#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
CPS1	1373	broad.mit.edu	37	2	211454904	211454904	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTTGATCGCGGGAGGACCGG	0.483																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.A262A(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(784-786)gcG>gcA		carbamoyl-phosphate synthase 1, mitochondrial							222.0	231.0	228.0					2																	211454904		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454904G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.786G>A	2.37:g.211454904G>A						CPS1_ENST00000430249.2_Silent_p.A268A	p.A262A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	982	+			262			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.786G>A	CCDS2393.1																																																																																				0.483	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			100	215	0	0	0	1	0	100	215				
ERMAP	114625	broad.mit.edu	37	1	43308789	43308789	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:43308789C>T	ENST00000372517.2	+	12	1558	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372514.3_Silent_p.L438L|ERMAP_ENST00000328249.3_Silent_p.L348L|RP11-342M1.3_ENST00000444563.1_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	438			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGTCCCTCAAGGTGAACT	0.517																																						ENST00000328249.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(1042-1044)ctC>ctT		erythroblast membrane-associated protein (Scianna blood group)							98.0	97.0	98.0					1																	43308789		2203	4300	6503	SO:0001819	synonymous_variant	114625					integral to membrane|plasma membrane		g.chr1:43308789C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1314C>T	1.37:g.43308789C>T						ERMAP_ENST00000372517.2_Silent_p.L438L|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Silent_p.L438L	p.L348L			Q96PL5	ERMAP_HUMAN			9	2082	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	438		Missing (in Sc-3 allele).	B30.2/SPRY.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	ENST00000372517.2	37	c.1044C>T	CCDS475.1																																																																																				0.517	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		45	93	0	0	0	1	0	45	93				
ZNF516	9658	broad.mit.edu	37	18	74153250	74153250	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:74153250G>A	ENST00000443185.2	-	3	2078	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	587					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGCAGCCTCGTCGGCCAGGC	0.701																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1759-1761)gaC>gaT		zinc finger protein 516							9.0	12.0	11.0					18																	74153250		1983	4065	6048	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153250G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1761C>T	18.37:g.74153250G>A						ZNF516_ENST00000524431.2_5'UTR	p.D587D	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2078	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	587						Silent	SNP	ENST00000443185.2	37	c.1761C>T																																																																																					0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		14	19	0	0	0	1	0	14	19				
ZNF44	51710	broad.mit.edu	37	19	12361173	12361173	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:12361173G>A	ENST00000426973.1	-	2	43	c.44C>T	c.(43-45)aCc>aTc	p.T15I				P15621	ZNF44_HUMAN	zinc finger protein 44	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATCTTCAAAGGTCACTGAGTC	0.443																																						ENST00000426973.1																			0				ovary(1)	1						c.(43-45)aCc>aTc		zinc finger protein 44																																				SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12361173G>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000426973.1:c.44C>T	19.37:g.12361173G>A	ENSP00000395745:p.Thr15Ile						p.T15I			P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	2	43	-		Renal(1328;0.157)	53					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000426973.1	37	c.44C>T		.	.	.	.	.	.	.	.	.	.	G	14.02	2.411411	0.42817	.	.	ENSG00000197857	ENST00000426973	T	0.03065	4.06	0.96	0.96	0.19631	.	.	.	.	.	T	0.05181	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	T	0.23440	-1.0188	5	0.87932	D	0	.	4.2128	0.10519	0.0:0.0:0.6023:0.3977	.	.	.	.	I	15	ENSP00000395745:T15I	ENSP00000395745:T15I	T	-	2	0	ZNF44	12222173	0.918000	0.31147	0.476000	0.27291	0.455000	0.32408	0.981000	0.29526	0.837000	0.34925	0.485000	0.47835	ACC		0.443	ZNF44-201	KNOWN	basic	protein_coding	protein_coding		NM_016264		20	55	0	0	0	1	0	20	55				
ADAMTS3	9508	broad.mit.edu	37	4	73434495	73434495	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:73434495C>T	ENST00000286657.4	-	0	21				ADAMTS3_ENST00000505193.1_5'Flank	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCGAGTTCACTTTCCAACTA	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76								ADAM metallopeptidase with thrombospondin type 1 motif, 3							43.0	42.0	42.0					4																	73434495		2203	4300	6503			9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73434495C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.-16G>A	4.37:g.73434495C>T								NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		0	21	-								A1L3U9|Q9BXZ8	Translation_Start_Site	SNP	ENST00000286657.4	37		CCDS3553.1																																																																																				0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			16	36	0	0	0	1	0	16	36				
NOTCH2	4853	broad.mit.edu	37	1	120462965	120462965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:120462965C>T	ENST00000256646.2	-	30	5585	c.5366G>A	c.(5365-5367)tGg>tAg	p.W1789*	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1789					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTGTGTCCATGGCCGTCG	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5365-5367)tGg>tAg		notch 2							182.0	139.0	153.0					1																	120462965		2203	4300	6503	SO:0001587	stop_gained	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120462965C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5366G>A	1.37:g.120462965C>T	ENSP00000256646:p.Trp1789*						p.W1789*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	5585	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1789					Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.5366G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	47	13.157799	0.99724	.	.	ENSG00000134250	ENST00000256646	.	.	.	5.82	5.82	0.92795	.	0.000000	0.35646	U	0.003079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0775	0.93168	0.0:1.0:0.0:0.0	.	.	.	.	X	1789	.	ENSP00000256646:W1789X	W	-	2	0	NOTCH2	120264488	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.755000	0.85180	2.761000	0.94854	0.655000	0.94253	TGG		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		32	91	0	0	0	1	0	32	91				
TET2	54790	broad.mit.edu	37	4	106158210	106158210	+	Silent	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158210C>A	ENST00000540549.1	+	3	3971	c.3111C>A	c.(3109-3111)gcC>gcA	p.A1037A	TET2_ENST00000513237.1_Silent_p.A1058A|TET2_ENST00000394764.1_Silent_p.A1037A|TET2_ENST00000413648.2_Silent_p.A1037A|TET2_ENST00000545826.1_Silent_p.A1037A|TET2_ENST00000380013.4_Silent_p.A1037A|TET2_ENST00000305737.2_Silent_p.A1037A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1037					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTTTCACGCCAAGTCGTTAT	0.428			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3172-3174)gcC>gcA		tet methylcytosine dioxygenase 2							86.0	78.0	81.0					4																	106158210		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158210C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3111C>A	4.37:g.106158210C>A						TET2_ENST00000380013.4_Silent_p.A1037A|TET2_ENST00000545826.1_Silent_p.A1037A|TET2_ENST00000305737.2_Silent_p.A1037A|TET2_ENST00000540549.1_Silent_p.A1037A|TET2_ENST00000413648.2_Silent_p.A1037A|TET2_ENST00000394764.1_Silent_p.A1037A	p.A1058A			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3971	+		Myeloproliferative disorder(5;0.0393)	1037					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.3174C>A	CCDS47120.1																																																																																				0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		31	66	1	0	2.85442e-18	1	3.03143e-18	31	66				
GRIA1	2890	broad.mit.edu	37	5	153056713	153056713	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:153056713C>A	ENST00000285900.5	+	7	1364	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	GRIA1_ENST00000521843.2_Missense_Mutation_p.L272M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L351M|GRIA1_ENST00000448073.4_Missense_Mutation_p.L351M|GRIA1_ENST00000340592.5_Missense_Mutation_p.L341M|GRIA1_ENST00000518142.1_Missense_Mutation_p.L261M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	341					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCAGAGAGCTCTGCAGCAGGT	0.507																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1021-1023)Ctg>Atg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						43.0	42.0	42.0					5																	153056713		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056713C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1021C>A	5.37:g.153056713C>A	ENSP00000285900:p.Leu341Met					GRIA1_ENST00000521843.2_Missense_Mutation_p.L272M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L351M|GRIA1_ENST00000518142.1_Missense_Mutation_p.L261M|GRIA1_ENST00000448073.4_Missense_Mutation_p.L351M|GRIA1_ENST00000340592.5_Missense_Mutation_p.L341M	p.L341M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1364	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	341					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1021C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571661	0.45798	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.56	4.69	0.59074	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.60130	0.2245	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;1.0;0.881;1.0;0.999;0.788	D;D;P;D;D;P	0.77557	0.99;0.99;0.751;0.99;0.984;0.464	T	0.59209	-0.7497	10	0.33940	T	0.23	.	9.725	0.40326	0.0:0.8427:0.0:0.1573	.	351;351;261;351;341;341	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	M	341;341;261;295;341;272;272;351;351	ENSP00000285900:L341M;ENSP00000427920:L261M;ENSP00000339343:L341M;ENSP00000427864:L272M;ENSP00000442108:L272M;ENSP00000428994:L351M;ENSP00000415569:L351M	ENSP00000285900:L341M	L	+	1	2	GRIA1	153036906	0.530000	0.26330	1.000000	0.80357	0.635000	0.38103	1.132000	0.31418	1.325000	0.45301	0.655000	0.94253	CTG		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			9	29	1	0	1.08611e-07	1	1.12725e-07	9	29				
SNAPC4	6621	broad.mit.edu	37	9	139282281	139282281	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:139282281C>T	ENST00000298532.2	-	11	1511	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGAGTCTCTCCCTTCCATAT	0.557																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1141-1143)ggG>ggA		small nuclear RNA activating complex, polypeptide 4, 190kDa							110.0	99.0	103.0					9																	139282281		2203	4300	6503	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139282281C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1143G>A	9.37:g.139282281C>T							p.G381G	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	11	1511	-		Myeloproliferative disorder(178;0.0511)	381			Myb-like 2.			Silent	SNP	ENST00000298532.2	37	c.1143G>A	CCDS6998.1																																																																																				0.557	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		41	79	0	0	0	1	0	41	79				
SLK	9748	broad.mit.edu	37	10	105770646	105770646	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:105770646G>A	ENST00000369755.3	+	13	3402	c.2857G>A	c.(2857-2859)Gca>Aca	p.A953T	SLK_ENST00000335753.4_Intron|SLK_ENST00000474260.1_Intron	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	953					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAGGAGCTTGCACAAAGCCA	0.443																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2857-2859)Gca>Aca		STE20-like kinase							73.0	69.0	70.0					10																	105770646		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105770646G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2857G>A	10.37:g.105770646G>A	ENSP00000358770:p.Ala953Thr					SLK_ENST00000335753.4_Intron|SLK_ENST00000474260.1_Intron	p.A953T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	13	3402	+		Colorectal(252;0.178)	953					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.2857G>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853409	0.32791	.	.	ENSG00000065613	ENST00000369755	T	0.30182	1.54	5.63	5.63	0.86233	Protein kinase-like domain (1);	0.488757	0.18958	N	0.126476	T	0.20618	0.0496	N	0.14661	0.345	0.42549	D	0.993101	B	0.21071	0.051	B	0.17433	0.018	T	0.04708	-1.0932	10	0.41790	T	0.15	.	13.9113	0.63869	0.0727:0.0:0.9273:0.0	.	953	Q9H2G2	SLK_HUMAN	T	953	ENSP00000358770:A953T	ENSP00000358770:A953T	A	+	1	0	SLK	105760636	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.217000	0.65252	2.642000	0.89623	0.467000	0.42956	GCA		0.443	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		14	10	0	0	0	1	0	14	10				
TP53	7157	broad.mit.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7577529A>T	ENST00000269305.4	-	7	941	c.752T>A	c.(751-753)aTc>aAc	p.I251N	TP53_ENST00000455263.2_Missense_Mutation_p.I251N|TP53_ENST00000420246.2_Missense_Mutation_p.I251N|TP53_ENST00000413465.2_Missense_Mutation_p.I251N|TP53_ENST00000359597.4_Missense_Mutation_p.I251N|TP53_ENST00000445888.2_Missense_Mutation_p.I251N|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	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)	GATGGTGAGGATGGGCCTCCG	0.582		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"""		50	Substitution - Missense(25)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)	large_intestine(6)|stomach(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|oesophagus(4)|liver(4)|bone(4)|breast(4)|central_nervous_system(3)|prostate(3)|ovary(2)|thyroid(1)|soft_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(751-753)aTc>aAc	Other conserved DNA damage response genes	tumor protein p53							153.0	111.0	125.0					17																	7577529		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.chr17:7577529A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.752T>A	17.37:g.7577529A>T	ENSP00000269305:p.Ile251Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.I251N|TP53_ENST00000445888.2_Missense_Mutation_p.I251N|TP53_ENST00000413465.2_Missense_Mutation_p.I251N|TP53_ENST00000455263.2_Missense_Mutation_p.I251N|TP53_ENST00000269305.4_Missense_Mutation_p.I251N	p.I251N	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)	7	884	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	251		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.752T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920387	0.73098	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.991;1.0;0.997;0.989;1.0	D	0.96623	0.9461	10	0.87932	D	0	-1.7057	12.3101	0.54924	1.0:0.0:0.0:0.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	N	251;251;251;251;251;251;240;119	ENSP00000410739:I251N;ENSP00000352610:I251N;ENSP00000269305:I251N;ENSP00000398846:I251N;ENSP00000391127:I251N;ENSP00000391478:I251N;ENSP00000425104:I119N	ENSP00000269305:I251N	I	-	2	0	TP53	7518254	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	62	0	0	0	1	0	25	62				
ZNF597	146434	broad.mit.edu	37	16	3490818	3490818	+	Missense_Mutation	SNP	G	G	A	rs369748871		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:3490818G>A	ENST00000301744.4	-	3	384	c.149C>T	c.(148-150)gCg>gTg	p.A50V	NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000424546.2_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	50	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CATCAAAGCCGCATCCTCCAA	0.468																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(148-150)gCg>gTg		zinc finger protein 597		G	VAL/ALA	0,4394		0,0,2197	113.0	94.0	101.0		149	-1.2	0.0	16		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF597	NM_152457.1	64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	50/425	3490818	1,12993	2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3490818G>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.149C>T	16.37:g.3490818G>A	ENSP00000301744:p.Ala50Val					LA16c-306E5.2_ENST00000575785.1_RNA	p.A50V	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			3	384	-			50			KRAB.			Missense_Mutation	SNP	ENST00000301744.4	37	c.149C>T	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.665594	0.00105	0.0	1.16E-4	ENSG00000167981	ENST00000301744	T	0.01455	4.87	4.07	-1.25	0.09405	Krueppel-associated box (3);	0.855079	0.09759	N	0.759494	T	0.00637	0.0021	N	0.00621	-1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46190	-0.9209	10	0.46703	T	0.11	2.6413	1.8504	0.03168	0.5702:0.1528:0.104:0.1731	.	50	Q96LX8	ZN597_HUMAN	V	50	ENSP00000301744:A50V	ENSP00000301744:A50V	A	-	2	0	ZNF597	3430819	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.378000	0.20569	-0.388000	0.07797	-1.340000	0.01251	GCG		0.468	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		6	198	0	0	0	1	0	6	198				
PSPC1	55269	broad.mit.edu	37	13	20304417	20304417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:20304417G>A	ENST00000338910.4	-	6	1279	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	374					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTGCTGTCGCCTCAGTTCC	0.368																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1120-1122)Cga>Tga		paraspeckle component 1							244.0	245.0	245.0					13																	20304417		1882	4123	6005	SO:0001587	stop_gained	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20304417G>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1120C>T	13.37:g.20304417G>A	ENSP00000343966:p.Arg374*						p.R374*	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	6	1279	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	374					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Nonsense_Mutation	SNP	ENST00000338910.4	37	c.1120C>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	38	6.835480	0.97873	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	.	.	.	5.58	4.65	0.58169	.	0.072810	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9681	15.0345	0.71734	0.0:0.0:0.816:0.1839	.	.	.	.	X	374;314	.	ENSP00000343966:R374X	R	-	1	2	PSPC1	19202417	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.757000	0.47557	2.641000	0.89580	0.563000	0.77884	CGA		0.368	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			96	195	0	0	0	1	0	96	195				
FARP1	10160	broad.mit.edu	37	13	99098961	99098961	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:99098961G>A	ENST00000319562.6	+	26	3211	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	FARP1_ENST00000595437.1_Silent_p.S1013S|FARP1_ENST00000376586.2_Silent_p.S1013S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	982	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S982S(1)|p.S1013S(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTACTCGCTCACCATCC	0.552																																						ENST00000376586.2																			2	Substitution - coding silent(2)	p.S982S(1)|p.S1013S(1)	endometrium(2)	breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(3037-3039)tcG>tcA		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							183.0	138.0	154.0					13																	99098961		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99098961G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2946G>A	13.37:g.99098961G>A						FARP1_ENST00000319562.6_Silent_p.S982S|FARP1_ENST00000595437.1_Silent_p.S1013S	p.S1013S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		27	3375	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		982			PH 2.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.3039G>A	CCDS9487.1																																																																																				0.552	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		30	81	0	0	0	1	0	30	81				
TRIM51	84767	broad.mit.edu	37	11	55653117	55653117	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:55653117G>T	ENST00000449290.2	+	2	305	c.213G>T	c.(211-213)aaG>aaT	p.K71N	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	71						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTTGTTTGAAGAACATGGCTT	0.473																																						ENST00000449290.2																			0											c.(211-213)aaG>aaT		tripartite motif-containing 51							30.0	26.0	27.0					11																	55653117		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653117G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.213G>T	11.37:g.55653117G>T	ENSP00000395086:p.Lys71Asn						p.K71N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	305	+			71					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.213G>T		.	.	.	.	.	.	.	.	.	.	.	9.038	0.989077	0.18966	.	.	ENSG00000124900	ENST00000449290	D	0.84146	-1.81	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.75664	0.3880	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.57152	0.814	T	0.65080	-0.6255	9	0.66056	D	0.02	.	2.31	0.04184	0.2731:0.3361:0.3909:0.0	.	71	Q9BSJ1	SPRY5_HUMAN	N	71	ENSP00000395086:K71N	ENSP00000395086:K71N	K	+	3	2	SPRYD5	55409693	0.001000	0.12720	0.002000	0.10522	0.023000	0.10783	-0.759000	0.04761	-0.235000	0.09767	0.152000	0.16155	AAG		0.473	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		15	13	1	0	1.49906e-05	1	1.53262e-05	15	13				
TENM1	10178	broad.mit.edu	37	X	123514960	123514960	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:123514960A>G	ENST00000371130.3	-	31	7667	c.7604T>C	c.(7603-7605)gTa>gCa	p.V2535A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.V2542A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2535					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCAGCTGTTACTATGCCATC	0.438																																						ENST00000422452.2																			0											c.(7624-7626)gTa>gCa		teneurin transmembrane protein 1							72.0	70.0	71.0					X																	123514960		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514960A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7604T>C	X.37:g.123514960A>G	ENSP00000360171:p.Val2535Ala					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.V2535A	p.V2542A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7688	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7625T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026102	0.54683	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85955	-2.05;-2.02	5.83	5.83	0.93111	.	0.056902	0.64402	D	0.000001	D	0.86990	0.6066	L	0.58583	1.82	0.58432	D	0.999999	P;P;D	0.58620	0.893;0.893;0.983	B;B;P	0.53401	0.446;0.446;0.725	D	0.84484	0.0607	10	0.18276	T	0.48	.	15.1686	0.72850	1.0:0.0:0.0:0.0	.	2541;2542;2535	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2535;2542	ENSP00000360171:V2535A;ENSP00000403954:V2542A	ENSP00000360171:V2535A	V	-	2	0	ODZ1	123342641	1.000000	0.71417	0.977000	0.42913	0.927000	0.56198	9.339000	0.96797	1.965000	0.57142	0.486000	0.48141	GTA		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		56	114	0	0	0	1	0	56	114				
ADAM28	10863	broad.mit.edu	37	8	24188811	24188811	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:24188811G>A	ENST00000265769.4	+	12	1362	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G418R|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G165R|ADAM28_ENST00000540823.1_Missense_Mutation_p.G185R|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	418	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGGAAATGGGAGAGGACTG	0.373																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1252-1254)Gga>Aga		ADAM metallopeptidase domain 28							87.0	87.0	87.0					8																	24188811		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24188811G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1252G>A	8.37:g.24188811G>A	ENSP00000265769:p.Gly418Arg					RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.G185R|ADAM28_ENST00000397649.3_Missense_Mutation_p.G165R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G418R	p.G418R	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	12	1362	+		Prostate(55;0.0959)	418			Disintegrin.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1252G>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.225166|3.225166	0.58668|0.58668	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000521629|ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	.|T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56	5.57|5.57	4.69|4.69	0.59074|0.59074	.|Blood coagulation inhibitor, Disintegrin (4);	.|.	.|.	.|.	.|.	T|T	0.44052|0.44052	0.1275|0.1275	M|M	0.90870|0.90870	3.155|3.155	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|0.999;0.995;0.995;1.0	.|D;D;D;D	.|0.79784	.|0.993;0.956;0.956;0.988	T|T	0.54022|0.54022	-0.8355|-0.8355	5|9	.|0.87932	.|D	.|0	.|.	11.7052|11.7052	0.51593|0.51593	0.0877:0.0:0.9123:0.0|0.0877:0.0:0.9123:0.0	.|.	.|185;418;418;418	.|B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.|.;.;ADA28_HUMAN;.	E|R	50|418;165;185;418	.|ENSP00000265769:G418R;ENSP00000380770:G165R;ENSP00000443743:G185R;ENSP00000393699:G418R	.|ENSP00000265769:G418R	G|G	+|+	2|1	0|0	ADAM28|ADAM28	24244756|24244756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.343000|0.343000	0.28985|0.28985	4.755000|4.755000	0.62198|0.62198	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.373	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		11	46	0	0	0	1	0	11	46				
PARL	55486	broad.mit.edu	37	3	183585677	183585677	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:183585677T>C	ENST00000317096.4	-	2	357	c.297A>G	c.(295-297)atA>atG	p.I99M	PARL_ENST00000435888.1_Missense_Mutation_p.I99M|PARL_ENST00000311101.5_Missense_Mutation_p.I99M	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	99					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGGTTTTATGAGACTCC	0.418																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(295-297)atA>atG		presenilin associated, rhomboid-like							97.0	100.0	99.0					3																	183585677		2203	4300	6503	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183585677T>C	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.297A>G	3.37:g.183585677T>C	ENSP00000325421:p.Ile99Met					PARL_ENST00000435888.1_Missense_Mutation_p.I99M|PARL_ENST00000311101.5_Missense_Mutation_p.I99M	p.I99M	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	357	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		99					Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.297A>G	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.652|8.652	0.898451|0.898451	0.17686|0.17686	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888|ENST00000449306	T;T;T|.	0.74737|.	-0.87;-0.87;-0.87|.	5.27|5.27	-3.72|-3.72	0.04411|0.04411	.|.	0.482306|.	0.22282|.	N|.	0.062120|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.42245|0.42245	1.32|1.32	0.26725|0.26725	N|N	0.970692|0.970692	B;B|.	0.28419|.	0.211;0.046|.	B;B|.	0.30316|.	0.114;0.03|.	T|T	0.44050|0.44050	-0.9353|-0.9353	10|5	0.49607|.	T|.	0.09|.	-1.6021|-1.6021	10.0153|10.0153	0.42011|0.42011	0.0:0.6913:0.1351:0.1737|0.0:0.6913:0.1351:0.1737	.|.	99;99|.	Q9H300-2;Q9H300|.	.;PARL_HUMAN|.	M|E	99|60	ENSP00000325421:I99M;ENSP00000310676:I99M;ENSP00000402137:I99M|.	ENSP00000310676:I99M|.	I|K	-|-	3|1	3|0	PARL|PARL	185068371|185068371	0.793000|0.793000	0.28825|0.28825	0.119000|0.119000	0.21687|0.21687	0.161000|0.161000	0.22273|0.22273	-0.264000|-0.264000	0.08658|0.08658	-0.447000|-0.447000	0.07138|0.07138	-0.250000|-0.250000	0.11733|0.11733	ATA|AAA		0.418	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		49	103	0	0	0	1	0	49	103				
MPP6	51678	broad.mit.edu	37	7	24720064	24720064	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:24720064G>A	ENST00000222644.5	+	11	1621	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	MPP6_ENST00000409761.1_Silent_p.A345A|MPP6_ENST00000396475.2_Silent_p.A457A			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATTTATTGCGGCTCCGGAGC	0.418																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1369-1371)gcG>gcA		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							164.0	152.0	156.0					7																	24720064		2203	4300	6503	SO:0001819	synonymous_variant	51678				protein complex assembly		protein binding	g.chr7:24720064G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1371G>A	7.37:g.24720064G>A						MPP6_ENST00000409761.1_Silent_p.A345A|MPP6_ENST00000222644.4_Silent_p.A457A	p.A457A	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			12	1670	+			457			Guanylate kinase-like.		B2RAF0	Silent	SNP	ENST00000222644.5	37	c.1371G>A	CCDS5388.1																																																																																				0.418	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			60	109	0	0	0	1	0	60	109				
C2orf78	388960	broad.mit.edu	37	2	74043580	74043580	+	Missense_Mutation	SNP	C	C	T	rs368168109		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:74043580C>T	ENST00000409561.1	+	3	2351	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	744										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTAGCCTCACGTAGGCCTGC	0.537																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2230-2232)Cgt>Tgt		chromosome 2 open reading frame 78		C	CYS/ARG	1,4197		0,1,2098	178.0	184.0	182.0		2230	1.4	0.0	2		182	1,8427		0,1,4213	no	missense	C2orf78	NM_001080474.1	180	0,2,6311	TT,TC,CC		0.0119,0.0238,0.0158	possibly-damaging	744/923	74043580	2,12624	2099	4214	6313	SO:0001583	missense	388960							g.chr2:74043580C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2230C>T	2.37:g.74043580C>T	ENSP00000387124:p.Arg744Cys						p.R744C	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	2351	+			744						Missense_Mutation	SNP	ENST00000409561.1	37	c.2230C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983893	0.53827	2.38E-4	1.19E-4	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.48201	0.82	5.23	1.43	0.22495	.	1.200020	0.06213	N	0.685309	T	0.48926	0.1527	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.56700	0.804	T	0.38564	-0.9655	10	0.54805	T	0.06	0.1303	6.7718	0.23598	0.0:0.6224:0.0:0.3776	.	744	A6NCI8	CB078_HUMAN	C	744;714	ENSP00000387124:R744C	ENSP00000340692:R714C	R	+	1	0	C2orf78	73897088	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.115000	0.15540	0.323000	0.23307	-0.251000	0.11542	CGT		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		77	188	0	0	0	1	0	77	188				
MST1L	11223	broad.mit.edu	37	1	17083816	17083816	+	RNA	SNP	G	G	A	rs11260920	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:17083816G>A	ENST00000455405.2	-	0	772							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GTGCATACTCGGTTGGGGATT	0.572																																						ENST00000455405.2																			0																																																			11223							g.chr1:17083816G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083816G>A														0	772	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	16.12	3.032156	0.54790	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.210084	0.23710	N	0.045334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4822	0.07606	1.0E-4:1.0E-4:0.5547:0.4451	rs11260920;rs11260920	.	.	.	X	661;687	.	ENSP00000439273:R661X	R	-	1	2	MST1P9	16956403	1.000000	0.71417	0.918000	0.36340	0.000000	0.00434	1.791000	0.38744	0.502000	0.28037	0.000000	0.15137	CGA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	25	0	0	0	1	0	5	25				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			5	62	0	0	0	1	0	5	62				
KEAP1	9817	broad.mit.edu	37	19	10602863	10602863	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:10602863C>T	ENST00000171111.5	-	3	1262	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V239M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	239	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TCGCAGCGCACGTTCAGGTCG	0.637																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(715-717)Gtg>Atg		kelch-like ECH-associated protein 1							70.0	59.0	63.0					19																	10602863		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602863C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.715G>A	19.37:g.10602863C>T	ENSP00000171111:p.Val239Met					KEAP1_ENST00000393623.2_Missense_Mutation_p.V239M|KEAP1_ENST00000588024.1_5'UTR	p.V239M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1262	-			239			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.715G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020711	0.93462	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.73897	-0.79;-0.79	5.84	5.84	0.93424	BTB/Kelch-associated (2);	0.256715	0.38663	N	0.001619	D	0.90748	0.7096	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93094	0.6502	10	0.87932	D	0	.	17.6518	0.88167	0.0:1.0:0.0:0.0	.	239	Q14145	KEAP1_HUMAN	M	239	ENSP00000171111:V239M;ENSP00000377245:V239M	ENSP00000171111:V239M	V	-	1	0	KEAP1	10463863	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.974000	0.70465	2.767000	0.95098	0.555000	0.69702	GTG		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		41	30	0	0	0	1	0	41	30				
ZNF45	7596	broad.mit.edu	37	19	44417673	44417673	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:44417673G>T	ENST00000269973.5	-	10	3005	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	ZNF45_ENST00000589703.1_Missense_Mutation_p.P639T|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	639					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CATTTGTATGGTTTTTCTCCG	0.478																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1915-1917)Cca>Aca		zinc finger protein 45							119.0	106.0	110.0					19																	44417673		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417673G>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1915C>A	19.37:g.44417673G>T	ENSP00000269973:p.Pro639Thr					ZNF45_ENST00000589703.1_Missense_Mutation_p.P639T|RP11-15A1.2_ENST00000586247.1_RNA	p.P639T	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	3005	-			639					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1915C>A	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559449	0.65538	.	.	ENSG00000124459	ENST00000269973	T	0.16897	2.31	3.59	2.54	0.30619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34338	N	0.004051	T	0.35885	0.0947	M	0.66560	2.04	0.37234	D	0.905836	D	0.89917	1.0	D	0.77004	0.989	T	0.36359	-0.9751	10	0.72032	D	0.01	-9.5122	10.2724	0.43491	0.1031:0.0:0.8969:0.0	.	639	Q02386	ZNF45_HUMAN	T	639	ENSP00000269973:P639T	ENSP00000269973:P639T	P	-	1	0	ZNF45	49109513	1.000000	0.71417	0.946000	0.38457	0.995000	0.86356	7.194000	0.77789	0.857000	0.35407	0.455000	0.32223	CCA		0.478	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		57	104	1	0	7.47603e-22	1	8.1287e-22	57	104				
FAT1	2195	broad.mit.edu	37	4	187542660	187542660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:187542660G>A	ENST00000441802.2	-	10	5289	c.5080C>T	c.(5080-5082)Caa>Taa	p.Q1694*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1694	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGATGATTGACTATGGGCT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5080-5082)Caa>Taa		FAT atypical cadherin 1							117.0	113.0	114.0					4																	187542660		1868	4112	5980	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542660G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5080C>T	4.37:g.187542660G>A	ENSP00000406229:p.Gln1694*	HNSCC(5;0.00058)					p.Q1694*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5289	-			1694			Cadherin 15.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5080C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.681925	0.99591	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.99	4.99	0.66335	.	0.061051	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	1694;1696	.	ENSP00000260147:Q1696X	Q	-	1	0	FAT1	187779654	1.000000	0.71417	0.985000	0.45067	0.715000	0.41141	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	CAA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		64	29	0	0	0	1	0	64	29				
PAK3	5063	broad.mit.edu	37	X	110406220	110406220	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:110406220A>T	ENST00000372010.1	+	10	1033	c.591A>T	c.(589-591)gaA>gaT	p.E197D	PAK3_ENST00000519681.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000372007.5_Missense_Mutation_p.E182D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)																												ENST00000519681.1																			2	Substitution - Missense(2)	p.E182D(1)|p.E218D(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(607-609)gaA>gaT		p21 protein (Cdc42/Rac)-activated kinase 3							156.0	136.0	143.0					X																	110406220		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406220A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.591A>T	X.37:g.110406220A>T	ENSP00000361080:p.Glu197Asp	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Missense_Mutation_p.E197D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000372007.4_Missense_Mutation_p.E182D	p.E203D			O75914	PAK3_HUMAN			10	1051	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.609A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807573	0.31961	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.71;-0.71;-0.69;-0.7;-0.7;-0.71;-0.71	5.95	3.63	0.41609	.	0.063753	0.64402	D	0.000011	T	0.40272	0.1110	N	0.05441	-0.05	0.36081	D	0.842782	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.40590	-0.9555	10	0.06365	T	0.9	.	4.7506	0.13059	0.7052:0.0:0.1397:0.155	.	203;218;197;182	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	182;182;197;203;182;218;218;203;197	ENSP00000410853:E182D;ENSP00000401982:E182D;ENSP00000361080:E197D;ENSP00000429113:E203D;ENSP00000361077:E182D;ENSP00000428921:E218D;ENSP00000353864:E218D;ENSP00000389172:E203D;ENSP00000262836:E197D	ENSP00000262836:E197D	E	+	3	2	PAK3	110292876	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.057000	0.30492	1.999000	0.58509	0.486000	0.48141	GAA		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		4	165	0	0	0	1	0	4	165				
NOD2	64127	broad.mit.edu	37	16	50746258	50746258	+	Silent	SNP	T	T	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50746258T>A	ENST00000300589.2	+	4	2541	c.2436T>A	c.(2434-2436)ccT>ccA	p.P812P	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	812					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCTGCTGCCTTGCCTTGGTG	0.612																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2434-2436)ccT>ccA		nucleotide-binding oligomerization domain containing 2							113.0	118.0	116.0					16																	50746258		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746258T>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2436T>A	16.37:g.50746258T>A							p.P812P	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	2541	+		all_cancers(37;0.0156)	812					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2436T>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	T	6.605	0.479965	0.12581	.	.	ENSG00000167207	ENST00000534057	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44636	-0.9315	4	.	.	.	.	3.8074	0.08783	0.3879:0.3633:0.1539:0.095	.	.	.	.	M	52	.	.	L	+	1	2	NOD2	49303759	0.000000	0.05858	0.314000	0.25224	0.933000	0.57130	-4.112000	0.00292	-2.898000	0.00313	-0.366000	0.07423	TTG		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		87	145	0	0	0	1	0	87	145				
KIAA1217	56243	broad.mit.edu	37	10	24722043	24722043	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:24722043A>T	ENST00000376454.3	+	4	703	c.673A>T	c.(673-675)Aaa>Taa	p.K225*	KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.K145*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.K146*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.K225*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.K225*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	225					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCACCATGAAAATGCTGGA	0.418																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(673-675)Aaa>Taa		KIAA1217							119.0	104.0	109.0					10																	24722043		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24722043A>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.673A>T	10.37:g.24722043A>T	ENSP00000365637:p.Lys225*					KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.K145*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.K225*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.K146*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.K225*	p.K225*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			4	703	+			225					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.673A>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	39	7.457216	0.98296	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	.	.	.	5.77	5.77	0.91146	.	0.096884	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0992	0.81158	1.0:0.0:0.0:0.0	.	.	.	.	X	145;225;225;225;225;75;146	.	ENSP00000365635:K225X	K	+	1	0	KIAA1217	24762049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.201000	0.70794	0.523000	0.50628	AAA		0.418	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		38	80	0	0	0	1	0	38	80				
CA10	56934	broad.mit.edu	37	17	49713312	49713312	+	Silent	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:49713312A>G	ENST00000285273.4	-	8	1804	c.693T>C	c.(691-693)agT>agC	p.S231S	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Silent_p.S231S|CA10_ENST00000451037.2_Silent_p.S231S|CA10_ENST00000570565.1_Silent_p.S156S|CA10_ENST00000340813.6_Silent_p.S237S	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	231					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AAGTGATGAAACTAGAGGTCT	0.393																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(691-693)agT>agC		carbonic anhydrase X							117.0	109.0	112.0					17																	49713312		2203	4300	6503	SO:0001819	synonymous_variant	56934				brain development			g.chr17:49713312A>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.693T>C	17.37:g.49713312A>G						CA10_ENST00000340813.6_Silent_p.S237S|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Silent_p.S156S|CA10_ENST00000442502.2_Silent_p.S231S|CA10_ENST00000285273.4_Silent_p.S231S	p.S231S	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		7	1633	-			231					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.693T>C	CCDS32684.1																																																																																				0.393	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		37	77	0	0	0	1	0	37	77				
LRFN2	57497	broad.mit.edu	37	6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:40400626G>A	ENST00000338305.6	-	2	769	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(226-228)aCg>aTg		leucine rich repeat and fibronectin type III domain containing 2							60.0	54.0	56.0					6																	40400626		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400626G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.227C>T	6.37:g.40400626G>A	ENSP00000345985:p.Thr76Met						p.T76M	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	769	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		76					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.227C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966600	0.74131	.	.	ENSG00000156564	ENST00000338305	T	0.58506	0.33	5.76	5.76	0.90799	.	0.091150	0.64402	D	0.000001	T	0.76905	0.4053	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.80551	-0.1332	10	0.72032	D	0.01	.	18.5214	0.90954	0.0:0.0:1.0:0.0	.	76	Q9ULH4	LRFN2_HUMAN	M	76	ENSP00000345985:T76M	ENSP00000345985:T76M	T	-	2	0	LRFN2	40508604	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	8.017000	0.88712	2.736000	0.93811	0.655000	0.94253	ACG		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		7	42	0	0	0	1	0	7	42				
GPR123	84435	broad.mit.edu	37	10	134906561	134906561	+	Intron	SNP	T	T	C	rs369910998	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:134906561T>C	ENST00000392607.3	+	3	439				GPR123_ENST00000607359.1_Missense_Mutation_p.V611A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCACTGTGTAGGAAAGAAG	0.607													t|||	3	0.000599042	0.0008	0.0014	5008	,	,		13999	0.0		0.0	False		,,,				2504	0.001					ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1831-1833)gTa>gCa		G protein-coupled receptor 123				0,3136		0,0,1568	49.0	50.0	50.0				0.0	10		50	2,7162		0,2,3580	no	intron	GPR123	NM_001083909.1		0,2,5148	CC,CT,TT		0.0279,0.0,0.0194			134906561	2,10298	1568	3582	5150	SO:0001627	intron_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134906561T>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.4-3917T>C	10.37:g.134906561T>C						GPR123_ENST00000392607.3_Intron	p.V611A			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	10	1832	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.1832T>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	t	0.999	-0.691688	0.03303	0.0	2.79E-4	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	.	.	.	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	5	0.87932	D	0	.	.	.	.	.	611	Q86SQ6-1	.	A	611	.	ENSP00000357566:V611A	V	+	2	0	GPR123	134756551	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.961000	0.03845	-1.241000	0.02526	-1.229000	0.01577	GTA		0.607	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			3	6	0	0	0	1	0	3	6				
MICU3	286097	broad.mit.edu	37	8	16974109	16974109	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:16974109G>A	ENST00000318063.5	+	13	1566	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	508						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GAGGATTCCGGGTAAACCTAC	0.294																																						ENST00000318063.5																			0											c.e13+1		mitochondrial calcium uptake family, member 3							45.0	51.0	49.0					8																	16974109		2199	4293	6492	SO:0001630	splice_region_variant	286097							g.chr8:16974109G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1524+1G>A	8.37:g.16974109G>A							p.R508_splice	NM_181723.2	NP_859074.1					13	1566	+								Q8IYZ3	Splice_Site	SNP	ENST00000318063.5	37	c.1524_splice	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852929	0.32699	.	.	ENSG00000155970	ENST00000519044	.	.	.	4.71	3.82	0.43975	.	.	.	.	.	T	0.59032	0.2164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55648	-0.8108	4	.	.	.	-12.3596	9.1261	0.36816	0.0778:0.0:0.7752:0.147	.	.	.	.	E	353	.	.	G	+	2	0	EFHA2	17018480	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.265000	0.72534	1.090000	0.41315	0.591000	0.81541	GGG		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	Silent	4	100	0	0	0	1	0	4	100				
ZFP14	57677	broad.mit.edu	37	19	36831234	36831234	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:36831234G>A	ENST00000270001.7	-	5	1609	c.1494C>T	c.(1492-1494)caC>caT	p.H498H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	498					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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAATTCTCTGGTGTTGAGTAA	0.393																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(1492-1494)caC>caT		ZFP14 zinc finger protein							72.0	71.0	71.0					19																	36831234		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831234G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1494C>T	19.37:g.36831234G>A							p.H498H	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1609	-	Esophageal squamous(110;0.162)		498					A7MD23	Silent	SNP	ENST00000270001.7	37	c.1494C>T	CCDS33002.1																																																																																				0.393	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		36	79	0	0	0	1	0	36	79				
TNNT3	7140	broad.mit.edu	37	11	1950354	1950354	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:1950354C>T	ENST00000397301.1	+	8	128	c.120C>T	c.(118-120)acC>acT	p.T40T	TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Silent_p.T31T|TNNT3_ENST00000278317.6_Silent_p.T29T|TNNT3_ENST00000381549.3_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	40					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TGGAAGACACCGCAGAGGAGG	0.667																																						ENST00000278317.6																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(85-87)acC>acT		troponin T type 3 (skeletal, fast)							105.0	108.0	107.0					11																	1950354		2202	4299	6501	SO:0001819	synonymous_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1950354C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.120C>T	11.37:g.1950354C>T						TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397301.1_Silent_p.T40T|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381548.3_Silent_p.T31T|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000360603.3_Intron	p.T29T	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	7	306	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	40					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.87C>T																																																																																					0.667	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		41	108	0	0	0	1	0	41	108				
PKHD1L1	93035	broad.mit.edu	37	8	110474046	110474046	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110474046A>G	ENST00000378402.5	+	48	7396	c.7292A>G	c.(7291-7293)gAa>gGa	p.E2431G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2431					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGAGAAGAAATAGGAAGT	0.393										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7291-7293)gAa>gGa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							65.0	68.0	67.0					8																	110474046		2029	4206	6235	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110474046A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7292A>G	8.37:g.110474046A>G	ENSP00000367655:p.Glu2431Gly	HNSCC(38;0.096)					p.E2431G	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7396	+			2431					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7292A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208606	0.79240	.	.	ENSG00000205038	ENST00000378402	D	0.87887	-2.31	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	L	0.60957	1.885	0.42943	D	0.994358	P	0.47484	0.896	P	0.47827	0.558	D	0.89170	0.3536	10	0.66056	D	0.02	.	13.8207	0.63318	1.0:0.0:0.0:0.0	.	2431	Q86WI1	PKHL1_HUMAN	G	2431	ENSP00000367655:E2431G	ENSP00000367655:E2431G	E	+	2	0	PKHD1L1	110543222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.939000	0.87685	2.152000	0.67230	0.528000	0.53228	GAA		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	10	0	0	0	1	0	8	10				
RYR1	6261	broad.mit.edu	37	19	39058417	39058417	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:39058417G>A	ENST00000359596.3	+	93	13519	c.13519G>A	c.(13519-13521)Gag>Aag	p.E4507K	RYR1_ENST00000360985.3_Missense_Mutation_p.E4502K|RYR1_ENST00000355481.4_Missense_Mutation_p.E4502K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4507	Pro-rich.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGCAGTGCCGAGAATGGGGA	0.597																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13504-13506)Gag>Aag		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						73.0	78.0	76.0					19																	39058417		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39058417G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13519G>A	19.37:g.39058417G>A	ENSP00000352608:p.Glu4507Lys					RYR1_ENST00000360985.3_Missense_Mutation_p.E4502K|RYR1_ENST00000359596.3_Missense_Mutation_p.E4507K	p.E4502K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		92	13635	+	all_cancers(60;7.91e-06)		4507			Pro-rich.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.13504G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033955	0.54896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94232	-3.38;-3.38;-3.38	5.06	5.06	0.68205	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000002	D	0.95859	0.8652	M	0.68317	2.08	0.43683	D	0.996129	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.95015	0.8155	10	0.40728	T	0.16	.	15.9519	0.79846	0.0:0.0:1.0:0.0	.	4502;4507	P21817-2;P21817	.;RYR1_HUMAN	K	4507;4502;4502	ENSP00000352608:E4507K;ENSP00000347667:E4502K;ENSP00000354254:E4502K	ENSP00000347667:E4502K	E	+	1	0	RYR1	43750257	1.000000	0.71417	0.979000	0.43373	0.899000	0.52679	7.592000	0.82676	2.640000	0.89533	0.491000	0.48974	GAG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			30	44	0	0	0	1	0	30	44				
WWC3	55841	broad.mit.edu	37	X	10109536	10109536	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:10109536G>A	ENST00000380861.4	+	23	3665	c.3274G>A	c.(3274-3276)Gtc>Atc	p.V1092I	WWC3_ENST00000454666.1_Missense_Mutation_p.V1092I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1092					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						AGCCGACGACGTCTGATGGAG	0.418																																						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.(3274-3276)Gtc>Atc		WWC family member 3							121.0	91.0	101.0					X																	10109536		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10109536G>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.3274G>A	X.37:g.10109536G>A	ENSP00000370242:p.Val1092Ile					WWC3_ENST00000454666.1_Missense_Mutation_p.V1092I	p.V1092I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			23	3665	+			1092					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.3274G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463705	0.84425	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.10960	2.82;2.82	5.84	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.77313	2.365	0.53688	D	0.999972	D	0.76494	0.999	D	0.68192	0.956	T	0.05666	-1.0871	9	.	.	.	.	14.2867	0.66251	0.0734:0.0:0.9266:0.0	.	1092	Q9ULE0	WWC3_HUMAN	I	1092;1092;587	ENSP00000370242:V1092I;ENSP00000399584:V1092I	.	V	+	1	0	WWC3	10069536	1.000000	0.71417	0.736000	0.30914	0.832000	0.47134	9.335000	0.96500	1.236000	0.43740	0.529000	0.55759	GTC		0.418	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		38	40	0	0	0	1	0	38	40				
PLXNA3	55558	broad.mit.edu	37	X	153696262	153696262	+	Silent	SNP	T	T	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:153696262T>A	ENST00000369682.3	+	21	3913	c.3738T>A	c.(3736-3738)acT>acA	p.T1246T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1246					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCGCAAGACTCAGGACGCGG	0.687																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3736-3738)acT>acA		plexin A3							54.0	53.0	54.0					X																	153696262		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696262T>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3738T>A	X.37:g.153696262T>A							p.T1246T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			21	3913	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1246					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.3738T>A	CCDS14752.1																																																																																				0.687	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		48	57	0	0	0	1	0	48	57				
USP47	55031	broad.mit.edu	37	11	11964459	11964459	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:11964459G>A	ENST00000399455.2	+	21	3071	c.2951G>A	c.(2950-2952)gGa>gAa	p.G984E	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.G896E|USP47_ENST00000527733.1_Missense_Mutation_p.G964E	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	984					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGGCTAATGGACTTGACTCT	0.418																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2686-2688)gGa>gAa		ubiquitin specific peptidase 47							159.0	145.0	150.0					11																	11964459		1954	4156	6110	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11964459G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2951G>A	11.37:g.11964459G>A	ENSP00000382382:p.Gly984Glu					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.G984E|USP47_ENST00000527733.1_Missense_Mutation_p.G964E	p.G896E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	19	3450	+			984					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.2687G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.604243	0.87157	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.04862	3.55;3.55;3.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.09443	-1.0674	10	0.30078	T	0.28	.	20.122	0.97964	0.0:0.0:1.0:0.0	.	984;964;896	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	E	896;964;984;181	ENSP00000339957:G896E;ENSP00000433146:G964E;ENSP00000382382:G984E	ENSP00000339957:G896E	G	+	2	0	USP47	11921035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.859000	0.98148	0.591000	0.81541	GGA		0.418	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		44	63	0	0	0	1	0	44	63				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	48	0	0	0	1	0	6	48				
ALMS1	7840	broad.mit.edu	37	2	73676804	73676804	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:73676804C>G	ENST00000264448.6	+	8	3258	c.3147C>G	c.(3145-3147)taC>taG	p.Y1049*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Y1049*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y1007*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1049	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTAGTTCTTACCCACAGAGGG	0.488																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3145-3147)taC>taG		Alstrom syndrome 1							136.0	136.0	136.0					2																	73676804		1888	4116	6004	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676804C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3147C>G	2.37:g.73676804C>G	ENSP00000264448:p.Tyr1049*					ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y1007*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Y1049*	p.Y1049*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3258	+			1049			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.3147C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.733321	0.96865	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	4.49	-5.07	0.02938	.	0.697059	0.12559	N	0.458339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7331	0.23395	0.0:0.2032:0.2493:0.5476	.	.	.	.	X	1007;1049;1049	.	ENSP00000264448:Y1049X	Y	+	3	2	ALMS1	73530312	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.773000	0.04689	-1.217000	0.02604	-0.229000	0.12294	TAC		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		69	170	0	0	0	1	0	69	170				
MED12L	116931	broad.mit.edu	37	3	151100525	151100525	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:151100525C>T	ENST00000474524.1	+	31	4605	c.4567C>T	c.(4567-4569)Cta>Tta	p.L1523L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L1383L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1523						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAACTCCGCCTAAATTTGGT	0.393																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4567-4569)Cta>Tta		mediator complex subunit 12-like							59.0	57.0	58.0					3																	151100525		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151100525C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4567C>T	3.37:g.151100525C>T						MED12L_ENST00000273432.4_Silent_p.L1383L|P2RY12_ENST00000302632.3_Intron	p.L1523L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		31	4605	+			1523					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.4567C>T	CCDS33876.1																																																																																				0.393	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		12	53	0	0	0	1	0	12	53				
PPARA	5465	broad.mit.edu	37	22	46614182	46614182	+	Missense_Mutation	SNP	G	G	A	rs549236046	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:46614182G>A	ENST00000396000.2	+	5	657	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PPARA_ENST00000434345.2_Missense_Mutation_p.R131Q|PPARA_ENST00000407236.1_Missense_Mutation_p.R131Q|PPARA_ENST00000262735.5_Missense_Mutation_p.R131Q|PPARA_ENST00000402126.1_Missense_Mutation_p.R131Q			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	131					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CGAACGATTCGACTCAAGCTG	0.468													G|||	5	0.000998403	0.0	0.0	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.0051					ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(391-393)cGa>cAa		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						102.0	90.0	94.0					22																	46614182		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614182G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.392G>A	22.37:g.46614182G>A	ENSP00000379322:p.Arg131Gln					PPARA_ENST00000434345.2_Missense_Mutation_p.R131Q|PPARA_ENST00000262735.5_Missense_Mutation_p.R131Q|PPARA_ENST00000402126.1_Missense_Mutation_p.R131Q|PPARA_ENST00000407236.1_Missense_Mutation_p.R131Q	p.R131Q			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	657	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	131					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.392G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271325	0.80469	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.52	5.52	0.82312	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.056880	0.64402	D	0.000001	D	0.93903	0.8049	N	0.05124	-0.11	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.52710	0.707;0.707	D	0.92386	0.5917	10	0.12430	T	0.62	.	18.4279	0.90615	0.0:0.0:1.0:0.0	.	131;131	F1D8S4;Q07869	.;PPARA_HUMAN	Q	131	ENSP00000379322:R131Q;ENSP00000262735:R131Q;ENSP00000385523:R131Q;ENSP00000385246:R131Q;ENSP00000408149:R131Q	ENSP00000262735:R131Q	R	+	2	0	PPARA	44992846	1.000000	0.71417	0.314000	0.25224	0.624000	0.37722	7.746000	0.85057	2.582000	0.87167	0.591000	0.81541	CGA		0.468	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		13	39	0	0	0	1	0	13	39				
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(343-345)taC>taT		DDB1 and CUL4 associated factor 4-like 1							105.0	97.0	100.0					4																	41984154		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984154C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.345C>T	4.37:g.41984154C>T							p.Y115Y	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	442	+			115					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.345C>T	CCDS33978.1																																																																																				0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		40	66	0	0	0	1	0	40	66				
KIDINS220	57498	broad.mit.edu	37	2	8934009	8934009	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:8934009C>A	ENST00000256707.3	-	12	1388	c.1207G>T	c.(1207-1209)Gca>Tca	p.A403S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.A404S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A403S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A403S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A361S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	403					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCGCCTGCTTTGTTGGGC	0.413																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1207-1209)Gca>Tca		kinase D-interacting substrate, 220kDa							84.0	77.0	79.0					2																	8934009		1819	4080	5899	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8934009C>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1207G>T	2.37:g.8934009C>A	ENSP00000256707:p.Ala403Ser					KIDINS220_ENST00000319688.5_Missense_Mutation_p.A404S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A361S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A403S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A403S	p.A403S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			12	1388	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		403					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1207G>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	c	12.41	1.929868	0.34096	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.52526	0.66;2.46;2.46;2.46;2.46;2.46;2.46	5.83	4.95	0.65309	Ankyrin repeat-containing domain (2);	0.096891	0.64402	N	0.000001	T	0.31482	0.0798	N	0.19112	0.55	0.44908	D	0.99792	B;B;B;B	0.09022	0.0;0.002;0.001;0.0	B;B;B;B	0.16289	0.001;0.01;0.015;0.007	T	0.09015	-1.0694	10	0.21014	T	0.42	.	11.5458	0.50693	0.1255:0.8086:0.0:0.0659	.	404;404;361;403	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	150;87;403;403;361;403;404;404	ENSP00000420364:A150S;ENSP00000256707:A403S;ENSP00000411849:A403S;ENSP00000414923:A361S;ENSP00000418974:A403S;ENSP00000419964:A404S;ENSP00000319947:A404S	ENSP00000256707:A403S	A	-	1	0	KIDINS220	8851460	1.000000	0.71417	0.998000	0.56505	0.222000	0.24845	3.772000	0.55325	1.476000	0.48215	0.632000	0.83419	GCA		0.413	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		44	81	1	0	3.54561e-26	1	3.88598e-26	44	81				
RP11-85G18.6	0	broad.mit.edu	37	10	27535230	27535230	+	lincRNA	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:27535230G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTCTCACTTCGTGAAGAGCAT	0.438																																						ENST00000574842.1																			0																																																			0							g.chr10:27535230G>A																													10.37:g.27535230G>A														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.438	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			14	25	0	0	0	1	0	14	25				
RTP2	344892	broad.mit.edu	37	3	187416478	187416478	+	Silent	SNP	G	G	T	rs140924394		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:187416478G>T	ENST00000358241.1	-	2	914	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	162					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TCCAGTGAACGATGCCCTCCT	0.657																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(484-486)atC>atA		receptor (chemosensory) transporter protein 2							54.0	54.0	54.0					3																	187416478		2203	4300	6503	SO:0001819	synonymous_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416478G>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.486C>A	3.37:g.187416478G>T							p.I162I	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	914	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		162					Q6NVH4	Silent	SNP	ENST00000358241.1	37	c.486C>A	CCDS33911.1																																																																																				0.657	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		13	36	1	0	5.50884e-06	1	5.67452e-06	13	36				
UBE2L3	7332	broad.mit.edu	37	22	21947165	21947165	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:21947165C>T	ENST00000342192.4	+	2	241	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.R73C	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	15				R -> S (in Ref. 6; BAG61806). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					TGAAGAAATCCGCAAATGTGG	0.413																																						ENST00000342192.4																		UBE2L3/KRAS(2)	0				large_intestine(4)	4						c.(43-45)Cgc>Tgc		ubiquitin-conjugating enzyme E2L 3							95.0	80.0	85.0					22																	21947165		2203	4300	6503	SO:0001583	missense	7332				cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr22:21947165C>T	AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.43C>T	22.37:g.21947165C>T	ENSP00000344259:p.Arg15Cys					UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.R73C	p.R15C	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN			2	241	+	Colorectal(54;0.105)		15					B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	37	c.43C>T	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696974	0.68386	.	.	ENSG00000185651	ENST00000458578;ENST00000342192	T;T	0.38887	1.11;1.11	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.78456	2.415	0.80722	D	1	B;B	0.21452	0.056;0.016	B;B	0.15870	0.014;0.001	T	0.48410	-0.9038	10	0.66056	D	0.02	.	17.5362	0.87832	0.0:1.0:0.0:0.0	.	15;15	P68036;A8K4W8	UB2L3_HUMAN;.	C	73;15	ENSP00000400906:R73C;ENSP00000344259:R15C	ENSP00000344259:R15C	R	+	1	0	UBE2L3	20277165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.815000	0.96918	0.561000	0.74099	CGC		0.413	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		73	43	0	0	0	1	0	73	43				
PCDH7	5099	broad.mit.edu	37	4	30724930	30724930	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:30724930T>C	ENST00000361762.2	+	1	2894	c.1886T>C	c.(1885-1887)gTg>gCg	p.V629A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V629A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	629	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGTGCAGGTGGCTGATAAA	0.502																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1885-1887)gTg>gCg		protocadherin 7							108.0	112.0	111.0					4																	30724930		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724930T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1886T>C	4.37:g.30724930T>C	ENSP00000355243:p.Val629Ala					PCDH7_ENST00000543491.1_Missense_Mutation_p.V629A	p.V629A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2894	+			629			Cadherin 5.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1886T>C	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632234	0.67015	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.68181	-0.31;-0.31	5.37	5.37	0.77165	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.87034	0.6077	H	0.95470	3.675	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90920	0.4782	9	0.87932	D	0	.	15.5335	0.75983	0.0:0.0:0.0:1.0	.	629;582;629	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	A	629;629;582	ENSP00000355243:V629A;ENSP00000441802:V629A	ENSP00000330302:V582A	V	+	2	0	PCDH7	30334028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.254000	0.74563	0.533000	0.62120	GTG		0.502	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		28	67	0	0	0	1	0	28	67				
CEP170	9859	broad.mit.edu	37	1	243349562	243349562	+	Splice_Site	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243349562A>G	ENST00000366542.1	-	9	1322	c.1271T>C	c.(1270-1272)gTt>gCt	p.V424A	CEP170_ENST00000366543.1_Splice_Site_p.V424A|CEP170_ENST00000366544.1_Splice_Site_p.V424A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	424						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGACTTACAACAGCTTGGTC	0.413																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.e9+1		centrosomal protein 170kDa							139.0	136.0	137.0					1																	243349562		1866	4097	5963	SO:0001630	splice_region_variant	9859					centriole|microtubule|spindle		g.chr1:243349562A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1272+1T>C	1.37:g.243349562A>G						CEP170_ENST00000366543.1_Splice_Site_p.V424_splice|CEP170_ENST00000366544.1_Splice_Site_p.V424_splice	p.V424_splice	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		9	1322	-	all_neural(11;0.101)	all_cancers(173;0.003)	424					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Splice_Site	SNP	ENST00000366542.1	37	c.1272_splice	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.718170	0.30503	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	T;T;T	0.44482	0.92;0.99;1.0	5.3	3.0	0.34707	.	1.392810	0.06897	N	0.805365	T	0.15998	0.0385	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.31081	-0.9956	10	0.08179	T	0.78	-6.071	5.169	0.15101	0.6637:0.1656:0.1708:0.0	.	424;424;424	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	A	424;424;424;322	ENSP00000355500:V424A;ENSP00000355502:V424A;ENSP00000355501:V424A	ENSP00000355500:V424A	V	-	2	0	CEP170	241416185	0.071000	0.21146	1.000000	0.80357	0.995000	0.86356	0.646000	0.24797	0.349000	0.23975	0.477000	0.44152	GTT		0.413	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	Missense_Mutation	62	189	0	0	0	1	0	62	189				
PIWIL2	55124	broad.mit.edu	37	8	22212931	22212931	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:22212931G>A	ENST00000454009.2	+	23	3344	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	PIWIL2_ENST00000356766.6_Silent_p.K945K|PIWIL2_ENST00000521356.1_Silent_p.K909K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	945	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTCCTTGCAAGTATGCCCACA	0.488																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2833-2835)aaG>aaA		piwi-like RNA-mediated gene silencing 2							151.0	122.0	132.0					8																	22212931		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22212931G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2835G>A	8.37:g.22212931G>A						PIWIL2_ENST00000454009.2_Silent_p.K945K|PIWIL2_ENST00000521356.1_Silent_p.K909K	p.K945K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	23	2983	+			945			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.2835G>A	CCDS6029.1																																																																																				0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			39	70	0	0	0	1	0	39	70				
VN1R1	57191	broad.mit.edu	37	19	57967712	57967712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:57967712G>T	ENST00000321039.3	-	1	142	c.143C>A	c.(142-144)tCa>tAa	p.S48*	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(142-144)tCa>tAa		vomeronasal 1 receptor 1							55.0	56.0	56.0					19																	57967712		2203	4300	6503	SO:0001587	stop_gained	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967712G>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.143C>A	19.37:g.57967712G>T	ENSP00000322339:p.Ser48*					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.S48*	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	142	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	48					B3KSV5|Q7Z5H8|Q7Z5H9	Nonsense_Mutation	SNP	ENST00000321039.3	37	c.143C>A	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374475	0.42105	.	.	ENSG00000178201	ENST00000321039	.	.	.	4.18	-0.788	0.10939	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	2.1666	0.03839	0.4412:0.3232:0.0929:0.1426	.	.	.	.	X	48	.	ENSP00000322339:S48X	S	-	2	0	VN1R1	62659524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.324000	0.08589	-1.353000	0.01230	TCA		0.358	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		27	65	1	0	5.61819e-17	1	5.92071e-17	27	65				
DBH	1621	broad.mit.edu	37	9	136507569	136507569	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:136507569C>T	ENST00000393056.2	+	3	739	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	243					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGGCTTCTCTCGGCACCACAT	0.612																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(727-729)Cgg>Tgg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						53.0	49.0	50.0					9																	136507569		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507569C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.727C>T	9.37:g.136507569C>T	ENSP00000376776:p.Arg243Trp						p.R243W	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	739	+			243					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.727C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896248	0.33442	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.35236	1.32;1.32	4.6	-0.0184	0.13964	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.466636	0.23041	N	0.052603	T	0.53190	0.1781	M	0.83953	2.67	0.09310	N	0.999992	D	0.60575	0.988	P	0.61722	0.893	T	0.45877	-0.9231	10	0.87932	D	0	-1.1111	8.3891	0.32518	0.6496:0.2649:0.0:0.0855	.	243	P09172	DOPO_HUMAN	W	243;180;180	ENSP00000376776:R243W;ENSP00000263611:R180W	ENSP00000263611:R180W	R	+	1	2	DBH	135497390	0.048000	0.20356	0.021000	0.16686	0.001000	0.01503	2.114000	0.41911	0.086000	0.17137	-0.258000	0.10820	CGG		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		6	23	0	0	0	1	0	6	23				
AKT3	10000	broad.mit.edu	37	1	243801019	243801019	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243801019T>C	ENST00000366539.1	-	6	655	c.455A>G	c.(454-456)aAa>aGa	p.K152R	AKT3_ENST00000366540.1_Missense_Mutation_p.K152R|AKT3_ENST00000263826.5_Missense_Mutation_p.K152R|AKT3_ENST00000336199.5_Missense_Mutation_p.K152R			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ACCTAGTAGTTTCAAATAGTC	0.269																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(454-456)aAa>aGa		v-akt murine thymoma viral oncogene homolog 3							76.0	74.0	75.0					1																	243801019		2201	4296	6497	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243801019T>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.455A>G	1.37:g.243801019T>C	ENSP00000355497:p.Lys152Arg					AKT3_ENST00000263826.5_Missense_Mutation_p.K152R|AKT3_ENST00000366540.1_Missense_Mutation_p.K152R|AKT3_ENST00000336199.5_Missense_Mutation_p.K152R	p.K152R			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		6	655	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	152			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.455A>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745385	0.89663	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.16201	0.385	0.80722	D	1	P;P	0.50443	0.935;0.611	D;B	0.63597	0.916;0.436	T	0.30268	-0.9984	10	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	152;152	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	R	152	ENSP00000336943:K152R;ENSP00000355498:K152R;ENSP00000355497:K152R;ENSP00000263826:K152R	ENSP00000263826:K152R	K	-	2	0	AKT3	241867642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	AAA		0.269	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		10	44	0	0	0	1	0	10	44				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	62	0	0	0	1	0	29	62				
CTIF	9811	broad.mit.edu	37	18	46284504	46284504	+	Missense_Mutation	SNP	G	G	A	rs202032754		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:46284504G>A	ENST00000256413.3	+	8	1094	c.799G>A	c.(799-801)Gca>Aca	p.A267T	CTIF_ENST00000382998.4_Missense_Mutation_p.A267T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	267	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.A267T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGAGGCAGGCGCACACCGCAA	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17129	0.0		0.0	False		,,,				2504	0.0					ENST00000256413.3																			1	Substitution - Missense(1)	p.A267T(1)	ovary(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(799-801)Gca>Aca		CBP80/20-dependent translation initiation factor							91.0	85.0	87.0					18																	46284504		2203	4299	6502	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284504G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.799G>A	18.37:g.46284504G>A	ENSP00000256413:p.Ala267Thr					CTIF_ENST00000382998.4_Missense_Mutation_p.A267T	p.A267T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1094	+			267			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.799G>A	CCDS11935.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.373	0.835744	0.16820	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.41400	1.01;1.0	5.19	-5.39	0.02664	.	1.302590	0.05017	N	0.471985	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19484	-1.0304	10	0.21540	T	0.41	-11.6721	7.579	0.27952	0.6209:0.0:0.2693:0.1098	.	267;267	O43310-2;O43310	.;CTIF_HUMAN	T	267;267;219	ENSP00000256413:A267T;ENSP00000372459:A267T	ENSP00000256413:A267T	A	+	1	0	CTIF	44538502	0.000000	0.05858	0.573000	0.28510	0.983000	0.72400	-1.284000	0.02793	-0.702000	0.05056	-0.367000	0.07326	GCA		0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		26	42	0	0	0	1	0	26	42				
EYS	346007	broad.mit.edu	37	6	66094308	66094308	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:66094308A>T	ENST00000370621.3	-	8	1796	c.1270T>A	c.(1270-1272)Tgg>Agg	p.W424R	EYS_ENST00000342421.5_Missense_Mutation_p.W424R|EYS_ENST00000503581.1_Missense_Mutation_p.W424R|EYS_ENST00000370618.3_Missense_Mutation_p.W424R|EYS_ENST00000393380.2_Missense_Mutation_p.W424R|EYS_ENST00000370616.2_Missense_Mutation_p.W424R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	424					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGAAACACCATTCTTCATTC	0.323																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1270-1272)Tgg>Agg		eyes shut homolog (Drosophila)							99.0	97.0	98.0					6																	66094308		2202	4293	6495	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66094308A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1270T>A	6.37:g.66094308A>T	ENSP00000359655:p.Trp424Arg					EYS_ENST00000370616.2_Missense_Mutation_p.W424R|EYS_ENST00000393380.2_Missense_Mutation_p.W424R|EYS_ENST00000370618.3_Missense_Mutation_p.W424R|EYS_ENST00000370621.3_Missense_Mutation_p.W424R|EYS_ENST00000342421.5_Missense_Mutation_p.W424R	p.W424R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			8	1807	-			424					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1270T>A		.	.	.	.	.	.	.	.	.	.	A	12.93	2.085251	0.36758	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	6.07	6.07	0.98685	.	.	.	.	.	T	0.20333	0.0489	N	0.02334	-0.595	0.28782	N	0.899801	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.972	T	0.36504	-0.9745	9	0.21540	T	0.41	.	15.8218	0.78654	1.0:0.0:0.0:0.0	.	424;424;424	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	R	424	ENSP00000424243:W424R;ENSP00000359655:W424R;ENSP00000359650:W424R;ENSP00000377042:W424R;ENSP00000341818:W424R;ENSP00000359652:W424R	ENSP00000341818:W424R	W	-	1	0	EYS	66151029	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	4.814000	0.62627	2.326000	0.78906	0.533000	0.62120	TGG		0.323	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	52	0	0	0	1	0	7	52				
TET2	54790	broad.mit.edu	37	4	106158254	106158254	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158254A>G	ENST00000540549.1	+	3	4015	c.3155A>G	c.(3154-3156)aAg>aGg	p.K1052R	TET2_ENST00000513237.1_Missense_Mutation_p.K1073R|TET2_ENST00000394764.1_Missense_Mutation_p.K1052R|TET2_ENST00000413648.2_Missense_Mutation_p.K1052R|TET2_ENST00000545826.1_Missense_Mutation_p.K1052R|TET2_ENST00000380013.4_Missense_Mutation_p.K1052R|TET2_ENST00000305737.2_Missense_Mutation_p.K1052R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1052					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAATCACAGAAGCAAGTAAAA	0.453			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3217-3219)aAg>aGg		tet methylcytosine dioxygenase 2							77.0	75.0	76.0					4																	106158254		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158254A>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3155A>G	4.37:g.106158254A>G	ENSP00000442788:p.Lys1052Arg					TET2_ENST00000380013.4_Missense_Mutation_p.K1052R|TET2_ENST00000545826.1_Missense_Mutation_p.K1052R|TET2_ENST00000305737.2_Missense_Mutation_p.K1052R|TET2_ENST00000540549.1_Missense_Mutation_p.K1052R|TET2_ENST00000413648.2_Missense_Mutation_p.K1052R|TET2_ENST00000394764.1_Missense_Mutation_p.K1052R	p.K1073R			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	4015	+		Myeloproliferative disorder(5;0.0393)	1052		E -> V.			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.3218A>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942263	0.53079	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.22336	1.96;1.96;3.36;1.96;1.96;1.96;1.96	5.79	4.58	0.56647	.	0.474719	0.20378	N	0.093519	T	0.21387	0.0515	L	0.36672	1.1	0.40571	D	0.981307	B;B;P	0.50272	0.066;0.066;0.933	B;B;P	0.45406	0.067;0.067;0.479	T	0.01516	-1.1335	10	0.52906	T	0.07	.	12.0336	0.53412	0.932:0.0:0.068:0.0	.	1073;1052;1052	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	R	1052;1052;1052;1073;1052;1052;1052	ENSP00000306705:K1052R;ENSP00000442788:K1052R;ENSP00000442867:K1052R;ENSP00000425443:K1073R;ENSP00000369351:K1052R;ENSP00000378245:K1052R;ENSP00000391448:K1052R	ENSP00000265149:K1052R	K	+	2	0	TET2	106377703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.832000	0.75329	0.976000	0.38417	0.533000	0.62120	AAG		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		34	60	0	0	0	1	0	34	60				
QRICH1	54870	broad.mit.edu	37	3	49070105	49070105	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:49070105G>A	ENST00000395443.2	-	8	2469	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	QRICH1_ENST00000357496.2_Missense_Mutation_p.T666M|RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000424300.1_Missense_Mutation_p.T666M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	666						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCGGATACTCGTGCTTTTATC	0.507																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1996-1998)aCg>aTg		glutamine-rich 1							129.0	117.0	121.0					3																	49070105		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49070105G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1997C>T	3.37:g.49070105G>A	ENSP00000378830:p.Thr666Met					QRICH1_ENST00000357496.2_Missense_Mutation_p.T666M|QRICH1_ENST00000424300.1_Missense_Mutation_p.T666M	p.T666M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	2469	-			666					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1997C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815296	0.90790	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.78290	-0.2261	9	0.72032	D	0.01	-2.5177	19.4646	0.94932	0.0:0.0:1.0:0.0	.	666	Q2TAL8	QRIC1_HUMAN	M	666	.	ENSP00000350094:T666M	T	-	2	0	QRICH1	49045109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	ACG		0.507	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		40	90	0	0	0	1	0	40	90				
CRISPLD2	83716	broad.mit.edu	37	16	84879426	84879426	+	Missense_Mutation	SNP	C	C	T	rs140773433		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:84879426C>T	ENST00000262424.5	+	3	499	c.275C>T	c.(274-276)gCg>gTg	p.A92V	CRISPLD2_ENST00000569090.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	92	SCP.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TCTGCTGCAGCGTGGGCCAGT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16947	0.0		0.0	False		,,,				2504	0.0					ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(274-276)gCg>gTg		cysteine-rich secretory protein LCCL domain containing 2		C	VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	84.0	67.0	73.0		275	4.2	0.0	16	dbSNP_134	73	0,8600		0,0,4300	no	missense	CRISPLD2	NM_031476.3	64	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	92/498	84879426	1,12997	2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84879426C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.275C>T	16.37:g.84879426C>T	ENSP00000262424:p.Ala92Val					CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A92V	p.A92V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			3	499	+			92					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.275C>T	CCDS10949.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	11.90	1.777901	0.31502	2.27E-4	0.0	ENSG00000103196	ENST00000262424	T	0.08370	3.1	5.21	4.24	0.50183	CAP domain (3);	0.253129	0.40818	N	0.001014	T	0.17577	0.0422	M	0.78637	2.42	0.24529	N	0.994123	B;D;P;P	0.54601	0.046;0.967;0.483;0.777	B;P;B;B	0.47102	0.166;0.537;0.221;0.123	T	0.08126	-1.0737	10	0.66056	D	0.02	.	13.7205	0.62723	0.1555:0.8445:0.0:0.0	.	92;92;92;92	Q9H0B8;Q9H0B8-5;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.;.	V	92	ENSP00000262424:A92V	ENSP00000262424:A92V	A	+	2	0	CRISPLD2	83436927	0.628000	0.27138	0.012000	0.15200	0.057000	0.15508	2.704000	0.47118	1.167000	0.42706	0.506000	0.49869	GCG		0.597	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		32	49	0	0	0	1	0	32	49				
SERPINB5	5268	broad.mit.edu	37	18	61156644	61156644	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:61156644A>G	ENST00000382771.4	+	4	663	c.371A>G	c.(370-372)aAa>aGa	p.K124R	SERPINB5_ENST00000489441.1_Missense_Mutation_p.K124R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	124					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCAAAGATAAATTGGAAGAA	0.383																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(370-372)aAa>aGa		serpin peptidase inhibitor, clade B (ovalbumin), member 5							121.0	114.0	116.0					18																	61156644		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156644A>G	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.371A>G	18.37:g.61156644A>G	ENSP00000372221:p.Lys124Arg					SERPINB5_ENST00000489441.1_Missense_Mutation_p.K124R	p.K124R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			4	663	+			124					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.371A>G	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351135	0.41599	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84660	-1.88;-1.88	5.75	5.75	0.90469	Serpin domain (3);	0.062457	0.64402	D	0.000003	D	0.86606	0.5973	L	0.50333	1.59	0.44668	D	0.997654	D;B	0.53151	0.958;0.016	P;B	0.51101	0.659;0.01	D	0.86952	0.2086	10	0.49607	T	0.09	.	16.0154	0.80434	1.0:0.0:0.0:0.0	.	124;124	P36952;P36952-2	SPB5_HUMAN;.	R	124	ENSP00000372221:K124R;ENSP00000408821:K124R	ENSP00000372221:K124R	K	+	2	0	SERPINB5	59307624	1.000000	0.71417	0.950000	0.38849	0.936000	0.57629	4.679000	0.61649	2.323000	0.78572	0.533000	0.62120	AAA		0.383	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		4	89	0	0	0	1	0	4	89				
FOLH1B	219595	broad.mit.edu	37	11	89420577	89420577	+	RNA	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:89420577T>C	ENST00000532352.1	+	0	1392							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTAAAAAAAGTCCTTCCCCAG	0.338																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							59.0	61.0	61.0					11																	89420577		2201	4298	6499			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89420577T>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89420577T>C										Q9HBA9	FOH1B_HUMAN			0	1392	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.338	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		40	102	0	0	0	1	0	40	102				
NOD2	64127	broad.mit.edu	37	16	50744968	50744968	+	Silent	SNP	C	C	T	rs104895476		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50744968C>T	ENST00000300589.2	+	4	1251	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	382	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		D -> E (in EOS). {ECO:0000269|PubMed:15459013}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.D382D(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGGCTTTGACGAGTTCAAGT	0.542																																						ENST00000300589.2																			1	Substitution - coding silent(1)	p.D382D(1)	endometrium(1)	cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52	GRCh37	CM050186	NOD2	M	rs104895476	c.(1144-1146)gaC>gaT		nucleotide-binding oligomerization domain containing 2		C		1,4395	2.1+/-5.4	0,1,2197	92.0	81.0	85.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1146	-8.9	0.8	16	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous	NOD2	NM_022162.1		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		382/1041	50744968	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744968C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1146C>T	16.37:g.50744968C>T							p.D382D	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1251	+		all_cancers(37;0.0156)	382		D -> E (in EOS).	NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1146C>T	CCDS10746.1																																																																																				0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		30	61	0	0	0	1	0	30	61				
TTC8	123016	broad.mit.edu	37	14	89337895	89337895	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:89337895G>A	ENST00000345383.5	+	11	1106	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	TTC8_ENST00000536576.1_Missense_Mutation_p.R112Q|TTC8_ENST00000346301.4_Missense_Mutation_p.R311Q|TTC8_ENST00000380656.2_Missense_Mutation_p.R351Q|TTC8_ENST00000354441.6_Missense_Mutation_p.R86Q|TTC8_ENST00000358622.5_Missense_Mutation_p.R153Q|TTC8_ENST00000338104.6_Missense_Mutation_p.R367Q	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	377					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R351Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTGAAAAGGCGGCTGCTGCAG	0.363																																						ENST00000338104.6																			1	Substitution - Missense(1)	p.R351Q(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1099-1101)cGg>cAg		tetratricopeptide repeat domain 8							63.0	61.0	62.0					14																	89337895		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89337895G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1022G>A	14.37:g.89337895G>A	ENSP00000339486:p.Arg341Gln					TTC8_ENST00000346301.4_Missense_Mutation_p.R311Q|TTC8_ENST00000354441.6_Missense_Mutation_p.R86Q|TTC8_ENST00000345383.5_Missense_Mutation_p.R341Q|TTC8_ENST00000358622.5_Missense_Mutation_p.R153Q|TTC8_ENST00000536576.1_Missense_Mutation_p.R112Q|TTC8_ENST00000380656.2_Missense_Mutation_p.R351Q	p.R367Q			Q8TAM2	TTC8_HUMAN			12	1152	+			377					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1100G>A	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.426369|5.426369	0.96131|0.96131	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622	.|T;T;T;T;T;T;T	.|0.54279	.|0.58;0.61;0.58;0.58;0.61;0.58;0.58	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77485|0.77485	0.4137|0.4137	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.995;0.978;0.998;0.998	T|T	0.80327|0.80327	-0.1429|-0.1429	5|10	.|0.87932	.|D	.|0	-11.3999|-11.3999	19.8097|19.8097	0.96542|0.96542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|86;112;377;321;351	.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|.;.;TTC8_HUMAN;.;.	S|Q	301|341;112;311;367;86;351;153	.|ENSP00000339486:R341Q;ENSP00000445067:R112Q;ENSP00000298324:R311Q;ENSP00000337653:R367Q;ENSP00000346427:R86Q;ENSP00000370031:R351Q;ENSP00000351439:R153Q	.|ENSP00000337653:R367Q	G|R	+|+	1|2	0|0	TTC8|TTC8	88407648|88407648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.429000|9.429000	0.97481|0.97481	2.685000|2.685000	0.91497|0.91497	0.484000|0.484000	0.47621|0.47621	GGC|CGG		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		12	53	0	0	0	1	0	12	53				
PCDHB12	56124	broad.mit.edu	37	5	140589098	140589098	+	Missense_Mutation	SNP	G	G	A	rs371376851		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:140589098G>A	ENST00000239450.2	+	1	808	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCGCCCGGAGCTCAGTTT	0.502																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(619-621)Gag>Aag									67.0	67.0	67.0					5																	140589098		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589098G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.619G>A	5.37:g.140589098G>A	ENSP00000239450:p.Glu207Lys					PCDHB12_ENST00000541609.1_Intron	p.E207K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	808	+			207			Cadherin 2.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.619G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361359	0.24684	.	.	ENSG00000120328	ENST00000239450	T	0.01705	4.68	4.19	1.08	0.20341	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07503	0.0189	M	0.86651	2.83	0.09310	N	1	D	0.55385	0.971	P	0.62435	0.902	T	0.21690	-1.0238	9	0.41790	T	0.15	.	3.0351	0.06119	0.1487:0.4268:0.2796:0.145	.	207	Q9Y5F1	PCDBC_HUMAN	K	207	ENSP00000239450:E207K	ENSP00000239450:E207K	E	+	1	0	PCDHB12	140569282	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.016000	0.12613	-0.030000	0.13804	0.591000	0.81541	GAG		0.502	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		27	50	0	0	0	1	0	27	50				
KRBOX1	100506243	broad.mit.edu	37	3	42982774	42982774	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:42982774C>G	ENST00000418176.1	+	2	2127	c.93C>G	c.(91-93)atC>atG	p.I31M	KRBOX1_ENST00000383748.4_Missense_Mutation_p.I31M|KRBOX1_ENST00000443313.1_Missense_Mutation_p.I31M|KRBOX1_ENST00000426937.1_Missense_Mutation_p.I31M|KRBOX1_ENST00000418093.2_3'UTR			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			lung(2)	2						AATGGGCCATCATGGTGCCTG	0.517																																						ENST00000418176.1																			0				lung(2)	2						c.(91-93)atC>atG		KRAB box domain containing 1																																				SO:0001583	missense	100506243				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr3:42982774C>G		CCDS54572.1	3p22.1	2014-02-12	2010-07-29		ENSG00000240747	ENSG00000240747		"""-"""	38708	protein-coding gene	gene with protein product							Standard	NM_001205272		Approved		uc003cmm.4	C9JBD0	OTTHUMG00000156448	ENST00000418176.1:c.93C>G	3.37:g.42982774C>G	ENSP00000388094:p.Ile31Met					KRBOX1_ENST00000426937.1_Missense_Mutation_p.I31M|KRBOX1_ENST00000383748.4_Missense_Mutation_p.I31M|KRBOX1_ENST00000418093.2_3'UTR	p.I31M			C9JBD0	KRBX1_HUMAN			2	2127	+			31			KRAB.		B4DJE8	Missense_Mutation	SNP	ENST00000418176.1	37	c.93C>G	CCDS54572.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349459	0.24426	.	.	ENSG00000240747	ENST00000426937;ENST00000383748;ENST00000418176	T;T;T	0.01665	4.7;4.7;4.7	4.73	2.87	0.33458	Krueppel-associated box (4);	0.411431	0.18006	N	0.154741	T	0.02012	0.0063	N	0.03608	-0.345	0.09310	N	0.999999	D	0.61697	0.99	D	0.64506	0.926	T	0.53851	-0.8380	10	0.34782	T	0.22	.	5.3317	0.15936	0.0:0.6449:0.167:0.1881	.	31	C9JBD0	KRBX1_HUMAN	M	31	ENSP00000413859:I31M;ENSP00000373254:I31M;ENSP00000388094:I31M	ENSP00000373254:I31M	I	+	3	3	KRBOX1	42957778	0.000000	0.05858	0.872000	0.34217	0.373000	0.29922	-0.190000	0.09615	1.200000	0.43188	0.655000	0.94253	ATC		0.517	KRBOX1-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344236.1	NM_001205272		8	17	0	0	0	1	0	8	17				
RANBP17	64901	broad.mit.edu	37	5	170338003	170338003	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:170338003C>G	ENST00000523189.1	+	7	789	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	209					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCAGGATCAATGTCAGCA	0.348			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(625-627)Caa>Gaa		RAN binding protein 17							100.0	95.0	96.0					5																	170338003		2203	4299	6502	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170338003C>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.625C>G	5.37:g.170338003C>G	ENSP00000427975:p.Gln209Glu						p.Q209E	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	789	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	209					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.625C>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	c	1.404	-0.577300	0.03854	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.21361	2.01	5.34	0.272	0.15645	Armadillo-type fold (1);	0.362324	0.23409	N	0.048497	T	0.08088	0.0202	N	0.02158	-0.66	0.31012	N	0.719088	B	0.06786	0.001	B	0.04013	0.001	T	0.39014	-0.9634	10	0.02654	T	1	-0.1343	21.0692	0.99945	0.0:0.2836:0.7164:0.0	.	209	Q9H2T7	RBP17_HUMAN	E	209;105	ENSP00000427975:Q209E	ENSP00000373770:Q209E	Q	+	1	0	RANBP17	170270581	1.000000	0.71417	0.290000	0.24890	0.967000	0.64934	0.788000	0.26872	-0.233000	0.09797	-0.340000	0.08031	CAA		0.348	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		29	67	0	0	0	1	0	29	67				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	p.T125_splice	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)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	24	56	0	0	0	1	0	24	56				
NFIL3	4783	broad.mit.edu	37	9	94172918	94172918	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:94172918C>T	ENST00000297689.3	-	2	493	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	33					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGACACTTCCGTTAAAGCAG	0.473																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(97-99)acG>acA		nuclear factor, interleukin 3 regulated							132.0	126.0	128.0					9																	94172918		2203	4300	6503	SO:0001819	synonymous_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172918C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.99G>A	9.37:g.94172918C>T							p.T33T	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	493	-			33					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	ENST00000297689.3	37	c.99G>A	CCDS6690.1																																																																																				0.473	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		5	238	0	0	0	1	0	5	238				
TSC1	7248	broad.mit.edu	37	9	135798766	135798766	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:135798766G>A	ENST00000298552.3	-	6	698	c.477C>T	c.(475-477)ggC>ggT	p.G159G	TSC1_ENST00000440111.2_Silent_p.G159G|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Silent_p.G159G|TSC1_ENST00000545250.1_Silent_p.G108G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	159					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATGACAGACGGCCAAAAATGT	0.438			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(475-477)ggC>ggT		tuberous sclerosis 1							144.0	118.0	127.0					9																	135798766		2203	4300	6503	SO:0001819	synonymous_variant	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135798766G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.477C>T	9.37:g.135798766G>A						TSC1_ENST00000403810.1_Silent_p.G159G|TSC1_ENST00000545250.1_Silent_p.G108G|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.G159G	p.G159G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	6	698	-			159					B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	c.477C>T	CCDS6956.1																																																																																				0.438	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			4	48	0	0	0	1	0	4	48				
MAML1	9794	broad.mit.edu	37	5	179193104	179193104	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:179193104C>T	ENST00000292599.3	+	2	1356	c.1093C>T	c.(1093-1095)Ccg>Tcg	p.P365S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCTGATGCCGGCATCAGC	0.627																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1093-1095)Ccg>Tcg		mastermind-like 1 (Drosophila)							41.0	42.0	42.0					5																	179193104		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193104C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1093C>T	5.37:g.179193104C>T	ENSP00000292599:p.Pro365Ser					MAML1_ENST00000503050.1_3'UTR	p.P365S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1356	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	365						Missense_Mutation	SNP	ENST00000292599.3	37	c.1093C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178747	0.38511	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.26660	1.72	5.01	4.14	0.48551	.	0.078821	0.53938	D	0.000052	T	0.22781	0.0550	L	0.42245	1.32	0.36732	D	0.88177	B;B	0.30634	0.274;0.288	B;B	0.31751	0.135;0.043	T	0.13072	-1.0523	10	0.22706	T	0.39	-9.1178	13.3304	0.60483	0.0:0.9229:0.0:0.0771	.	402;365	Q59GH4;Q92585	.;MAML1_HUMAN	S	365;402	ENSP00000292599:P365S	ENSP00000292599:P365S	P	+	1	0	MAML1	179125710	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.766000	0.26560	1.106000	0.41623	0.455000	0.32223	CCG		0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	62	0	0	0	1	0	4	62				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			643253							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	23	1	0	1	1	1	3	23				
DAAM2	23500	broad.mit.edu	37	6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:39864627G>A	ENST00000398904.2	+	20	2563	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R794H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	794	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2380-2382)cGt>cAt		dishevelled associated activator of morphogenesis 2							26.0	31.0	29.0					6																	39864627		2009	4168	6177	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864627G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2381G>A	6.37:g.39864627G>A	ENSP00000381876:p.Arg794His					DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000606829.1_RNA	p.R794H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2563	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		794			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2381G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069405	0.55539	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17213	2.29;2.29;2.29	4.79	3.9	0.45041	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.065703	0.56097	D	0.000023	T	0.08403	0.0209	L	0.58583	1.82	0.80722	D	1	P;P	0.47762	0.9;0.68	B;B	0.37346	0.247;0.189	T	0.04400	-1.0954	10	0.49607	T	0.09	.	9.6458	0.39865	0.1611:0.0:0.8389:0.0	.	794;794	G5EA45;Q86T65	.;DAAM2_HUMAN	H	794	ENSP00000274867:R794H;ENSP00000381876:R794H;ENSP00000437808:R794H	ENSP00000274867:R794H	R	+	2	0	DAAM2	39972605	0.999000	0.42202	0.969000	0.41365	0.971000	0.66376	3.252000	0.51461	2.492000	0.84095	0.561000	0.74099	CGT		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	22	0	0	0	1	0	6	22				
SLC24A4	123041	broad.mit.edu	37	14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(409-411)Gaa>Aaa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							93.0	84.0	87.0					14																	92908448		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92908448G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.409G>A	14.37:g.92908448G>A	ENSP00000431840:p.Glu137Lys					SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K	p.E137K			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	5	635	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	137					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.409G>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.071336|5.071336	0.93950|0.93950	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.72338|.	0.977;0.962;0.97|.	T|T	0.77913|0.77913	-0.2410|-0.2410	10|5	0.48119|.	T|.	0.1|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;73;137|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	K|Q	73;137;137;120;120;28;28|21	ENSP00000376948:E73K;ENSP00000433302:E137K;ENSP00000431840:E137K;ENSP00000298877:E120K;ENSP00000337789:E120K;ENSP00000452099:E28K|.	ENSP00000298877:E120K|.	E|R	+|+	1|2	0|0	SLC24A4|SLC24A4	91978201|91978201	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.586000|0.586000	0.36452|0.36452	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.557	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		15	50	0	0	0	1	0	15	50				
ZCCHC8	55596	broad.mit.edu	37	12	122983380	122983380	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:122983380C>T	ENST00000336229.4	-	2	366	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATACCTCGGTCGAGTCAGAAT	0.289																																						ENST00000336229.4																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(235-237)cGa>cAa		zinc finger, CCHC domain containing 8							123.0	110.0	114.0					12																	122983380		1804	4076	5880	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122983380C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.236G>A	12.37:g.122983380C>T	ENSP00000337313:p.Arg79Gln					ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	p.R79Q	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	2	366	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		79					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.236G>A		.	.	.	.	.	.	.	.	.	.	C	16.77	3.215133	0.58452	.	.	ENSG00000033030	ENST00000336229	T	0.16897	2.31	5.33	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.54323	1.7	0.43226	D	0.995116	B	0.32653	0.379	B	0.18561	0.022	T	0.02654	-1.1128	10	0.56958	D	0.05	-1.9914	15.5452	0.76093	0.1392:0.8608:0.0:0.0	.	79	Q6NZY4	ZCHC8_HUMAN	Q	79	ENSP00000337313:R79Q	ENSP00000337313:R79Q	R	-	2	0	ZCCHC8	121549333	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.696000	0.61774	1.348000	0.45733	0.585000	0.79938	CGA		0.289	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		8	47	0	0	0	1	0	8	47				
ITGA2	3673	broad.mit.edu	37	5	52360897	52360897	+	Silent	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:52360897A>G	ENST00000296585.5	+	14	1901	c.1758A>G	c.(1756-1758)gtA>gtG	p.V586V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	586					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGGAGCTGTATACATTTACA	0.393																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1756-1758)gtA>gtG		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							155.0	149.0	151.0					5																	52360897		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360897A>G		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1758A>G	5.37:g.52360897A>G							p.V586V	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1901	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	586					Q14595	Silent	SNP	ENST00000296585.5	37	c.1758A>G	CCDS3957.1																																																																																				0.393	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		6	160	0	0	0	1	0	6	160				
PKHD1L1	93035	broad.mit.edu	37	8	110457610	110457610	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110457610C>T	ENST00000378402.5	+	38	5616	c.5512C>T	c.(5512-5514)Cca>Tca	p.P1838S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1838	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTCTATCACCAACTTCTGG	0.493										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5512-5514)Cca>Tca		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							74.0	75.0	75.0					8																	110457610		1950	4135	6085	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457610C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5512C>T	8.37:g.110457610C>T	ENSP00000367655:p.Pro1838Ser	HNSCC(38;0.096)					p.P1838S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5616	+			1838			IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5512C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787896	0.70337	.	.	ENSG00000205038	ENST00000378402	D	0.94232	-3.38	6.03	6.03	0.97812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	H	0.95539	3.685	0.41782	D	0.989826	D	0.89917	1.0	D	0.87578	0.998	D	0.98005	1.0362	10	0.62326	D	0.03	.	12.9281	0.58272	0.1619:0.8381:0.0:0.0	.	1838	Q86WI1	PKHL1_HUMAN	S	1838	ENSP00000367655:P1838S	ENSP00000367655:P1838S	P	+	1	0	PKHD1L1	110526786	0.995000	0.38212	0.691000	0.30163	0.687000	0.40016	4.298000	0.59067	2.861000	0.98227	0.655000	0.94253	CCA		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		32	54	0	0	0	1	0	32	54				
LRRC52	440699	broad.mit.edu	37	1	165533034	165533034	+	Silent	SNP	G	G	A	rs151094083	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:165533034G>A	ENST00000294818.1	+	2	1205	c.915G>A	c.(913-915)tcG>tcA	p.S305S	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	305					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGACGAGCTCGGTCCAGGAGT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		16609	0.0		0.0	False		,,,				2504	0.002					ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(913-915)tcG>tcA		leucine rich repeat containing 52		G		0,4406		0,0,2203	54.0	62.0	59.0		915	-7.8	0.0	1	dbSNP_134	59	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	LRRC52	NM_001005214.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		305/314	165533034	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165533034G>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.915G>A	1.37:g.165533034G>A						RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	p.S305S	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			2	1205	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		305					A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.915G>A	CCDS30930.1																																																																																				0.567	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		29	56	0	0	0	1	0	29	56				
SORCS2	57537	broad.mit.edu	37	4	7728557	7728557	+	Silent	SNP	C	C	T	rs371704709		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:7728557C>T	ENST00000507866.2	+	21	2905	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	SORCS2_ENST00000329016.9_Silent_p.G760G	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	932					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CGGACACGGGCGACGTGCGTG	0.652																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2794-2796)ggC>ggT		sortilin-related VPS10 domain containing receptor 2							91.0	106.0	101.0					4																	7728557		2106	4194	6300	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728557C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2796C>T	4.37:g.7728557C>T						SORCS2_ENST00000329016.9_Silent_p.G760G	p.G932G	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			21	2905	+			932					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.2796C>T	CCDS47008.1																																																																																				0.652	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		57	91	0	0	0	1	0	57	91				
BZW2	28969	broad.mit.edu	37	7	16736663	16736663	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:16736663G>A	ENST00000433922.2	+	9	1124	c.946G>A	c.(946-948)Gag>Aag	p.E316K	BZW2_ENST00000405202.1_Missense_Mutation_p.E240K|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000407633.1_Missense_Mutation_p.E122K|BZW2_ENST00000258761.3_Missense_Mutation_p.E316K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	316	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACTTGTTGCAGAGCAGGCTCT	0.438																																						ENST00000433922.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(946-948)Gag>Aag		basic leucine zipper and W2 domains 2							94.0	90.0	91.0					7																	16736663		2203	4300	6503	SO:0001583	missense	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16736663G>A	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.946G>A	7.37:g.16736663G>A	ENSP00000397249:p.Glu316Lys					BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.E240K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.E316K|BZW2_ENST00000407633.1_Missense_Mutation_p.E122K	p.E316K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	9	1124	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		316			W2.		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.946G>A	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926376	0.73327	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.9	5.01	0.66863	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000001	D	0.86756	0.6009	L	0.53729	1.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	D	0.86138	0.1579	10	0.39692	T	0.17	-14.8218	16.4363	0.83877	0.0:0.0:0.8674:0.1326	.	316;316	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	K	316;316;316;240;122	ENSP00000403481:E316K;ENSP00000258761:E316K;ENSP00000397249:E316K;ENSP00000385577:E240K;ENSP00000384617:E122K	ENSP00000258761:E316K	E	+	1	0	BZW2	16703188	1.000000	0.71417	0.929000	0.37066	0.169000	0.22640	9.869000	0.99810	1.483000	0.48342	-0.309000	0.09137	GAG		0.438	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		22	53	0	0	0	1	0	22	53				
NXF3	56000	broad.mit.edu	37	X	102337168	102337168	+	Intron	SNP	G	G	C	rs200078852		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:102337168G>C	ENST00000395065.3	-	9	992				NXF3_ENST00000425463.2_Missense_Mutation_p.S213C|NXF3_ENST00000425644.1_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTGGTGACAGAGGGTACAAC	0.562																																						ENST00000425463.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(637-639)tCt>tGt		nuclear RNA export factor 3							304.0	208.0	241.0					X																	102337168		2203	4300	6503	SO:0001627	intron_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337168G>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.890+14C>G	X.37:g.102337168G>C						NXF3_ENST00000395065.3_Intron|NXF3_ENST00000425644.1_Intron	p.S213C			Q9H4D5	NXF3_HUMAN			8	941	-			305					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.638C>G	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814173	0.16537	.	.	ENSG00000147206	ENST00000425463	T	0.48201	0.82	3.4	1.6	0.23607	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.09310	N	1	B	0.29805	0.257	B	0.32393	0.145	T	0.34104	-0.9842	8	0.66056	D	0.02	.	3.5689	0.07910	0.1375:0.0:0.6167:0.2458	.	302	B4DYI1	.	C	213	ENSP00000404347:S213C	ENSP00000404347:S213C	S	-	2	0	NXF3	102223824	0.013000	0.17824	0.053000	0.19242	0.070000	0.16714	0.170000	0.16663	0.298000	0.22638	-0.191000	0.12829	TCT		0.562	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		56	115	0	0	0	1	0	56	115				
PLCL1	5334	broad.mit.edu	37	2	198950189	198950189	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:198950189G>T	ENST00000428675.1	+	2	2346	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D552Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	650	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGAGGATCGATTCCAGTAA	0.423																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1948-1950)Gat>Tat		phospholipase C-like 1	Quinacrine(DB01103)						40.0	43.0	42.0					2																	198950189		2203	4299	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950189G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1948G>T	2.37:g.198950189G>T	ENSP00000402861:p.Asp650Tyr					PLCL1_ENST00000437704.2_Missense_Mutation_p.D552Y	p.D650Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2346	+			650			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1948G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175862	0.57692	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.58652	0.32;0.32	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.169626	0.41294	D	0.000909	T	0.81973	0.4936	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85008	0.0904	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	650;576	Q15111;B4DYZ4	PLCL1_HUMAN;.	Y	650;552	ENSP00000402861:D650Y;ENSP00000414138:D552Y	.	D	+	1	0	PLCL1	198658434	1.000000	0.71417	0.955000	0.39395	0.925000	0.55904	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	GAT		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		29	56	1	0	2.4375e-19	1	2.60888e-19	29	56				
PTCHD3	374308	broad.mit.edu	37	10	27702454	27702454	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:27702454C>T	ENST00000438700.3	-	1	843	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	242					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTTTTCCCGCGCCACGCGCA	0.627																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(724-726)gcG>gcA		patched domain containing 3							39.0	41.0	40.0					10																	27702454		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702454C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.726G>A	10.37:g.27702454C>T							p.A242A	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	843	-			242					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.726G>A	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		20	37	0	0	0	1	0	20	37				
ARID5B	84159	broad.mit.edu	37	10	63829516	63829516	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:63829516A>G	ENST00000279873.7	+	8	1569	c.1159A>G	c.(1159-1161)Agc>Ggc	p.S387G	ARID5B_ENST00000309334.5_Missense_Mutation_p.S144G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	387	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TAATCCTGGGAGCACCAGCGC	0.408																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1159-1161)Agc>Ggc		AT rich interactive domain 5B (MRF1-like)							54.0	55.0	54.0					10																	63829516		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63829516A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1159A>G	10.37:g.63829516A>G	ENSP00000279873:p.Ser387Gly					ARID5B_ENST00000309334.5_Missense_Mutation_p.S144G	p.S387G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			8	1569	+	Prostate(12;0.016)|all_hematologic(501;0.215)		387			ARID.		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1159A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	31	5.102666	0.94245	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.64438	-0.1;-0.1	6.1	6.1	0.99115	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	M	0.86028	2.79	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79108	0.983;0.992	D	0.84554	0.0646	10	0.87932	D	0	-19.9559	16.686	0.85306	1.0:0.0:0.0:0.0	.	144;387	Q14865-2;Q14865	.;ARI5B_HUMAN	G	387;144	ENSP00000279873:S387G;ENSP00000308862:S144G	ENSP00000279873:S387G	S	+	1	0	ARID5B	63499522	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.791000	0.91849	2.340000	0.79590	0.528000	0.53228	AGC		0.408	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		18	26	0	0	0	1	0	18	26				
C12orf71	728858	broad.mit.edu	37	12	27235085	27235085	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:27235085C>T	ENST00000429849.2	-	1	362	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	111										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CAGGTTGTCTCCATTTAGAAG	0.413																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(331-333)gGa>gAa		chromosome 12 open reading frame 71							81.0	79.0	80.0					12																	27235085		1930	4147	6077	SO:0001583	missense	728858							g.chr12:27235085C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.332G>A	12.37:g.27235085C>T	ENSP00000413728:p.Gly111Glu						p.G111E	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	362	-			111						Missense_Mutation	SNP	ENST00000429849.2	37	c.332G>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430821	0.25726	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.42900	0.96	3.22	1.29	0.21616	.	1.828090	0.03883	U	0.277431	T	0.33411	0.0862	L	0.27053	0.805	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.23154	-1.0196	10	0.72032	D	0.01	-0.2887	4.7625	0.13115	0.0:0.6483:0.2206:0.131	.	111	A8MTZ7	CL071_HUMAN	E	111	ENSP00000413728:G111E	ENSP00000381796:G111E	G	-	2	0	C12orf71	27126352	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.035000	0.12205	0.182000	0.20032	-0.350000	0.07774	GGA		0.413	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		15	31	0	0	0	1	0	15	31				
ZNF766	90321	broad.mit.edu	37	19	52793356	52793356	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:52793356G>A	ENST00000439461.1	+	4	355	c.312G>A	c.(310-312)aaG>aaA	p.K104K	ZNF766_ENST00000593612.1_Silent_p.K119K|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.K119K	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGGAAACAAGCCTATTACAA	0.383																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(310-312)aaG>aaA		zinc finger protein 766							83.0	86.0	85.0					19																	52793356		2009	4218	6227	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793356G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.312G>A	19.37:g.52793356G>A						CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.K119K|ZNF766_ENST00000593612.1_Silent_p.K119K	p.K104K	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	355	+			104					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.312G>A	CCDS46163.1																																																																																				0.383	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		7	77	0	0	0	1	0	7	77				
WDTC1	23038	broad.mit.edu	37	1	27609881	27609881	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:27609881C>T	ENST00000319394.3	+	5	767	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	WDTC1_ENST00000361771.3_Missense_Mutation_p.H78Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	78					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGACCCGCTGCACCACAAGAA	0.542																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(232-234)Cac>Tac		WD and tetratricopeptide repeats 1							116.0	100.0	105.0					1																	27609881		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27609881C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.232C>T	1.37:g.27609881C>T	ENSP00000317971:p.His78Tyr					WDTC1_ENST00000361771.3_Missense_Mutation_p.H78Y	p.H78Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	5	767	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	78					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.232C>T		.	.	.	.	.	.	.	.	.	.	C	7.812	0.715861	0.15306	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.80994	-1.44;-1.44	5.35	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.344773	0.36815	N	0.002399	T	0.70727	0.3257	N	0.25485	0.75	0.42819	D	0.99398	B;B	0.27264	0.108;0.173	B;B	0.28709	0.007;0.093	T	0.67304	-0.5704	10	0.59425	D	0.04	.	13.3466	0.60578	0.2879:0.7121:0.0:0.0	.	78;78	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	Y	78	ENSP00000317971:H78Y;ENSP00000355317:H78Y	ENSP00000317971:H78Y	H	+	1	0	WDTC1	27482468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.979000	0.49313	0.583000	0.29574	-0.182000	0.12963	CAC		0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		30	82	0	0	0	1	0	30	82				
KNDC1	85442	broad.mit.edu	37	10	135025348	135025348	+	Missense_Mutation	SNP	G	G	A	rs201175312		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:135025348G>A	ENST00000304613.3	+	23	4243	c.4222G>A	c.(4222-4224)Ggc>Agc	p.G1408S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1410S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1408					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCAGAGGACGGCATCTCCAG	0.642																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4222-4224)Ggc>Agc		kinase non-catalytic C-lobe domain (KIND) containing 1			SER/GLY	0,4406		0,0,2203	44.0	40.0	42.0		4222	1.4	1.0	10		42	1,8597	1.2+/-3.3	0,1,4298	no	missense	KNDC1	NM_152643.6	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	1408/1750	135025348	1,13003	2203	4299	6502	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025348G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4222G>A	10.37:g.135025348G>A	ENSP00000304437:p.Gly1408Ser					KNDC1_ENST00000368572.2_Missense_Mutation_p.G1410S	p.G1408S			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	23	4243	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1408					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4222G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	7.581	0.668701	0.14776	0.0	1.16E-4	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12255	2.7;2.7	3.34	1.4	0.22301	Ras guanine nucleotide exchange factor, domain (1);	1.090190	0.07095	N	0.839449	T	0.07503	0.0189	N	0.24115	0.695	0.25257	N	0.989625	B	0.31077	0.307	B	0.15052	0.012	T	0.36237	-0.9756	10	0.25106	T	0.35	-13.6231	4.7291	0.12955	0.4066:0.0:0.5934:0.0	.	1408	Q76NI1	VKIND_HUMAN	S	1408;1410	ENSP00000304437:G1408S;ENSP00000357561:G1410S	ENSP00000304437:G1408S	G	+	1	0	KNDC1	134875338	0.030000	0.19436	0.985000	0.45067	0.442000	0.32017	0.212000	0.17497	0.702000	0.31825	0.282000	0.19409	GGC		0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		12	10	0	0	0	1	0	12	10				
HTR5A	3361	broad.mit.edu	37	7	154863177	154863177	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:154863177G>A	ENST00000287907.2	+	1	1144	c.568G>A	c.(568-570)Gag>Aag	p.E190K	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	190					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGAGGGCAGCGAGGAGTGCCA	0.612																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(568-570)Gag>Aag		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							82.0	65.0	71.0					7																	154863177		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863177G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.568G>A	7.37:g.154863177G>A	ENSP00000287907:p.Glu190Lys					AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	p.E190K	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1144	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	190					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.568G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	7.260	0.605081	0.14002	.	.	ENSG00000157219	ENST00000287907	T	0.37235	1.21	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.266110	0.43579	D	0.000543	T	0.21022	0.0506	N	0.11818	0.18	0.37958	D	0.932863	B	0.27068	0.167	B	0.22753	0.041	T	0.09465	-1.0673	10	0.08599	T	0.76	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	190	P47898	5HT5A_HUMAN	K	190	ENSP00000287907:E190K	ENSP00000287907:E190K	E	+	1	0	HTR5A	154494110	0.998000	0.40836	0.161000	0.22692	0.754000	0.42855	2.968000	0.49224	2.489000	0.83994	0.655000	0.94253	GAG		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		19	33	0	0	0	1	0	19	33				
NT5C1B	93034	broad.mit.edu	37	2	18765459	18765459	+	Silent	SNP	G	G	A	rs543116360		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:18765459G>A	ENST00000359846.2	-	6	1043	c.966C>T	c.(964-966)gaC>gaT	p.D322D	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D|NT5C1B_ENST00000304081.4_Silent_p.D262D|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	322					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCCTGCCGTCCACCATGT	0.557																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(784-786)gaC>gaT		5'-nucleotidase, cytosolic IB							166.0	158.0	161.0					2																	18765459		2203	4300	6503	SO:0001819	synonymous_variant	93034							g.chr2:18765459G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.966C>T	2.37:g.18765459G>A						NT5C1B_ENST00000359846.2_Silent_p.D322D|NT5C1B_ENST00000600945.1_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D	p.D262D	NM_033253.3	NP_150278.2					5	886	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.786C>T	CCDS33150.1																																																																																				0.557	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			79	173	0	0	0	1	0	79	173				
CIC	23152	broad.mit.edu	37	19	42791524	42791524	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:42791524C>T	ENST00000575354.2	+	4	545	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	CIC_ENST00000160740.3_Missense_Mutation_p.R169C|CIC_ENST00000572681.2_Missense_Mutation_p.R1078C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCGGAAAACGTCGGACCCA	0.602			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3232-3234)Cgt>Tgt		capicua transcriptional repressor							118.0	115.0	116.0					19																	42791524		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791524C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.505C>T	19.37:g.42791524C>T	ENSP00000458663:p.Arg169Cys					CIC_ENST00000575354.2_Missense_Mutation_p.R169C|CIC_ENST00000160740.3_Missense_Mutation_p.R169C	p.R1078C			Q96RK0	CIC_HUMAN			5	3300	+		Prostate(69;0.00682)	169			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3232C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054309	0.55218	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.64103	0.2568	L	0.27053	0.805	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.68777	-0.5319	8	0.87932	D	0	-9.1328	14.5137	0.67804	0.0:1.0:0.0:0.0	.	169	Q96RK0	CIC_HUMAN	C	169	.	ENSP00000160740:R169C	R	+	1	0	CIC	47483364	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.299000	0.43611	2.284000	0.76573	0.555000	0.69702	CGT		0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			35	83	0	0	0	1	0	35	83				
HCN4	10021	broad.mit.edu	37	15	73616161	73616161	+	Missense_Mutation	SNP	C	C	T	rs373284500		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:73616161C>T	ENST00000261917.3	-	8	3266	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	758					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCTGGACGCGGTGCGCGCA	0.642																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2272-2274)cGc>cAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4		C	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	42.0	49.0	47.0		2273	2.4	1.0	15		47	0,8594		0,0,4297	no	missense	HCN4	NM_005477.2	29	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	758/1204	73616161	1,12989	2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616161C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2273G>A	15.37:g.73616161C>T	ENSP00000261917:p.Arg758His						p.R758H	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3266	-			758					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2273G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	6.663	0.490894	0.12702	2.27E-4	0.0	ENSG00000138622	ENST00000261917	T	0.45276	0.9	3.45	2.41	0.29592	.	.	.	.	.	T	0.24967	0.0606	N	0.19112	0.55	0.27730	N	0.944827	B	0.09022	0.002	B	0.04013	0.001	T	0.09975	-1.0650	9	0.42905	T	0.14	.	5.3638	0.16103	0.0:0.7207:0.0:0.2793	.	758	Q9Y3Q4	HCN4_HUMAN	H	758	ENSP00000261917:R758H	ENSP00000261917:R758H	R	-	2	0	HCN4	71403214	0.978000	0.34361	0.963000	0.40424	0.275000	0.26752	2.293000	0.43558	1.756000	0.51951	0.305000	0.20034	CGC		0.642	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		24	42	0	0	0	1	0	24	42				
CLDN17	26285	broad.mit.edu	37	21	31538710	31538710	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr21:31538710C>A	ENST00000286808.3	-	1	261	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	76					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTTTCCAGGGCAGGCGGGAGA	0.572																																						ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(226-228)Gcc>Tcc		claudin 17							70.0	77.0	75.0					21																	31538710		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538710C>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.226G>T	21.37:g.31538710C>A	ENSP00000286808:p.Ala76Ser						p.A76S	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	261	-			76					Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.226G>T	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377032	0.24857	.	.	ENSG00000156282	ENST00000286808	D	0.89939	-2.59	5.22	4.33	0.51752	.	0.515169	0.20701	N	0.087267	T	0.82195	0.4984	N	0.21282	0.65	0.09310	N	1	B	0.26809	0.16	B	0.36766	0.232	T	0.73369	-0.4004	10	0.54805	T	0.06	.	6.0517	0.19789	0.1421:0.646:0.1372:0.0747	.	76	P56750	CLD17_HUMAN	S	76	ENSP00000286808:A76S	ENSP00000286808:A76S	A	-	1	0	CLDN17	30460581	0.001000	0.12720	0.005000	0.12908	0.150000	0.21749	1.569000	0.36428	1.553000	0.49476	0.655000	0.94253	GCC		0.572	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		22	57	1	0	6.32553e-13	1	6.61525e-13	22	57				
RC3H1	149041	broad.mit.edu	37	1	173951938	173951938	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:173951938G>A	ENST00000367696.2	-	5	1046	c.695C>T	c.(694-696)cCa>cTa	p.P232L	RC3H1_ENST00000258349.4_Missense_Mutation_p.P232L|RC3H1_ENST00000367694.2_Missense_Mutation_p.P232L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	232	ROQ.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGAAACCGTGGCTCCAATCT	0.433																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(694-696)cCa>cTa		ring finger and CCCH-type domains 1							105.0	104.0	104.0					1																	173951938		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173951938G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.695C>T	1.37:g.173951938G>A	ENSP00000356669:p.Pro232Leu					RC3H1_ENST00000258349.4_Missense_Mutation_p.P232L|RC3H1_ENST00000367694.2_Missense_Mutation_p.P232L	p.P232L			Q5TC82	RC3H1_HUMAN			5	1046	-			232					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.695C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361496	0.95877	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.00455	7.31;7.31;7.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.01287	0.0042	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	0.983;0.983;0.99;1.0	P;P;P;D	0.78314	0.798;0.798;0.901;0.991	T	0.69778	-0.5053	10	0.87932	D	0	-12.4095	19.9855	0.97347	0.0:0.0:1.0:0.0	.	232;232;232;232	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	232	ENSP00000356669:P232L;ENSP00000258349:P232L;ENSP00000356667:P232L	ENSP00000258349:P232L	P	-	2	0	RC3H1	172218561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	CCA		0.433	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		67	97	0	0	0	1	0	67	97				
NF2	4771	broad.mit.edu	37	22	30051610	30051610	+	Nonsense_Mutation	SNP	G	G	T	rs74315495		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:30051610G>T	ENST00000338641.4	+	6	985	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	NF2_ENST00000353887.4_Nonsense_Mutation_p.E99*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E182*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E182*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E182*|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.E182*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E99*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E141*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E140*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	182	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GATGACTCCGGAAATGTGGGA	0.393			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CM941100	NF2	M	rs74315495	c.(544-546)Gaa>Taa		neurofibromin 2 (merlin)							99.0	102.0	101.0					22																	30051610		2203	4300	6503	SO:0001587	stop_gained	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30051610G>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.544G>T	22.37:g.30051610G>T	ENSP00000344666:p.Glu182*					NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Nonsense_Mutation_p.E182*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E140*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E182*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E182*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E182*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E99*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E99*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E141*|NF2_ENST00000413209.2_Intron	p.E182*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			6	985	+			182			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.544G>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	40	8.277197	0.98740	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1851	0.93641	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;141;182;182;99;99;182;140;182	.	.	E	+	1	0	NF2	28381610	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.669000	0.83911	2.520000	0.84964	0.555000	0.69702	GAA		0.393	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		19	24	1	0	1.90627e-21	1	2.05637e-21	19	24				
COL6A3	1293	broad.mit.edu	37	2	238244924	238244924	+	Missense_Mutation	SNP	G	G	A	rs200626456	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:238244924G>A	ENST00000295550.4	-	40	9271	c.8819C>T	c.(8818-8820)aCg>aTg	p.T2940M	COL6A3_ENST00000409809.1_Missense_Mutation_p.T2734M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2739M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2734M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2740M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2333M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2940	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTCGCTGCCGTTGCTGGCTT	0.637													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17237	0.001		0.0	False		,,,				2504	0.0					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8818-8820)aCg>aTg		collagen, type VI, alpha 3							44.0	53.0	50.0					2																	238244924		2201	4300	6501	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238244924G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8819C>T	2.37:g.238244924G>A	ENSP00000295550:p.Thr2940Met					COL6A3_ENST00000409809.1_Missense_Mutation_p.T2734M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2734M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2739M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2740M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2333M	p.T2940M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9271	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2940			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8819C>T	CCDS33412.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	3.287	-0.145693	0.06627	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88509	-2.39;-2.38;-2.36;-2.36;-2.36;-2.35	3.61	0.812	0.18744	.	1.885410	0.03548	N	0.224997	T	0.77718	0.4172	N	0.08118	0	0.09310	N	1	B;B;B	0.31859	0.066;0.109;0.343	B;B;B	0.29176	0.029;0.063;0.099	T	0.68187	-0.5475	10	0.48119	T	0.1	.	6.0833	0.19952	0.3402:0.0:0.6598:0.0	.	2333;2734;2940	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	2940;2739;2734;2333;2734;2740	ENSP00000295550:T2940M;ENSP00000315609:T2739M;ENSP00000315873:T2734M;ENSP00000418285:T2333M;ENSP00000386844:T2734M;ENSP00000295546:T2740M	ENSP00000295550:T2940M	T	-	2	0	COL6A3	237909663	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.851000	0.01669	-0.035000	0.13691	-1.692000	0.00727	ACG		0.637	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		49	106	0	0	0	1	0	49	106				
HTR1B	3351	broad.mit.edu	37	6	78172427	78172427	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:78172427A>C	ENST00000369947.2	-	1	1063	c.694T>G	c.(694-696)Tac>Gac	p.Y232D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	232					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCTTCTACGTAGATGCGGCCA	0.607																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(694-696)Tac>Gac		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						54.0	58.0	57.0					6																	78172427		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172427A>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.694T>G	6.37:g.78172427A>C	ENSP00000358963:p.Tyr232Asp						p.Y232D	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1063	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	232					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.694T>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421880	0.62622	.	.	ENSG00000135312	ENST00000369947	T	0.38722	1.12	5.24	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77416	-0.2596	9	.	.	.	.	10.1817	0.42972	0.9219:0.0:0.0781:0.0	.	232	P28222	5HT1B_HUMAN	D	232	ENSP00000358963:Y232D	.	Y	-	1	0	HTR1B	78229146	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	8.995000	0.93534	1.008000	0.39264	0.454000	0.30748	TAC		0.607	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		12	53	0	0	0	1	0	12	53				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	531	0	0	0	1	0	5	531				
CDH9	1007	broad.mit.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2209-2211)aCg>aTg		cadherin 9, type 2 (T1-cadherin)							144.0	135.0	138.0					5																	26881405		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881405G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2210C>T	5.37:g.26881405G>A	ENSP00000231021:p.Thr737Met						p.T737M	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2382	-			737					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2210C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514444	0.64522	.	.	ENSG00000113100	ENST00000231021	T	0.78595	-1.19	5.36	5.36	0.76844	Cadherin, cytoplasmic domain (1);	0.044682	0.85682	D	0.000000	D	0.91277	0.7250	M	0.94063	3.49	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.93378	0.6741	9	.	.	.	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	330;737	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	737	ENSP00000231021:T737M	.	T	-	2	0	CDH9	26917162	1.000000	0.71417	0.379000	0.26080	0.687000	0.40016	9.835000	0.99442	2.504000	0.84457	0.557000	0.71058	ACG		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		51	102	0	0	0	1	0	51	102				
DNAJC14	85406	broad.mit.edu	37	12	56221370	56221370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:56221370C>T	ENST00000357606.3	-	3	1362	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W358*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W358*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	358					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTATCCCTCCAGCCTAACCG	0.572																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1072-1074)tGg>tAg		DnaJ (Hsp40) homolog, subfamily C, member 14							68.0	68.0	68.0					12																	56221370		2203	4300	6503	SO:0001587	stop_gained	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221370C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1073G>A	12.37:g.56221370C>T	ENSP00000350223:p.Trp358*					DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W358*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W358*	p.W358*			Q6Y2X3	DJC14_HUMAN			3	1362	-			358					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	c.1073G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	39	7.449377	0.98292	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.	.	.	5.34	4.39	0.52855	.	0.239145	0.31772	N	0.007089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6689	13.5327	0.61631	0.0:0.8425:0.1575:0.0	.	.	.	.	X	358;358;68;358	.	.	W	-	2	0	DNAJC14	54507637	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.255000	0.51484	2.666000	0.90696	0.561000	0.74099	TGG		0.572	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		30	66	0	0	0	1	0	30	66				
BTK	695	broad.mit.edu	37	X	100630195	100630195	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:100630195C>T	ENST00000308731.7	-	2	241	c.78G>A	c.(76-78)aaG>aaA	p.K26K	BTK_ENST00000372880.1_Silent_p.K26K|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	26	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAGGCGCTTCTTGAAGTTTA	0.428									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(76-78)aaG>aaA		Bruton agammaglobulinemia tyrosine kinase							200.0	174.0	183.0					X																	100630195		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630195C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.78G>A	X.37:g.100630195C>T						BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.K26K	p.K26K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	241	-			26			PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.78G>A	CCDS14482.1																																																																																				0.428	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		96	196	0	0	0	1	0	96	196				
C2CD5	9847	broad.mit.edu	37	12	22606916	22606916	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:22606916C>T	ENST00000333957.4	-	24	3040	c.2785G>A	c.(2785-2787)Gct>Act	p.A929T	C2CD5_ENST00000536386.1_Missense_Mutation_p.A982T|C2CD5_ENST00000544930.1_Missense_Mutation_p.A785T|C2CD5_ENST00000446597.1_Missense_Mutation_p.A980T|C2CD5_ENST00000545552.1_Missense_Mutation_p.A983T|C2CD5_ENST00000542676.1_Missense_Mutation_p.A980T|C2CD5_ENST00000396028.2_Missense_Mutation_p.A971T	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	929					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GCAACATGAGCTCTCACCATT	0.388																																						ENST00000333957.4																			0											c.(2785-2787)Gct>Act		C2 calcium-dependent domain containing 5							137.0	122.0	127.0					12																	22606916		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22606916C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2785G>A	12.37:g.22606916C>T	ENSP00000334229:p.Ala929Thr					C2CD5_ENST00000446597.1_Missense_Mutation_p.A980T|C2CD5_ENST00000542676.1_Missense_Mutation_p.A980T|C2CD5_ENST00000536386.1_Missense_Mutation_p.A982T|C2CD5_ENST00000545552.1_Missense_Mutation_p.A983T|C2CD5_ENST00000544930.1_Missense_Mutation_p.A785T|C2CD5_ENST00000396028.2_Missense_Mutation_p.A971T	p.A929T	NM_014802.1	NP_055617.1					24	3040	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2785G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014118	0.93404	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T	0.78364	-1.17;-1.13;-1.14;-1.11;-1.13;-1.09	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.996	D	0.89813	0.3983	10	0.87932	D	0	-18.0821	19.218	0.93785	0.0:1.0:0.0:0.0	.	982;980;785;971;929	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	T	929;980;982;971;980;983;785	ENSP00000334229:A929T;ENSP00000388756:A980T;ENSP00000439392:A982T;ENSP00000379345:A971T;ENSP00000441951:A980T;ENSP00000443204:A983T	ENSP00000334229:A929T	A	-	1	0	KIAA0528	22498183	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.493000	0.81493	2.533000	0.85409	0.561000	0.74099	GCT		0.388	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		34	77	0	0	0	1	0	34	77				
NDST4	64579	broad.mit.edu	37	4	115891608	115891608	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:115891608A>C	ENST00000264363.2	-	4	1877	c.1199T>G	c.(1198-1200)aTt>aGt	p.I400S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	400	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTGTTGAGAATCATCTGCTC	0.423																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1198-1200)aTt>aGt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							125.0	113.0	117.0					4																	115891608		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891608A>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1199T>G	4.37:g.115891608A>C	ENSP00000264363:p.Ile400Ser						p.I400S	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1877	-		Ovarian(17;0.156)	400			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1199T>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	9.155	1.017194	0.19355	.	.	ENSG00000138653	ENST00000264363	T	0.34859	1.34	5.49	5.49	0.81192	.	0.098253	0.64402	D	0.000001	T	0.33818	0.0876	L	0.55834	1.745	0.52099	D	0.999941	B	0.16396	0.017	B	0.19666	0.026	T	0.16808	-1.0390	10	0.09338	T	0.73	.	15.871	0.79119	1.0:0.0:0.0:0.0	.	400	Q9H3R1	NDST4_HUMAN	S	400	ENSP00000264363:I400S	ENSP00000264363:I400S	I	-	2	0	NDST4	116111057	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.070000	0.64376	2.205000	0.71048	0.482000	0.46254	ATT		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	56	0	0	0	1	0	15	56				
OR2A2	442361	broad.mit.edu	37	7	143807039	143807039	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:143807039T>C	ENST00000408979.2	+	1	433	c.364T>C	c.(364-366)Tat>Cat	p.Y122H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTATGATAGGTATGTGGCCAT	0.473																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(364-366)Tat>Cat		olfactory receptor, family 2, subfamily A, member 2							186.0	173.0	177.0					7																	143807039		2107	4263	6370	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807039T>C		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.364T>C	7.37:g.143807039T>C	ENSP00000386209:p.Tyr122His						p.Y122H	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	433	+	Melanoma(164;0.0783)		122					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.364T>C	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493173	0.26774	.	.	ENSG00000221989	ENST00000408979	T	0.57273	0.41	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.597987	0.12654	U	0.450208	T	0.62270	0.2414	M	0.91459	3.21	0.23101	N	0.998298	B	0.27450	0.179	B	0.30316	0.114	T	0.61148	-0.7121	10	0.87932	D	0	-6.5284	10.4392	0.44455	0.0:0.0:0.0:1.0	.	122	Q6IF42	OR2A2_HUMAN	H	122	ENSP00000386209:Y122H	ENSP00000386209:Y122H	Y	+	1	0	OR2A2	143437972	0.324000	0.24652	0.102000	0.21198	0.503000	0.33858	2.450000	0.44943	1.632000	0.50472	0.496000	0.49642	TAT		0.473	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			56	129	0	0	0	1	0	56	129				
PREX1	57580	broad.mit.edu	37	20	47266579	47266579	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr20:47266579G>A	ENST00000371941.3	-	24	3005	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C	PREX1_ENST00000396220.1_Missense_Mutation_p.R995C	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	995					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTCCAAAGCGGATGCTGAAG	0.547																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2983-2985)Cgc>Tgc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							93.0	91.0	91.0					20																	47266579		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266579G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2983C>T	20.37:g.47266579G>A	ENSP00000361009:p.Arg995Cys					PREX1_ENST00000371941.3_Missense_Mutation_p.R995C	p.R995C			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	3005	-			995					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2983C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568576	0.86439	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.60040	0.22;0.22	5.71	4.77	0.60923	.	0.000000	0.52532	U	0.000070	T	0.72342	0.3448	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.75659	-0.3241	10	0.87932	D	0	.	14.6705	0.68939	0.0693:0.0:0.9307:0.0	.	995;292	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	995	ENSP00000361009:R995C;ENSP00000379522:R995C	ENSP00000361009:R995C	R	-	1	0	PREX1	46699986	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.410000	0.97335	1.437000	0.47472	-0.136000	0.14681	CGC		0.547	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		92	57	0	0	0	1	0	92	57				
EPOR	2057	broad.mit.edu	37	19	11489042	11489042	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:11489042C>T	ENST00000222139.6	-	8	1249	c.1145G>A	c.(1144-1146)aGt>aAt	p.S382N	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	382					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GAGGTCCTCACTGGGCGGGTT	0.612											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1144-1146)aGt>aAt		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						56.0	54.0	55.0					19																	11489042		2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489042C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1145G>A	19.37:g.11489042C>T	ENSP00000222139:p.Ser382Asn		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.S382N	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN			8	1249	-			382					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.1145G>A	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	C	3.423	-0.117816	0.06838	.	.	ENSG00000187266	ENST00000222139	T	0.47177	0.85	4.51	2.18	0.27775	.	1.090990	0.06843	N	0.796065	T	0.39937	0.1097	L	0.50919	1.6	0.09310	N	1	P	0.34462	0.454	B	0.29785	0.107	T	0.21348	-1.0248	10	0.18710	T	0.47	-30.8487	10.3081	0.43693	0.0:0.576:0.424:0.0	.	382	P19235	EPOR_HUMAN	N	382	ENSP00000222139:S382N	ENSP00000222139:S382N	S	-	2	0	EPOR	11350042	0.000000	0.05858	0.002000	0.10522	0.108000	0.19459	0.421000	0.21280	1.078000	0.41014	0.650000	0.86243	AGT		0.612	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			46	17	0	0	0	1	0	46	17				
HOXA1	3198	broad.mit.edu	37	7	27134302	27134302	+	Silent	SNP	C	C	T	rs138651027	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:27134302C>T	ENST00000343060.4	-	2	826	c.765G>A	c.(763-765)acG>acA	p.T255T	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	255					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCGGGCGCGCGTCAGGTACT	0.562													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(763-765)acG>acA		homeobox A1		C	,	7,4399	12.9+/-30.5	0,7,2196	117.0	103.0	108.0		765,	-6.1	0.1	7	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,utr-3	HOXA1	NM_005522.4,NM_153620.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	255/336,	27134302	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134302C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.765G>A	7.37:g.27134302C>T						HOXA1_ENST00000355633.5_3'UTR	p.T255T	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			2	826	-			255					A4D184|B2R8U7|O43363	Silent	SNP	ENST00000343060.4	37	c.765G>A	CCDS5401.1																																																																																				0.562	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			44	70	0	0	0	1	0	44	70				
DCLRE1C	64421	broad.mit.edu	37	10	14951049	14951049	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:14951049C>T	ENST00000378278.2	-	14	1474	c.1437G>A	c.(1435-1437)ctG>ctA	p.L479L	DCLRE1C_ENST00000396817.2_Silent_p.L359L|DCLRE1C_ENST00000378242.1_Silent_p.L132L|DCLRE1C_ENST00000453695.2_Silent_p.L359L|DCLRE1C_ENST00000378254.1_Silent_p.L359L|DCLRE1C_ENST00000378246.2_Silent_p.L364L|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378258.1_Silent_p.L359L|DCLRE1C_ENST00000357717.2_Silent_p.L364L|DCLRE1C_ENST00000378249.1_Silent_p.L364L|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378255.1_Silent_p.L359L			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	479					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CAGCCTTTTGCAGGTGAAGTA	0.433								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1075-1077)ctG>ctA	Non-homologous end-joining	DNA cross-link repair 1C							89.0	79.0	82.0					10																	14951049		2203	4300	6503	SO:0001819	synonymous_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14951049C>T	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1437G>A	10.37:g.14951049C>T						DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378278.2_Silent_p.L479L|DCLRE1C_ENST00000378255.1_Silent_p.L359L|DCLRE1C_ENST00000378254.1_Silent_p.L359L|DCLRE1C_ENST00000378246.2_Silent_p.L364L|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Silent_p.L132L|DCLRE1C_ENST00000378258.1_Silent_p.L359L|DCLRE1C_ENST00000396817.2_Silent_p.L359L|DCLRE1C_ENST00000357717.2_Silent_p.L364L|DCLRE1C_ENST00000378249.1_Silent_p.L364L	p.L359L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1521	-			479					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	c.1077G>A	CCDS31149.1																																																																																				0.433	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		5	166	0	0	0	1	0	5	166				
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	rs541998637		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCTCTGCCCGTCGCTGTCCT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.0					ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2824-2826)Gtc>Atc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						219.0	192.0	201.0					15																	99472828		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99472828G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2824G>A	15.37:g.99472828G>A	ENSP00000268035:p.Val942Ile					IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	p.V942I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		14	3435	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		942					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2824G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	IGF1R	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC		0.443	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		13	141	0	0	0	1	0	13	141				
CLASRP	11129	broad.mit.edu	37	19	45573294	45573294	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:45573294G>A	ENST00000221455.3	+	19	1987	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	CLASRP_ENST00000391953.4_Missense_Mutation_p.R568Q|CLASRP_ENST00000544944.2_Missense_Mutation_p.R611Q	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	630	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CGGGAACGCCGAGAGAAGGAG	0.637																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1831-1833)cGa>cAa		CLK4-associating serine/arginine rich protein							73.0	78.0	76.0					19																	45573294		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45573294G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1889G>A	19.37:g.45573294G>A	ENSP00000221455:p.Arg630Gln					CLASRP_ENST00000221455.3_Missense_Mutation_p.R630Q|CLASRP_ENST00000391953.4_Missense_Mutation_p.R568Q	p.R611Q			Q8N2M8	CLASR_HUMAN			17	2524	+			630			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.1832G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612814	0.87258	.	.	ENSG00000104859	ENST00000221455;ENST00000391953;ENST00000544944	T;T;T	0.53857	1.17;0.6;1.31	5.95	5.95	0.96441	.	0.000000	0.31257	U	0.007965	T	0.70979	0.3286	M	0.65498	2.005	0.35898	D	0.830157	D;D;D	0.71674	0.998;0.997;0.994	D;D;P	0.75484	0.986;0.947;0.885	T	0.77424	-0.2593	10	0.72032	D	0.01	-0.8695	15.879	0.79189	0.0:0.0:1.0:0.0	.	568;611;630	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	Q	630;568;611	ENSP00000221455:R630Q;ENSP00000375815:R568Q;ENSP00000438702:R611Q	ENSP00000221455:R630Q	R	+	2	0	CLASRP	50265134	0.998000	0.40836	0.391000	0.26233	0.974000	0.67602	8.046000	0.89438	2.826000	0.97356	0.563000	0.77884	CGA		0.637	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		35	77	0	0	0	1	0	35	77				
HDAC10	83933	broad.mit.edu	37	22	50686413	50686413	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:50686413C>T	ENST00000216271.5	-	13	1595	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	HDAC10_ENST00000448072.1_Missense_Mutation_p.A365T|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A395T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	415					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTTGTCAGGGCAACAGCGGTG	0.652																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1243-1245)Gcc>Acc		histone deacetylase 10							41.0	39.0	40.0					22																	50686413		2203	4300	6503	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50686413C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1243G>A	22.37:g.50686413C>T	ENSP00000216271:p.Ala415Thr					MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A395T|HDAC10_ENST00000448072.1_Missense_Mutation_p.A365T	p.A415T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	1595	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	415					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1243G>A	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539501	0.45176	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.30182	1.54;1.54;1.54	4.17	3.13	0.36017	.	4.464340	0.00678	N	0.000679	T	0.33789	0.0875	M	0.72479	2.2	0.26757	N	0.970084	B;B;B;B;B	0.34290	0.447;0.319;0.319;0.447;0.319	B;B;B;B;B	0.29077	0.098;0.045;0.09;0.098;0.045	T	0.34976	-0.9807	10	0.14656	T	0.56	-2.4701	9.4173	0.38530	0.2123:0.7877:0.0:0.0	.	395;405;365;415;415	Q969S8-2;E2QRD2;C9J8B8;Q969S8-4;Q969S8	.;.;.;.;HDA10_HUMAN	T	415;365;395	ENSP00000216271:A415T;ENSP00000397542:A365T;ENSP00000343540:A395T	ENSP00000216271:A415T	A	-	1	0	HDAC10	49028540	0.018000	0.18449	0.310000	0.25168	0.019000	0.09904	1.142000	0.31540	1.071000	0.40834	0.467000	0.42956	GCC		0.652	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		18	15	0	0	0	1	0	18	15				
MUC6	4588	broad.mit.edu	37	11	1018011	1018011	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:1018011T>G	ENST00000421673.2	-	31	4840	c.4790A>C	c.(4789-4791)aAg>aCg	p.K1597T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1597	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTGGTCTTGAAGGATGT	0.567																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4789-4791)aAg>aCg		mucin 6, oligomeric mucus/gel-forming							331.0	321.0	325.0					11																	1018011		2161	4254	6415	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018011T>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4790A>C	11.37:g.1018011T>G	ENSP00000406861:p.Lys1597Thr						p.K1597T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4840	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1597			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4790A>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	3.961	-0.010233	0.07727	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.39	1.22	0.21188	.	.	.	.	.	T	0.17577	0.0422	L	0.53249	1.67	0.09310	N	1	P	0.44090	0.826	B	0.43018	0.405	T	0.12451	-1.0547	9	0.23891	T	0.37	.	1.9294	0.03324	0.2621:0.2034:0.0:0.5344	.	1597	Q6W4X9	MUC6_HUMAN	T	1597	ENSP00000406861:K1597T	ENSP00000406861:K1597T	K	-	2	0	MUC6	1008011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	0.162000	0.19483	0.247000	0.18012	AAG		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	542	0	0	0	1	0	14	542				
INO80	54617	broad.mit.edu	37	15	41272545	41272545	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:41272545G>A	ENST00000361937.3	-	36	4971	c.4547C>T	c.(4546-4548)tCc>tTc	p.S1516F	INO80_ENST00000401393.3_Missense_Mutation_p.S1516F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCAAAGGGGAACTCAAAGG	0.562																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4546-4548)tCc>tTc		INO80 complex subunit							82.0	82.0	82.0					15																	41272545		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41272545G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4547C>T	15.37:g.41272545G>A	ENSP00000355205:p.Ser1516Phe					INO80_ENST00000401393.3_Missense_Mutation_p.S1516F	p.S1516F			Q9ULG1	INO80_HUMAN			36	4971	-			1516			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.4547C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005930	0.74932	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.4	5.4	0.78164	.	0.075774	0.56097	D	0.000032	D	0.90978	0.7163	N	0.14661	0.345	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.92511	0.6016	10	0.72032	D	0.01	.	18.3525	0.90343	0.0:0.0:1.0:0.0	.	1516	Q9ULG1	INO80_HUMAN	F	1516	ENSP00000355205:S1516F;ENSP00000384686:S1516F	ENSP00000355205:S1516F	S	-	2	0	INO80	39059837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.106000	0.77039	2.814000	0.96858	0.655000	0.94253	TCC		0.562	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		29	48	0	0	0	1	0	29	48				
CACNA1F	778	broad.mit.edu	37	X	49087678	49087678	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:49087678C>T	ENST00000376265.2	-	3	428	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A123T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A58T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	123					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGTGGTTGGCAGTGTTGGAG	0.622																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(367-369)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						76.0	57.0	64.0					X																	49087678		2110	4150	6260	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49087678C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.367G>A	X.37:g.49087678C>T	ENSP00000365441:p.Ala123Thr					CACNA1F_ENST00000323022.5_Missense_Mutation_p.A123T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A58T	p.A123T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			3	428	-			123					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.367G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	2.093	-0.408027	0.04832	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97352	-4.35;-4.35;-4.35	5.02	5.02	0.67125	.	0.360305	0.31123	N	0.008205	D	0.90082	0.6902	N	0.04655	-0.195	0.33695	D	0.613765	B;B	0.16603	0.018;0.01	B;B	0.12156	0.007;0.003	D	0.85471	0.1173	10	0.05525	T	0.97	.	16.2817	0.82692	0.0:1.0:0.0:0.0	.	123;123	F5CIQ9;O60840	.;CAC1F_HUMAN	T	58;123;123	ENSP00000365427:A58T;ENSP00000321618:A123T;ENSP00000365441:A123T	ENSP00000321618:A123T	A	-	1	0	CACNA1F	48974622	0.926000	0.31397	1.000000	0.80357	0.471000	0.32888	1.760000	0.38430	2.098000	0.63641	0.292000	0.19580	GCC		0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		4	2	0	0	0	1	0	4	2				
MST1L	11223	broad.mit.edu	37	1	17083808	17083808	+	RNA	SNP	G	G	A	rs140260478	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:17083808G>A	ENST00000455405.2	-	0	780							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGACCTTGTGCATACTCGGT	0.562													.|||	293	0.0585064	0.0802	0.0648	5008	,	,		26767	0.0357		0.0477	False		,,,				2504	0.0593					ENST00000455405.2																			0																																																			11223							g.chr1:17083808G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083808G>A														0	780	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.562	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	28	0	0	0	1	0	4	28				
SLC7A3	84889	broad.mit.edu	37	X	70145793	70145793	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:70145793C>T	ENST00000374299.3	-	12	1874	c.1730G>A	c.(1729-1731)gGc>gAc	p.G577D	SLC7A3_ENST00000298085.4_Splice_Site_p.G577D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	577					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATAGCAAAGCCTAGTGGGGA	0.498																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.e12-1		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						136.0	115.0	122.0					X																	70145793		2203	4300	6503	SO:0001630	splice_region_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70145793C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1730-1G>A	X.37:g.70145793C>T						SLC7A3_ENST00000298085.4_Splice_Site_p.G577_splice	p.G577_splice			Q8WY07	CTR3_HUMAN			12	1874	-	Renal(35;0.156)		577					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Splice_Site	SNP	ENST00000374299.3	37	c.1729_splice	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431242	0.96150	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.94457	-3.43;-3.43	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99601	1.0978	10	0.87932	D	0	.	15.9061	0.79430	0.0:1.0:0.0:0.0	.	577	Q8WY07	CTR3_HUMAN	D	577	ENSP00000363417:G577D;ENSP00000298085:G577D	ENSP00000298085:G577D	G	-	2	0	SLC7A3	70062518	1.000000	0.71417	0.589000	0.28718	0.723000	0.41478	6.695000	0.74593	2.297000	0.77311	0.436000	0.28706	GGC		0.498	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	Missense_Mutation	24	75	0	0	0	1	0	24	75				
LTB4R2	56413	broad.mit.edu	37	14	24780174	24780174	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:24780174G>A	ENST00000528054.1	+	1	2014	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	CIDEB_ENST00000336557.5_5'UTR|LTB4R_ENST00000345363.3_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A102T|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A102T			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	133					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTACGTGTGCGCGCTCAGCAT	0.726																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(397-399)Gcg>Acg		leukotriene B4 receptor 2							18.0	18.0	18.0					14																	24780174		1961	3904	5865	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780174G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.397G>A	14.37:g.24780174G>A	ENSP00000432146:p.Ala133Thr					LTB4R2_ENST00000533293.1_Missense_Mutation_p.A102T|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A102T|CIDEB_ENST00000555817.1_5'UTR	p.A133T			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2014	+			133					Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	g	14.56	2.571659	0.45798	.	.	ENSG00000213906	ENST00000527924;ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.09	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.774862	0.11313	U	0.576936	T	0.53932	0.1827	L	0.31420	0.93	0.27260	N	0.958643	B	0.20988	0.05	B	0.13407	0.009	T	0.39563	-0.9608	10	0.21014	T	0.42	.	6.3888	0.21576	0.0892:0.0:0.5769:0.3339	.	133	Q9NPC1	LT4R2_HUMAN	T	102;133;102;102;102	ENSP00000436668:A102T;ENSP00000432146:A133T;ENSP00000433290:A102T;ENSP00000445772:A102T;ENSP00000434760:A102T	ENSP00000337731:A133T	A	+	1	0	LTB4R2	23850014	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.090000	0.11163	1.109000	0.41680	0.556000	0.70494	GCG		0.726	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			8	40	0	0	0	1	0	8	40				
ZFR	51663	broad.mit.edu	37	5	32387756	32387756	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:32387756G>C	ENST00000265069.8	-	14	2500	c.2398C>G	c.(2398-2400)Ctc>Gtc	p.L800V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	800	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTCCTCGGAGAAGTAATCCT	0.383																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2398-2400)Ctc>Gtc		zinc finger RNA binding protein							96.0	95.0	96.0					5																	32387756		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32387756G>C	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2398C>G	5.37:g.32387756G>C	ENSP00000265069:p.Leu800Val						p.L800V	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	14	2500	-			800			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2398C>G	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365013	0.41902	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.51071	0.72	5.71	5.71	0.89125	DZF (2);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.82132	2.575	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.75091	-0.3440	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	800	Q96KR1	ZFR_HUMAN	V	800;778	ENSP00000265069:L800V	ENSP00000265069:L800V	L	-	1	0	ZFR	32423513	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.564000	0.82326	2.687000	0.91594	0.655000	0.94253	CTC		0.383	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			37	75	0	0	0	1	0	37	75				
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:46393971T>G	ENST00000322217.5	-	3	1196	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657																																						ENST00000322217.5																			1	Insertion - Frameshift(1)	p.A371fs*>30(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(1108-1110)ccA>ccC		Myb-related transcription factor, partner of profilin							6.0	8.0	8.0					19																	46393971		2078	4151	6229	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46393971T>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1110A>C	19.37:g.46393971T>G							p.P370P	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			3	1196	-			370			Pro-rich.			Silent	SNP	ENST00000322217.5	37	c.1110A>C	CCDS33055.1																																																																																				0.657	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		5	9	0	0	0	1	0	5	9				
PEAR1	375033	broad.mit.edu	37	1	156873743	156873745	+	In_Frame_Del	DEL	CTT	CTT	-	rs373675759		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:156873743_156873745delCTT	ENST00000338302.3	+	3	250_252	c.25_27delCTT	c.(25-27)cttdel	p.L11del	PEAR1_ENST00000292357.7_In_Frame_Del_p.L11del			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	11					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.L9F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTCCCCTCCTTCTCCTGGCTG	0.64																																						ENST00000338302.3																			1	Substitution - Missense(1)	p.L9F(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(25-27)del		platelet endothelial aggregation receptor 1																																				SO:0001651	inframe_deletion	375033					integral to membrane		g.chr1:156873743_156873745delCTT	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.25_27delCTT	1.37:g.156873743_156873745delCTT	ENSP00000344465:p.Leu11del					PEAR1_ENST00000292357.7_In_Frame_Del_p.L11del	p.L11del			Q5VY43	PEAR1_HUMAN			3	250_252	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		11					Q8TEK2	In_Frame_Del	DEL	ENST00000338302.3	37	c.25_27delCTT	CCDS30892.1																																																																																				0.640	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		54	104						54	104	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464471	202464471	+	Silent	SNP	G	G	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:202464471G>C	ENST00000608999.1	+	16	2349	c.2196G>C	c.(2194-2196)acG>acC	p.T732T	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Silent_p.T732T|PPP1R12B_ENST00000391959.3_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	732					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AACCCACCACGCCAGCATCTC	0.463																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2194-2196)acG>acC		protein phosphatase 1, regulatory subunit 12B							133.0	130.0	131.0					1																	202464471		2203	4300	6503	SO:0001819	synonymous_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202464471G>C	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2196G>C	1.37:g.202464471G>C						PPP1R12B_ENST00000336894.4_Silent_p.T732T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000367270.4_5'UTR	p.T732T	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		16	2349	+			732					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	37	c.2196G>C	CCDS1426.1																																																																																				0.463	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		21	43	0	0	0	1	0	21	43				
AC011747.6	0	broad.mit.edu	37	2	8743629	8743629	+	lincRNA	DEL	A	A	-	rs372086781		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:8743629delA	ENST00000425678.1	-	0	439																											TGTTTGTACTAAAAAAAAAAA	0.289																																						ENST00000425678.1																			0																																																			0							g.chr2:8743629delA																													2.37:g.8743629delA														0	439	-									RNA	DEL	ENST00000425678.1	37																																																																																						0.289	AC011747.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323325.1			2	4						2	4	---	---	---	---
LOC101927156	101927156	broad.mit.edu	37	2	182030521	182030521	+	lincRNA	DEL	A	A	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:182030521delA	ENST00000435411.1	+	0	144																											gaggaggaagaagaggaagag	0.458																																						ENST00000435411.1																			0																																																			101927156							g.chr2:182030521delA																													2.37:g.182030521delA														0	144	+									RNA	DEL	ENST00000435411.1	37																																																																																						0.458	AC104820.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334384.2			2	4						2	4	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179305757	179305759	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:179305757_179305759delGAA	ENST00000429709.2	+	14	1462_1464	c.1249_1251delGAA	c.(1249-1251)gaadel	p.E418del	ACTL6A_ENST00000450518.2_In_Frame_Del_p.E376del|ACTL6A_ENST00000392662.1_In_Frame_Del_p.E376del	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	418					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.E417*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAAGAATATGAAGAAGGAGGGA	0.36																																						ENST00000429709.2																			1	Substitution - Nonsense(1)	p.E417*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(1249-1251)del		actin-like 6A																																				SO:0001651	inframe_deletion	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179305757_179305759delGAA	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1249_1251delGAA	3.37:g.179305760_179305762delGAA	ENSP00000397552:p.Glu418del					ACTL6A_ENST00000392662.1_In_Frame_Del_p.E376del|ACTL6A_ENST00000450518.2_In_Frame_Del_p.E376del	p.E418del	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		14	1462_1464	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		418					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	In_Frame_Del	DEL	ENST00000429709.2	37	c.1249_1251delGAA	CCDS3231.1																																																																																				0.360	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		13	69						13	69	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141335643	141335656	+	Frame_Shift_Del	DEL	TGGGCACCAGCAGG	TGGGCACCAGCAGG	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:141335643_141335656delTGGGCACCAGCAGG	ENST00000231484.3	-	1	2971_2984	c.1761_1774delCCTGCTGGTGCCCA	c.(1759-1776)cacctgctggtgcccatcfs	p.LLVPI588fs	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	588					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCTCGATGGGCACCAGCAGGTGGCCTGTGG	0.593																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1759-1776)catcfs		protocadherin 12																																				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335643_141335656delTGGGCACCAGCAGG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1761_1774delCCTGCTGGTGCCCA	5.37:g.141335643_141335656delTGGGCACCAGCAGG	ENSP00000231484:p.Leu588fs						p.HLLVPI587fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2971_2984	-		all_hematologic(541;0.0999)	587					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Del	DEL	ENST00000231484.3	37	c.1761_1774delCCTGCTGGTGCCCA	CCDS4269.1																																																																																				0.593	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		23	68						23	68	---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000359203.3_5'UTR|RRAGD_ENST00000492783.1_5'Flank	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(64-69)gat>ga		Ras-related GTP binding D				97,9,3788		4,0,89,2,5,1847						0.6	1.0			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				SO:0001651	inframe_deletion	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90121645_90121647delTCC	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del					RRAGD_ENST00000359203.2_5'UTR	p.ED22del	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	1	342_344	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	22						In_Frame_Del	DEL	ENST00000369415.4	37	c.66_68delGGA	CCDS5022.1																																																																																				0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		2	4						2	4	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:132445250_132445251insG	ENST00000333577.4	+	2	195_196	c.86_87insG	c.(85-90)ccggccfs	p.A30fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.A30fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.A30fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.A30fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.A30fs			Q96L91	EP400_HUMAN	E1A binding protein p400	30					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGAGCAGCCGGCCCACCCCA	0.653																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(85-87)cgcfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445250_132445251insG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.88dupG	12.37:g.132445252_132445252dupG	ENSP00000333602:p.Ala30fs					EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs	p.R29fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	195_196	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	29					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.86_87insG																																																																																					0.653	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		2	4						2	4	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					ENST00000330915.3																			2	Deletion - In frame(2)	p.D489_S492delDGDS(2)	large_intestine(1)|breast(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1465-1479)gag>ga		KN motif and ankyrin repeat domains 3				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			5	1532_1543	-			489					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	3						3	3	---	---	---	---
ZNF580	51157	broad.mit.edu	37	19	56154293	56154293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:56154293delC	ENST00000543039.1	+	1	876	c.419delC	c.(418-420)gccfs	p.A140fs	ZNF580_ENST00000325333.5_Frame_Shift_Del_p.A140fs|ZNF581_ENST00000587252.1_Intron|ZNF581_ENST00000588537.1_5'Flank|ZNF581_ENST00000270451.5_5'Flank|ZNF580_ENST00000545125.1_Frame_Shift_Del_p.A140fs	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	140					cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCATCGCGCCACGCAccgc	0.741																																						ENST00000543039.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(418-420)gcfs		zinc finger protein 580							3.0	3.0	3.0					19																	56154293		1883	3780	5663	SO:0001589	frameshift_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56154293delC	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"""Zinc fingers, C2H2-type"""	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.419delC	19.37:g.56154293delC	ENSP00000443957:p.Ala140fs					ZNF580_ENST00000545125.1_Frame_Shift_Del_p.A140fs|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Frame_Shift_Del_p.A140fs	p.A140fs	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	876	+			140					B2RC05|Q9NPP7	Frame_Shift_Del	DEL	ENST00000543039.1	37	c.419delC	CCDS12931.1																																																																																				0.741	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		2	4						2	4	---	---	---	---
