCCTCTCCATG	0.483													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18230	0.0		0.0	False		,,,				2504	0.0					ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1453-1455)cGc>cAc		oxysterol binding protein-like 6		-	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	115.0	102.0	107.0		1529,1361,1346,1454,1466	6.0	1.0	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	510/960,454/904,449/899,485/935,489/939	179238675	1,13005	2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179238675G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1454G>A	2.37:g.179238675G>A	ENSP00000190611:p.Arg485His					OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H	p.R485H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1830	+			485					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1454G>A	CCDS2277.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	29.6	5.020425	0.93462	0.0	1.16E-4	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14640	2.64;2.63;2.49;2.64;2.63;2.63;2.63	6.01	6.01	0.97437	.	0.110517	0.64402	D	0.000009	T	0.36358	0.0964	L	0.53249	1.67	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.927;0.998;0.912;0.998;0.991;0.996	T	0.00284	-1.1848	10	0.45353	T	0.12	-7.0111	20.5258	0.99229	0.0:0.0:1.0:0.0	.	454;489;449;510;485;418	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	H	510;449;418;454;485;449;489	ENSP00000376293:R510H;ENSP00000352713:R449H;ENSP00000349591:R418H;ENSP00000387248:R454H;ENSP00000190611:R485H;ENSP00000386885:R449H;ENSP00000318723:R489H	ENSP00000190611:R485H	R	+	2	0	OSBPL6	178946921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.723000	0.74742	2.861000	0.98227	0.651000	0.88453	CGC		0.483	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		10	46	0	0	0	1	0	10	46				
MYCBP2	23077	broad.mit.edu	37	13	77663122	77663122	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr13:77663122G>A	ENST00000544440.2	-	61	10473	c.10456C>T	c.(10456-10458)Cgg>Tgg	p.R3486W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3524W|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000422231.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGATTAGCCGAGAAAGCTCA	0.363																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(10570-10572)Cgg>Tgg		MYC binding protein 2, E3 ubiquitin protein ligase							64.0	67.0	66.0					13																	77663122		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77663122G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10456C>T	13.37:g.77663122G>A	ENSP00000444596:p.Arg3486Trp					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W	p.R3524W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	61	10836	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3486						Missense_Mutation	SNP	ENST00000544440.2	37	c.10570C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193312	0.78902	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.52;1.52;1.52	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.51068	-0.8752	10	0.87932	D	0	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	3486	O75592	MYCB2_HUMAN	W	3486;3524;3486	ENSP00000349892:R3486W;ENSP00000384288:R3524W;ENSP00000444596:R3486W	ENSP00000349892:R3486W	R	-	1	2	MYCBP2	76561123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.567000	0.60850	2.586000	0.87340	0.563000	0.77884	CGG		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	67	0	0	0	1	0	8	67				
SPANXC	64663	broad.mit.edu	37	X	140335727	140335727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140335727G>A	ENST00000358993.2	-	2	255	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	73						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTGTTCTCTCGGGCGTGGTCA	0.443																																						ENST00000358993.2																			1	Substitution - coding silent(1)	p.R73R(1)	lung(1)	large_intestine(2)|lung(3)|pancreas(1)	6						c.(217-219)Cga>Tga		SPANX family, member C							151.0	123.0	133.0					X																	140335727		2135	4130	6265	SO:0001587	stop_gained	64663					cytoplasm|nucleus		g.chrX:140335727G>A	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.217C>T	X.37:g.140335727G>A	ENSP00000351884:p.Arg73*						p.R73*	NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN			2	255	-	Acute lymphoblastic leukemia(192;7.65e-05)		73					Q32WL9|Q5JX88	Nonsense_Mutation	SNP	ENST00000358993.2	37	c.217C>T	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	g	4.845	0.157168	0.09236	.	.	ENSG00000198573	ENST00000358993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34383	D	0.693339	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	73	.	ENSP00000351884:R73X	R	-	1	2	SPANXC	140163393	0.026000	0.19158	0.004000	0.12327	0.004000	0.04260	0.075000	0.14686	0.328000	0.23435	0.330000	0.21533	CGA		0.443	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		33	93	0	0	0	1	0	33	93				
LILRP2	79166	broad.mit.edu	37	19	55221934	55221934	+	RNA	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55221934C>A	ENST00000413439.1	+	0	1461									leukocyte immunoglobulin-like receptor pseudogene 2																		CCGGGCCCCACGGTGGCCTCA	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221934C>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221934C>A														0	1461	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		3	33	1	0	0.00909568	1	0.00919455	3	33				
CACNA1D	776	broad.mit.edu	37	3	53694205	53694205	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:53694205C>T	ENST00000350061.5	+	5	1180	c.669C>T	c.(667-669)ggC>ggT	p.G223G	CACNA1D_ENST00000288139.4_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(667-669)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						56.0	57.0	57.0					3																	53694205		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53694205C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.669C>T	3.37:g.53694205C>T						CACNA1D_ENST00000350061.5_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G	p.G223G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	5	787	+			223					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.669C>T	CCDS46848.1																																																																																				0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	31	0	0	0	1	0	17	31				
ZNF676	163223	broad.mit.edu	37	19	22379553	22379553	+	De_novo_Start_InFrame	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:22379553T>C	ENST00000397121.2	-	0	200					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAAACACATATATTTACCAAT	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67								zinc finger protein 676																																						163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22379553T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3			19.37:g.22379553T>C								NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			0	200	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)						A8MVX5	Translation_Start_Site	SNP	ENST00000397121.2	37		CCDS42539.1																																																																																				0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		9	76	0	0	0	1	0	9	76				
USP26	83844	broad.mit.edu	37	X	132160182	132160182	+	Silent	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:132160182A>G	ENST00000511190.1	-	6	2536	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	689	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCACTGTTTGAAAGTCAACTT	0.398																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2065-2067)ttT>ttC		ubiquitin specific peptidase 26							78.0	74.0	76.0					X																	132160182		2203	4300	6503	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160182A>G	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2067T>C	X.37:g.132160182A>G						USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F	p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2536	-	Acute lymphoblastic leukemia(192;0.000127)		689					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.2067T>C	CCDS14635.1																																																																																				0.398	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		26	72	0	0	0	1	0	26	72				
ROS1	6098	broad.mit.edu	37	6	117681518	117681518	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:117681518C>A	ENST00000368508.3	-	22	3630	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1144	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTTGTAGACTTTACAACGT	0.413			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3430-3432)aaG>aaT		c-ros oncogene 1 , receptor tyrosine kinase							80.0	75.0	77.0					6																	117681518		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681518C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3432G>T	6.37:g.117681518C>A	ENSP00000357494:p.Lys1144Asn					ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N|GOPC_ENST00000467125.1_Intron	p.K1144N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	22	3630	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1144			Fibronectin type-III 5.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3432G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	3.262	-0.150980	0.06585	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53206	0.63;0.63	5.14	0.173	0.15036	.	0.489617	0.20458	N	0.091949	T	0.09335	0.0230	L	0.27053	0.805	0.09310	N	0.999997	B	0.28128	0.201	B	0.24701	0.055	T	0.35051	-0.9804	10	0.11485	T	0.65	.	5.2161	0.15344	0.1309:0.5007:0.0:0.3684	.	1144	P08922	ROS1_HUMAN	N	1144;1139	ENSP00000357494:K1144N;ENSP00000357493:K1139N	ENSP00000357493:K1139N	K	-	3	2	ROS1	117788211	0.771000	0.28555	0.410000	0.26471	0.657000	0.38888	0.105000	0.15333	0.021000	0.15133	-0.140000	0.14226	AAG		0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	34	1	0	0.004672	1	0.00477468	3	34				
SETDB1	9869	broad.mit.edu	37	1	150933218	150933218	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:150933218G>A	ENST00000271640.5	+	16	2870	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	894	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAACAGCGGTACAGAGGA	0.502																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2680-2682)Ggt>Agt		SET domain, bifurcated 1							125.0	114.0	118.0					1																	150933218		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933218G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2680G>A	1.37:g.150933218G>A	ENSP00000271640:p.Gly894Ser					SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	p.G894S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2870	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		894			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2680G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447124	0.84101	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87029	-2.2;-2.2;1.26	5.58	5.58	0.84498	SET domain (3);	0.145638	0.64402	D	0.000006	D	0.83797	0.5332	N	0.11427	0.14	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.67725	0.906;0.921;0.953	D	0.84685	0.0719	10	0.32370	T	0.25	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	894;894;894	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	S	894	ENSP00000271640:G894S;ENSP00000357965:G894S;ENSP00000432348:G894S	ENSP00000271640:G894S	G	+	1	0	SETDB1	149199842	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.642000	0.74329	2.630000	0.89119	0.462000	0.41574	GGT		0.502	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			3	66	0	0	0	1	0	3	66				
TLR5	7100	broad.mit.edu	37	1	223285784	223285784	+	Missense_Mutation	SNP	G	G	A	rs146146738		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:223285784G>A	ENST00000540964.1	-	4	1051	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TLR5_ENST00000342210.6_Missense_Mutation_p.T197M			O60602	TLR5_HUMAN	toll-like receptor 5	197					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGGAGAGCGTTTTCCCTTG	0.428																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(589-591)aCg>aTg		toll-like receptor 5		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	62.0	63.0	63.0		590	-6.4	0.0	1	dbSNP_134	63	0,8600		0,0,4300	no	missense	TLR5	NM_003268.5	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	197/859	223285784	2,13004	2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285784G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.590C>T	1.37:g.223285784G>A	ENSP00000440643:p.Thr197Met					TLR5_ENST00000342210.6_Missense_Mutation_p.T197M	p.T197M			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1051	-			197					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.590C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	7.360	0.624697	0.14193	4.54E-4	0.0	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.83837	-1.77;-1.77;-1.77	4.89	-6.37	0.01963	.	1.688310	0.03349	N	0.195916	T	0.76478	0.3993	M	0.65975	2.015	0.09310	N	1	B	0.13594	0.008	B	0.15870	0.014	T	0.55755	-0.8091	10	0.33940	T	0.23	.	3.2653	0.06863	0.3218:0.0673:0.4034:0.2075	.	197	O60602	TLR5_HUMAN	M	197	ENSP00000440643:T197M;ENSP00000355846:T197M;ENSP00000340089:T197M	ENSP00000340089:T197M	T	-	2	0	TLR5	221352407	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.867000	0.04241	-1.541000	0.01727	-0.797000	0.03246	ACG		0.428	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		10	42	0	0	0	1	0	10	42				
MAP1B	4131	broad.mit.edu	37	5	71493378	71493378	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:71493378G>A	ENST00000296755.7	+	5	4494	c.4196G>A	c.(4195-4197)cGc>cAc	p.R1399H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1399					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCTTTACGCAGCCCGCCC	0.478																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(4195-4197)cGc>cAc		microtubule-associated protein 1B							49.0	51.0	50.0					5																	71493378		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493378G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4196G>A	5.37:g.71493378G>A	ENSP00000296755:p.Arg1399His						p.R1399H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4494	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1399					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4196G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962906	0.53507	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.09862	0.0242	N	0.24115	0.695	0.43930	D	0.996588	D;D	0.89917	1.0;1.0	P;P	0.62435	0.902;0.902	T	0.14643	-1.0465	10	0.66056	D	0.02	-11.3188	19.5099	0.95137	0.0:0.0:1.0:0.0	.	1273;1399	A2BDK6;P46821	.;MAP1B_HUMAN	H	1399	ENSP00000296755:R1399H	ENSP00000296755:R1399H	R	+	2	0	MAP1B	71529134	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	4.998000	0.63927	2.627000	0.88993	0.561000	0.74099	CGC		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	57	0	0	0	1	0	4	57				
ANXA2	302	broad.mit.edu	37	15	60644017	60644017	+	Splice_Site	SNP	T	T	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:60644017T>C	ENST00000396024.3	-	11	843	c.684A>G	c.(682-684)gtA>gtG	p.V228V	ANXA2_ENST00000421017.2_Splice_Site_p.V228V|ANXA2_ENST00000451270.2_Splice_Site_p.V228V|ANXA2_ENST00000332680.4_Splice_Site_p.V246V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	228					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	ACCTATCAAATACTGAGGAAA	0.388																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.e11-1		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						68.0	67.0	67.0					15																	60644017		2203	4300	6503	SO:0001630	splice_region_variant	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60644017T>C	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.683-1A>G	15.37:g.60644017T>C						ANXA2_ENST00000451270.2_Splice_Site_p.V228_splice|ANXA2_ENST00000421017.2_Splice_Site_p.V228_splice|ANXA2_ENST00000332680.4_Splice_Site_p.V246_splice	p.V228_splice	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			11	843	-			228					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Splice_Site	SNP	ENST00000396024.3	37	c.682_splice	CCDS10175.1																																																																																				0.388	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857	Silent	6	68	0	0	0	1	0	6	68				
SPAM1	6677	broad.mit.edu	37	7	123594538	123594538	+	Missense_Mutation	SNP	G	G	A	rs150235912		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:123594538G>A	ENST00000439500.1	+	4	1527	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000340011.5_Missense_Mutation_p.R305H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	305					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCATATACCCGCATAGTTTTT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17440	0.0		0.0	False		,,,				2504	0.0					ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(913-915)cGc>cAc		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	6,4400	9.9+/-24.2	0,6,2197	34.0	34.0	34.0		914,914,914,914,914	4.4	0.5	7	dbSNP_134	34	0,8596		0,0,4298	yes	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	29,29,29,29,29	0,6,6495	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	305/510,305/510,305/510,305/512,305/510	123594538	6,12996	2203	4298	6501	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594538G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.914G>A	7.37:g.123594538G>A	ENSP00000402123:p.Arg305His					SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H	p.R305H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1271	+			305					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.914G>A	CCDS5791.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.54	3.414600	0.62511	0.001362	0.0	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	6.17	4.38	0.52667	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.105283	0.64402	N	0.000004	T	0.62684	0.2448	H	0.95504	3.68	0.51012	D	0.999907	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74213	-0.3738	9	.	.	.	-25.9732	13.7218	0.62732	0.0931:0.0:0.9069:0.0	.	305;305	Q8TC30;P38567	.;HYALP_HUMAN	H	305	ENSP00000386028:R305H;ENSP00000417934:R305H;ENSP00000345849:R305H;ENSP00000402123:R305H;ENSP00000223028:R305H	.	R	+	2	0	SPAM1	123381774	1.000000	0.71417	0.534000	0.28014	0.060000	0.15804	4.735000	0.62051	0.945000	0.37605	0.655000	0.94253	CGC		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	41	0	0	0	1	0	4	41				
MSN	4478	broad.mit.edu	37	X	64947733	64947733	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:64947733A>G	ENST00000360270.5	+	3	326	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	52	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTACCAGGACACTAAAGGTTT	0.403			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(154-156)Act>Gct		moesin							190.0	161.0	171.0					X																	64947733		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64947733A>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.154A>G	X.37:g.64947733A>G	ENSP00000353408:p.Thr52Ala						p.T52A	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			3	326	+			52			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.154A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548260	0.45383	.	.	ENSG00000147065	ENST00000360270	T	0.75938	-0.98	5.69	4.49	0.54785	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.048350	0.85682	D	0.000000	T	0.56529	0.1991	N	0.17674	0.51	0.58432	D	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.44375	-0.9332	10	0.16896	T	0.51	.	10.1191	0.42609	0.8479:0.0:0.0:0.1521	.	52	P26038	MOES_HUMAN	A	52	ENSP00000353408:T52A	ENSP00000353408:T52A	T	+	1	0	MSN	64864458	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.209000	0.77916	0.741000	0.32674	0.441000	0.28932	ACT		0.403	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		22	25	0	0	0	1	0	22	25				
TRMT61B	55006	broad.mit.edu	37	2	29074043	29074043	+	Nonsense_Mutation	SNP	C	C	A	rs147013173	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:29074043C>A	ENST00000306108.5	-	5	1230	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	403					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCTAAAATTCCATTTTTCTGT	0.363													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16676	0.0		0.001	False		,,,				2504	0.0					ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(1207-1209)Gga>Tga		tRNA methyltransferase 61 homolog B (S. cerevisiae)		C	stop/GLY	1,4405		0,1,2202	97.0	91.0	93.0		1207	2.9	0.8	2	dbSNP_134	93	0,8600		0,0,4300	no	stop-gained	TRMT61B	NM_017910.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		403/478	29074043	1,13005	2203	4300	6503	SO:0001587	stop_gained	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29074043C>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1207G>T	2.37:g.29074043C>A	ENSP00000302801:p.Gly403*						p.G403*	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			5	1230	-			403					Q9H0Q9|Q9NWS7	Nonsense_Mutation	SNP	ENST00000306108.5	37	c.1207G>T	CCDS1768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.153442|4.153442	0.78114|0.78114	2.27E-4|2.27E-4	0.0|0.0	ENSG00000171103|ENSG00000171103	ENST00000306108|ENST00000419999	.|.	.|.	.|.	5.61|5.61	2.86|2.86	0.33363|0.33363	.|.	0.264214|.	0.28784|.	N|.	0.014153|.	.|T	.|0.39410	.|0.1077	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44757	.|-0.9307	.|3	0.48119|.	T|.	0.1|.	-16.8489|-16.8489	5.3291|5.3291	0.15922|0.15922	0.1401:0.5685:0.0:0.2914|0.1401:0.5685:0.0:0.2914	.|.	.|.	.|.	.|.	X|L	403|36	.|.	ENSP00000302801:G403X|.	G|W	-|-	1|2	0|0	TRMT61B|TRMT61B	28927547|28927547	0.980000|0.980000	0.34600|0.34600	0.847000|0.847000	0.33407|0.33407	0.831000|0.831000	0.47069|0.47069	0.280000|0.280000	0.18790|0.18790	0.334000|0.334000	0.23590|0.23590	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.363	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		17	32	1	0	4.75885e-15	1	5.08705e-15	17	32				
ALOX15	246	broad.mit.edu	37	17	4534928	4534928	+	Silent	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:4534928C>T	ENST00000570836.1	-	15	2052	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R|ALOX15_ENST00000293761.3_Silent_p.R652R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	652	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCACGCTGGGCCGCAGGTACT	0.552																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1954-1956)cgG>cgA		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						140.0	123.0	129.0					17																	4534928		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4534928C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1956G>A	17.37:g.4534928C>T						ALOX15_ENST00000293761.3_Silent_p.R652R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R	p.R652R			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	2052	-			652			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1956G>A	CCDS11049.1																																																																																				0.552	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			17	92	0	0	0	1	0	17	92				
DYNC1H1	1778	broad.mit.edu	37	14	102510228	102510228	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:102510228C>T	ENST00000360184.4	+	70	12694	c.12530C>T	c.(12529-12531)gCc>gTc	p.A4177V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4177	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACGAGCGTGCCCGCTTGTAC	0.507																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12529-12531)gCc>gTc		dynein, cytoplasmic 1, heavy chain 1							95.0	90.0	91.0					14																	102510228		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510228C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12530C>T	14.37:g.102510228C>T	ENSP00000348965:p.Ala4177Val					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	p.A4177V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			70	12694	+			4177			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12530C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809529	0.90707	.	.	ENSG00000197102	ENST00000360184	T	0.09163	3.01	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.75447	2.3	0.80722	D	1	P	0.41673	0.759	B	0.43990	0.438	T	0.00207	-1.1919	10	0.51188	T	0.08	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	4177	Q14204	DYHC1_HUMAN	V	4177	ENSP00000348965:A4177V	ENSP00000348965:A4177V	A	+	2	0	DYNC1H1	101579981	1.000000	0.71417	0.985000	0.45067	0.904000	0.53231	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GCC		0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	50	0	0	0	1	0	3	50				
DRG1	4733	broad.mit.edu	37	22	31796608	31796608	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:31796608G>T	ENST00000331457.4	+	2	206	c.45G>T	c.(43-45)atG>atT	p.M15I	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	15	Required for interaction with STK16.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCTTTTAGATGGCTCGGACTC	0.468																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(43-45)atG>atT		developmentally regulated GTP binding protein 1							74.0	67.0	69.0					22																	31796608		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31796608G>T	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.45G>T	22.37:g.31796608G>T	ENSP00000329715:p.Met15Ile					DRG1_ENST00000433341.1_3'UTR	p.M15I	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			2	206	+			15					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.45G>T	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751285	0.69533	.	.	ENSG00000185721	ENST00000331457	T	0.25579	1.79	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.59436	1.845	0.80722	D	1	B	0.22800	0.075	B	0.23852	0.049	T	0.04855	-1.0922	10	0.34782	T	0.22	.	17.6661	0.88203	0.0:0.0:1.0:0.0	.	15	Q9Y295	DRG1_HUMAN	I	15	ENSP00000329715:M15I	ENSP00000329715:M15I	M	+	3	0	DRG1	30126608	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.598000	0.90852	2.482000	0.83794	0.563000	0.77884	ATG		0.468	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		4	55	1	0	2.56e-06	1	2.64533e-06	4	55				
CYP4F24P	388514	broad.mit.edu	37	19	15871633	15871633	+	lincRNA	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:15871633C>T	ENST00000595525.1	+	0	449																											ACCTGGGTCCCGCAGAGAAGG	0.552																																						ENST00000595525.1																			0																																																			0							g.chr19:15871633C>T																													19.37:g.15871633C>T						CYP4F24P_ENST00000587443.2_RNA								0	449	+									RNA	SNP	ENST00000595525.1	37																																																																																						0.552	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			6	90	0	0	0	1	0	6	90				
CENPE	1062	broad.mit.edu	37	4	104030019	104030019	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr4:104030019G>C	ENST00000265148.3	-	48	8041	c.7952C>G	c.(7951-7953)tCt>tGt	p.S2651C	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.S2614Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGATGGTAAAGACTTTGATCG	0.378																																						ENST00000265148.3																			1	Substitution - Missense(1)	p.S2614Y(1)	large_intestine(1)	NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7951-7953)tCt>tGt		centromere protein E, 312kDa							154.0	151.0	152.0					4																	104030019		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030019G>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7952C>G	4.37:g.104030019G>C	ENSP00000265148:p.Ser2651Cys					CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	p.S2651C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	8041	-			2651			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7952C>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974945	0.53720	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70399	-0.48;-0.47	5.19	5.19	0.71726	.	.	.	.	.	T	0.81856	0.4911	M	0.61703	1.905	0.31707	N	0.640029	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.83080	-0.0138	9	0.59425	D	0.04	.	14.2305	0.65890	0.0:0.0:1.0:0.0	.	2530;2651	Q02224-3;Q02224	.;CENPE_HUMAN	C	2651;2530	ENSP00000265148:S2651C;ENSP00000369365:S2530C	ENSP00000265148:S2651C	S	-	2	0	CENPE	104249468	1.000000	0.71417	0.990000	0.47175	0.368000	0.29767	3.330000	0.52068	2.418000	0.82041	0.655000	0.94253	TCT		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	74	0	0	0	1	0	9	74				
PARVB	29780	broad.mit.edu	37	22	44514963	44514963	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:44514963A>G	ENST00000338758.7	+	4	382	c.319A>G	c.(319-321)Att>Gtt	p.I107V	PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000406477.3_Missense_Mutation_p.I140V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	107	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGAGGATCATTGTGAAGCA	0.592																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(319-321)Att>Gtt		parvin, beta							204.0	171.0	182.0					22																	44514963		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44514963A>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.319A>G	22.37:g.44514963A>G	ENSP00000342492:p.Ile107Val					PARVB_ENST00000406477.3_Missense_Mutation_p.I140V|PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000402876.3_Missense_Mutation_p.I107V	p.I107V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			4	382	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	107			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.319A>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062173	0.36373	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.92	4.92	0.64577	Calponin homology domain (5);	0.094172	0.64402	D	0.000001	T	0.56202	0.1969	L	0.41415	1.275	0.80722	D	1	P;P;B;P	0.43701	0.793;0.688;0.444;0.815	P;P;P;B	0.51415	0.605;0.669;0.557;0.421	T	0.49952	-0.8884	10	0.11485	T	0.65	-4.9302	12.5015	0.55957	1.0:0.0:0.0:0.0	.	107;70;107;140	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	140;107;107;105;70	ENSP00000384515:I140V;ENSP00000342492:I107V;ENSP00000385331:I107V;ENSP00000393758:I105V;ENSP00000384353:I70V	ENSP00000342492:I107V	I	+	1	0	PARVB	42846296	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	8.506000	0.90518	1.836000	0.53414	0.533000	0.62120	ATT		0.592	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		19	30	0	0	0	1	0	19	30				
MYOF	26509	broad.mit.edu	37	10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T	rs375965848		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:95111508C>T	ENST00000359263.4	-	33	3576	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000371501.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3577-3579)Gat>Aat		myoferlin		C	ASN/ASP,ASN/ASP	0,3652		0,0,1826	116.0	112.0	113.0		3577,3538	5.8	1.0	10		113	1,8157		0,1,4078	no	missense,missense	MYOF	NM_013451.3,NM_133337.2	23,23	0,1,5904	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	1193/2062,1180/2049	95111508	1,11809	1826	4079	5905	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111508C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3577G>A	10.37:g.95111508C>T	ENSP00000352208:p.Asp1193Asn					MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N	p.D1193N			Q9NZM1	MYOF_HUMAN			33	3699	-			1193			C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3577G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834586	0.16820	0.0	1.23E-4	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.209235	0.47852	D	0.000215	T	0.48114	0.1482	N	0.17312	0.475	0.36861	D	0.888414	B;B	0.12630	0.004;0.006	B;B	0.10450	0.002;0.005	T	0.50065	-0.8871	10	0.26408	T	0.33	-23.4325	10.0912	0.42447	0.0:0.8468:0.0:0.1532	.	1180;1193	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	1180;1193;1193;1193	ENSP00000351094:D1180N;ENSP00000352208:D1193N;ENSP00000360556:D1193N;ENSP00000360557:D1193N	ENSP00000351094:D1180N	D	-	1	0	MYOF	95101498	0.993000	0.37304	0.996000	0.52242	0.963000	0.63663	1.183000	0.32041	2.734000	0.93682	0.650000	0.86243	GAT		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		10	41	0	0	0	1	0	10	41				
LRRC37BP1	147172	broad.mit.edu	37	17	28960294	28960294	+	RNA	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:28960294C>T	ENST00000417404.1	+	0	1155									leucine rich repeat containing 37B pseudogene 1																		AGCTTCTCAGCGAGCAGCAGG	0.433																																						ENST00000417404.1																			0																																																			0							g.chr17:28960294C>T	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960294C>T						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1155	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.433	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		21	28	0	0	0	1	0	21	28				
GOLGA2	2801	broad.mit.edu	37	9	131020288	131020288	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:131020288C>T	ENST00000421699.2	-	22	2410	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A788T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	800					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTGCAGGGCCCGGTGGGTC	0.677																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2398-2400)Gcc>Acc		golgin A2							22.0	26.0	25.0					9																	131020288		2169	4276	6445	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131020288C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2398G>A	9.37:g.131020288C>T	ENSP00000416097:p.Ala800Thr						p.A800T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			22	2410	-			800					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2398G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	23.4	4.407047	0.83230	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.36699	1.24	5.01	4.11	0.48088	.	0.152077	0.64402	N	0.000016	T	0.56702	0.2003	M	0.78801	2.425	0.46901	D	0.999242	D;P;D	0.56521	0.976;0.933;0.976	P;D;P	0.65323	0.698;0.934;0.698	T	0.56709	-0.7934	10	0.33141	T	0.24	.	13.0039	0.58692	0.0:0.922:0.0:0.078	.	800;418;84	Q08379;Q08379-2;Q5HYE0	GOGA2_HUMAN;.;.	T	800;84	ENSP00000416097:A800T	ENSP00000342692:A84T	A	-	1	0	GOLGA2	130060109	1.000000	0.71417	0.659000	0.29680	0.008000	0.06430	3.104000	0.50306	1.094000	0.41399	0.655000	0.94253	GCC		0.677	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		8	36	0	0	0	1	0	8	36				
SRXN1	140809	broad.mit.edu	37	20	629365	629365	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:629365A>C	ENST00000381962.3	-	2	591	c.407T>G	c.(406-408)tTg>tGg	p.L136W	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	136					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTACTGCAAGTCTGGTGT	0.612																																						ENST00000381962.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(406-408)tTg>tGg		sulfiredoxin 1							127.0	123.0	124.0					20																	629365		2203	4300	6503	SO:0001583	missense	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629365A>C	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.407T>G	20.37:g.629365A>C	ENSP00000371388:p.Leu136Trp					RP5-850E9.3_ENST00000488788.2_3'UTR	p.L136W	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN			2	591	-			136					B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	ENST00000381962.3	37	c.407T>G	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643884	0.87859	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.61	5.61	0.85477	.	0.000000	0.49305	U	0.000149	T	0.78130	0.4235	M	0.74647	2.275	0.48341	D	0.999638	D	0.89917	1.0	D	0.85130	0.997	T	0.80852	-0.1197	9	0.87932	D	0	-4.0642	13.1912	0.59711	1.0:0.0:0.0:0.0	.	136	Q9BYN0	SRXN1_HUMAN	W	136	.	ENSP00000371388:L136W	L	-	2	0	SRXN1	577365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.369000	0.90118	2.147000	0.66899	0.533000	0.62120	TTG		0.612	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		9	134	0	0	0	1	0	9	134				
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906821	+	IGR	DEL	CAA	CAA	-	rs147786269|rs397936635		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:28906819_28906821delCAA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaaa	0.493																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906819_28906821delCAA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906819_28906821delCAA						SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA								0	1100	-								Q86SU7	RNA	DEL	ENST00000373830.3	37		CCDS324.1																																																																																				0.493	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	5						3	5	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145103950	145103950	+	RNA	DEL	C	C	-	rs587667932	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:145103950delC	ENST00000453618.1	+	0	445							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GGCTAAGTAACTCTTTCGAAA	0.393														3	0.000599042	0.0	0.0014	5008	,	,		50971	0.0		0.002	False		,,,				2504	0.0					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							86.0	79.0	81.0					1																	145103950		1942	4145	6087			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103950delC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103950delC										O75396	SC22B_HUMAN			0	445	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.393	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	21						7	21	---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158576366	158576366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:158576366delT	ENST00000367104.3	-	3	240	c.109delA	c.(109-111)actfs	p.T37fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367102.2_Frame_Shift_Del_p.T37fs	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	37					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGTGATCCAGTAAACTTTATT	0.318																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(109-111)ctfs		serine active site containing 1							66.0	59.0	62.0					6																	158576366		2199	4298	6497	SO:0001589	frameshift_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158576366delT	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.109delA	6.37:g.158576366delT	ENSP00000356071:p.Thr37fs					SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs	p.T37fs			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	3	250	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	37					Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	c.109delA	CCDS5255.1																																																																																				0.318	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		2	4						2	4	---	---	---	---
