#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
CPT2	1376	broad.mit.edu	37	1	53676457	53676457	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:53676457G>A	ENST00000371486.3	+	4	1626	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	371					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCCACTTTGAGCACTCTTG	0.498																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1111-1113)Gag>Aag		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						53.0	49.0	50.0					1																	53676457		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676457G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1111G>A	1.37:g.53676457G>A	ENSP00000360541:p.Glu371Lys					RP5-1024G6.2_ENST00000452466.1_RNA	p.E371K	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1626	+			371					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1111G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697571	0.88830	.	.	ENSG00000157184	ENST00000371486	D	0.95482	-3.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99312	1.0904	10	0.87932	D	0	-24.8905	19.8968	0.96969	0.0:0.0:1.0:0.0	.	371	P23786	CPT2_HUMAN	K	371	ENSP00000360541:E371K	ENSP00000360541:E371K	E	+	1	0	CPT2	53449045	1.000000	0.71417	0.991000	0.47740	0.622000	0.37654	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	GAG		0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		14	27	0	0	0	1	0	14	27				
HSPA6	3310	broad.mit.edu	37	1	161495032	161495032	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161495032G>A	ENST00000309758.4	+	1	997	c.584G>A	c.(583-585)cGc>cAc	p.R195H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	195					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGGGAGAGCGCAACGTGCTC	0.627																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(583-585)cGc>cAc		heat shock 70kDa protein 6 (HSP70B')							37.0	42.0	40.0					1																	161495032		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495032G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.584G>A	1.37:g.161495032G>A	ENSP00000310219:p.Arg195His						p.R195H	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	997	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		195					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.584G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.716255	0.30413	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.19	2.27	0.28462	.	0.391181	0.17146	U	0.185252	T	0.00695	0.0023	M	0.64404	1.975	0.46927	D	0.999252	B	0.12013	0.005	B	0.15052	0.012	T	0.44143	-0.9347	10	0.87932	D	0	-4.4185	7.9186	0.29833	0.1291:0.0:0.8709:0.0	.	195	P17066	HSP76_HUMAN	H	195;171	ENSP00000310219:R195H	ENSP00000310219:R195H	R	+	2	0	HSPA6	159761656	0.620000	0.27068	0.274000	0.24659	0.503000	0.33858	0.662000	0.25038	0.525000	0.28522	0.486000	0.48141	CGC		0.627	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		15	55	0	0	0	1	0	15	55				
TMOD1	7111	broad.mit.edu	37	9	100308588	100308588	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:100308588G>A	ENST00000259365.4	+	3	455	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	TMOD1_ENST00000395211.2_Missense_Mutation_p.R81Q	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	81	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTTAAGGACCGAGAAGATCTG	0.502																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(241-243)cGa>cAa		tropomodulin 1							99.0	102.0	101.0					9																	100308588		2203	4300	6503	SO:0001583	missense	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100308588G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.242G>A	9.37:g.100308588G>A	ENSP00000259365:p.Arg81Gln					TMOD1_ENST00000259365.3_Missense_Mutation_p.R81Q	p.R81Q	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	3	378	+		Acute lymphoblastic leukemia(62;0.154)	81			Tropomyosin-binding (Potential).		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	c.242G>A	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047006	0.75846	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	T;T	0.36157	1.27;1.27	5.17	5.17	0.71159	.	0.076955	0.51477	D	0.000096	T	0.45518	0.1346	L	0.54323	1.7	0.41843	D	0.990136	P	0.50156	0.932	P	0.54026	0.74	T	0.34875	-0.9811	10	0.46703	T	0.11	-4.1025	11.1646	0.48535	0.0853:0.0:0.9147:0.0	.	81	P28289	TMOD1_HUMAN	Q	81	ENSP00000378637:R81Q;ENSP00000259365:R81Q	ENSP00000259365:R81Q	R	+	2	0	TMOD1	99348409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.414000	0.52693	2.578000	0.87016	0.655000	0.94253	CGA		0.502	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		11	126	0	0	0	1	0	11	126				
SOWAHB	345079	broad.mit.edu	37	4	77817474	77817474	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:77817474G>A	ENST00000334306.2	-	1	1528	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	510																	CTCCTCATCAGAGGAGGACAA	0.592																																						ENST00000334306.2																			0											c.(1528-1530)tCt>tTt		sosondowah ankyrin repeat domain family member B							36.0	41.0	39.0					4																	77817474		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817474G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1529C>T	4.37:g.77817474G>A	ENSP00000334879:p.Ser510Phe						p.S510F	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1528	-			510					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1529C>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702238	0.48307	.	.	ENSG00000186212	ENST00000334306	T	0.11385	2.78	5.04	5.04	0.67666	.	0.300014	0.23577	U	0.046694	T	0.22936	0.0554	L	0.29908	0.895	0.36131	D	0.84612	D	0.89917	1.0	D	0.70716	0.97	T	0.07947	-1.0746	10	0.72032	D	0.01	-9.6287	17.3298	0.87259	0.0:0.0:1.0:0.0	.	510	A6NEL2	ANR56_HUMAN	F	510	ENSP00000334879:S510F	ENSP00000334879:S510F	S	-	2	0	ANKRD56	78036498	0.998000	0.40836	0.977000	0.42913	0.197000	0.23852	3.022000	0.49659	2.606000	0.88127	0.650000	0.86243	TCT		0.592	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		23	39	0	0	0	1	0	23	39				
B4GALT3	8703	broad.mit.edu	37	1	161142103	161142103	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161142103C>A	ENST00000319769.5	-	7	1044	c.822G>T	c.(820-822)atG>atT	p.M274I	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M274I|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	274					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GAGAGATCTTCATCCCAGCCA	0.488																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(820-822)atG>atT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						74.0	69.0	71.0					1																	161142103		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161142103C>A	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.822G>T	1.37:g.161142103C>A	ENSP00000320965:p.Met274Ile					PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M274I|PPOX_ENST00000535223.1_Intron	p.M274I	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1044	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		274					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.822G>T	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726914	0.69074	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.33216	1.42;1.42	5.15	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.57536	1.79	0.58432	D	0.999997	P	0.51351	0.944	P	0.60068	0.868	T	0.27123	-1.0083	10	0.72032	D	0.01	-7.6146	12.6206	0.56601	0.0:0.9191:0.0:0.0808	.	274	O60512	B4GT3_HUMAN	I	274;251;274;274	ENSP00000320965:M274I;ENSP00000356977:M274I	ENSP00000320965:M274I	M	-	3	0	B4GALT3	159408727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	1.408000	0.46895	0.563000	0.77884	ATG		0.488	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		14	33	1	0	7.93312e-07	1	8.0821e-07	14	33				
CCDC129	223075	broad.mit.edu	37	7	31682734	31682734	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:31682734G>C	ENST00000407970.3	+	11	1788	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	CCDC129_ENST00000409210.1_Missense_Mutation_p.E492Q|CCDC129_ENST00000319386.3_Missense_Mutation_p.E436Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.E610Q	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	584										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGTGAGGCCTGAGGGAGCTGG	0.493																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1306-1308)Gag>Cag		coiled-coil domain containing 129							158.0	161.0	160.0					7																	31682734		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682734G>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1750G>C	7.37:g.31682734G>C	ENSP00000384416:p.Glu584Gln					CCDC129_ENST00000407970.3_Missense_Mutation_p.E584Q|CCDC129_ENST00000409210.1_Missense_Mutation_p.E492Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.E610Q	p.E436Q			Q6ZRS4	CC129_HUMAN			11	2299	+			584					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1306G>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458755	0.26248	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20463	2.07;2.34;2.33;2.07	5.71	1.84	0.25277	.	0.799483	0.11206	N	0.588178	T	0.32406	0.0828	L	0.56769	1.78	0.09310	N	1	P;D;D;P	0.69078	0.639;0.997;0.997;0.454	B;D;D;B	0.63283	0.155;0.913;0.913;0.131	T	0.13899	-1.0492	10	0.33141	T	0.24	-16.4444	3.741	0.08530	0.2755:0.0:0.5528:0.1717	.	610;594;584;436	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Q	436;584;610;594;492	ENSP00000313062:E436Q;ENSP00000384416:E584Q;ENSP00000395835:E610Q;ENSP00000387214:E492Q	ENSP00000313062:E436Q	E	+	1	0	CCDC129	31649259	0.009000	0.17119	0.000000	0.03702	0.041000	0.13682	0.247000	0.18179	0.061000	0.16311	0.591000	0.81541	GAG		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		7	166	0	0	0	1	0	7	166				
ZNF273	10793	broad.mit.edu	37	7	64389280	64389280	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:64389280G>A	ENST00000476120.1	+	4	1645	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	ZNF273_ENST00000319636.5_Missense_Mutation_p.R460Q|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	525					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(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTTAACCGGTCCTCAAAC	0.388																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1573-1575)cGg>cAg		zinc finger protein 273							61.0	67.0	65.0					7																	64389280		2203	4300	6503	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64389280G>A	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1574G>A	7.37:g.64389280G>A	ENSP00000418719:p.Arg525Gln					ZNF273_ENST00000319636.5_Missense_Mutation_p.R460Q|ZNF273_ENST00000527278.1_3'UTR	p.R525Q	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1645	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	525					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.1574G>A	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	1.310	-0.602428	0.03744	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.35973	1.28;1.28	1.16	-0.262	0.12958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11793	0.0287	N	0.04275	-0.24	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.33240	-0.9876	9	0.02654	T	1	.	4.4047	0.11404	0.3696:0.0:0.6304:0.0	.	525	Q14593	ZN273_HUMAN	Q	525;460	ENSP00000418719:R525Q;ENSP00000324518:R460Q	ENSP00000324518:R460Q	R	+	2	0	ZNF273	64026715	0.000000	0.05858	0.765000	0.31456	0.765000	0.43378	-1.784000	0.01769	0.202000	0.20498	0.205000	0.17691	CGG		0.388	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			4	91	0	0	0	1	0	4	91				
DMD	1756	broad.mit.edu	37	X	31227742	31227742	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:31227742C>T	ENST00000357033.4	-	65	9642	c.9436G>A	c.(9436-9438)Gat>Aat	p.D3146N	DMD_ENST00000378702.4_Missense_Mutation_p.D78N|DMD_ENST00000378677.2_Missense_Mutation_p.D3142N|DMD_ENST00000378680.2_Missense_Mutation_p.D78N|DMD_ENST00000343523.2_Missense_Mutation_p.D686N|DMD_ENST00000474231.1_Missense_Mutation_p.D686N|DMD_ENST00000378707.3_Missense_Mutation_p.D686N|DMD_ENST00000541735.1_Missense_Mutation_p.D686N|DMD_ENST00000361471.4_Missense_Mutation_p.D78N|DMD_ENST00000359836.1_Missense_Mutation_p.D686N|DMD_ENST00000378723.3_Missense_Mutation_p.D78N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3146	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCAGGATATCCATGGGCTGG	0.443																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9436-9438)Gat>Aat		dystrophin							131.0	106.0	114.0					X																	31227742		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31227742C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9436G>A	X.37:g.31227742C>T	ENSP00000354923:p.Asp3146Asn					DMD_ENST00000378723.3_Missense_Mutation_p.D78N|DMD_ENST00000378677.2_Missense_Mutation_p.D3142N|DMD_ENST00000541735.1_Missense_Mutation_p.D686N|DMD_ENST00000361471.4_Missense_Mutation_p.D78N|DMD_ENST00000474231.1_Missense_Mutation_p.D686N|DMD_ENST00000378702.4_Missense_Mutation_p.D78N|DMD_ENST00000359836.1_Missense_Mutation_p.D686N|DMD_ENST00000378707.3_Missense_Mutation_p.D686N|DMD_ENST00000378680.2_Missense_Mutation_p.D78N|DMD_ENST00000343523.2_Missense_Mutation_p.D686N	p.D3146N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			65	9642	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3146			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9436G>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.198471|5.198471	0.94997|0.94997	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.67345|.	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26|.	5.04|5.04	5.04|5.04	0.67666|0.67666	EF-hand domain, type 1 (1);|.	0.000000|.	0.38164|.	U|.	0.001792|.	T|T	0.61813|0.61813	0.2377|0.2377	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;B;D;D;D;D;P;B;B;D;D;B;D;B;B;D|.	0.89917|.	0.994;0.121;1.0;1.0;1.0;1.0;0.487;0.222;0.222;0.999;0.999;0.374;0.997;0.01;0.011;0.998|.	D;B;D;D;D;D;B;B;B;D;D;B;D;B;B;D|.	0.87578|.	0.979;0.086;0.998;0.998;0.998;0.998;0.313;0.111;0.111;0.998;0.996;0.139;0.983;0.016;0.039;0.995|.	T|T	0.57717|0.57717	-0.7763|-0.7763	10|5	0.40728|.	T|.	0.16|.	.|.	17.8157|17.8157	0.88632|0.88632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;3138;3146;3142;1805;1802;686;686;686;686;686;3023;78;78;78;78|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	N|E	3138;1805;1802;78;842;3142;3146;686;686;3146;3023;686;686;78;686;78;78|874	ENSP00000367997:D78N;ENSP00000350765:D842N;ENSP00000367948:D3142N;ENSP00000354923:D3146N;ENSP00000352894:D686N;ENSP00000340057:D686N;ENSP00000367979:D686N;ENSP00000444119:D686N;ENSP00000367974:D78N;ENSP00000417123:D686N;ENSP00000354464:D78N;ENSP00000367951:D78N|.	ENSP00000340057:D686N|.	D|G	-|-	1|2	0|0	DMD|DMD	31137663|31137663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.609000|7.609000	0.82925|0.82925	2.483000|2.483000	0.83821|0.83821	0.600000|0.600000	0.82982|0.82982	GAT|GGA		0.443	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	41	0	0	0	1	0	20	41				
OR10A5	144124	broad.mit.edu	37	11	6867629	6867629	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:6867629T>C	ENST00000299454.4	+	1	747	c.716T>C	c.(715-717)tTc>tCc	p.F239S	OR10A5_ENST00000379831.2_Missense_Mutation_p.F243S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	239					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATAAAGCCTTCTCTACGTGC	0.458																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(715-717)tTc>tCc		olfactory receptor, family 10, subfamily A, member 5							275.0	236.0	249.0					11																	6867629		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867629T>C	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.716T>C	11.37:g.6867629T>C	ENSP00000299454:p.Phe239Ser					OR10A5_ENST00000379831.2_Missense_Mutation_p.F243S	p.F239S			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	747	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	239					O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.716T>C	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	16.96	3.265738	0.59540	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00304	8.19;8.19	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.01189	0.0039	H	0.98594	4.275	0.41166	D	0.986138	D	0.89917	1.0	D	0.97110	1.0	T	0.13361	-1.0512	10	0.87932	D	0	.	10.7772	0.46356	0.0:0.0:0.0:1.0	.	239	Q9H207	O10A5_HUMAN	S	239;243	ENSP00000299454:F239S;ENSP00000369159:F243S	ENSP00000299454:F239S	F	+	2	0	OR10A5	6824205	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	5.763000	0.68818	1.839000	0.53478	0.482000	0.46254	TTC		0.458	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		8	172	0	0	0	1	0	8	172				
PLA2G4B	100137049	broad.mit.edu	37	15	42139713	42139713	+	Missense_Mutation	SNP	C	C	T	rs200877600		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:42139713C>T	ENST00000452633.1	+	20	2478	c.2126C>T	c.(2125-2127)tCg>tTg	p.S709L	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S940L|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S940L|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S709L|JMJD7-PLA2G4B_ENST00000342159.4_Intron			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	709	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGGGAGTACTCGGCCCCTGGT	0.667																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2818-2820)tCg>tTg									50.0	55.0	53.0					15																	42139713		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139713C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2126C>T	15.37:g.42139713C>T	ENSP00000396045:p.Ser709Leu					JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S709L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S709L	p.S940L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			24	2828	+			709					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.2819C>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.834161	0.32421	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.04234	3.67;3.67;3.67	4.87	3.95	0.45737	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.334157	0.22950	N	0.053672	T	0.11067	0.0270	.	.	.	0.22693	N	0.998842	D;D	0.89917	1.0;0.998	D;P	0.69479	0.964;0.838	T	0.17806	-1.0357	9	0.29301	T	0.29	-10.2812	4.4026	0.11393	0.1563:0.6061:0.1517:0.0858	.	709;940	P0C869;P0C869-6	PA24B_HUMAN;.	L	940;709;709	ENSP00000371886:S940L;ENSP00000416610:S709L;ENSP00000396045:S709L	ENSP00000371886:S940L	S	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39927005	0.167000	0.22975	0.154000	0.22540	0.039000	0.13416	0.626000	0.24492	1.212000	0.43366	-0.215000	0.12644	TCG		0.667	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		29	84	0	0	0	1	0	29	84				
SREBF1	6720	broad.mit.edu	37	17	17722964	17722964	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:17722964G>T	ENST00000261646.5	-	3	783	c.599C>A	c.(598-600)tCc>tAc	p.S200Y	SREBF1_ENST00000435530.2_Missense_Mutation_p.S200Y|SREBF1_ENST00000355815.4_Missense_Mutation_p.S230Y|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000338854.5_Missense_Mutation_p.S200Y	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	200					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGTGTGCAAGGAGACGGGCGG	0.662																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(688-690)tCc>tAc		sterol regulatory element binding transcription factor 1							23.0	30.0	28.0					17																	17722964		2201	4297	6498	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722964G>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.599C>A	17.37:g.17722964G>T	ENSP00000261646:p.Ser200Tyr					SREBF1_ENST00000338854.5_Missense_Mutation_p.S200Y|SREBF1_ENST00000435530.2_Missense_Mutation_p.S200Y|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.S200Y	p.S230Y	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			4	858	-			200					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.689C>A	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285638	0.40394	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000423161;ENST00000435530	T;T;T;T	0.77750	0.57;0.58;0.58;-1.12	3.76	3.76	0.43208	.	1.464310	0.04245	N	0.337565	T	0.78117	0.4233	L	0.44542	1.39	0.37575	D	0.919585	P;P;P;D	0.54207	0.94;0.94;0.894;0.965	P;P;B;P	0.51355	0.462;0.462;0.367;0.667	T	0.69427	-0.5148	10	0.06099	T	0.92	-18.6068	13.5137	0.61528	0.0:0.0:1.0:0.0	.	200;176;200;230	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	Y	200;230;200;126;200	ENSP00000345822:S200Y;ENSP00000348069:S230Y;ENSP00000261646:S200Y;ENSP00000413389:S200Y	ENSP00000261646:S200Y	S	-	2	0	SREBF1	17663689	1.000000	0.71417	0.959000	0.39883	0.966000	0.64601	7.702000	0.84576	2.098000	0.63641	0.555000	0.69702	TCC		0.662	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		8	26	1	0	0.000274275	1	0.000274275	8	26				
PCDHB8	56128	broad.mit.edu	37	5	140558805	140558805	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140558805C>T	ENST00000239444.2	+	1	1435	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCTTCTGTGGGGAAC	0.463																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1189-1191)tCt>tTt									107.0	145.0	132.0					5																	140558805		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558805C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1190C>T	5.37:g.140558805C>T	ENSP00000239444:p.Ser397Phe						p.S397F	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1435	+			397			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1190C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240891	0.22711	.	.	ENSG00000120322	ENST00000239444	T	0.03607	3.87	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26484	0.0647	M	0.94063	3.49	0.09310	N	1	P	0.52463	0.953	D	0.67900	0.954	T	0.15578	-1.0432	9	0.87932	D	0	.	16.2711	0.82622	0.0:1.0:0.0:0.0	.	397	Q9UN66	PCDB8_HUMAN	F	397	ENSP00000239444:S397F	ENSP00000239444:S397F	S	+	2	0	PCDHB8	140538989	0.004000	0.15560	0.010000	0.14722	0.016000	0.09150	2.110000	0.41873	1.911000	0.55334	0.585000	0.79938	TCT		0.463	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		6	145	0	0	0	1	0	6	145				
KIAA1217	56243	broad.mit.edu	37	10	24832954	24832954	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:24832954C>T	ENST00000376454.3	+	19	4785	c.4755C>T	c.(4753-4755)ctC>ctT	p.L1585L	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Silent_p.L1268L|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1585					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						TCGCCGCTCTCACTCAAGCCA	0.468																																						ENST00000376451.2																			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.(3802-3804)ctC>ctT		KIAA1217							88.0	93.0	91.0					10																	24832954		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832954C>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.4755C>T	10.37:g.24832954C>T						KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.L1585L|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron	p.L1268L			Q5T5P2	SKT_HUMAN			14	4064	+			1585					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.3804C>T	CCDS31165.1																																																																																				0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		59	87	0	0	0	1	0	59	87				
USP7	7874	broad.mit.edu	37	16	9009317	9009317	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:9009317G>T	ENST00000344836.4	-	9	1170	c.972C>A	c.(970-972)ttC>ttA	p.F324L	USP7_ENST00000535863.1_Missense_Mutation_p.F225L|USP7_ENST00000381886.4_Missense_Mutation_p.F308L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	324	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTTGCCGCGGAATAATTTGG	0.338																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(970-972)ttC>ttA		ubiquitin specific peptidase 7 (herpes virus-associated)							105.0	102.0	103.0					16																	9009317		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9009317G>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.972C>A	16.37:g.9009317G>T	ENSP00000343535:p.Phe324Leu					USP7_ENST00000381886.4_Missense_Mutation_p.F308L|USP7_ENST00000535863.1_Missense_Mutation_p.F225L	p.F324L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			9	1170	-			324					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.972C>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489650	0.64074	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.41758	0.99;0.99;0.99	5.49	3.51	0.40186	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.66439	2.03	0.80722	D	1	P;P	0.42203	0.65;0.773	B;B	0.43360	0.417;0.417	T	0.47636	-0.9102	10	0.59425	D	0.04	.	10.0829	0.42401	0.2153:0.0:0.7847:0.0	.	324;308	Q93009;B7Z815	UBP7_HUMAN;.	L	324;332;225;225;266	ENSP00000343535:F324L;ENSP00000443646:F225L;ENSP00000439272:F266L	ENSP00000343535:F324L	F	-	3	2	USP7	8916818	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.313000	0.43735	1.456000	0.47831	0.655000	0.94253	TTC		0.338	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			14	35	1	0	6.72482e-11	1	7.0158e-11	14	35				
MAST2	23139	broad.mit.edu	37	1	46496348	46496348	+	Silent	SNP	C	C	T	rs12757963		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:46496348C>T	ENST00000361297.2	+	22	2906	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L	MAST2_ENST00000372009.2_Silent_p.L805L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCGCAGCCTGAGTGAGGA	0.647																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2623-2625)Ctg>Ttg		microtubule associated serine/threonine kinase 2							19.0	23.0	22.0					1																	46496348		2040	4191	6231	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46496348C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2623C>T	1.37:g.46496348C>T						MAST2_ENST00000372008.1_Silent_p.L760L|MAST2_ENST00000372009.2_Silent_p.L805L	p.L875L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			22	2906	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		875						Silent	SNP	ENST00000361297.2	37	c.2623C>T	CCDS41326.1																																																																																				0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		5	12	0	0	0	1	0	5	12				
NUCB1	4924	broad.mit.edu	37	19	49404064	49404064	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:49404064C>T	ENST00000405315.4	+	2	345	c.11C>T	c.(10-12)tCt>tTt	p.S4F	TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000407032.1_Missense_Mutation_p.S4F|NUCB1_ENST00000263273.5_Missense_Mutation_p.S4F|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	4						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCCTCCCTCTGGGCCCCGA	0.652																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(10-12)tCt>tTt		nucleobindin 1							69.0	53.0	58.0					19																	49404064		2203	4299	6502	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49404064C>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.11C>T	19.37:g.49404064C>T	ENSP00000385923:p.Ser4Phe					NUCB1_ENST00000263273.5_Missense_Mutation_p.S4F|NUCB1_ENST00000407032.1_Missense_Mutation_p.S4F|NUCB1_ENST00000485798.1_Intron	p.S4F	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	2	345	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	4					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.11C>T	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	C	8.738	0.918188	0.17982	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	T;T;T	0.19394	2.15;2.15;2.15	4.08	0.614	0.17603	.	1.345930	0.05087	N	0.484632	T	0.17066	0.0410	L	0.40543	1.245	0.09310	N	1	B;B	0.32693	0.119;0.38	B;B	0.31751	0.047;0.135	T	0.32824	-0.9892	10	0.87932	D	0	.	2.7877	0.05378	0.1867:0.5295:0.1811:0.1028	.	4;4	Q02818;Q53GX6	NUCB1_HUMAN;.	F	4	ENSP00000385923:S4F;ENSP00000385211:S4F;ENSP00000263273:S4F	ENSP00000263273:S4F	S	+	2	0	NUCB1	54095876	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	0.197000	0.17197	0.244000	0.21351	0.549000	0.68633	TCT		0.652	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		6	65	0	0	0	1	0	6	65				
FNIP1	96459	broad.mit.edu	37	5	130987593	130987593	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:130987593C>T	ENST00000510461.1	-	16	3303	c.3208G>A	c.(3208-3210)Gat>Aat	p.D1070N	FNIP1_ENST00000307954.8_Missense_Mutation_p.D1025N|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.D1042N	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1070					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AATTTATTATCTGTCACTCGT	0.398																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3124-3126)Gat>Aat		folliculin interacting protein 1							123.0	110.0	115.0					5																	130987593		2203	4300	6503	SO:0001583	missense	96459							g.chr5:130987593C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3208G>A	5.37:g.130987593C>T	ENSP00000421985:p.Asp1070Asn					FNIP1_ENST00000510461.1_Missense_Mutation_p.D1070N|FNIP1_ENST00000307954.8_Missense_Mutation_p.D1025N|FNIP1_ENST00000514667.1_Intron	p.D1042N	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	15	3123	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3124G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207609	0.95033	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14266	2.52;2.54;2.53	5.82	5.82	0.92795	.	.	.	.	.	T	0.36936	0.0985	M	0.73962	2.25	0.80722	D	1	P;D	0.76494	0.705;0.999	P;D	0.63283	0.448;0.913	T	0.01440	-1.1354	9	0.25751	T	0.34	-9.2599	20.0953	0.97838	0.0:1.0:0.0:0.0	.	1042;1070	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	N	1042;1025;822;1070	ENSP00000309266:D1042N;ENSP00000310453:D1025N;ENSP00000421985:D1070N	ENSP00000310453:D1025N	D	-	1	0	FNIP1	131015492	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAT		0.398	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		12	27	0	0	0	1	0	12	27				
NAALADL1	10004	broad.mit.edu	37	11	64812754	64812754	+	Missense_Mutation	SNP	C	C	T	rs572772517		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:64812754C>T	ENST00000358658.3	-	18	2239	c.2212G>A	c.(2212-2214)Gct>Act	p.A738T	NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.A697T|NAALADL1_ENST00000356632.3_Missense_Mutation_p.A703T|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000526799.1_Missense_Mutation_p.A85T|NAALADL1_ENST00000340252.4_Missense_Mutation_p.A789T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	738						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGAGGTCAGCCACAGGCCTC	0.597																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2212-2214)Gct>Act		N-acetylated alpha-linked acidic dipeptidase-like 1							32.0	30.0	31.0					11																	64812754		2200	4296	6496	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64812754C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.2212G>A	11.37:g.64812754C>T	ENSP00000351484:p.Ala738Thr					NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.A697T|NAALADL1_ENST00000340252.4_Missense_Mutation_p.A789T|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.A703T|NAALADL1_ENST00000526799.1_Missense_Mutation_p.A85T	p.A738T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			18	2239	-			738					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.2212G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080240	0.36662	.	.	ENSG00000168060	ENST00000358658;ENST00000526799;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T	0.38240	1.15;1.29;1.17;1.33	4.56	0.312	0.15837	Transferrin receptor-like, dimerisation domain (1);	0.509696	0.20658	N	0.088063	T	0.20088	0.0483	L	0.28192	0.835	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.04551	-1.0943	10	0.40728	T	0.16	-0.031	4.5396	0.12050	0.0:0.4809:0.1553:0.3639	.	738	Q9UQQ1	NALDL_HUMAN	T	738;85;737;789;697;703	ENSP00000351484:A738T;ENSP00000344244:A789T;ENSP00000347955:A697T;ENSP00000349045:A703T	ENSP00000344244:A789T	A	-	1	0	NAALADL1	64569330	0.194000	0.23325	0.974000	0.42286	0.980000	0.70556	0.405000	0.21015	-0.092000	0.12417	0.556000	0.70494	GCT		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		5	16	0	0	0	1	0	5	16				
MED14	9282	broad.mit.edu	37	X	40572268	40572268	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:40572268C>T	ENST00000324817.1	-	6	797	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	227	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTCTCCTTCAACACGAAAC	0.413																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(679-681)Gaa>Aaa		mediator complex subunit 14							100.0	80.0	87.0					X																	40572268		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40572268C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.679G>A	X.37:g.40572268C>T	ENSP00000323720:p.Glu227Lys						p.E227K	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			6	797	-			227			Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.679G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275748	0.59649	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.20685	0.6	0.80722	D	1	B	0.32829	0.386	B	0.31245	0.126	T	0.32241	-0.9914	9	0.16896	T	0.51	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	227	O60244	MED14_HUMAN	K	227	.	ENSP00000323720:E227K	E	-	1	0	MED14	40457212	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.397000	0.79903	2.279000	0.76181	0.538000	0.68166	GAA		0.413	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		19	36	0	0	0	1	0	19	36				
MAGEE2	139599	broad.mit.edu	37	X	75004819	75004819	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:75004819C>G	ENST00000373359.2	-	1	260	c.68G>C	c.(67-69)aGa>aCa	p.R23T		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	23										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TATTTCACCTCTGCCGTCGCC	0.577																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(67-69)aGa>aCa		melanoma antigen family E, 2							41.0	31.0	35.0					X																	75004819		2202	4300	6502	SO:0001583	missense	139599							g.chrX:75004819C>G	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.68G>C	X.37:g.75004819C>G	ENSP00000362457:p.Arg23Thr						p.R23T	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	260	-			23					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.68G>C	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856945	0.17106	.	.	ENSG00000186675	ENST00000373359	T	0.03745	3.82	2.86	-1.86	0.07760	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.48980	-0.8986	9	0.13470	T	0.59	.	3.033	0.06112	0.2038:0.3019:0.0:0.4944	.	23	Q8TD90	MAGE2_HUMAN	T	23	ENSP00000362457:R23T	ENSP00000362457:R23T	R	-	2	0	MAGEE2	74921544	0.020000	0.18652	0.001000	0.08648	0.016000	0.09150	-0.185000	0.09684	-0.636000	0.05524	-0.382000	0.06688	AGA		0.577	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		18	35	0	0	0	1	0	18	35				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	41	0	0	0	1	0	5	41				
TRIOBP	11078	broad.mit.edu	37	22	38121380	38121380	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:38121380C>T	ENST00000406386.3	+	7	3072	c.2817C>T	c.(2815-2817)ctC>ctT	p.L939L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	939					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCGCCCTCCGGCCAACCC	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2815-2817)ctC>ctT		TRIO and F-actin binding protein							104.0	122.0	116.0					22																	38121380		2085	4214	6299	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121380C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2817C>T	22.37:g.38121380C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.L939L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3072	+	Melanoma(58;0.0574)		939					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2817C>T	CCDS43015.1																																																																																				0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			52	150	0	0	0	1	0	52	150				
SLC27A6	28965	broad.mit.edu	37	5	128324312	128324312	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:128324312G>A	ENST00000262462.4	+	3	1715	c.705G>A	c.(703-705)gtG>gtA	p.V235V	SLC27A6_ENST00000506176.1_Silent_p.V235V|SLC27A6_ENST00000395266.1_Silent_p.V235V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	235					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGCAGCTGTGATTAGTCAGC	0.363																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(703-705)gtG>gtA		solute carrier family 27 (fatty acid transporter), member 6							162.0	166.0	164.0					5																	128324312		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128324312G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.705G>A	5.37:g.128324312G>A						SLC27A6_ENST00000395266.1_Silent_p.V235V|SLC27A6_ENST00000506176.1_Silent_p.V235V	p.V235V			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	3	1715	+		all_cancers(142;0.0483)|Prostate(80;0.055)	235					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.705G>A	CCDS4145.1																																																																																				0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		29	55	0	0	0	1	0	29	55				
TRAF2	7186	broad.mit.edu	37	9	139820216	139820216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:139820216C>T	ENST00000247668.2	+	11	1421	c.1369C>T	c.(1369-1371)Cag>Tag	p.Q457*	TRAF2_ENST00000536468.1_Nonsense_Mutation_p.Q457*|TRAF2_ENST00000359662.3_Nonsense_Mutation_p.Q509*	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	457	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ATCCTCTTTTCAGAGGCCAGT	0.572																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1525-1527)Cag>Tag		TNF receptor-associated factor 2							97.0	76.0	83.0					9																	139820216		2203	4300	6503	SO:0001587	stop_gained	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139820216C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1369C>T	9.37:g.139820216C>T	ENSP00000247668:p.Gln457*					TRAF2_ENST00000247668.2_Nonsense_Mutation_p.Q457*|TRAF2_ENST00000536468.1_Nonsense_Mutation_p.Q457*	p.Q509*			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	11	1570	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	457					A8K107|B4DPJ7|Q7Z337|Q96NT2	Nonsense_Mutation	SNP	ENST00000247668.2	37	c.1525C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890649	0.97074	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	.	.	.	4.37	4.37	0.52481	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-44.5902	16.0753	0.80965	0.0:1.0:0.0:0.0	.	.	.	.	X	457;456;457;509;378	.	ENSP00000247668:Q457X	Q	+	1	0	TRAF2	138940037	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.410000	0.80065	2.286000	0.76751	0.561000	0.74099	CAG		0.572	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		20	48	0	0	0	1	0	20	48				
TRIM29	23650	broad.mit.edu	37	11	120008395	120008395	+	Silent	SNP	C	C	T	rs201439224		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:120008395C>T	ENST00000341846.5	-	1	766	c.345G>A	c.(343-345)aaG>aaA	p.K115K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	115					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGGTGGCTTCTTGGCAGCCC	0.607																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(343-345)aaG>aaA		tripartite motif containing 29							141.0	155.0	150.0					11																	120008395		2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008395C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.345G>A	11.37:g.120008395C>T							p.K115K	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	766	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	115					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.345G>A	CCDS8428.1																																																																																				0.607	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		24	267	0	0	0	1	0	24	267				
EIF2AK4	440275	broad.mit.edu	37	15	40259877	40259877	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:40259877C>T	ENST00000263791.5	+	9	1393	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	EIF2AK4_ENST00000382727.2_Silent_p.L450L|EIF2AK4_ENST00000559624.1_Silent_p.L450L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	450	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTAAGCGCCTCGCAGACATTT	0.468																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1348-1350)ctC>ctT		eukaryotic translation initiation factor 2 alpha kinase 4							113.0	109.0	110.0					15																	40259877		1982	4164	6146	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40259877C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1350C>T	15.37:g.40259877C>T						EIF2AK4_ENST00000559624.1_Silent_p.L450L|EIF2AK4_ENST00000382727.2_Silent_p.L450L	p.L450L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	9	1393	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	450			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1350C>T	CCDS42016.1																																																																																				0.468	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			4	70	0	0	0	1	0	4	70				
GTF2E1	2960	broad.mit.edu	37	3	120469577	120469577	+	Nonsense_Mutation	SNP	C	C	T	rs139408677	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:120469577C>T	ENST00000283875.5	+	2	271	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	60	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R60*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAAGCAACTTCGATCAGTTTT	0.448																																						ENST00000283875.5																			1	Substitution - Nonsense(1)	p.R60*(1)	breast(1)	NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(178-180)Cga>Tga		general transcription factor IIE, polypeptide 1, alpha 56kDa							102.0	95.0	97.0					3																	120469577		2203	4300	6503	SO:0001587	stop_gained	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469577C>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.178C>T	3.37:g.120469577C>T	ENSP00000283875:p.Arg60*						p.R60*	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	271	+			60			HTH TFE/IIEalpha-type.		Q16103	Nonsense_Mutation	SNP	ENST00000283875.5	37	c.178C>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900996	0.92035	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.6536	13.6008	0.62018	0.2628:0.7372:0.0:0.0	.	.	.	.	X	60	.	.	R	+	1	2	GTF2E1	121952267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.193000	0.50997	2.795000	0.96236	0.655000	0.94253	CGA		0.448	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		5	62	0	0	0	1	0	5	62				
CFAP58	159686	broad.mit.edu	37	10	106128284	106128284	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:106128284C>T	ENST00000369704.3	+	6	1030	c.896C>T	c.(895-897)tCc>tTc	p.S299F	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		299						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGCAGCTATCCCAGGAAAAC	0.438																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(895-897)tCc>tTc		coiled-coil domain containing 147							114.0	101.0	105.0					10																	106128284		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106128284C>T																												ENST00000369704.3:c.896C>T	10.37:g.106128284C>T	ENSP00000358718:p.Ser299Phe					CCDC147_ENST00000312902.5_5'UTR	p.S299F	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	6	1030	+		Colorectal(252;0.103)|Breast(234;0.122)	299					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.896C>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	2.622	-0.288324	0.05605	.	.	ENSG00000120051	ENST00000369704	T	0.31769	1.48	5.99	4.08	0.47627	.	0.584885	0.20168	N	0.097797	T	0.19287	0.0463	N	0.15975	0.35	0.26343	N	0.97733	B	0.12013	0.005	B	0.17098	0.017	T	0.16897	-1.0387	10	0.59425	D	0.04	-0.9374	10.847	0.46748	0.0:0.6841:0.2455:0.0704	.	299	Q5T655	CC147_HUMAN	F	299	ENSP00000358718:S299F	ENSP00000358718:S299F	S	+	2	0	CCDC147	106118274	0.051000	0.20477	0.999000	0.59377	0.570000	0.35934	2.428000	0.44749	1.530000	0.49136	-0.165000	0.13383	TCC		0.438	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			23	39	0	0	0	1	0	23	39				
NRAP	4892	broad.mit.edu	37	10	115409891	115409891	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:115409891G>A	ENST00000359988.3	-	9	1037	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	NRAP_ENST00000369358.4_Missense_Mutation_p.H265Y|NRAP_ENST00000369360.3_Missense_Mutation_p.H265Y|NRAP_ENST00000360478.3_Missense_Mutation_p.H265Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATTGTTGATGGTACCTCACC	0.443																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(793-795)Cat>Tat		nebulin-related anchoring protein							167.0	148.0	154.0					10																	115409891		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115409891G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.793C>T	10.37:g.115409891G>A	ENSP00000353078:p.His265Tyr					NRAP_ENST00000360478.3_Missense_Mutation_p.H265Y|NRAP_ENST00000359988.3_Missense_Mutation_p.H265Y|NRAP_ENST00000369360.3_Missense_Mutation_p.H265Y	p.H265Y			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	9	1037	-		Colorectal(252;0.0233)|Breast(234;0.188)	265						Missense_Mutation	SNP	ENST00000359988.3	37	c.793C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213322	0.79352	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18338	2.46;2.42;2.34;2.22	6.17	5.27	0.74061	.	0.153239	0.64402	D	0.000011	T	0.33323	0.0859	L	0.60455	1.87	0.34174	D	0.670111	D;D;D	0.61080	0.981;0.989;0.981	P;P;P	0.59115	0.716;0.852;0.716	T	0.51188	-0.8737	10	0.66056	D	0.02	.	13.2604	0.60102	0.0726:0.0:0.9274:0.0	.	265;265;265	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	265	ENSP00000358365:H265Y;ENSP00000358367:H265Y;ENSP00000353078:H265Y;ENSP00000353666:H265Y	ENSP00000353078:H265Y	H	-	1	0	NRAP	115399881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.320000	0.59203	1.631000	0.50456	0.655000	0.94253	CAT		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		39	88	0	0	0	1	0	39	88				
PHF19	26147	broad.mit.edu	37	9	123631545	123631545	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:123631545A>C	ENST00000373896.3	-	6	781	c.529T>G	c.(529-531)Tcc>Gcc	p.S177A	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	177					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTGGTAGGACAGCACCATC	0.672																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(529-531)Tcc>Gcc		PHD finger protein 19							33.0	29.0	31.0					9																	123631545		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123631545A>C	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.529T>G	9.37:g.123631545A>C	ENSP00000363003:p.Ser177Ala						p.S177A	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			6	781	-			177					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.529T>G	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372634	0.61624	.	.	ENSG00000119403	ENST00000544082;ENST00000373896	T	0.16597	2.33	5.4	5.4	0.78164	.	0.431057	0.27631	N	0.018509	T	0.10252	0.0251	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.11542	-1.0583	10	0.45353	T	0.12	-13.513	9.9183	0.41448	0.8481:0.0:0.0:0.1518	.	177	Q5T6S3	PHF19_HUMAN	A	177	ENSP00000363003:S177A	ENSP00000363003:S177A	S	-	1	0	PHF19	122671366	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.557000	0.45871	2.040000	0.60383	0.254000	0.18369	TCC		0.672	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		8	12	0	0	0	1	0	8	12				
RABL6	55684	broad.mit.edu	37	9	139734271	139734271	+	Silent	SNP	C	C	T	rs567190199	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:139734271C>T	ENST00000311502.7	+	13	2120	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Silent_p.F629F|RABL6_ENST00000371675.3_Silent_p.F513F|RABL6_ENST00000432842.2_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	628					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CGGACCTCTTCGGGCTGGGGC	0.662													c|||	2	0.000399361	0.0008	0.0	5008	,	,		15158	0.0		0.0	False		,,,				2504	0.001					ENST00000371675.3																			0											c.(1537-1539)ttC>ttT		RAB, member RAS oncogene family-like 6							25.0	31.0	29.0					9																	139734271		1901	4102	6003	SO:0001819	synonymous_variant	55684							g.chr9:139734271C>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1884C>T	9.37:g.139734271C>T						RABL6_ENST00000371663.4_Silent_p.F629F|RABL6_ENST00000311502.7_Silent_p.F628F|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR	p.F513F							13	2424	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1539C>T	CCDS48058.1																																																																																				0.662	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		8	40	0	0	0	1	0	8	40				
NUP50	10762	broad.mit.edu	37	22	45574294	45574294	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:45574294G>A	ENST00000347635.4	+	5	982	c.516G>A	c.(514-516)gtG>gtA	p.V172V	CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.V144V|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000396096.2_Silent_p.V144V	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	172	5 X 2 AA repeats of F-G.|Binding to CDKN1B. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGGATAGTGAAGCACGTGA	0.483																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(514-516)gtG>gtA		nucleoporin 50kDa							23.0	25.0	24.0					22																	45574294		2198	4278	6476	SO:0001819	synonymous_variant	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574294G>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.516G>A	22.37:g.45574294G>A						NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.V144V|NUP50_ENST00000396096.2_Silent_p.V144V|NUP50_ENST00000425733.2_5'UTR	p.V172V	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	982	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	172			5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity).		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	c.516G>A	CCDS14062.1																																																																																				0.483	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			14	48	0	0	0	1	0	14	48				
CYB5R4	51167	broad.mit.edu	37	6	84569524	84569524	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr6:84569524C>T	ENST00000369681.5	+	1	163	c.23C>T	c.(22-24)tCt>tTt	p.S8F	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	8					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCTTCCCAGTCTTTCCCGGCC	0.701											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(22-24)tCt>tTt		cytochrome b5 reductase 4							21.0	26.0	24.0					6																	84569524		2203	4298	6501	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84569524C>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.23C>T	6.37:g.84569524C>T	ENSP00000358695:p.Ser8Phe		OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1230	CYB5R4_ENST00000369679.4_5'UTR	p.S8F	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	1	163	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	8					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.23C>T	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818036	0.50633	.	.	ENSG00000065615	ENST00000369681	T	0.45276	0.9	5.55	3.73	0.42828	.	0.397901	0.28082	N	0.016672	T	0.18718	0.0449	N	0.08118	0	0.80722	D	1	P	0.37663	0.604	P	0.46510	0.519	T	0.17048	-1.0382	10	0.62326	D	0.03	.	11.4802	0.50320	0.1315:0.6146:0.2539:0.0	.	8	Q7L1T6	NB5R4_HUMAN	F	8	ENSP00000358695:S8F	ENSP00000358695:S8F	S	+	2	0	CYB5R4	84626243	0.997000	0.39634	0.979000	0.43373	0.116000	0.19942	2.908000	0.48750	0.861000	0.35504	-0.175000	0.13238	TCT		0.701	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		3	16	0	0	0	1	0	3	16				
KAT7	11143	broad.mit.edu	37	17	47895328	47895328	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:47895328C>T	ENST00000259021.4	+	9	1390	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	KAT7_ENST00000503935.2_Silent_p.F214F|KAT7_ENST00000435742.2_Silent_p.F184F|KAT7_ENST00000454930.2_Silent_p.F231F|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000509773.1_Silent_p.F260F|KAT7_ENST00000424009.2_Silent_p.F340F|KAT7_ENST00000510819.1_Silent_p.F201F	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	370	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGTGTGAATTCTGTTTAAAAT	0.438																																						ENST00000503935.2																			0											c.(640-642)ttC>ttT		K(lysine) acetyltransferase 7							77.0	75.0	76.0					17																	47895328		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47895328C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1110C>T	17.37:g.47895328C>T						KAT7_ENST00000510819.1_Silent_p.F201F|KAT7_ENST00000509773.1_Silent_p.F260F|KAT7_ENST00000454930.2_Silent_p.F231F|KAT7_ENST00000435742.2_Silent_p.F184F|KAT7_ENST00000424009.2_Silent_p.F340F|KAT7_ENST00000259021.4_Silent_p.F370F|KAT7_ENST00000513980.1_Intron	p.F214F			O95251	MYST2_HUMAN			9	1678	+			370					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.642C>T	CCDS11554.1																																																																																				0.438	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		17	32	0	0	0	1	0	17	32				
RABL6	55684	broad.mit.edu	37	9	139734268	139734268	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:139734268C>T	ENST00000311502.7	+	13	2117	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Silent_p.L628L|RABL6_ENST00000371675.3_Silent_p.L512L|RABL6_ENST00000432842.2_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	627					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACTCGGACCTCTTCGGGCTGG	0.662																																						ENST00000371675.3																			0											c.(1534-1536)ctC>ctT		RAB, member RAS oncogene family-like 6							27.0	33.0	31.0					9																	139734268		1899	4101	6000	SO:0001819	synonymous_variant	55684							g.chr9:139734268C>T	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1881C>T	9.37:g.139734268C>T						RABL6_ENST00000371663.4_Silent_p.L628L|RABL6_ENST00000311502.7_Silent_p.L627L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR	p.L512L							13	2421	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1536C>T	CCDS48058.1																																																																																				0.662	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		8	40	0	0	0	1	0	8	40				
BAMBI	25805	broad.mit.edu	37	10	28970441	28970441	+	Missense_Mutation	SNP	G	G	A	rs111458570		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:28970441G>A	ENST00000375533.3	+	2	887	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	111					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGGCTGCACGATGTTCTCTC	0.527																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(331-333)Gat>Aat		BMP and activin membrane-bound inhibitor		G	ASN/ASP	0,4406		0,0,2203	98.0	106.0	103.0		331	5.7	0.3	10	dbSNP_132	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAMBI	NM_012342.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	111/261	28970441	1,13005	2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970441G>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.331G>A	10.37:g.28970441G>A	ENSP00000364683:p.Asp111Asn						p.D111N	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	887	+			111						Missense_Mutation	SNP	ENST00000375533.3	37	c.331G>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880800	0.72294	0.0	1.16E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70022	-0.4986	9	0.28530	T	0.3	-15.0857	19.7198	0.96137	0.0:0.0:1.0:0.0	.	111;111	Q13145;Q53G66	BAMBI_HUMAN;.	N	111;98	.	ENSP00000364683:D111N	D	+	1	0	BAMBI	29010447	1.000000	0.71417	0.346000	0.25655	0.730000	0.41778	9.804000	0.99143	2.668000	0.90789	0.655000	0.94253	GAT		0.527	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		33	59	0	0	0	1	0	33	59				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	32	0	0	0	1	0	3	32				
TMC5	79838	broad.mit.edu	37	16	19501748	19501748	+	Nonsense_Mutation	SNP	C	C	T	rs560230921		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:19501748C>T	ENST00000396229.2	+	18	3354	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	TMC5_ENST00000561503.1_Nonsense_Mutation_p.R510*|TMC5_ENST00000564959.1_Nonsense_Mutation_p.R552*|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Nonsense_Mutation_p.R869*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.R623*|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Nonsense_Mutation_p.R817*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R869*(2)|p.R623*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCCTTTTCGAGGTCTGCC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.001					ENST00000396229.2																			4	Substitution - Nonsense(4)	p.R869*(2)|p.R623*(2)	liver(4)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2605-2607)Cga>Tga		transmembrane channel-like 5							213.0	183.0	193.0					16																	19501748		2197	4300	6497	SO:0001587	stop_gained	79838					integral to membrane		g.chr16:19501748C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2605C>T	16.37:g.19501748C>T	ENSP00000379531:p.Arg869*					TMC5_ENST00000564959.1_Nonsense_Mutation_p.R552*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.R510*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.R869*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.R817*|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Nonsense_Mutation_p.R623*	p.R869*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			18	3354	+			869					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Nonsense_Mutation	SNP	ENST00000396229.2	37	c.2605C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	40	8.406056	0.98796	.	.	ENSG00000103534	ENST00000541464;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	.	.	.	5.41	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7793	13.6434	0.62265	0.2815:0.7185:0.0:0.0	.	.	.	.	X	817;869;869;623;552	.	ENSP00000219821:R623X	R	+	1	2	TMC5	19409249	0.963000	0.33076	0.844000	0.33320	0.882000	0.50991	2.070000	0.41491	1.242000	0.43836	0.561000	0.74099	CGA		0.483	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		6	151	0	0	0	1	0	6	151				
RIBC1	158787	broad.mit.edu	37	X	53455326	53455326	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:53455326C>T	ENST00000375327.3	+	5	448	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RIBC1_ENST00000457095.1_Missense_Mutation_p.R99W|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	99										lung(2)	2						CCAGGAGTTTCGGGAGCAGAA	0.512																																						ENST00000457095.1																			0				lung(2)	2						c.(295-297)Cgg>Tgg		RIB43A domain with coiled-coils 1							93.0	81.0	85.0					X																	53455326		2203	4300	6503	SO:0001583	missense	158787							g.chrX:53455326C>T	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.295C>T	X.37:g.53455326C>T	ENSP00000364476:p.Arg99Trp					RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.R99W	p.R99W	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN			5	499	+			99					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.295C>T	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807600	0.31961	.	.	ENSG00000158423	ENST00000329209;ENST00000457095;ENST00000375327	T;T;T	0.58797	0.31;0.31;0.31	5.18	2.22	0.28083	.	0.210272	0.40222	N	0.001145	T	0.50990	0.1648	M	0.84948	2.725	0.09310	N	1	P;B	0.38504	0.634;0.113	B;B	0.29942	0.109;0.02	T	0.53556	-0.8422	10	0.56958	D	0.05	-5.214	4.1088	0.10049	0.4589:0.3584:0.0:0.1827	.	99;99	Q8N443;Q8N443-2	RIBC1_HUMAN;.	W	99	ENSP00000332142:R99W;ENSP00000402080:R99W;ENSP00000364476:R99W	ENSP00000332142:R99W	R	+	1	2	RIBC1	53472051	0.069000	0.21087	0.001000	0.08648	0.898000	0.52572	-0.019000	0.12546	0.409000	0.25649	0.600000	0.82982	CGG		0.512	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		13	13	0	0	0	1	0	13	13				
PCDHB8	56128	broad.mit.edu	37	5	140559795	140559795	+	Nonsense_Mutation	SNP	C	C	G	rs373326707|rs541109899	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140559795C>G	ENST00000239444.2	+	1	2425	c.2180C>G	c.(2179-2181)tCa>tGa	p.S727*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	727					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCAGTGCCTGAG	0.647																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2179-2181)tCa>tGa									84.0	87.0	86.0					5																	140559795		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559795C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2180C>G	5.37:g.140559795C>G	ENSP00000239444:p.Ser727*						p.S727*	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2425	+			727					B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.2180C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114465	0.94339	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.19	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.121	0.06391	0.0:0.4681:0.2234:0.3085	.	.	.	.	X	727	.	ENSP00000239444:S727X	S	+	2	0	PCDHB8	140539979	0.009000	0.17119	0.001000	0.08648	0.004000	0.04260	1.751000	0.38339	0.739000	0.32628	-0.717000	0.03617	TCA		0.647	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		9	191	0	0	0	1	0	9	191				
CKLF	51192	broad.mit.edu	37	16	66599825	66599825	+	Missense_Mutation	SNP	G	G	A	rs372025298		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:66599825G>A	ENST00000264001.4	+	4	519	c.370G>A	c.(370-372)Gac>Aac	p.D124N	CMTM1_ENST00000533953.1_5'Flank|CKLF_ENST00000362093.4_Missense_Mutation_p.D39N|CMTM1_ENST00000529506.1_5'Flank|CKLF_ENST00000345436.4_Missense_Mutation_p.D92N|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_5'Flank|CMTM1_ENST00000531885.1_5'Flank|CKLF_ENST00000417030.2_Intron|CMTM1_ENST00000336328.6_5'Flank|CKLF_ENST00000563092.1_3'UTR|CMTM1_ENST00000535705.1_5'Flank|CKLF_ENST00000351137.4_Missense_Mutation_p.D71N|CMTM1_ENST00000457188.2_5'Flank|CMTM1_ENST00000379500.2_5'Flank|CMTM1_ENST00000528324.1_5'Flank|CMTM1_ENST00000332695.7_5'Flank|CMTM1_ENST00000533666.1_5'Flank|CKLF-CMTM1_ENST00000532838.1_Intron	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	124	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CTGTCTTGCCGACGGGGCCCT	0.448																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(370-372)Gac>Aac		chemokine-like factor		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,,,,	0,4402		0,0,2201	139.0	126.0	131.0		115,370,211,274,,,,	4.8	0.1	16		131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron,intron,intron,intron	CKLF,CKLF-CMTM1	NM_016326.3,NM_016951.3,NM_181640.2,NM_181641.2,NM_001040138.2,NM_001202509.1,NM_001204098.1,NM_001204099.1	23,23,23,23,,,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,,	39/68,124/153,71/100,92/121,,,,	66599825	1,13001	2201	4300	6501	SO:0001583	missense	51192							g.chr16:66599825G>A	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.370G>A	16.37:g.66599825G>A	ENSP00000264001:p.Asp124Asn					CKLF_ENST00000362093.4_Missense_Mutation_p.D39N|CKLF_ENST00000351137.4_Missense_Mutation_p.D71N|CKLF_ENST00000345436.4_Missense_Mutation_p.D92N|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000417030.2_Intron	p.D124N	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	4	519	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.370G>A	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390659	0.95988	0.0	1.16E-4	ENSG00000217555	ENST00000264001;ENST00000351137;ENST00000345436;ENST00000362093;ENST00000361141	T	0.61742	0.08	4.83	4.83	0.62350	Marvel (1);	.	.	.	.	T	0.72716	0.3495	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.73341	-0.4013	9	0.52906	T	0.07	-29.581	13.6266	0.62168	0.0:0.0:1.0:0.0	.	124;39;71;92	Q9UBR5;Q9UBR5-3;Q5BJH6;Q9UBR5-4	CKLF_HUMAN;.;.;.	N	124;71;92;39;124	ENSP00000264001:D124N	ENSP00000264001:D124N	D	+	1	0	CKLF	65157326	0.900000	0.30661	0.138000	0.22173	0.719000	0.41307	4.079000	0.57613	2.686000	0.91538	0.514000	0.50259	GAC		0.448	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		9	56	0	0	0	1	0	9	56				
ZNF397	84307	broad.mit.edu	37	18	32822651	32822651	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:32822651G>A	ENST00000330501.7	+	2	370	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000355632.4_Missense_Mutation_p.E73K|ZNF397_ENST00000592264.1_Missense_Mutation_p.E73K|ZNF397_ENST00000591206.1_Missense_Mutation_p.E73K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E73K|ZNF397_ENST00000261333.6_Missense_Mutation_p.E73K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	73	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CCGACTCCAGGAACTTTGCTA	0.512																																						ENST00000330501.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						c.(217-219)Gaa>Aaa		zinc finger protein 397							52.0	56.0	54.0					18																	32822651		2203	4300	6503	SO:0001583	missense	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32822651G>A	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.217G>A	18.37:g.32822651G>A	ENSP00000331577:p.Glu73Lys					ZNF397_ENST00000592264.1_Missense_Mutation_p.E73K|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.E73K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E73K|ZNF397_ENST00000355632.4_Missense_Mutation_p.E73K|ZNF397_ENST00000591206.1_Missense_Mutation_p.E73K	p.E73K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN			2	370	+			73			SCAN box.		Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	c.217G>A	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506947	0.64410	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.07216	3.21;3.21;3.21	4.19	3.3	0.37823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34245	N	0.004139	T	0.29389	0.0732	M	0.87097	2.86	0.28587	N	0.909822	D;P;D;D	0.69078	0.997;0.901;0.996;0.99	D;P;D;P	0.79108	0.992;0.617;0.987;0.829	T	0.07693	-1.0759	10	0.62326	D	0.03	.	9.527	0.39171	0.0:0.0:0.6171:0.3828	.	73;73;73;73	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	K	73	ENSP00000261333:E73K;ENSP00000331577:E73K;ENSP00000347850:E73K	ENSP00000261333:E73K	E	+	1	0	ZNF397	31076649	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	3.790000	0.55461	1.339000	0.45563	0.591000	0.81541	GAA		0.512	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		17	63	0	0	0	1	0	17	63				
CLDN2	9075	broad.mit.edu	37	X	106144027	106144027	+	Intron	SNP	G	G	A	rs182725533		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:106144027G>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Silent_p.S89S|RIPPLY1_ENST00000276173.4_Silent_p.S136S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						cttcttcttcGCTGTCTGAGT	0.502													G|||	5	0.0013245	0.0	0.0	3775	,	,		14532	0.005		0.0	False		,,,				2504	0.0					ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(406-408)agC>agT		ripply transcriptional repressor 1							173.0	168.0	170.0					X																	106144027		2052	4174	6226	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106144027G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+293G>A	X.37:g.106144027G>A						CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Silent_p.S89S	p.S136S	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN			4	437	-			136					B2R6B9	Silent	SNP	ENST00000541806.1	37	c.408C>T	CCDS14524.1																																																																																				0.502	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			9	24	0	0	0	1	0	9	24				
TGM5	9333	broad.mit.edu	37	15	43526973	43526973	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43526973C>T	ENST00000220420.5	-	11	1876	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	TGM5_ENST00000349114.4_Silent_p.T541T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	623					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTACATTAATCGTGATGCTTG	0.542																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1867-1869)acG>acA		transglutaminase 5	L-Glutamine(DB00130)						156.0	145.0	149.0					15																	43526973		2203	4299	6502	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43526973C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1869G>A	15.37:g.43526973C>T						TGM5_ENST00000349114.4_Silent_p.T541T	p.T623T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	11	1876	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	623					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1869G>A	CCDS32212.1																																																																																				0.542	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		4	66	0	0	0	1	0	4	66				
ZNF561	93134	broad.mit.edu	37	19	9721241	9721241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:9721241G>A	ENST00000302851.3	-	6	1459	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	ZNF561_ENST00000424629.1_Nonsense_Mutation_p.Q297*|ZNF561_ENST00000354661.4_Nonsense_Mutation_p.Q230*|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	366					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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TCCTTACACTGATAGGGTTTC	0.423																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1096-1098)Cag>Tag		zinc finger protein 561							125.0	116.0	119.0					19																	9721241		2203	4300	6503	SO:0001587	stop_gained	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721241G>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1096C>T	19.37:g.9721241G>A	ENSP00000303915:p.Gln366*					ZNF561_ENST00000424629.1_Nonsense_Mutation_p.Q297*|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Nonsense_Mutation_p.Q230*	p.Q366*	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1459	-			366					B4E2Q8|Q6PJS0	Nonsense_Mutation	SNP	ENST00000302851.3	37	c.1096C>T	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894683	0.72639	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	.	.	.	1.1	-2.19	0.07015	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	3.9307	0.09283	0.0:0.405:0.3196:0.2754	.	.	.	.	X	297;366;230	.	ENSP00000303915:Q366X	Q	-	1	0	ZNF561	9582241	0.000000	0.05858	0.001000	0.08648	0.294000	0.27393	-7.018000	0.00046	-1.051000	0.03226	0.298000	0.19748	CAG		0.423	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		33	69	0	0	0	1	0	33	69				
ATP2C2	9914	broad.mit.edu	37	16	84438772	84438772	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:84438772G>A	ENST00000262429.4	+	3	338	c.249G>A	c.(247-249)acG>acA	p.T83T	ATP2C2_ENST00000416219.2_Silent_p.T83T	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	83					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCTCGGTGACGCAGCGCCGGC	0.562																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(247-249)acG>acA		ATPase, Ca++ transporting, type 2C, member 2							66.0	73.0	71.0					16																	84438772		2096	4235	6331	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438772G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.249G>A	16.37:g.84438772G>A						ATP2C2_ENST00000262429.4_Silent_p.T83T	p.T83T			O75185	AT2C2_HUMAN			3	338	+			83					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.249G>A	CCDS42207.1																																																																																				0.562	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		4	37	0	0	0	1	0	4	37				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			101927648							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	9	0	0	0	1	0	3	9				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258189	16258189	+	RNA	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:16258189C>T	ENST00000570786.1	+	0	544				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TTCGAGGCTCCGCCTGCTGCC	0.592																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258189C>T			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258189C>T						TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1						0	544	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.592	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		3	8	0	0	0	1	0	3	8				
FNIP1	96459	broad.mit.edu	37	5	130987601	130987601	+	Missense_Mutation	SNP	C	C	T	rs138667282	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:130987601C>T	ENST00000510461.1	-	16	3295	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	FNIP1_ENST00000307954.8_Missense_Mutation_p.R1022Q|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.R1039Q	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1067					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATCTGTCACTCGTCTCTGGCT	0.403																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3115-3117)cGa>cAa		folliculin interacting protein 1		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	106.0	110.0		3116,3200	4.9	0.9	5	dbSNP_134	110	0,8600		0,0,4300	no	missense,missense	FNIP1	NM_001008738.2,NM_133372.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1039/1139,1067/1167	130987601	1,13005	2203	4300	6503	SO:0001583	missense	96459							g.chr5:130987601C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3200G>A	5.37:g.130987601C>T	ENSP00000421985:p.Arg1067Gln					FNIP1_ENST00000510461.1_Missense_Mutation_p.R1067Q|FNIP1_ENST00000307954.8_Missense_Mutation_p.R1022Q|FNIP1_ENST00000514667.1_Intron	p.R1039Q	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	15	3115	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3116G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508825	0.85282	2.27E-4	0.0	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12672	2.66;2.66;2.66	5.82	4.95	0.65309	.	.	.	.	.	T	0.24236	0.0587	L	0.43152	1.355	0.80722	D	1	P;D	0.71674	0.898;0.998	B;P	0.56788	0.443;0.806	T	0.00787	-1.1566	9	0.41790	T	0.15	-4.6666	14.9085	0.70737	0.0:0.9315:0.0:0.0685	.	1039;1067	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	Q	1039;1022;819;1067	ENSP00000309266:R1039Q;ENSP00000310453:R1022Q;ENSP00000421985:R1067Q	ENSP00000310453:R1022Q	R	-	2	0	FNIP1	131015500	1.000000	0.71417	0.921000	0.36526	0.889000	0.51656	6.086000	0.71352	1.478000	0.48253	0.655000	0.94253	CGA		0.403	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		14	28	0	0	0	1	0	14	28				
TAS1R2	80834	broad.mit.edu	37	1	19166330	19166330	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:19166330G>A	ENST00000375371.3	-	6	2304	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	761					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGAGGGTGATGAACTTGGCCT	0.562																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2281-2283)ttC>ttT		taste receptor, type 1, member 2	Aspartame(DB00168)						163.0	128.0	140.0					1																	19166330		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166330G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2283C>T	1.37:g.19166330G>A							p.F761F	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2304	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	761					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.2283C>T	CCDS187.1																																																																																				0.562	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			10	30	0	0	0	1	0	10	30				
TMEM117	84216	broad.mit.edu	37	12	44537383	44537383	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:44537383G>A	ENST00000266534.3	+	4	593	c.466G>A	c.(466-468)Gct>Act	p.A156T	TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.A156T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CATGAAATTAGCTGCAGTAGG	0.413																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(466-468)Gct>Act		transmembrane protein 117							124.0	122.0	123.0					12																	44537383		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44537383G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.466G>A	12.37:g.44537383G>A	ENSP00000266534:p.Ala156Thr					TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.A156T	p.A156T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	4	593	+	Lung SC(27;0.192)		156						Missense_Mutation	SNP	ENST00000266534.3	37	c.466G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431785	0.96150	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56444	0.46;0.46	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.77557	0.981;0.99	T	0.72795	-0.4185	10	0.72032	D	0.01	-15.8424	19.5549	0.95342	0.0:0.0:1.0:0.0	.	156;156	F8VS00;Q9H0C3	.;TM117_HUMAN	T	156	ENSP00000448595:A156T;ENSP00000266534:A156T	ENSP00000266534:A156T	A	+	1	0	TMEM117	42823650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.716000	0.92895	0.655000	0.94253	GCT		0.413	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		16	60	0	0	0	1	0	16	60				
FRAS1	80144	broad.mit.edu	37	4	79366851	79366851	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:79366851C>G	ENST00000325942.6	+	42	6281	c.5841C>G	c.(5839-5841)atC>atG	p.I1947M	FRAS1_ENST00000264895.6_Missense_Mutation_p.I1947M	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1947					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTCACAGCATCAATATCACCA	0.373																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5839-5841)atC>atG		Fraser syndrome 1							209.0	209.0	209.0					4																	79366851		1876	4105	5981	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79366851C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5841C>G	4.37:g.79366851C>G	ENSP00000326330:p.Ile1947Met					FRAS1_ENST00000325942.6_Missense_Mutation_p.I1947M	p.I1947M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			42	6281	+			1946					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5841C>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.083243|2.083243	0.36758|0.36758	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895|ENST00000510944;ENST00000512123	T;T|.	0.51071|.	1.54;0.72|.	5.86|5.86	1.96|1.96	0.26148|0.26148	.|.	0.190218|.	0.47455|.	D|.	0.000231|.	T|T	0.45875|0.45875	0.1364|0.1364	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P|.	0.48230|.	0.907;0.901|.	P;P|.	0.48425|.	0.577;0.572|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|5	0.54805|.	T|.	0.06|.	.|.	3.2304|3.2304	0.06746|0.06746	0.2443:0.5055:0.1185:0.1317|0.2443:0.5055:0.1185:0.1317	.|.	1947;1947|.	E9PHH6;A2RRR8|.	.;.|.	M|E	1947|397;176	ENSP00000326330:I1947M;ENSP00000264895:I1947M|.	ENSP00000264895:I1947M|.	I|Q	+|+	3|1	3|0	FRAS1|FRAS1	79585875|79585875	0.961000|0.961000	0.32948|0.32948	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.042000|0.042000	0.13949|0.13949	0.360000|0.360000	0.24265|0.24265	0.585000|0.585000	0.79938|0.79938	ATC|CAA		0.373	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			11	201	0	0	0	1	0	11	201				
STRC	161497	broad.mit.edu	37	15	43896333	43896333	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43896333C>T	ENST00000450892.2	-	22	4313	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.E639E	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1412					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCCAGGGTCTCTGGACCCA	0.562																																						ENST00000450892.2																			0				skin(4)	4						c.(4234-4236)gaG>gaA		stereocilin							10.0	11.0	11.0					15																	43896333		2169	4254	6423	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43896333C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4236G>A	15.37:g.43896333C>T						STRC_ENST00000541030.1_Silent_p.E639E	p.E1412E	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4313	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1412						Silent	SNP	ENST00000450892.2	37	c.4236G>A	CCDS10098.1																																																																																				0.562	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		8	11	0	0	0	1	0	8	11				
SCRIB	23513	broad.mit.edu	37	8	144885676	144885676	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr8:144885676C>T	ENST00000320476.3	-	24	3486	c.3480G>A	c.(3478-3480)gtG>gtA	p.V1160V	SCRIB_ENST00000356994.2_Silent_p.V1160V|SCRIB_ENST00000377533.3_Silent_p.V1079V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1160	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCTGGTTCACCTCCAACA	0.687																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3478-3480)gtG>gtA		scribbled planar cell polarity protein							20.0	19.0	19.0					8																	144885676		2180	4272	6452	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885676C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3480G>A	8.37:g.144885676C>T						SCRIB_ENST00000377533.3_Silent_p.V1079V|SCRIB_ENST00000320476.3_Silent_p.V1160V	p.V1160V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3486	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1160			Interaction with ARHGEF7.|PDZ 4.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.3480G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.822	0.937866	0.18206	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	3.03	0.35002	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	.	9.1545	0.36985	0.0:0.8271:0.0:0.1729	.	.	.	.	K	156	.	.	E	-	1	0	SCRIB	144957664	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.780000	0.38634	0.453000	0.26858	-0.464000	0.05259	GAA		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		13	13	0	0	0	1	0	13	13				
PIK3C2B	5287	broad.mit.edu	37	1	204438434	204438434	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:204438434C>G	ENST00000367187.3	-	3	1053	c.497G>C	c.(496-498)tGg>tCg	p.W166S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W166S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	166	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGGGTATCCCAGATAGAAGC	0.577																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(496-498)tGg>tCg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							56.0	65.0	62.0					1																	204438434		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438434C>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.497G>C	1.37:g.204438434C>G	ENSP00000356155:p.Trp166Ser					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W166S	p.W166S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1053	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		166			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.497G>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990840	0.54041	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.59364	0.27;0.4	5.14	5.14	0.70334	.	1.833130	0.02445	N	0.085027	T	0.53222	0.1783	L	0.27053	0.805	0.53688	D	0.99997	P;P	0.44429	0.835;0.745	B;B	0.42798	0.398;0.224	T	0.36915	-0.9728	10	0.23302	T	0.38	.	13.3331	0.60500	0.0:0.8416:0.1584:0.0	.	166;166	F5GWN5;O00750	.;P3C2B_HUMAN	S	166	ENSP00000356155:W166S;ENSP00000400561:W166S	ENSP00000356155:W166S	W	-	2	0	PIK3C2B	202705057	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.993000	0.49425	2.384000	0.81235	0.462000	0.41574	TGG		0.577	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	157	0	0	0	1	0	9	157				
TYK2	7297	broad.mit.edu	37	19	10476542	10476542	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:10476542C>T	ENST00000525621.1	-	7	1143	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	TYK2_ENST00000524462.1_Missense_Mutation_p.R36Q|TYK2_ENST00000264818.6_Missense_Mutation_p.R221Q|TYK2_ENST00000529370.1_Missense_Mutation_p.R221Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	221	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCGGATATGCCGGCGGAAGGA	0.677																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(661-663)cGg>cAg		tyrosine kinase 2							12.0	14.0	13.0					19																	10476542		2174	4257	6431	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476542C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.662G>A	19.37:g.10476542C>T	ENSP00000431885:p.Arg221Gln					TYK2_ENST00000529370.1_Missense_Mutation_p.R221Q|TYK2_ENST00000524462.1_Missense_Mutation_p.R36Q|TYK2_ENST00000264818.6_Missense_Mutation_p.R221Q	p.R221Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1143	-			221			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.662G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575027	0.13623	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	T;T;T;T	0.75477	-0.94;0.98;0.98;0.98	4.66	-2.01	0.07410	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	1.705140	0.03991	N	0.294842	T	0.55561	0.1928	N	0.21373	0.66	0.09310	N	1	B;B	0.25850	0.068;0.136	B;B	0.16722	0.007;0.016	T	0.31081	-0.9956	10	0.14656	T	0.56	-3.7559	6.051	0.19785	0.157:0.6535:0.0:0.1895	.	221;221	E9PPF2;P29597	.;TYK2_HUMAN	Q	36;221;221;221	ENSP00000433203:R36Q;ENSP00000431885:R221Q;ENSP00000264818:R221Q;ENSP00000432728:R221Q	ENSP00000264818:R221Q	R	-	2	0	TYK2	10337542	0.000000	0.05858	0.084000	0.20598	0.130000	0.20726	-0.215000	0.09279	-0.415000	0.07484	0.561000	0.74099	CGG		0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			6	17	0	0	0	1	0	6	17				
CDC42BPB	9578	broad.mit.edu	37	14	103410646	103410646	+	Silent	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:103410646G>C	ENST00000361246.2	-	30	4278	c.3990C>G	c.(3988-3990)ctC>ctG	p.L1330L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGTGGCCATGAGCTGGCAGC	0.567																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3988-3990)ctC>ctG		CDC42 binding protein kinase beta (DMPK-like)							59.0	56.0	57.0					14																	103410646		2203	4298	6501	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410646G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3990C>G	14.37:g.103410646G>C							p.L1330L	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4278	-		Melanoma(154;0.155)	1330			CNH.			Silent	SNP	ENST00000361246.2	37	c.3990C>G	CCDS9978.1																																																																																				0.567	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		15	23	0	0	0	1	0	15	23				
NPHP4	261734	broad.mit.edu	37	1	5925255	5925255	+	Silent	SNP	G	G	A	rs375485412		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:5925255G>A	ENST00000378156.4	-	27	3988	c.3723C>T	c.(3721-3723)gtC>gtT	p.V1241V	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1241					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCTGCGACGCAGGAGA	0.632																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3721-3723)gtC>gtT		nephronophthisis 4		G		1,4167		0,1,2083	33.0	42.0	39.0		3723	2.3	0.1	1		39	0,8430		0,0,4215	no	coding-synonymous	NPHP4	NM_015102.3		0,1,6298	AA,AG,GG		0.0,0.024,0.0079		1241/1427	5925255	1,12597	2084	4215	6299	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5925255G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3723C>T	1.37:g.5925255G>A						NPHP4_ENST00000478423.2_5'UTR	p.V1241V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	27	3988	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1241					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3723C>T	CCDS44052.1																																																																																				0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			10	14	0	0	0	1	0	10	14				
AGTR1	185	broad.mit.edu	37	3	148459829	148459829	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:148459829C>T	ENST00000497524.1	+	2	1398	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	AGTR1_ENST00000542281.1_Missense_Mutation_p.T336M|AGTR1_ENST00000349243.3_Missense_Mutation_p.T336M|AGTR1_ENST00000402260.1_Missense_Mutation_p.T336M|AGTR1_ENST00000418473.2_Missense_Mutation_p.T336M|AGTR1_ENST00000461609.1_Missense_Mutation_p.T336M|AGTR1_ENST00000474935.1_Missense_Mutation_p.T336M|AGTR1_ENST00000475347.1_Missense_Mutation_p.T336M|AGTR1_ENST00000404754.2_Missense_Mutation_p.T336M	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	336			T -> P (in dbSNP:rs1801021).		angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.T336>?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAATGAGCACGCTTTCCTAC	0.408																																						ENST00000542281.1																			1	Complex(1)	p.T336>?(1)	lung(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1006-1008)aCg>aTg		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						72.0	71.0	72.0					3																	148459829		2197	4298	6495	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459829C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.1007C>T	3.37:g.148459829C>T	ENSP00000419422:p.Thr336Met					AGTR1_ENST00000418473.2_Missense_Mutation_p.T336M|AGTR1_ENST00000404754.2_Missense_Mutation_p.T336M|AGTR1_ENST00000497524.1_Missense_Mutation_p.T336M|AGTR1_ENST00000402260.1_Missense_Mutation_p.T336M|AGTR1_ENST00000461609.1_Missense_Mutation_p.T336M|AGTR1_ENST00000349243.3_Missense_Mutation_p.T336M|AGTR1_ENST00000475347.1_Missense_Mutation_p.T336M|AGTR1_ENST00000474935.1_Missense_Mutation_p.T336M	p.T336M	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1453	+			336		T -> P (in dbSNP:rs1801021).			Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.1007C>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771046	0.31320	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.53	4.66	0.58398	.	0.411033	0.27393	N	0.019574	T	0.38904	0.1058	N	0.19112	0.55	0.36257	D	0.854268	B	0.17268	0.021	B	0.09377	0.004	T	0.39860	-0.9593	10	0.45353	T	0.12	-0.9453	14.3534	0.66719	0.0:0.9288:0.0:0.0712	.	336	P30556	AGTR1_HUMAN	M	336	ENSP00000419422:T336M;ENSP00000273430:T336M;ENSP00000443186:T336M;ENSP00000398832:T336M;ENSP00000385612:T336M;ENSP00000419783:T336M;ENSP00000418084:T336M;ENSP00000418851:T336M;ENSP00000385641:T336M	ENSP00000273430:T336M	T	+	2	0	AGTR1	149942519	0.998000	0.40836	0.979000	0.43373	0.995000	0.86356	3.699000	0.54778	1.329000	0.45376	0.650000	0.86243	ACG		0.408	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			32	32	0	0	0	1	0	32	32				
CSMD1	64478	broad.mit.edu	37	8	2855702	2855702	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr8:2855702G>A	ENST00000520002.1	-	55	8766	c.8211C>T	c.(8209-8211)atC>atT	p.I2737I	CSMD1_ENST00000542608.1_Silent_p.I2678I|CSMD1_ENST00000537824.1_Silent_p.I2736I|CSMD1_ENST00000602723.1_Silent_p.I2679I|CSMD1_ENST00000400186.3_Silent_p.I2679I|CSMD1_ENST00000602557.1_Silent_p.I2737I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2737	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACCACATGTGATGGCTGTAG	0.453																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8209-8211)atC>atT		CUB and Sushi multiple domains 1							141.0	136.0	138.0					8																	2855702		2002	4172	6174	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2855702G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8211C>T	8.37:g.2855702G>A						CSMD1_ENST00000537824.1_Silent_p.I2736I|CSMD1_ENST00000520002.1_Silent_p.I2737I|CSMD1_ENST00000400186.3_Silent_p.I2679I|CSMD1_ENST00000542608.1_Silent_p.I2678I|CSMD1_ENST00000602723.1_Silent_p.I2679I	p.I2737I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	55	8766	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2737			Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8211C>T		.	.	.	.	.	.	.	.	.	.	G	9.250	1.040525	0.19669	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.07	5.11	0.69529	.	.	.	.	.	T	0.60805	0.2297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59172	-0.7504	4	.	.	.	.	9.7636	0.40548	0.0742:0.0:0.7903:0.1355	.	.	.	.	Y	2154	.	.	H	-	1	0	CSMD1	2843109	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.611000	0.36879	1.415000	0.47037	0.655000	0.94253	CAC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	66	0	0	0	1	0	7	66				
TTC3	7267	broad.mit.edu	37	21	38568201	38568201	+	Missense_Mutation	SNP	C	C	G	rs140969268		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:38568201C>G	ENST00000399017.2	+	42	8190	c.5443C>G	c.(5443-5445)Ctg>Gtg	p.L1815V	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.L1815V|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.L1815V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1815					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAGGCAGCTCTGTCAGAACG	0.597																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5443-5445)Ctg>Gtg		tetratricopeptide repeat domain 3		C	VAL/LEU,VAL/LEU	0,4406		0,0,2203	37.0	40.0	39.0		5443,5443	0.2	0.0	21	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC3	NM_001001894.1,NM_003316.3	32,32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	1815/2026,1815/2026	38568201	1,13005	2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568201C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5443C>G	21.37:g.38568201C>G	ENSP00000381981:p.Leu1815Val					TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.L1815V|TTC3_ENST00000355666.1_Missense_Mutation_p.L1815V	p.L1815V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			42	8190	+		Myeloproliferative disorder(46;0.0412)	1815					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5443C>G	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.053|3.053	-0.194960|-0.194960	0.06259|0.06259	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	T;T;T|.	0.08193|.	3.12;3.12;3.12|.	3.18|3.18	0.201|0.201	0.15186|0.15186	.|.	2.061430|.	0.02256|.	N|.	0.067131|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.24092|.	0.097|.	B|.	0.20767|.	0.031|.	T|T	0.26815|0.26815	-1.0092|-1.0092	10|5	0.20519|.	T|.	0.43|.	8.3782|8.3782	5.4474|5.4474	0.16544|0.16544	0.0:0.418:0.4556:0.1264|0.0:0.418:0.4556:0.1264	.|.	1815|.	P53804|.	TTC3_HUMAN|.	V|C	1815|106	ENSP00000347889:L1815V;ENSP00000381981:L1815V;ENSP00000346791:L1815V|.	ENSP00000346791:L1815V|.	L|S	+|+	1|2	2|0	TTC3|TTC3	37490071|37490071	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.973000|0.973000	0.29422|0.29422	0.040000|0.040000	0.15660|0.15660	-0.373000|-0.373000	0.07131|0.07131	CTG|TCT		0.597	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			27	37	0	0	0	1	0	27	37				
PRRC2B	84726	broad.mit.edu	37	9	134351533	134351533	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:134351533G>T	ENST00000357304.4	+	15	4072	c.4017G>T	c.(4015-4017)tgG>tgT	p.W1339C	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1339							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGTCAGTGGCCAGGCAGGC	0.662											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(4015-4017)tgG>tgT		proline-rich coiled-coil 2B							24.0	30.0	28.0					9																	134351533		1913	4115	6028	SO:0001583	missense	84726						protein binding	g.chr9:134351533G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4017G>T	9.37:g.134351533G>T	ENSP00000349856:p.Trp1339Cys		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.W1339C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	4072	+			1339					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4017G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.994508|1.994508	0.35226|0.35226	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000357304;ENST00000418650	.|T	.|0.01902	.|4.57	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.03641|0.03641	-1.1017|-1.1017	5|9	.|0.36615	.|T	.|0.2	.|.	18.7265|18.7265	0.91716|0.91716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|635;72;1339	.|Q5H9R5;Q5JSZ8;Q5JSZ5	.|.;.;PRC2B_HUMAN	S|C	73|1339;635	.|ENSP00000349856:W1339C	.|ENSP00000349856:W1339C	A|W	+|+	1|3	0|0	PRRC2B|PRRC2B	133341354|133341354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.121000|0.121000	0.20230|0.20230	7.482000|7.482000	0.81143|0.81143	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.662	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	51	1	0	1.01871e-10	1	1.05771e-10	20	51				
NCR1	9437	broad.mit.edu	37	19	55424082	55424082	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:55424082C>T	ENST00000291890.4	+	7	796	c.758C>T	c.(757-759)gCc>gTc	p.A253V	NCR1_ENST00000350790.5_Missense_Mutation_p.A158V|NCR1_ENST00000447255.1_Missense_Mutation_p.A252V|NCR1_ENST00000598576.1_Missense_Mutation_p.A240V|NCR1_ENST00000594765.1_Missense_Mutation_p.A252V|NCR1_ENST00000357397.5_Missense_Mutation_p.A146V|NCR1_ENST00000338835.5_Missense_Mutation_p.A236V	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	253					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GATCACACTGCCCAGAATCTC	0.498																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(754-756)gCc>gTc		natural cytotoxicity triggering receptor 1							127.0	89.0	102.0					19																	55424082		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55424082C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.758C>T	19.37:g.55424082C>T	ENSP00000291890:p.Ala253Val					NCR1_ENST00000291890.4_Missense_Mutation_p.A253V|NCR1_ENST00000447255.1_Missense_Mutation_p.A252V|NCR1_ENST00000338835.5_Missense_Mutation_p.A236V|NCR1_ENST00000357397.5_Missense_Mutation_p.A146V|NCR1_ENST00000350790.5_Missense_Mutation_p.A158V|NCR1_ENST00000598576.1_Missense_Mutation_p.A240V	p.A252V			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	7	780	+			253					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.755C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	0.158	-1.084138	0.01888	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00531	7.04;7.07;7.21;7.02;6.76	3.27	2.24	0.28232	.	819.862000	0.00166	N	0.000001	T	0.00271	0.0008	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;P;P	0.38395	0.443;0.084;0.136;0.315;0.629;0.495	B;B;B;B;B;B	0.29598	0.076;0.021;0.023;0.104;0.076;0.035	T	0.40869	-0.9540	10	0.15952	T	0.53	.	6.5572	0.22466	0.0:0.8684:0.0:0.1316	.	146;141;236;158;252;253	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	V	253;252;236;158;146	ENSP00000291890:A253V;ENSP00000404434:A252V;ENSP00000339515:A236V;ENSP00000344358:A158V;ENSP00000349972:A146V	ENSP00000291890:A253V	A	+	2	0	NCR1	60115894	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.472000	0.06623	0.975000	0.38392	0.650000	0.86243	GCC		0.498	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	39	0	0	0	1	0	34	39				
ARHGEF12	23365	broad.mit.edu	37	11	120351118	120351118	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:120351118G>A	ENST00000397843.2	+	38	4382	c.4216G>A	c.(4216-4218)Gat>Aat	p.D1406N	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1387N|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1303N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1406					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGAAGAGAAGGATGTTAATTT	0.383			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4216-4218)Gat>Aat		Rho guanine nucleotide exchange factor (GEF) 12							107.0	99.0	102.0					11																	120351118		1976	4144	6120	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120351118G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4216G>A	11.37:g.120351118G>A	ENSP00000380942:p.Asp1406Asn					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1303N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1387N	p.D1406N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	4382	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1406					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4216G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603735	0.66445	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66099	-0.08;-0.19;-0.08	5.51	4.59	0.56863	.	0.475392	0.17619	N	0.167786	T	0.48021	0.1477	N	0.24115	0.695	0.25569	N	0.986919	P;B	0.38504	0.634;0.309	B;B	0.36186	0.219;0.081	T	0.43940	-0.9360	10	0.34782	T	0.22	-10.424	14.5917	0.68371	0.0711:0.0:0.9289:0.0	.	1387;1406	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	N	1406;1387;1303	ENSP00000380942:D1406N;ENSP00000349056:D1387N;ENSP00000432984:D1303N	ENSP00000349056:D1387N	D	+	1	0	ARHGEF12	119856328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.808000	0.55598	2.580000	0.87095	0.655000	0.94253	GAT		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		4	70	0	0	0	1	0	4	70				
KRT8	3856	broad.mit.edu	37	12	53293763	53293763	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:53293763G>A	ENST00000552551.1	-	6	1209	c.777C>T	c.(775-777)atC>atT	p.I259I	KRT8_ENST00000293308.6_Silent_p.I259I|KRT8_ENST00000552150.1_Silent_p.I287I|KRT8_ENST00000546897.1_Silent_p.I259I			P05787	K2C8_HUMAN	keratin 8	259	Linker 12.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CCTCAGCAATGATGCTGTCCA	0.582																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(775-777)atC>atT		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	46.0	47.0					12																	53293763		2201	4299	6500	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53293763G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.777C>T	12.37:g.53293763G>A						KRT8_ENST00000546897.1_Silent_p.I259I|KRT8_ENST00000552150.1_Silent_p.I287I|KRT8_ENST00000293308.6_Silent_p.I259I	p.I259I			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1209	-			259			Linker 12.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.777C>T	CCDS8841.1																																																																																				0.582	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		19	60	0	0	0	1	0	19	60				
PRSS58	136541	broad.mit.edu	37	7	141955354	141955354	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:141955354C>T	ENST00000552471.1	-	2	499		c.e2+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTATCACTCACGGTAAATTGC	0.502																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.e2+1		protease, serine, 58							74.0	74.0	74.0					7																	141955354		2203	4300	6503	SO:0001630	splice_region_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955354C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.179+1G>A	7.37:g.141955354C>T						PRSS58_ENST00000547058.2_Splice_Site				Q8IYP2	PRS58_HUMAN			2	499	-								B3KVJ6|D3DXD2	Splice_Site	SNP	ENST00000552471.1	37		CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856601	0.71834	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2693	0.82607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141601831	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.803000	0.62546	2.711000	0.92665	0.655000	0.94253	.		0.502	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Intron	21	58	0	0	0	1	0	21	58				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	21	0	0	0	1	0	5	21				
EWSR1	2130	broad.mit.edu	37	22	29693822	29693822	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:29693822G>C	ENST00000397938.2	+	13	1619	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	EWSR1_ENST00000332035.6_Missense_Mutation_p.D378H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D433H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D396H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D361H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D439H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	434	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCAGGGAAAGATTTTCAAGG	0.502			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1300-1302)Gat>Cat		EWS RNA-binding protein 1							94.0	90.0	91.0					22																	29693822		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29693822G>C		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1300G>C	22.37:g.29693822G>C	ENSP00000381031:p.Asp434His					EWSR1_ENST00000332035.6_Missense_Mutation_p.D378H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D439H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D361H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D396H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D433H	p.D434H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			13	1619	+			434			RRM.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1300G>C	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.309667|4.309667	0.81247|0.81247	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	T;T;T;T;T;T|.	0.07444|.	3.19;3.19;3.19;3.19;3.19;3.19|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.060734|.	0.64402|.	U|.	0.000006|.	T|T	0.72260|0.72260	0.3438|0.3438	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	B;B;B;D;B|.	0.76494|.	0.382;0.404;0.382;0.999;0.404|.	P;P;P;D;P|.	0.73708|.	0.806;0.871;0.806;0.981;0.871|.	T|T	0.67825|0.67825	-0.5570|-0.5570	10|5	0.87932|.	D|.	0|.	.|.	19.6214|19.6214	0.95658|0.95658	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	378;433;378;439;434|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	H|T	361;434;433;396;439;378|89	ENSP00000330896:D361H;ENSP00000381031:D434H;ENSP00000385726:D433H;ENSP00000330516:D396H;ENSP00000400142:D439H;ENSP00000331699:D378H|.	ENSP00000330516:D396H|.	D|R	+|+	1|2	0|0	EWSR1|EWSR1	28023822|28023822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.644000|0.644000	0.38419|0.38419	8.557000|8.557000	0.90700|0.90700	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.502	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		17	40	0	0	0	1	0	17	40				
MAP3K19	80122	broad.mit.edu	37	2	135744048	135744048	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:135744048C>G	ENST00000375845.3	-	7	2424	c.2394G>C	c.(2392-2394)caG>caC	p.Q798H	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	798							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGAATTCATTCTGTTTCATGG	0.393																																						ENST00000375845.3																			0											c.(2392-2394)caG>caC		mitogen-activated protein kinase kinase kinase 19							68.0	67.0	67.0					2																	135744048		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744048C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2394G>C	2.37:g.135744048C>G	ENSP00000365005:p.Gln798His					MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H|MAP3K19_ENST00000315513.3_5'UTR	p.Q798H	NM_025052.3	NP_079328.3					7	2424	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2394G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356835	0.24598	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.74842	-0.87;-0.82;1.49;-0.88	4.87	3.97	0.46021	.	0.157345	0.30060	N	0.010519	T	0.65801	0.2726	L	0.47190	1.495	0.80722	D	1	B;D;B	0.55385	0.368;0.971;0.405	B;P;B	0.45406	0.15;0.479;0.199	T	0.66594	-0.5884	10	0.59425	D	0.04	.	3.7799	0.08676	0.0:0.5673:0.2282:0.2045	.	685;815;798	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	798;685;815;188	ENSP00000365005:Q798H;ENSP00000351140:Q685H;ENSP00000376647:Q815H;ENSP00000392827:Q188H	ENSP00000351140:Q685H	Q	-	3	2	YSK4	135460518	1.000000	0.71417	0.843000	0.33291	0.042000	0.13812	1.556000	0.36288	1.226000	0.43582	0.462000	0.41574	CAG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		7	56	0	0	0	1	0	7	56				
DGCR8	54487	broad.mit.edu	37	22	20074123	20074123	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:20074123G>A	ENST00000351989.3	+	2	1066	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E213K|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.E213K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	213	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGAGCTAGATGAAGAAGGAGC	0.473																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(637-639)Gaa>Aaa		DGCR8 microprocessor complex subunit							126.0	138.0	134.0					22																	20074123		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074123G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.637G>A	22.37:g.20074123G>A	ENSP00000263209:p.Glu213Lys					DGCR8_ENST00000383024.2_Missense_Mutation_p.E213K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E213K	p.E213K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	1066	+	Colorectal(54;0.0993)		213			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.637G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849887	0.71603	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35605	1.33;1.3;1.3	5.42	5.42	0.78866	.	0.044625	0.85682	D	0.000000	T	0.40448	0.1117	L	0.47716	1.5	0.80722	D	1	P;P	0.44139	0.827;0.734	B;B	0.44133	0.442;0.257	T	0.14420	-1.0473	10	0.45353	T	0.12	-19.3615	18.9993	0.92826	0.0:0.0:1.0:0.0	.	213;213	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	213	ENSP00000263209:E213K;ENSP00000372488:E213K;ENSP00000384726:E213K	ENSP00000263209:E213K	E	+	1	0	DGCR8	18454123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	2.826000	0.97356	0.491000	0.48974	GAA		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			29	83	0	0	0	1	0	29	83				
LTN1	26046	broad.mit.edu	37	21	30308938	30308938	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:30308938C>G	ENST00000361371.5	-	26	4643	c.4564G>C	c.(4564-4566)Gaa>Caa	p.E1522Q	LTN1_ENST00000389194.2_Missense_Mutation_p.E1568Q			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1522					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTTGGATTTTCTGGCATAAGC	0.423																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4564-4566)Gaa>Caa		listerin E3 ubiquitin protein ligase 1							261.0	267.0	265.0					21																	30308938		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30308938C>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4564G>C	21.37:g.30308938C>G	ENSP00000354977:p.Glu1522Gln					LTN1_ENST00000389194.2_Missense_Mutation_p.E1568Q	p.E1522Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			26	4714	-			1522					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.4564G>C		.	.	.	.	.	.	.	.	.	.	C	15.33	2.801438	0.50315	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19806	2.12;2.13	5.22	4.29	0.51040	.	0.152620	0.64402	D	0.000019	T	0.11452	0.0279	N	0.11560	0.145	0.49915	D	0.999835	B	0.22414	0.069	B	0.19148	0.024	T	0.15093	-1.0449	10	0.18710	T	0.47	.	14.5203	0.67847	0.0:0.7293:0.2707:0.0	.	1522	O94822	LTN1_HUMAN	Q	1568;1522	ENSP00000373846:E1568Q;ENSP00000354977:E1522Q	ENSP00000354977:E1522Q	E	-	1	0	LTN1	29230809	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.734000	0.55037	2.703000	0.92315	0.655000	0.94253	GAA		0.423	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		7	293	0	0	0	1	0	7	293				
PCDHA5	56143	broad.mit.edu	37	5	140203272	140203272	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140203272G>A	ENST00000529859.1	+	1	1912	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	PCDHA5_ENST00000378126.3_Missense_Mutation_p.E638K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E638K|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	638	Cadherin 6. {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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTGGATGAGACCGAAGC	0.637																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1912-1914)Gag>Aag									71.0	76.0	74.0					5																	140203272		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140203272G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1912G>A	5.37:g.140203272G>A	ENSP00000436557:p.Glu638Lys					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E638K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E638K|PCDHA1_ENST00000394633.3_Intron	p.E638K	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1912	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1912G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913050	0.92178	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.50813	0.73;0.73;0.73	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69762	0.3147	M	0.91872	3.25	0.37296	D	0.908494	D;P;P	0.59357	0.985;0.95;0.95	P;P;P	0.55260	0.772;0.743;0.743	T	0.83037	-0.0159	9	0.87932	D	0	.	16.549	0.84458	0.0:0.0:1.0:0.0	.	638;638;638	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	638	ENSP00000433416:E638K;ENSP00000436557:E638K;ENSP00000367366:E638K	ENSP00000367366:E638K	E	+	1	0	PCDHA5	140183456	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	3.421000	0.52742	1.978000	0.57642	0.306000	0.20318	GAG		0.637	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		18	135	0	0	0	1	0	18	135				
EXPH5	23086	broad.mit.edu	37	11	108380744	108380744	+	Silent	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:108380744C>G	ENST00000265843.4	-	6	5600	c.5490G>C	c.(5488-5490)ctG>ctC	p.L1830L	EXPH5_ENST00000443411.1_Silent_p.L1642L|EXPH5_ENST00000428840.1_Silent_p.L1754L|EXPH5_ENST00000525344.1_Silent_p.L1823L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1830					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGTCGACTCAGGGCATTGT	0.423																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5488-5490)ctG>ctC		exophilin 5							64.0	65.0	65.0					11																	108380744		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380744C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5490G>C	11.37:g.108380744C>G						EXPH5_ENST00000443411.1_Silent_p.L1642L|EXPH5_ENST00000525344.1_Silent_p.L1823L|EXPH5_ENST00000428840.1_Silent_p.L1754L	p.L1830L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5600	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1830					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.5490G>C	CCDS8341.1																																																																																				0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		25	38	0	0	0	1	0	25	38				
PGD	5226	broad.mit.edu	37	1	10479725	10479725	+	Silent	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:10479725C>G	ENST00000270776.8	+	13	1409	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	PGD_ENST00000538557.1_Silent_p.L444L|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.L435L	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	457					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CCTATGAACTCTTGGCCAAAC	0.582																																						ENST00000538557.1																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14						c.(1330-1332)ctC>ctG		phosphogluconate dehydrogenase							168.0	144.0	152.0					1																	10479725		2203	4300	6503	SO:0001819	synonymous_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10479725C>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1371C>G	1.37:g.10479725C>G						PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Silent_p.L457L|PGD_ENST00000541529.1_Silent_p.L435L	p.L444L			P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	13	1576	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	457					A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	c.1332C>G	CCDS113.1																																																																																				0.582	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		5	105	0	0	0	1	0	5	105				
GEMIN5	25929	broad.mit.edu	37	5	154268973	154268973	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:154268973C>T	ENST00000285873.7	-	27	4342	c.4267G>A	c.(4267-4269)Gaa>Aaa	p.E1423K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1423					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTTTTCTTCTTTACTAGTG	0.348																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4267-4269)Gaa>Aaa		gem (nuclear organelle) associated protein 5							65.0	66.0	65.0					5																	154268973		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154268973C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4267G>A	5.37:g.154268973C>T	ENSP00000285873:p.Glu1423Lys						p.E1423K	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		27	4342	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1423					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.4267G>A	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694012	0.48202	.	.	ENSG00000082516	ENST00000285873	T	0.70869	-0.52	5.79	3.99	0.46301	.	0.640530	0.16537	N	0.210131	T	0.59569	0.2203	L	0.36672	1.1	0.34535	D	0.70966	B;B	0.13145	0.007;0.007	B;B	0.14023	0.01;0.01	T	0.61642	-0.7021	10	0.45353	T	0.12	-12.3295	9.3985	0.38417	0.0:0.7797:0.1446:0.0757	.	1422;1423	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	K	1423	ENSP00000285873:E1423K	ENSP00000285873:E1423K	E	-	1	0	GEMIN5	154249166	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.411000	0.34702	0.777000	0.33496	0.650000	0.86243	GAA		0.348	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			16	43	0	0	0	1	0	16	43				
DHRS11	79154	broad.mit.edu	37	17	34951448	34951448	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:34951448C>T	ENST00000251312.5	+	2	407	c.195C>T	c.(193-195)atC>atT	p.I65I	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	65						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GGACTTTGATCCCCTACAGAT	0.532																																						ENST00000251312.5																			0				endometrium(1)|lung(4)	5						c.(193-195)atC>atT		dehydrogenase/reductase (SDR family) member 11							110.0	101.0	104.0					17																	34951448		2203	4300	6503	SO:0001819	synonymous_variant	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951448C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.195C>T	17.37:g.34951448C>T						DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	p.I65I	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN			2	407	+			65					B2RDZ3|Q9BUC7|Q9H674	Silent	SNP	ENST00000251312.5	37	c.195C>T	CCDS11315.2																																																																																				0.532	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		25	49	0	0	0	1	0	25	49				
DYSF	8291	broad.mit.edu	37	2	71840496	71840496	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:71840496G>A	ENST00000258104.3	+	40	4643	c.4366G>A	c.(4366-4368)Gtg>Atg	p.V1456M	DYSF_ENST00000409651.1_Missense_Mutation_p.V1488M|DYSF_ENST00000410041.1_Missense_Mutation_p.V1474M|DYSF_ENST00000413539.2_Missense_Mutation_p.V1487M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.V1443M|DYSF_ENST00000409762.1_Missense_Mutation_p.V1473M|DYSF_ENST00000410020.3_Missense_Mutation_p.V1474M|DYSF_ENST00000409582.3_Missense_Mutation_p.V1473M|DYSF_ENST00000429174.2_Missense_Mutation_p.V1456M|DYSF_ENST00000394120.2_Missense_Mutation_p.V1457M|DYSF_ENST00000409366.1_Missense_Mutation_p.V1457M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1456					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGGGAAGACGTGCTCATCGA	0.612																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4366-4368)Gtg>Atg		dysferlin							68.0	51.0	57.0					2																	71840496		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71840496G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4366G>A	2.37:g.71840496G>A	ENSP00000258104:p.Val1456Met					DYSF_ENST00000429174.2_Missense_Mutation_p.V1456M|DYSF_ENST00000413539.2_Missense_Mutation_p.V1487M|DYSF_ENST00000410020.3_Missense_Mutation_p.V1474M|DYSF_ENST00000410041.1_Missense_Mutation_p.V1474M|DYSF_ENST00000409744.1_Missense_Mutation_p.V1443M|DYSF_ENST00000409762.1_Missense_Mutation_p.V1473M|DYSF_ENST00000409651.1_Missense_Mutation_p.V1488M|DYSF_ENST00000409582.3_Missense_Mutation_p.V1473M|DYSF_ENST00000409366.1_Missense_Mutation_p.V1457M|DYSF_ENST00000394120.2_Missense_Mutation_p.V1457M|DYSF_ENST00000479049.2_3'UTR	p.V1456M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			40	4643	+			1456					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4366G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326310	0.81580	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84146	-1.8;-1.81;-1.79;-1.79;-1.81;-1.8;-1.81;-1.79;-1.78;-1.79;-1.81	5.12	5.12	0.69794	.	0.124826	0.53938	D	0.000052	D	0.90659	0.7070	M	0.62723	1.935	0.50467	D	0.999878	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.938;1.0;1.0;1.0;0.999;0.993;0.993;0.996;0.993;0.999;0.999;0.999;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.71414	0.721;0.973;0.97;0.97;0.956;0.939;0.939;0.939;0.939;0.956;0.955;0.938;0.973;0.97;0.933	D	0.90391	0.4395	10	0.48119	T	0.1	-26.7124	16.4177	0.83748	0.0:0.0:1.0:0.0	.	199;1488;1474;1457;1443;1474;1443;1473;1442;1487;1473;1456;1442;1457;1456	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	1487;1473;1473;1456;1456;1488;1457;1443;1457;1474;1474	ENSP00000407046:V1487M;ENSP00000387137:V1473M;ENSP00000386547:V1473M;ENSP00000398305:V1456M;ENSP00000258104:V1456M;ENSP00000386683:V1488M;ENSP00000377678:V1457M;ENSP00000386285:V1443M;ENSP00000386512:V1457M;ENSP00000386881:V1474M;ENSP00000386617:V1474M	ENSP00000258104:V1456M	V	+	1	0	DYSF	71694004	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.449000	0.73473	2.576000	0.86940	0.561000	0.74099	GTG		0.612	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	10	0	0	0	1	0	9	10				
AHDC1	27245	broad.mit.edu	37	1	27874638	27874638	+	Nonsense_Mutation	SNP	G	G	T	rs199659346		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:27874638G>T	ENST00000247087.5	-	5	4585	c.3989C>A	c.(3988-3990)tCg>tAg	p.S1330*	AHDC1_ENST00000374011.2_Nonsense_Mutation_p.S1330*			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1330							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAAGGCCCTCGACTGTGAGGG	0.612																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3988-3990)tCg>tAg		AT hook, DNA binding motif, containing 1							83.0	71.0	75.0					1																	27874638		2203	4300	6503	SO:0001587	stop_gained	27245						DNA binding	g.chr1:27874638G>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3989C>A	1.37:g.27874638G>T	ENSP00000247087:p.Ser1330*					AHDC1_ENST00000247087.5_Nonsense_Mutation_p.S1330*|AHDC1_ENST00000482400.2_Intron	p.S1330*	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4957	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1330					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Nonsense_Mutation	SNP	ENST00000247087.5	37	c.3989C>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	47	13.291300	0.99732	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	.	.	.	5.69	5.69	0.88448	.	0.178054	0.35970	N	0.002870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8189	18.5868	0.91192	0.0:0.0:1.0:0.0	.	.	.	.	X	1330	.	ENSP00000247087:S1330X	S	-	2	0	AHDC1	27747225	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	5.806000	0.69150	2.699000	0.92147	0.655000	0.94253	TCG		0.612	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			25	40	1	0	3.08376e-08	1	3.17145e-08	25	40				
GPC1	2817	broad.mit.edu	37	2	241404610	241404610	+	Silent	SNP	C	C	T	rs372989599		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:241404610C>T	ENST00000264039.2	+	7	1499	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	417					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCTGGAACGGGATGGCCA	0.667																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(1249-1251)aaC>aaT		glypican 1		C		0,4398		0,0,2199	30.0	31.0	31.0		1251	-7.2	0.0	2		31	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GPC1	NM_002081.2		0,3,6496	TT,TC,CC		0.0349,0.0,0.0231		417/559	241404610	3,12995	2199	4300	6499	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241404610C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1251C>T	2.37:g.241404610C>T							p.N417N	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	7	1499	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	417					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.1251C>T	CCDS2534.1	.	.	.	.	.	.	.	.	.	.	C	5.627	0.300346	0.10678	0.0	3.49E-4	ENSG00000063660	ENST00000420138;ENST00000455111	.	.	.	4.13	-7.16	0.01516	.	.	.	.	.	T	0.49966	0.1588	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54622	-0.8266	4	.	.	.	-26.5692	9.4697	0.38835	0.1206:0.1415:0.0:0.738	.	.	.	.	W	457;169	.	.	R	+	1	2	GPC1	241053283	0.000000	0.05858	0.010000	0.14722	0.938000	0.57974	-1.818000	0.01717	-1.581000	0.01642	-0.469000	0.05056	CGG		0.667	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		10	24	0	0	0	1	0	10	24				
ZNF324	25799	broad.mit.edu	37	19	58982230	58982230	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:58982230G>A	ENST00000536459.2	+	4	1080	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF324_ENST00000196482.3_Missense_Mutation_p.R124K|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	124					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCCTGCAGAGACAACGGGGT	0.602																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(370-372)aGa>aAa		zinc finger protein 324							94.0	101.0	99.0					19																	58982230		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982230G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.371G>A	19.37:g.58982230G>A	ENSP00000444812:p.Arg124Lys					ZNF324_ENST00000196482.3_Missense_Mutation_p.R124K	p.R124K			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1080	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	124					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.371G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	1.406	-0.576758	0.03854	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06218	3.33;3.33	3.21	2.16	0.27623	.	0.523268	0.14467	N	0.317808	T	0.03136	0.0092	N	0.14661	0.345	0.19775	N	0.999958	B	0.12013	0.005	B	0.09377	0.004	T	0.46707	-0.9172	10	0.08599	T	0.76	.	6.5167	0.22252	0.1359:0.0:0.8641:0.0	.	124	O75467	Z324A_HUMAN	K	124;124;124;114	ENSP00000196482:R124K;ENSP00000444812:R124K	ENSP00000196482:R124K	R	+	2	0	ZNF324	63674042	0.007000	0.16637	0.009000	0.14445	0.014000	0.08584	1.450000	0.35134	0.912000	0.36772	0.455000	0.32223	AGA		0.602	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		35	96	0	0	0	1	0	35	96				
SNHG14	104472715	broad.mit.edu	37	15	25440081	25440081	+	RNA	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:25440081G>A	ENST00000424208.1	+	0	1460				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCGATGATGAGAAACTTATAT	0.527																																						ENST00000424208.1																			0																				326.0	333.0	331.0					15																	25440081		876	1991	2867			104472715							g.chr15:25440081G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25440081G>A						SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1460	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	273	0	0	0	1	0	13	273				
SCNN1A	6337	broad.mit.edu	37	12	6471399	6471399	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:6471399C>T	ENST00000228916.2	-	4	791	c.693G>A	c.(691-693)caG>caA	p.Q231Q	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000543768.1_Silent_p.Q254Q|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Silent_p.Q290Q|SCNN1A_ENST00000358945.3_Silent_p.Q231Q|SCNN1A_ENST00000396966.2_Silent_p.Q231Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	231					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGATTTGTTCTGGTTGCACT	0.562																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(691-693)caG>caA		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						145.0	103.0	117.0					12																	6471399		2203	4300	6503	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6471399C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.693G>A	12.37:g.6471399C>T						SCNN1A_ENST00000543768.1_Silent_p.Q254Q|SCNN1A_ENST00000396966.2_Silent_p.Q231Q|SCNN1A_ENST00000360168.3_Silent_p.Q290Q|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000228916.2_Silent_p.Q231Q|SCNN1A_ENST00000538979.1_Intron	p.Q231Q			P37088	SCNNA_HUMAN			3	1133	-			231					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.693G>A	CCDS8543.1																																																																																				0.562	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			33	68	0	0	0	1	0	33	68				
FLOT2	2319	broad.mit.edu	37	17	27209406	27209406	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:27209406C>G	ENST00000394908.4	-	6	632	c.528G>C	c.(526-528)caG>caC	p.Q176H	FLOT2_ENST00000394906.2_Missense_Mutation_p.Q231H|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.Q176H	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	176					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAGCATCTCTCTGCACCACGG	0.587																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(691-693)caG>caC		flotillin 2							53.0	56.0	55.0					17																	27209406		2203	4293	6496	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209406C>G	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.528G>C	17.37:g.27209406C>G	ENSP00000378368:p.Gln176His					FLOT2_ENST00000585169.1_Missense_Mutation_p.Q176H|FLOT2_ENST00000394908.4_Missense_Mutation_p.Q176H|FLOT2_ENST00000577789.1_5'UTR	p.Q231H			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		8	770	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		176						Missense_Mutation	SNP	ENST00000394908.4	37	c.693G>C	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163917	0.57476	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	D;D	0.95035	-3.59;-3.59	5.69	1.53	0.23141	.	0.109676	0.64402	D	0.000005	D	0.94169	0.8129	L	0.58510	1.815	0.39245	D	0.963926	P	0.37176	0.586	P	0.49637	0.617	D	0.92103	0.5690	10	0.72032	D	0.01	-21.9507	8.9311	0.35670	0.0:0.605:0.0:0.395	.	176	Q14254	FLOT2_HUMAN	H	231;176	ENSP00000378366:Q231H;ENSP00000378368:Q176H	ENSP00000378366:Q231H	Q	-	3	2	FLOT2	24233532	0.996000	0.38824	0.994000	0.49952	0.498000	0.33706	0.549000	0.23329	0.084000	0.17077	0.313000	0.20887	CAG		0.587	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		4	56	0	0	0	1	0	4	56				
AKAP7	9465	broad.mit.edu	37	6	131571736	131571736	+	Intron	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr6:131571736C>G	ENST00000431975.2	+	7	948				AKAP7_ENST00000474850.2_Nonsense_Mutation_p.S10*|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000342266.4_Nonsense_Mutation_p.S10*|AKAP7_ENST00000368123.4_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7							cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTTCCTTTCTCAAGAGATGAA	0.448																																						ENST00000342266.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(28-30)tCa>tGa		A kinase (PRKA) anchor protein 7							117.0	122.0	120.0					6																	131571736		2203	4300	6503	SO:0001627	intron_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131571736C>G	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.850+30788C>G	6.37:g.131571736C>G						AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000474850.2_Nonsense_Mutation_p.S10*|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron	p.S10*	NM_004842.3	NP_004833.1	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	1	438	+	Breast(56;0.152)		10			Required for membrane localization.		B4DUC3|Q9HCZ8	Nonsense_Mutation	SNP	ENST00000431975.2	37	c.29C>G	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	C	39	7.418015	0.98272	.	.	ENSG00000118507	ENST00000342266;ENST00000474850	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.7603	0.88462	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000345149:S10X	S	+	2	0	AKAP7	131613429	0.996000	0.38824	0.961000	0.40146	0.997000	0.91878	3.675000	0.54605	2.786000	0.95864	0.561000	0.74099	TCA		0.448	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		6	60	0	0	0	1	0	6	60				
KIAA1549L	25758	broad.mit.edu	37	11	33565363	33565363	+	Missense_Mutation	SNP	G	G	A	rs61736871		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:33565363G>A	ENST00000321505.4	+	1	1543	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D455N|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D455N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	455						integral component of membrane (GO:0016021)											TTCAGCTGCCGATGCCATAAA	0.423											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(1363-1365)Gat>Aat		KIAA1549-like							128.0	124.0	125.0					11																	33565363		1856	4110	5966	SO:0001583	missense	25758							g.chr11:33565363G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1363G>A	11.37:g.33565363G>A	ENSP00000315295:p.Asp455Asn		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D455N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D455N	p.D455N							1	1543	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1363G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186278	0.01620	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.5	0.542	0.17174	.	1.412180	0.04240	N	0.336792	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31475	-0.9942	9	0.07325	T	0.83	5.7152	5.4747	0.16690	0.5589:0.1393:0.3018:0.0	rs61736871	455;455	E9PAT2;Q6ZVL6-2	.;.	N	455;455;455;295	.	ENSP00000265654:D455N	D	+	1	0	C11orf41	33521939	0.000000	0.05858	0.005000	0.12908	0.864000	0.49448	0.419000	0.21247	-0.145000	0.11294	-0.542000	0.04241	GAT		0.423	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		53	122	0	0	0	1	0	53	122				
CYP51A1	1595	broad.mit.edu	37	7	91753166	91753166	+	Splice_Site	SNP	G	G	A	rs200921006		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:91753166G>A	ENST00000003100.8	-	6	937	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CYP51A1_ENST00000450723.1_Splice_Site_p.R153C|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	252					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTGTCCCTGCGTCTGTAATTA	0.343																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.e6-1		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	G	CYS/ARG,CYS/ARG	1,4405		0,1,2202	65.0	62.0	63.0		772,457	5.7	1.0	7		63	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice	CYP51A1	NM_000786.3,NM_001146152.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	258/510,153/405	91753166	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91753166G>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.771-1C>T	7.37:g.91753166G>A						CYP51A1_ENST00000450723.1_Splice_Site_p.R153_splice|LRRD1_ENST00000422722.1_5'UTR	p.R258_splice	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	937	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		252					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Splice_Site	SNP	ENST00000003100.8	37	c.770_splice	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664077	0.67700	2.27E-4	0.0	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	D;D	0.86432	-2.12;-2.12	5.74	5.74	0.90152	.	0.090030	0.85682	D	0.000000	D	0.94056	0.8095	M	0.90595	3.13	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.57776	0.774;0.827	D	0.94705	0.7887	10	0.87932	D	0	.	19.9173	0.97066	0.0:0.0:1.0:0.0	.	198;252	B3KRC6;Q16850	.;CP51A_HUMAN	C	258;198;153	ENSP00000003100:R258C;ENSP00000406757:R153C	ENSP00000003100:R258C	R	-	1	0	CYP51A1	91591102	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	5.518000	0.67068	2.707000	0.92482	0.563000	0.77884	CGC		0.343	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4		Missense_Mutation	12	24	0	0	0	1	0	12	24				
SLC14A2	8170	broad.mit.edu	37	18	43221255	43221255	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:43221255G>A	ENST00000255226.6	+	8	1889	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G358E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	358					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGCCATCGGAGGCATGTTC	0.552																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1072-1074)gGa>gAa		solute carrier family 14 (urea transporter), member 2							145.0	101.0	116.0					18																	43221255		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43221255G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1073G>A	18.37:g.43221255G>A	ENSP00000255226:p.Gly358Glu					SLC14A2_ENST00000586448.1_Missense_Mutation_p.G358E	p.G358E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			8	1889	+			358					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1073G>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360114	0.95877	.	.	ENSG00000132874	ENST00000255226	T	0.59906	0.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87677	0.2545	10	0.87932	D	0	-20.1692	20.0086	0.97443	0.0:0.0:1.0:0.0	.	358	Q15849	UT2_HUMAN	E	358	ENSP00000255226:G358E	ENSP00000255226:G358E	G	+	2	0	SLC14A2	41475253	1.000000	0.71417	0.657000	0.29651	0.956000	0.61745	9.404000	0.97306	2.731000	0.93534	0.655000	0.94253	GGA		0.552	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			24	38	0	0	0	1	0	24	38				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	26	0	0	0	1	0	5	26				
USP1	7398	broad.mit.edu	37	1	62913122	62913122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:62913122C>T	ENST00000339950.4	+	7	2175	c.1360C>T	c.(1360-1362)Caa>Taa	p.Q454*	USP1_ENST00000371146.1_Nonsense_Mutation_p.Q454*	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	454	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGAAGATTTTCAAGACATCAG	0.388																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1360-1362)Caa>Taa		ubiquitin specific peptidase 1							119.0	118.0	118.0					1																	62913122		2203	4300	6503	SO:0001587	stop_gained	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62913122C>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1360C>T	1.37:g.62913122C>T	ENSP00000343526:p.Gln454*					USP1_ENST00000371146.1_Nonsense_Mutation_p.Q454*	p.Q454*	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	7	2175	+		all_neural(321;0.0281)	454					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Nonsense_Mutation	SNP	ENST00000339950.4	37	c.1360C>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	41	8.706431	0.98922	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	.	.	.	5.79	5.79	0.91817	.	0.055445	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-8.4135	20.0349	0.97554	0.0:1.0:0.0:0.0	.	.	.	.	X	454	.	ENSP00000343526:Q454X	Q	+	1	0	USP1	62685710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.342000	0.79310	2.744000	0.94065	0.650000	0.86243	CAA		0.388	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		15	28	0	0	0	1	0	15	28				
CEP76	79959	broad.mit.edu	37	18	12697318	12697318	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:12697318C>T	ENST00000262127.2	-	5	835	c.610G>A	c.(610-612)Gag>Aag	p.E204K	CEP76_ENST00000586887.1_5'Flank|CEP76_ENST00000423709.2_Missense_Mutation_p.E129K|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	204					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGTCGTCTCACCAAATATG	0.388																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(610-612)Gag>Aag		centrosomal protein 76kDa							166.0	131.0	143.0					18																	12697318		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12697318C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.610G>A	18.37:g.12697318C>T	ENSP00000262127:p.Glu204Lys					RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.E129K	p.E204K	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			5	835	-			204					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.610G>A	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957523	0.53400	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;D	0.90504	-1.31;-2.68	5.52	5.52	0.82312	.	0.045304	0.85682	D	0.000000	D	0.85287	0.5662	L	0.31664	0.95	0.80722	D	1	B;B;B	0.24823	0.063;0.112;0.023	B;B;B	0.24701	0.055;0.032;0.022	T	0.80464	-0.1371	10	0.08599	T	0.76	0.2187	19.8025	0.96515	0.0:1.0:0.0:0.0	.	129;204;26	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	K	204;129	ENSP00000262127:E204K;ENSP00000403074:E129K	ENSP00000262127:E204K	E	-	1	0	CEP76	12687318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.029000	0.70895	2.762000	0.94881	0.467000	0.42956	GAG		0.388	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		24	48	0	0	0	1	0	24	48				
LTN1	26046	broad.mit.edu	37	21	30308975	30308975	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:30308975C>T	ENST00000361371.5	-	26	4606	c.4527G>A	c.(4525-4527)ttG>ttA	p.L1509L	LTN1_ENST00000389194.2_Silent_p.L1555L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1509					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAATTTATTCAAACTCTTTG	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4525-4527)ttG>ttA		listerin E3 ubiquitin protein ligase 1							235.0	241.0	239.0					21																	30308975		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30308975C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4527G>A	21.37:g.30308975C>T						LTN1_ENST00000389194.2_Silent_p.L1555L	p.L1509L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			26	4677	-			1509					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.4527G>A																																																																																					0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		6	283	0	0	0	1	0	6	283				
MEGF11	84465	broad.mit.edu	37	15	66191233	66191233	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:66191233G>A	ENST00000409699.2	-	22	2979	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	MEGF11_ENST00000395625.2_Missense_Mutation_p.S861F|MEGF11_ENST00000422354.1_Missense_Mutation_p.S936F|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.S861F			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	936					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTATTCAAGGAACAAGTACT	0.428																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2806-2808)tCc>tTc		multiple EGF-like-domains 11							132.0	121.0	125.0					15																	66191233		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66191233G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2807C>T	15.37:g.66191233G>A	ENSP00000386908:p.Ser936Phe					MEGF11_ENST00000288745.3_Missense_Mutation_p.S861F|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.S861F|MEGF11_ENST00000422354.1_Missense_Mutation_p.S936F	p.S936F			A6BM72	MEG11_HUMAN			22	2979	-			936					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2807C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680421	0.68042	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.92965	-3.14;-3.02;-3.14;-3.02	5.35	5.35	0.76521	.	0.000000	0.40554	U	0.001074	D	0.92273	0.7549	M	0.73962	2.25	0.80722	D	1	P;B	0.47841	0.901;0.001	B;B	0.41764	0.366;0.003	D	0.92686	0.6162	10	0.51188	T	0.08	.	19.2576	0.93952	0.0:0.0:1.0:0.0	.	936;861	A6BM72;A6BM72-2	MEG11_HUMAN;.	F	936;861;936;861	ENSP00000386908:S936F;ENSP00000288745:S861F;ENSP00000414475:S936F;ENSP00000378987:S861F	ENSP00000288745:S861F	S	-	2	0	MEGF11	63978287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.122000	0.94380	2.789000	0.95967	0.655000	0.94253	TCC		0.428	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		4	62	0	0	0	1	0	4	62				
FIP1L1	81608	broad.mit.edu	37	4	54257190	54257190	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:54257190G>A	ENST00000337488.6	+	8	714	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D174N|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D159N|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D159N|FIP1L1_ENST00000358575.5_Missense_Mutation_p.D159N	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	174	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGATCTTTCTGATTATTTTAA	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(520-522)Gat>Aat		factor interacting with PAPOLA and CPSF1							63.0	70.0	67.0					4																	54257190		2202	4295	6497	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54257190G>A	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.520G>A	4.37:g.54257190G>A	ENSP00000336752:p.Asp174Asn					FIP1L1_ENST00000337488.6_Missense_Mutation_p.D174N|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D159N|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D159N|FIP1L1_ENST00000358575.5_Missense_Mutation_p.D159N	p.D174N			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	520	+			174			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.520G>A	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777215	0.90195	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	D	0.94687	-3.49	5.72	5.72	0.89469	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.987;1.0;0.999	D	0.98737	1.0715	10	0.87932	D	0	-15.505	19.88	0.96892	0.0:0.0:1.0:0.0	.	159;159;174;159	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	N	174;159;159;159;174	ENSP00000423325:D174N	ENSP00000302993:D159N	D	+	1	0	FIP1L1	53951947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.703000	0.92315	0.655000	0.94253	GAT		0.294	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		13	43	0	0	0	1	0	13	43				
AGTPBP1	23287	broad.mit.edu	37	9	88270061	88270061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:88270061C>A	ENST00000357081.3	-	11	1228	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.E374*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.E200*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.E322*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000491784.1_5'Flank			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	362					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATCCTACCTTCAGGAGGTAAG	0.423																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1084-1086)Gaa>Taa		ATP/GTP binding protein 1							58.0	54.0	55.0					9																	88270061		2203	4300	6503	SO:0001587	stop_gained	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88270061C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1084G>T	9.37:g.88270061C>A	ENSP00000349592:p.Glu362*					AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.E374*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.E200*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.E322*	p.E362*			Q9UPW5	CBPC1_HUMAN			11	1228	-			362					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37	c.1084G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.746767	0.97809	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	.	.	.	5.61	5.61	0.85477	.	0.206931	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	.	.	.	X	362;322;374;200	.	ENSP00000349592:E362X	E	-	1	0	AGTPBP1	87459881	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.005000	0.70716	2.629000	0.89072	0.650000	0.86243	GAA		0.423	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		6	26	1	0	8.12818e-05	1	8.16581e-05	6	26				
SMARCAL1	50485	broad.mit.edu	37	2	217279495	217279495	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:217279495G>A	ENST00000357276.4	+	3	398	c.68G>A	c.(67-69)cGc>cAc	p.R23H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23H|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	23	Mediates interaction with RPA2.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCTCTGGCCCGCAGAGCTGAG	0.493									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(67-69)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							93.0	106.0	102.0					2																	217279495		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279495G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.68G>A	2.37:g.217279495G>A	ENSP00000349823:p.Arg23His					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23H	p.R23H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	398	+		Renal(323;0.0458)	23					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.68G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717263	0.89205	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	L	0.27053	0.805	0.42318	D	0.992246	D	0.89917	1.0	D	0.85130	0.997	T	0.32824	-0.9892	10	0.87932	D	0	-10.2228	18.2606	0.90034	0.0:0.0:1.0:0.0	.	23	Q9NZC9	SMAL1_HUMAN	H	23	ENSP00000405077:R23H;ENSP00000349823:R23H;ENSP00000398969:R23H;ENSP00000350940:R23H;ENSP00000402967:R23H	ENSP00000349823:R23H	R	+	2	0	SMARCAL1	216987740	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.036000	0.76524	2.658000	0.90341	0.563000	0.77884	CGC		0.493	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			4	120	0	0	0	1	0	4	120				
CBX7	23492	broad.mit.edu	37	22	39530551	39530551	+	Silent	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:39530551G>C	ENST00000216133.5	-	5	658	c.453C>G	c.(451-453)ctC>ctG	p.L151L	CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	151					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCTTGCGCGAGAGCCGCAGGT	0.697																																					GBM(46;845 904 3560 9866 23971)	ENST00000216133.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(451-453)ctC>ctG		chromobox homolog 7							18.0	21.0	20.0					22																	39530551		2198	4294	6492	SO:0001819	synonymous_variant	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39530551G>C		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.453C>G	22.37:g.39530551G>C						CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron	p.L151L	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN			5	658	-	Melanoma(58;0.04)		151					Q86T17	Silent	SNP	ENST00000216133.5	37	c.453C>G	CCDS13986.1																																																																																				0.697	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		3	11	0	0	0	1	0	3	11				
LINC00482	284185	broad.mit.edu	37	17	79279518	79279518	+	lincRNA	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:79279518G>A	ENST00000332012.5	-	0	378					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		aggagcacgggaaccaggggg	0.632																																						ENST00000332012.5																			0																				25.0	31.0	29.0					17																	79279518		1101	2151	3252			284185							g.chr17:79279518G>A	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79279518G>A								NR_038080.1						0	378	-									RNA	SNP	ENST00000332012.5	37																																																																																						0.632	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		3	6	0	0	0	1	0	3	6				
UTP20	27340	broad.mit.edu	37	12	101680212	101680212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:101680212G>A	ENST00000261637.4	+	5	614	c.440G>A	c.(439-441)tGg>tAg	p.W147*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	147					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTTAGAATGGGCTTTCACC	0.433																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(439-441)tGg>tAg		UTP20, small subunit (SSU) processome component, homolog (yeast)							237.0	230.0	233.0					12																	101680212		2203	4300	6503	SO:0001587	stop_gained	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680212G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.440G>A	12.37:g.101680212G>A	ENSP00000261637:p.Trp147*						p.W147*	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	614	+			147					Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	37	c.440G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	38	6.790895	0.97841	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-8.2328	18.9401	0.92601	0.0:0.0:1.0:0.0	.	.	.	.	X	147	.	ENSP00000261637:W147X	W	+	2	0	UTP20	100204343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.784000	0.99039	2.469000	0.83416	0.557000	0.71058	TGG		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		45	108	0	0	0	1	0	45	108				
TAF1L	138474	broad.mit.edu	37	9	32635509	32635509	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:32635509C>T	ENST00000242310.4	-	1	158	c.69G>A	c.(67-69)tcG>tcA	p.S23S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	23					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCGCTGTCCGAGTCTGACA	0.567																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(67-69)tcG>tcA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							76.0	71.0	73.0					9																	32635509		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635509C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.69G>A	9.37:g.32635509C>T						RP11-555J4.4_ENST00000430787.1_RNA	p.S23S	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	158	-			23					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.69G>A	CCDS35003.1																																																																																				0.567	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	74	0	0	0	1	0	4	74				
CABP5	56344	broad.mit.edu	37	19	48543884	48543884	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:48543884G>A	ENST00000293255.2	-	3	346	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTTGCTGGCCGAGCTCAATCA	0.532																																						ENST00000293255.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(214-216)ctC>ctT		calcium binding protein 5							107.0	79.0	89.0					19																	48543884		2203	4300	6503	SO:0001819	synonymous_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48543884G>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.216C>T	19.37:g.48543884G>A							p.L72L	NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	3	346	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	72			EF-hand 2.		A0AUY4	Silent	SNP	ENST00000293255.2	37	c.216C>T	CCDS12709.1																																																																																				0.532	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		25	45	0	0	0	1	0	25	45				
NLRP1	22861	broad.mit.edu	37	17	5462999	5462999	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:5462999C>T	ENST00000572272.1	-	4	1016	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	NLRP1_ENST00000354411.3_Silent_p.G339G|NLRP1_ENST00000269280.4_Silent_p.G339G|NLRP1_ENST00000345221.3_Silent_p.G339G|NLRP1_ENST00000262467.5_Silent_p.G339G|NLRP1_ENST00000577119.1_Silent_p.G339G|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTGTTGACTTCCCAATTCCAG	0.542																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1015-1017)ggG>ggA		NLR family, pyrin domain containing 1							133.0	137.0	135.0					17																	5462999		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462999C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1017G>A	17.37:g.5462999C>T						NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.G339G|NLRP1_ENST00000269280.4_Silent_p.G339G|NLRP1_ENST00000577119.1_Silent_p.G339G|NLRP1_ENST00000572272.1_Silent_p.G339G|NLRP1_ENST00000262467.5_Silent_p.G339G	p.G339G	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1571	-		Colorectal(1115;3.48e-05)	339			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.1017G>A	CCDS42246.1																																																																																				0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		37	118	0	0	0	1	0	37	118				
ASTN2	23245	broad.mit.edu	37	9	119976943	119976943	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:119976943G>A	ENST00000313400.4	-	3	809	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	ASTN2_ENST00000361209.2_Missense_Mutation_p.R237C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R237C			O75129	ASTN2_HUMAN	astrotactin 2	237					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGATGCGGCGACGCTTCTGC	0.637																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(709-711)Cgc>Tgc		astrotactin 2							55.0	51.0	52.0					9																	119976943		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976943G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.709C>T	9.37:g.119976943G>A	ENSP00000314038:p.Arg237Cys					ASTN2_ENST00000373996.3_Missense_Mutation_p.R237C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R237C	p.R237C			O75129	ASTN2_HUMAN			3	809	-			237					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.709C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991870	0.74703	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.25085	1.98;1.97;1.82	5.51	3.54	0.40534	.	0.154165	0.43110	D	0.000613	T	0.34513	0.0900	N	0.24115	0.695	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.91635	0.997;0.65;0.999	T	0.07065	-1.0792	9	.	.	.	-12.9371	14.0464	0.64708	0.0:0.0:0.7268:0.2732	.	237;237;237	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	237	ENSP00000314038:R237C;ENSP00000363108:R237C;ENSP00000354504:R237C	.	R	-	1	0	ASTN2	119016764	1.000000	0.71417	0.305000	0.25099	0.820000	0.46376	6.639000	0.74314	1.306000	0.44926	0.655000	0.94253	CGC		0.637	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		29	34	0	0	0	1	0	29	34				
MMEL1	79258	broad.mit.edu	37	1	2538439	2538439	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:2538439G>A	ENST00000378412.3	-	7	766	c.605C>T	c.(604-606)gCg>gTg	p.A202V	MMEL1_ENST00000288709.6_Missense_Mutation_p.A193V|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	202						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTGTCCATCGCCACCGGCCA	0.632																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(577-579)gCg>gTg		membrane metallo-endopeptidase-like 1							86.0	80.0	82.0					1																	2538439		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2538439G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.605C>T	1.37:g.2538439G>A	ENSP00000367668:p.Ala202Val					MMEL1_ENST00000378412.3_Missense_Mutation_p.A202V|MMEL1_ENST00000502556.1_Intron	p.A193V	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	7	818	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	202					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.578C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	g	15.29	2.788487	0.49997	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.73047	-0.71;-0.71	4.71	2.84	0.33178	Peptidase M13 (1);	0.260691	0.43919	D	0.000512	T	0.65873	0.2733	L	0.52126	1.63	0.41839	D	0.990113	D	0.53745	0.962	P	0.48873	0.593	T	0.60434	-0.7264	10	0.13853	T	0.58	-8.8002	10.1728	0.42920	0.1635:0.0:0.8365:0.0	.	202	Q495T6	MMEL1_HUMAN	V	193;202	ENSP00000288709:A193V;ENSP00000367668:A202V	ENSP00000288709:A193V	A	-	2	0	MMEL1	2528299	1.000000	0.71417	0.739000	0.30968	0.007000	0.05969	5.294000	0.65687	0.425000	0.26087	-0.126000	0.14955	GCG		0.632	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		37	64	0	0	0	1	0	37	64				
TMC4	147798	broad.mit.edu	37	19	54673360	54673360	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:54673360G>C	ENST00000376591.4	-	3	481	c.350C>G	c.(349-351)tCt>tGt	p.S117C	TMC4_ENST00000301187.4_Missense_Mutation_p.S111C|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	117					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTAGTTCCAGAGCCATAGAC	0.572																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(349-351)tCt>tGt		transmembrane channel-like 4							74.0	69.0	71.0					19																	54673360		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54673360G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.350C>G	19.37:g.54673360G>C	ENSP00000365776:p.Ser117Cys					TMC4_ENST00000301187.4_Missense_Mutation_p.S111C|TMC4_ENST00000476013.2_5'UTR	p.S117C	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			3	481	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		117					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.350C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356450	0.24598	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.78816	2.0;2.0;-1.21	3.81	2.64	0.31445	.	1.203400	0.06355	U	0.710643	T	0.73814	0.3635	L	0.59436	1.845	0.09310	N	0.999997	P;B	0.49358	0.923;0.037	B;B	0.40702	0.338;0.026	T	0.65047	-0.6263	10	0.52906	T	0.07	-9.0776	8.5418	0.33397	0.0:0.2385:0.7615:0.0	.	117;111	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	C	111;117;21	ENSP00000301187:S111C;ENSP00000365776:S117C;ENSP00000416444:S21C	ENSP00000301187:S111C	S	-	2	0	TMC4	59365172	0.065000	0.20965	0.022000	0.16811	0.023000	0.10783	3.906000	0.56340	2.087000	0.62958	0.543000	0.68304	TCT		0.572	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			20	55	0	0	0	1	0	20	55				
CINP	51550	broad.mit.edu	37	14	102825817	102825817	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:102825817T>A	ENST00000216756.6	-	2	155	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	snoU13_ENST00000458912.1_RNA|CINP_ENST00000541568.2_Missense_Mutation_p.T39S|CINP_ENST00000536961.2_Missense_Mutation_p.T54S	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	39					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TCATTGAGGGTTTCCCACTTC	0.373																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(115-117)Acc>Tcc		cyclin-dependent kinase 2 interacting protein							123.0	113.0	117.0					14																	102825817		2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102825817T>A	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.115A>T	14.37:g.102825817T>A	ENSP00000216756:p.Thr39Ser					CINP_ENST00000541568.2_Missense_Mutation_p.T39S|CINP_ENST00000536961.2_Missense_Mutation_p.T54S	p.T39S	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			2	155	-			39					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.115A>T	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	T	9.062	0.994661	0.19043	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.41400	1.02;1.0	5.15	2.69	0.31865	.	0.458359	0.25890	N	0.027636	T	0.21718	0.0523	N	0.20986	0.625	0.21822	N	0.999523	B	0.15141	0.012	B	0.14023	0.01	T	0.28138	-1.0053	10	0.07175	T	0.84	-0.1964	6.2256	0.20706	0.1587:0.0781:0.0:0.7632	.	39	Q9BW66	CINP_HUMAN	S	39;54;39	ENSP00000216756:T39S;ENSP00000442057:T54S	ENSP00000216756:T39S	T	-	1	0	CINP	101895570	0.994000	0.37717	0.869000	0.34112	0.712000	0.41017	0.318000	0.19504	0.243000	0.21327	0.443000	0.29094	ACC		0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		20	41	0	0	0	1	0	20	41				
RASIP1	54922	broad.mit.edu	37	19	49224135	49224135	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:49224135G>A	ENST00000222145.4	-	12	3016	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	938					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGAGGCGGCGGAGCCTACGG	0.652																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2812-2814)Cgc>Tgc		Ras interacting protein 1							62.0	63.0	63.0					19																	49224135		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224135G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2812C>T	19.37:g.49224135G>A	ENSP00000222145:p.Arg938Cys						p.R938C	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	3016	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	938					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2812C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583966	0.86748	.	.	ENSG00000105538	ENST00000222145	T	0.33438	1.41	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.52719	-0.8538	10	0.87932	D	0	-10.8877	17.2687	0.87095	0.0:0.0:1.0:0.0	.	938	Q5U651	RAIN_HUMAN	C	938	ENSP00000222145:R938C	ENSP00000222145:R938C	R	-	1	0	RASIP1	53915947	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.731000	0.84895	2.771000	0.95319	0.655000	0.94253	CGC		0.652	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		5	99	0	0	0	1	0	5	99				
EIF4G2	1982	broad.mit.edu	37	11	10821737	10821737	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:10821737G>A	ENST00000526148.1	-	18	2529	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L673L|EIF4G2_ENST00000525681.1_Silent_p.L673L|EIF4G2_ENST00000396525.2_Silent_p.L635L|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGTAGGAAGAGAGGAAAAT	0.413																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2017-2019)ctC>ctT		eukaryotic translation initiation factor 4 gamma, 2							85.0	83.0	83.0					11																	10821737		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821737G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2019C>T	11.37:g.10821737G>A						RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L635L|EIF4G2_ENST00000339995.5_Silent_p.L673L|EIF4G2_ENST00000525681.1_Silent_p.L673L	p.L673L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	18	2529	-			673						Silent	SNP	ENST00000526148.1	37	c.2019C>T	CCDS31428.1																																																																																				0.413	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		13	53	0	0	0	1	0	13	53				
PVRL4	81607	broad.mit.edu	37	1	161043042	161043042	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161043042G>A	ENST00000368012.3	-	8	1583	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	427					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTTGTCCTTGAGACTATCAG	0.652																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1279-1281)ctC>ctT		poliovirus receptor-related 4							82.0	78.0	79.0					1																	161043042		2203	4300	6503	SO:0001819	synonymous_variant	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043042G>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1281C>T	1.37:g.161043042G>A						PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	p.L427L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		8	1583	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		427					B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	c.1281C>T	CCDS1216.1																																																																																				0.652	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		5	37	0	0	0	1	0	5	37				
CCNF	899	broad.mit.edu	37	16	2487144	2487144	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:2487144G>A	ENST00000397066.4	+	5	449	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	121					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGTGTCTGATGAGGCCCGCGC	0.567																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(361-363)Gag>Aag		cyclin F							111.0	115.0	113.0					16																	2487144		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2487144G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.361G>A	16.37:g.2487144G>A	ENSP00000380256:p.Glu121Lys						p.E121K	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			5	449	+		Ovarian(90;0.17)	121					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.361G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002952	0.74932	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27256	1.68	5.92	5.92	0.95590	F-box domain, Skp2-like (1);	0.092667	0.64402	D	0.000001	T	0.34542	0.0901	M	0.62723	1.935	0.80722	D	1	P	0.50617	0.937	P	0.46110	0.504	T	0.08086	-1.0739	10	0.66056	D	0.02	-36.3379	15.3038	0.73976	0.0:0.1404:0.8596:0.0	.	121	P41002	CCNF_HUMAN	K	121;36	ENSP00000380256:E121K	ENSP00000293968:E36K	E	+	1	0	CCNF	2427145	1.000000	0.71417	0.988000	0.46212	0.905000	0.53344	7.700000	0.84556	2.804000	0.96469	0.655000	0.94253	GAG		0.567	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		6	143	0	0	0	1	0	6	143				
SPTAN1	6709	broad.mit.edu	37	9	131339679	131339679	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:131339679C>T	ENST00000372731.4	+	8	1089	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SPTAN1_ENST00000358161.5_Silent_p.L327L|SPTAN1_ENST00000372739.3_Silent_p.L327L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	327					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTCCCACCCTCTGAGTGCAAC	0.507																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(979-981)Ctg>Ttg		spectrin, alpha, non-erythrocytic 1							81.0	77.0	78.0					9																	131339679		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339679C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.979C>T	9.37:g.131339679C>T						SPTAN1_ENST00000358161.5_Silent_p.L327L|SPTAN1_ENST00000372731.4_Silent_p.L327L	p.L327L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			8	1089	+			327					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.979C>T	CCDS6905.1																																																																																				0.507	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		33	57	0	0	0	1	0	33	57				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	24	0	0	0	1	0	6	24				
RELB	5971	broad.mit.edu	37	19	45515473	45515473	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:45515473C>T	ENST00000221452.8	+	4	593	c.443C>T	c.(442-444)tCg>tTg	p.S148L	RELB_ENST00000540120.1_Missense_Mutation_p.S148L|RELB_ENST00000505236.1_Missense_Mutation_p.S145L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	148	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GAGGGCCGCTCGGCCGGCAGC	0.761																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(442-444)tCg>tTg		v-rel avian reticuloendotheliosis viral oncogene homolog B							10.0	11.0	11.0					19																	45515473		2002	4000	6002	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515473C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.443C>T	19.37:g.45515473C>T	ENSP00000221452:p.Ser148Leu					RELB_ENST00000540120.1_Missense_Mutation_p.S148L|RELB_ENST00000505236.1_Missense_Mutation_p.S145L	p.S148L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	593	+		Ovarian(192;0.0728)|all_neural(266;0.112)	148			RHD.		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.443C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474191	0.96291	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.60672	0.17;0.17;0.17	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000009	T	0.73760	0.3628	M	0.86805	2.84	0.80722	D	1	D	0.65815	0.995	P	0.56474	0.799	T	0.80469	-0.1369	10	0.87932	D	0	0.0133	13.9873	0.64343	0.0:1.0:0.0:0.0	.	145	D6R992	.	L	148;148;145	ENSP00000221452:S148L;ENSP00000445542:S148L;ENSP00000423287:S145L	ENSP00000221452:S148L	S	+	2	0	RELB	50207313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.050000	0.76620	2.159000	0.67721	0.462000	0.41574	TCG		0.761	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			20	15	0	0	0	1	0	20	15				
ANKMY1	51281	broad.mit.edu	37	2	241492400	241492400	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:241492400G>A	ENST00000272972.3	-	3	358	c.144C>T	c.(142-144)ttC>ttT	p.F48F	ANKMY1_ENST00000405523.3_Silent_p.F137F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000401804.1_Silent_p.F137F|ANKMY1_ENST00000391987.1_Silent_p.F48F|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000536462.1_Silent_p.F90F	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	48							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGTGCCCGTGAAACTGGAGC	0.552																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(142-144)ttC>ttT		ankyrin repeat and MYND domain containing 1							127.0	107.0	114.0					2																	241492400		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241492400G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.144C>T	2.37:g.241492400G>A						ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000405523.3_Silent_p.F137F|ANKMY1_ENST00000536462.1_Silent_p.F90F|ANKMY1_ENST00000272972.3_Silent_p.F48F|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000401804.1_Silent_p.F137F	p.F48F			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	510	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	48					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.144C>T	CCDS2536.1																																																																																				0.552	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		16	32	0	0	0	1	0	16	32				
ZRANB2	9406	broad.mit.edu	37	1	71544247	71544247	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:71544247C>T	ENST00000370920.3	-	3	412	c.111G>A	c.(109-111)gaG>gaA	p.E37E	ZRANB2-AS2_ENST00000455406.1_RNA|ZRANB2_ENST00000254821.6_Splice_Site_p.E37E|ZRANB2-AS2_ENST00000596952.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	37					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CAGTTGTTTTCTCTGAAAACA	0.373																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.e3-1		zinc finger, RAN-binding domain containing 2							93.0	97.0	96.0					1																	71544247		2201	4300	6501	SO:0001630	splice_region_variant	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71544247C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.110-1G>A	1.37:g.71544247C>T						ZRANB2_ENST00000254821.6_Splice_Site_p.E37_splice	p.E37_splice	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			3	412	-			37					D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Splice_Site	SNP	ENST00000370920.3	37	c.109_splice	CCDS659.1																																																																																				0.373	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	Silent	24	59	0	0	0	1	0	24	59				
CD34	947	broad.mit.edu	37	1	208072511	208072511	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:208072511G>A	ENST00000310833.7	-	3	644	c.323C>T	c.(322-324)tCt>tTt	p.S108F	CD34_ENST00000485761.1_5'Flank|CD34_ENST00000356522.4_Missense_Mutation_p.S108F|CD34_ENST00000537704.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	108					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGGACAGAAGAGTTTGTGTT	0.473																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(322-324)tCt>tTt		CD34 molecule							241.0	220.0	227.0					1																	208072511		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072511G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.323C>T	1.37:g.208072511G>A	ENSP00000310036:p.Ser108Phe					CD34_ENST00000310833.7_Missense_Mutation_p.S108F|CD34_ENST00000537704.1_Intron	p.S108F	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			3	644	-			108					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.323C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950129	0.92660	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	T;T	0.12147	2.71;2.71	4.42	4.42	0.53409	.	1.292180	0.05010	N	0.470784	T	0.35682	0.0940	L	0.61218	1.895	0.80722	D	1	D;P	0.61697	0.99;0.952	D;P	0.63192	0.912;0.753	T	0.00613	-1.1644	9	.	.	.	-2.8207	12.7417	0.57257	0.0:0.0:1.0:0.0	.	108;108	P28906-2;P28906	.;CD34_HUMAN	F	108;108;78	ENSP00000310036:S108F;ENSP00000348916:S108F	.	S	-	2	0	CD34	206139134	0.996000	0.38824	0.615000	0.29064	0.878000	0.50629	3.786000	0.55431	2.468000	0.83385	0.591000	0.81541	TCT		0.473	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		54	184	0	0	0	1	0	54	184				
OR2M3	127062	broad.mit.edu	37	1	248366801	248366801	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:248366801G>C	ENST00000456743.1	+	1	470	c.432G>C	c.(430-432)atG>atC	p.M144I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGGACTTATGACTGCCTTTT	0.453																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(430-432)atG>atC		olfactory receptor, family 2, subfamily M, member 3							208.0	206.0	207.0					1																	248366801		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366801G>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.432G>C	1.37:g.248366801G>C	ENSP00000389625:p.Met144Ile						p.M144I	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	470	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		144					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.432G>C	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	4.780	0.145020	0.09134	.	.	ENSG00000228198	ENST00000456743	T	0.35605	1.3	2.55	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.673432	0.12044	U	0.504812	T	0.32645	0.0836	L	0.58428	1.81	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.21930	-1.0231	10	0.29301	T	0.29	.	9.6009	0.39603	0.1219:0.0:0.8781:0.0	.	144	Q8NG83	OR2M3_HUMAN	I	144	ENSP00000389625:M144I	ENSP00000389625:M144I	M	+	3	0	OR2M3	246433424	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.448000	0.21726	1.425000	0.47237	0.405000	0.27470	ATG		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		74	250	0	0	0	1	0	74	250				
RANBP2	5903	broad.mit.edu	37	2	109367852	109367852	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:109367852C>T	ENST00000283195.6	+	10	1532	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	469					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S469*(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATGAAACCTCAAGGCTTGAA	0.338																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Nonsense(2)	p.S469*(2)	lung(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1405-1407)tCa>tTa		RAN binding protein 2							63.0	71.0	68.0					2																	109367852		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367852C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1406C>T	2.37:g.109367852C>T	ENSP00000283195:p.Ser469Leu						p.S469L	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1532	+			469					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1406C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101952	0.76983	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.83673	-1.75	5.25	5.25	0.73442	.	.	.	.	.	D	0.90222	0.6943	M	0.64997	1.995	0.42882	D	0.994174	D	0.76494	0.999	D	0.80764	0.994	D	0.91093	0.4908	9	0.87932	D	0	-14.9167	19.2117	0.93758	0.0:1.0:0.0:0.0	.	469	P49792	RBP2_HUMAN	L	469	ENSP00000283195:S469L	ENSP00000283195:S469L	S	+	2	0	RANBP2	108734284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.380000	0.66202	2.602000	0.87976	0.650000	0.86243	TCA		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		11	229	0	0	0	1	0	11	229				
COL4A6	1288	broad.mit.edu	37	X	107400293	107400293	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:107400293C>T	ENST00000372216.4	-	45	5113	c.5013G>A	c.(5011-5013)acG>acA	p.T1671T	COL4A6_ENST00000334504.7_Silent_p.T1670T|COL4A6_ENST00000538570.1_Silent_p.T1613T|COL4A6_ENST00000545689.1_Silent_p.T1646T|COL4A6_ENST00000394872.2_Silent_p.T1671T|COL4A6_ENST00000418180.1_Silent_p.T205T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1671	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGCTTTCAGCGTTTCAGACA	0.582									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(5008-5010)acG>acA		collagen, type IV, alpha 6							94.0	83.0	87.0					X																	107400293		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107400293C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.5013G>A	X.37:g.107400293C>T						COL4A6_ENST00000372216.4_Silent_p.T1671T|COL4A6_ENST00000418180.1_Silent_p.T205T|COL4A6_ENST00000394872.2_Silent_p.T1671T|COL4A6_ENST00000545689.1_Silent_p.T1646T|COL4A6_ENST00000538570.1_Silent_p.T1613T	p.T1670T	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			45	5243	-			1671			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.5010G>A	CCDS14541.1																																																																																				0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			40	55	0	0	0	1	0	40	55				
OR2T12	127064	broad.mit.edu	37	1	248458870	248458870	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:248458870C>T	ENST00000317996.1	-	1	10	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGTAGTATTTCTCATCTCCAT	0.443																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(10-12)aGa>aAa		olfactory receptor, family 2, subfamily T, member 12							70.0	71.0	71.0					1																	248458870		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458870C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.11G>A	1.37:g.248458870C>T	ENSP00000324583:p.Arg4Lys						p.R4K	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	10	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		4						Missense_Mutation	SNP	ENST00000317996.1	37	c.11G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	C	2.621	-0.288478	0.05605	.	.	ENSG00000177201	ENST00000317996	T	0.00364	7.81	1.35	-0.0143	0.13981	.	0.941127	0.08704	U	0.905901	T	0.00144	0.0004	N	0.10945	0.07	0.09310	N	1	B	0.16603	0.018	B	0.18263	0.021	T	0.09662	-1.0664	10	0.15952	T	0.53	.	3.8091	0.08789	0.2238:0.4105:0.3657:0.0	.	4	Q8NG77	O2T12_HUMAN	K	4	ENSP00000324583:R4K	ENSP00000324583:R4K	R	-	2	0	OR2T12	246525493	0.000000	0.05858	0.021000	0.16686	0.156000	0.22039	-0.308000	0.08156	0.498000	0.27948	0.184000	0.17185	AGA		0.443	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		19	116	0	0	0	1	0	19	116				
CXorf21	80231	broad.mit.edu	37	X	30577888	30577888	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chrX:30577888C>T	ENST00000378962.3	-	3	907	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	195										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGCTGCTTTTCTCTTTGATGC	0.413																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(583-585)gaG>gaA		chromosome X open reading frame 21							110.0	101.0	104.0					X																	30577888		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577888C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.585G>A	X.37:g.30577888C>T							p.E195E	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	907	-			195						Silent	SNP	ENST00000378962.3	37	c.585G>A	CCDS14224.1																																																																																				0.413	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		46	63	0	0	0	1	0	46	63				
CCDC57	284001	broad.mit.edu	37	17	80159775	80159775	+	Missense_Mutation	SNP	G	G	A	rs572961940		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:80159775G>A	ENST00000389641.4	-	2	82	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CCDC57_ENST00000392343.3_Missense_Mutation_p.R16C|CCDC57_ENST00000392347.1_Missense_Mutation_p.R16C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	16										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCTCCTTGCGAAGCAGCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17108	0.0		0.0	False		,,,				2504	0.001					ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(46-48)Cgc>Tgc		coiled-coil domain containing 57							15.0	17.0	16.0					17																	80159775		2096	4210	6306	SO:0001583	missense	284001							g.chr17:80159775G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.46C>T	17.37:g.80159775G>A	ENSP00000374292:p.Arg16Cys					CCDC57_ENST00000392343.3_Missense_Mutation_p.R16C|CCDC57_ENST00000389641.4_Missense_Mutation_p.R16C	p.R16C	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	82	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		16					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	G	6.346	0.432015	0.12045	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24350	3.03;3.03;1.86	5.18	0.343	0.16001	.	0.870867	0.10122	N	0.713314	T	0.17831	0.0428	L	0.41236	1.265	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.28038	-1.0056	10	0.46703	T	0.11	-8.2658	3.5546	0.07860	0.4243:0.0:0.4024:0.1733	.	16;16	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	C	16	ENSP00000374292:R16C;ENSP00000376158:R16C;ENSP00000376154:R16C	ENSP00000374292:R16C	R	-	1	0	CCDC57	77753064	0.000000	0.05858	0.034000	0.17996	0.020000	0.10135	0.740000	0.26188	0.291000	0.22468	-0.128000	0.14901	CGC		0.657	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		3	32	0	0	0	1	0	3	32				
ARAP2	116984	broad.mit.edu	37	4	36230658	36230658	+	Missense_Mutation	SNP	G	G	A	rs145147471		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:36230658G>A	ENST00000303965.4	-	2	940	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	151					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGGAAGTCGCGTTTAGGAGGA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20579	0.0		0.001	False		,,,				2504	0.0					ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(451-453)Cgc>Tgc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		G	CYS/ARG	0,4406		0,0,2203	80.0	76.0	77.0		451	0.6	0.0	4	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ARAP2	NM_015230.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	151/1705	36230658	2,13004	2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36230658G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.451C>T	4.37:g.36230658G>A	ENSP00000302895:p.Arg151Cys						p.R151C	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			2	940	-			151					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.451C>T	CCDS3441.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.044	0.005848	0.07866	0.0	2.33E-4	ENSG00000047365	ENST00000303965	T	0.63417	-0.04	5.36	0.609	0.17575	.	2.806130	0.01279	N	0.009683	T	0.41581	0.1165	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.25710	-1.0124	10	0.46703	T	0.11	.	3.5968	0.08009	0.3438:0.0:0.3875:0.2688	.	81;151	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	C	151	ENSP00000302895:R151C	ENSP00000302895:R151C	R	-	1	0	ARAP2	35907053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.088000	0.14979	-0.216000	0.10048	-0.860000	0.03012	CGC		0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		24	26	0	0	0	1	0	24	26				
RBM27	54439	broad.mit.edu	37	5	145647224	145647224	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:145647224C>G	ENST00000265271.5	+	15	2510	c.2344C>G	c.(2344-2346)Cca>Gca	p.P782A	RBM27_ENST00000506502.1_Missense_Mutation_p.P727A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	782					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P782A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTCAACTCCAGGCCATCC	0.289																																						ENST00000265271.5																			1	Substitution - Missense(1)	p.P782A(1)	NS(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2344-2346)Cca>Gca		RNA binding motif protein 27							61.0	57.0	58.0					5																	145647224		1567	3581	5148	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145647224C>G	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2344C>G	5.37:g.145647224C>G	ENSP00000265271:p.Pro782Ala					RBM27_ENST00000506502.1_Missense_Mutation_p.P727A	p.P782A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2510	+			782					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2344C>G	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.955631	0.00470	.	.	ENSG00000091009	ENST00000265271	T	0.44482	0.92	5.13	2.92	0.33932	.	0.471231	0.21431	N	0.074654	T	0.12646	0.0307	N	0.02539	-0.55	0.31326	N	0.685382	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.15925	-1.0420	10	0.08837	T	0.75	-5.0743	2.0911	0.03657	0.2509:0.4142:0.0:0.3349	.	782;727	Q9P2N5;B3KY61	RBM27_HUMAN;.	A	782	ENSP00000265271:P782A	ENSP00000265271:P782A	P	+	1	0	RBM27	145627417	1.000000	0.71417	0.834000	0.33040	0.071000	0.16799	2.148000	0.42235	1.279000	0.44446	0.467000	0.42956	CCA		0.289	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		15	54	0	0	0	1	0	15	54				
KIF26B	55083	broad.mit.edu	37	1	245849209	245849209	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:245849209C>G	ENST00000407071.2	+	12	3364	c.2924C>G	c.(2923-2925)tCt>tGt	p.S975C	KIF26B_ENST00000366518.4_Missense_Mutation_p.S594C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	975					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCCCACTCTCTGAGTCTGAT	0.577																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1780-1782)tCt>tGt		kinesin family member 26B							21.0	27.0	25.0					1																	245849209		1981	4152	6133	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849209C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2924C>G	1.37:g.245849209C>G	ENSP00000385545:p.Ser975Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.S975C	p.S594C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1885	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		975			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1781C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749473	0.30955	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78595	-1.19;-1.19	5.5	3.63	0.41609	.	.	.	.	.	T	0.65873	0.2733	L	0.38175	1.15	0.18873	N	0.999985	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55010	-0.8207	9	0.44086	T	0.13	.	5.6	0.17349	0.1201:0.6179:0.1811:0.0809	.	594;975	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	975;594;591	ENSP00000385545:S975C;ENSP00000355475:S594C	ENSP00000355475:S594C	S	+	2	0	KIF26B	243915832	0.115000	0.22152	0.159000	0.22649	0.904000	0.53231	1.174000	0.31932	0.693000	0.31634	0.561000	0.74099	TCT		0.577	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	23	0	0	0	1	0	6	23				
KCNV2	169522	broad.mit.edu	37	9	2718734	2718734	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:2718734G>A	ENST00000382082.3	+	1	1233	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	332					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGCTTCGCGCGCAGCGCCCTC	0.677																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(994-996)cGc>cAc		potassium channel, subfamily V, member 2							46.0	51.0	49.0					9																	2718734		2202	4298	6500	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718734G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.995G>A	9.37:g.2718734G>A	ENSP00000371514:p.Arg332His						p.R332H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1233	+			332					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.995G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867721	0.72065	.	.	ENSG00000168263	ENST00000382082	D	0.98901	-5.22	5.22	4.32	0.51571	Ion transport (1);	0.162434	0.53938	D	0.000049	D	0.99158	0.9709	M	0.90145	3.09	0.48040	D	0.999571	D	0.76494	0.999	D	0.68621	0.959	D	0.99246	1.0886	10	0.87932	D	0	.	14.0448	0.64698	0.0729:0.0:0.9271:0.0	.	332	Q8TDN2	KCNV2_HUMAN	H	332	ENSP00000371514:R332H	ENSP00000371514:R332H	R	+	2	0	KCNV2	2708734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.906000	0.63293	1.201000	0.43203	0.563000	0.77884	CGC		0.677	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		41	62	0	0	0	1	0	41	62				
MBP	4155	broad.mit.edu	37	18	74692412	74692412	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr18:74692412G>A	ENST00000397869.3	-	6	728	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	RP11-862L9.3_ENST00000582763.1_RNA|RP11-862L9.3_ENST00000583889.1_RNA|MBP_ENST00000397866.4_Missense_Mutation_p.R163C|MBP_ENST00000382582.3_Missense_Mutation_p.R189C|MBP_ENST00000580402.1_Missense_Mutation_p.R296C|MBP_ENST00000354542.4_Missense_Mutation_p.R65C|MBP_ENST00000359645.3_Missense_Mutation_p.R178C|MBP_ENST00000579129.1_Missense_Mutation_p.R245C|MBP_ENST00000397865.5_Missense_Mutation_p.R152C|MBP_ENST00000526111.1_Missense_Mutation_p.R141C|MBP_ENST00000578193.1_3'UTR|MBP_ENST00000528160.1_Silent_p.V46V|MBP_ENST00000355994.2_Missense_Mutation_p.R296C|RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000527041.1_Intron|RP11-862L9.3_ENST00000577364.1_RNA|RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000397875.3_Missense_Mutation_p.R173C			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GATCCAGAGCGACTATCTCTT	0.527																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(886-888)Cgc>Tgc		myelin basic protein							154.0	148.0	150.0					18																	74692412		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74692412G>A		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.682C>T	18.37:g.74692412G>A	ENSP00000380967:p.Arg228Cys					MBP_ENST00000382582.3_Missense_Mutation_p.R189C|MBP_ENST00000397875.3_Missense_Mutation_p.R173C|MBP_ENST00000578193.1_3'UTR|MBP_ENST00000397866.4_Missense_Mutation_p.R163C|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000580402.1_Missense_Mutation_p.R296C|MBP_ENST00000528160.1_Silent_p.V46V|MBP_ENST00000354542.4_Missense_Mutation_p.R65C|MBP_ENST00000526111.1_Missense_Mutation_p.R141C|MBP_ENST00000579129.1_Missense_Mutation_p.R245C|MBP_ENST00000397865.5_Missense_Mutation_p.R152C|MBP_ENST00000359645.3_Missense_Mutation_p.R178C|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.R228C	p.R296C	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	9	1149	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	296					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.487222	0.84854	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000354542;ENST00000526111	.	.	.	5.0	5.0	0.66597	.	0.080409	0.46145	D	0.000307	T	0.68540	0.3012	L	0.39898	1.24	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.71600	-0.4544	9	0.72032	D	0.01	-3.0226	15.4683	0.75419	0.0:0.0:1.0:0.0	.	296;152;178;189	P02686;P02686-6;P02686-4;P02686-3	MBP_HUMAN;.;.;.	C	189;296;173;163;152;178;228;65;141	.	ENSP00000346545:R65C	R	-	1	0	MBP	72821400	1.000000	0.71417	0.959000	0.39883	0.984000	0.73092	5.239000	0.65371	2.320000	0.78422	0.563000	0.77884	CGC		0.527	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		37	94	0	0	0	1	0	37	94				
TRIOBP	11078	broad.mit.edu	37	22	38121171	38121171	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:38121171C>G	ENST00000406386.3	+	7	2863	c.2608C>G	c.(2608-2610)Caa>Gaa	p.Q870E		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	870					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCTCATCTCAATGCTGCAC	0.498																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2608-2610)Caa>Gaa		TRIO and F-actin binding protein							135.0	146.0	142.0					22																	38121171		2029	4168	6197	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121171C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2608C>G	22.37:g.38121171C>G	ENSP00000384312:p.Gln870Glu					RP1-37E16.12_ENST00000455236.1_RNA	p.Q870E	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2863	+	Melanoma(58;0.0574)		870					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2608C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231226	0.39399	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24908	1.83	4.82	4.82	0.62117	.	.	.	.	.	T	0.22781	0.0550	L	0.46157	1.445	0.26551	N	0.973916	B	0.29037	0.231	B	0.22386	0.039	T	0.08534	-1.0717	9	0.20519	T	0.43	.	13.8254	0.63348	0.0:1.0:0.0:0.0	.	870	Q9H2D6	TARA_HUMAN	E	870	ENSP00000384312:Q870E	ENSP00000384312:Q870E	Q	+	1	0	TRIOBP	36451117	0.005000	0.15991	0.025000	0.17156	0.315000	0.28087	0.772000	0.26647	2.397000	0.81536	0.460000	0.39030	CAA		0.498	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			59	154	0	0	0	1	0	59	154				
ZNF44	51710	broad.mit.edu	37	19	12385844	12385844	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:12385844C>T	ENST00000356109.5	-	4	397	c.279G>A	c.(277-279)atG>atA	p.M93I	ZNF44_ENST00000355684.5_Missense_Mutation_p.M45I	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		TTTCCCATTTCATTCCTAAAA	0.308																																						ENST00000356109.5																			0				ovary(1)	1						c.(277-279)atG>atA		zinc finger protein 44							53.0	52.0	52.0					19																	12385844		1828	4098	5926	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12385844C>T	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	ENST00000356109.5:c.279G>A	19.37:g.12385844C>T	ENSP00000348419:p.Met93Ile					ZNF44_ENST00000355684.5_Missense_Mutation_p.M45I	p.M93I	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	4	397	-		Renal(1328;0.157)	93			KRAB.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.279G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	4.436	0.080694	0.08533	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.00737	5.76;5.76;5.76	1.21	0.106	0.14540	Krueppel-associated box (3);	.	.	.	.	T	0.00356	0.0011	N	0.02345	-0.59	.	.	.	P;B	0.40000	0.698;0.43	B;B	0.33254	0.07;0.16	T	0.41893	-0.9483	8	0.22706	T	0.39	.	3.473	0.07574	0.0:0.716:0.0:0.284	.	93;45	P15621;F8W7T7	ZNF44_HUMAN;.	I	93;93;45;45	ENSP00000377008:M93I;ENSP00000348419:M93I;ENSP00000347910:M45I	ENSP00000347910:M45I	M	-	3	0	ZNF44	12246844	0.001000	0.12720	0.006000	0.13384	0.559000	0.35586	-0.381000	0.07417	0.096000	0.17463	0.305000	0.20034	ATG		0.308	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		3	16	0	0	0	1	0	3	16				
FMOD	2331	broad.mit.edu	37	1	203316865	203316865	+	Silent	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:203316865C>G	ENST00000354955.4	-	2	997	c.534G>C	c.(532-534)ctG>ctC	p.L178L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	178					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGAGCTCTCTCAGGGATCGAG	0.597																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(532-534)ctG>ctC		fibromodulin							126.0	129.0	128.0					1																	203316865		2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316865C>G	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.534G>C	1.37:g.203316865C>G						FMOD_ENST00000464898.1_5'UTR	p.L178L	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	997	-			178					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.534G>C	CCDS30976.1																																																																																				0.597	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		108	79	0	0	0	1	0	108	79				
QSER1	79832	broad.mit.edu	37	11	32956885	32956885	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:32956885G>A	ENST00000399302.2	+	4	4029	c.3694G>A	c.(3694-3696)Gat>Aat	p.D1232N	QSER1_ENST00000527788.1_Missense_Mutation_p.D993N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1232										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATTTTCTTCTGATGAAGATGA	0.353																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3694-3696)Gat>Aat		glutamine and serine rich 1							153.0	152.0	152.0					11																	32956885		1819	4078	5897	SO:0001583	missense	79832							g.chr11:32956885G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3694G>A	11.37:g.32956885G>A	ENSP00000382241:p.Asp1232Asn					QSER1_ENST00000527788.1_Missense_Mutation_p.D993N	p.D1232N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	4029	+	Breast(20;0.158)		1232					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3694G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310973	0.60414	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.62105	0.42;0.05	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.81307	0.4795	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.83703	0.0183	10	0.87932	D	0	.	19.1159	0.93338	0.0:0.0:1.0:0.0	.	993;993;1232	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	N	1232;993;993	ENSP00000382241:D1232N;ENSP00000432766:D993N	ENSP00000078652:D993N	D	+	1	0	QSER1	32913461	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	9.476000	0.97823	2.519000	0.84933	0.467000	0.42956	GAT		0.353	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		10	167	0	0	0	1	0	10	167				
FCGR2A	2212	broad.mit.edu	37	1	161480645	161480645	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:161480645C>T	ENST00000271450.6	+	5	679	c.641C>T	c.(640-642)tCa>tTa	p.S214L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.S213L|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	214					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCAGCTCTTCACCAATGGGG	0.507																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(640-642)tCa>tTa		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						228.0	223.0	225.0					1																	161480645		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480645C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.641C>T	1.37:g.161480645C>T	ENSP00000271450:p.Ser214Leu					FCGR2A_ENST00000367972.4_Missense_Mutation_p.S213L|FCGR2A_ENST00000467525.1_3'UTR	p.S214L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	679	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		214					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.641C>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	1.089	-0.664716	0.03428	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01804	4.64;4.63	2.27	1.31	0.21738	.	7.600780	0.00166	N	0.000003	T	0.00524	0.0017	L	0.41824	1.3	0.27959	N	0.9368380000000001	B;B	0.23540	0.023;0.087	B;B	0.28553	0.019;0.091	T	0.43877	-0.9364	9	0.02654	T	1	.	4.2135	0.10522	0.0:0.7851:0.0:0.2149	.	214;213	P12318;P12318-2	FCG2A_HUMAN;.	L	213;214	ENSP00000356949:S213L;ENSP00000271450:S214L	ENSP00000271450:S214L	S	+	2	0	FCGR2A	159747269	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.027000	0.13621	0.472000	0.27344	0.561000	0.74099	TCA		0.507	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		40	152	0	0	0	1	0	40	152				
ANKZF1	55139	broad.mit.edu	37	2	220098519	220098519	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:220098519C>T	ENST00000323348.5	+	8	1076	c.902C>T	c.(901-903)tCt>tTt	p.S301F	ANKZF1_ENST00000410034.3_Missense_Mutation_p.S301F|ANKZF1_ENST00000409849.1_Missense_Mutation_p.S91F|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	301						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCCCGCTCTGGCCGGTCT	0.602																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(901-903)tCt>tTt		ankyrin repeat and zinc finger domain containing 1							82.0	88.0	86.0					2																	220098519		1963	4132	6095	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098519C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.902C>T	2.37:g.220098519C>T	ENSP00000321617:p.Ser301Phe					ANKZF1_ENST00000409849.1_Missense_Mutation_p.S91F|ANKZF1_ENST00000410034.3_Missense_Mutation_p.S301F	p.S301F	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1076	+		Renal(207;0.0474)	301					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.902C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291305	0.59976	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.30448	1.53;1.81;1.53	5.13	5.13	0.70059	.	0.163884	0.56097	D	0.000027	T	0.50990	0.1648	M	0.85197	2.74	0.42171	D	0.991648	D;P;D	0.59767	0.986;0.922;0.976	P;P;P	0.55112	0.769;0.57;0.592	T	0.52147	-0.8614	10	0.27785	T	0.31	-15.1775	14.6234	0.68602	0.1546:0.8454:0.0:0.0	.	245;91;301	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	F	301;91;301	ENSP00000321617:S301F;ENSP00000386815:S91F;ENSP00000386337:S301F	ENSP00000321617:S301F	S	+	2	0	ANKZF1	219806763	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.528000	0.53524	2.655000	0.90218	0.655000	0.94253	TCT		0.602	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		42	84	0	0	0	1	0	42	84				
UPK3B	80761	broad.mit.edu	37	7	76140988	76140988	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:76140988C>G	ENST00000257632.5	+	2	543	c.415C>G	c.(415-417)Cag>Gag	p.Q139E	UPK3B_ENST00000443097.2_Missense_Mutation_p.Q84E|UPK3B_ENST00000448265.3_Missense_Mutation_p.Q139E|UPK3B_ENST00000334348.3_Missense_Mutation_p.Q84E|UPK3B_ENST00000419923.2_Missense_Mutation_p.Q139E|UPK3B_ENST00000394849.1_Missense_Mutation_p.Q84E			Q9BT76	UPK3B_HUMAN	uroplakin 3B	139					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CAGGGGCTTCCAGAACCCGGA	0.622																																						ENST00000419923.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(415-417)Cag>Gag		uroplakin 3B							11.0	11.0	11.0					7																	76140988		2196	4272	6468	SO:0001583	missense	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76140988C>G	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.415C>G	7.37:g.76140988C>G	ENSP00000257632:p.Gln139Glu					UPK3B_ENST00000257632.5_Missense_Mutation_p.Q139E|UPK3B_ENST00000394849.1_Missense_Mutation_p.Q84E|UPK3B_ENST00000334348.3_Missense_Mutation_p.Q84E|UPK3B_ENST00000448265.3_Missense_Mutation_p.Q139E|UPK3B_ENST00000443097.2_Missense_Mutation_p.Q84E	p.Q139E			Q9BT76	UPK3B_HUMAN			2	640	+		Myeloproliferative disorder(862;0.204)	139					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	c.415C>G	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	2.176	-0.388683	0.04932	.	.	ENSG00000243566	ENST00000334348;ENST00000419923;ENST00000448265;ENST00000443097;ENST00000257632;ENST00000394849	T;T;T;T;T;T	0.54675	0.56;1.51;1.51;0.56;1.51;1.51	5.07	5.07	0.68467	.	0.856252	0.10328	N	0.687914	T	0.40743	0.1129	N	0.20986	0.625	0.25824	N	0.984244	B;B;B	0.21225	0.001;0.023;0.053	B;B;B	0.17722	0.003;0.013;0.019	T	0.15694	-1.0428	9	.	.	.	-27.1343	13.9492	0.64106	0.0:1.0:0.0:0.0	.	84;139;84	Q9BT76-2;Q9BT76;A6NHH5	.;UPK3B_HUMAN;.	E	84;139;139;84;139;84	ENSP00000334938:Q84E;ENSP00000441602:Q139E;ENSP00000441284:Q139E;ENSP00000444585:Q84E;ENSP00000257632:Q139E;ENSP00000378319:Q84E	.	Q	+	1	0	UPK3B	75978924	0.381000	0.25140	0.998000	0.56505	0.091000	0.18340	0.913000	0.28611	2.357000	0.79964	0.460000	0.39030	CAG		0.622	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		4	9	0	0	0	1	0	4	9				
TNFRSF1B	7133	broad.mit.edu	37	1	12266899	12266899	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:12266899C>T	ENST00000376259.3	+	10	1297	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	403					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CAAGCCAGCTCCACAATGGGA	0.597																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1207-1209)tCc>tTc		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						96.0	83.0	87.0					1																	12266899		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12266899C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1208C>T	1.37:g.12266899C>T	ENSP00000365435:p.Ser403Phe					TNFRSF1B_ENST00000492361.1_3'UTR	p.S403F	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	10	1297	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	403					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.1208C>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	C	5.312	0.242971	0.10077	.	.	ENSG00000028137	ENST00000376259	D	0.88201	-2.35	4.93	2.97	0.34412	.	1.052700	0.07413	N	0.892735	T	0.80193	0.4578	N	0.22421	0.69	0.31711	N	0.639476	B	0.32283	0.362	B	0.21708	0.036	T	0.73319	-0.4020	10	0.45353	T	0.12	-4.0676	8.0355	0.30491	0.194:0.6389:0.167:0.0	.	403	P20333	TNR1B_HUMAN	F	403	ENSP00000365435:S403F	ENSP00000365435:S403F	S	+	2	0	TNFRSF1B	12189486	0.010000	0.17322	0.113000	0.21522	0.061000	0.15899	1.376000	0.34306	0.523000	0.28482	0.561000	0.74099	TCC		0.597	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		28	48	0	0	0	1	0	28	48				
XRRA1	143570	broad.mit.edu	37	11	74638504	74638504	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:74638504C>T	ENST00000340360.6	-	7	761	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.E144K	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGATCCAGTTCCTTTAGGGCT	0.393																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(430-432)Gaa>Aaa		X-ray radiation resistance associated 1							94.0	88.0	90.0					11																	74638504		1862	4095	5957	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74638504C>T	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.430G>A	11.37:g.74638504C>T	ENSP00000339918:p.Glu144Lys					XRRA1_ENST00000527087.1_Missense_Mutation_p.E144K|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_5'UTR	p.E144K	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			7	761	-			144						Missense_Mutation	SNP	ENST00000340360.6	37	c.430G>A	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278458	0.95459	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.55234	1.85;0.53;0.66	5.57	5.57	0.84162	.	0.187954	0.46145	D	0.000304	T	0.73040	0.3536	M	0.80746	2.51	0.46061	D	0.998841	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.72906	-0.4150	10	0.39692	T	0.17	-18.9501	15.0631	0.71970	0.0:1.0:0.0:0.0	.	144;144	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	K	144;144;144;144;152	ENSP00000339918:E144K;ENSP00000435838:E144K;ENSP00000437334:E152K	ENSP00000339918:E144K	E	-	1	0	XRRA1	74316152	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.363000	0.59473	2.619000	0.88677	0.650000	0.86243	GAA		0.393	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		8	17	0	0	0	1	0	8	17				
AAR2	25980	broad.mit.edu	37	20	34828442	34828442	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr20:34828442G>C	ENST00000373932.3	+	2	998	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	AAR2_ENST00000320849.4_Missense_Mutation_p.E218Q|AAR2_ENST00000397286.3_Missense_Mutation_p.E218Q	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	218																	GATGTTCCCAGAGGGTGCCAC	0.602																																						ENST00000373932.3																			0											c.(652-654)Gag>Cag		AAR2 splicing factor homolog (S. cerevisiae)							43.0	46.0	45.0					20																	34828442		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34828442G>C		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.652G>C	20.37:g.34828442G>C	ENSP00000363043:p.Glu218Gln					AAR2_ENST00000397286.3_Missense_Mutation_p.E218Q|AAR2_ENST00000320849.4_Missense_Mutation_p.E218Q	p.E218Q	NM_015511.3	NP_056326.2					2	998	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.652G>C	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737279	0.30774	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.46063	0.88;0.88;0.88	5.03	4.08	0.47627	.	0.530450	0.22257	N	0.062476	T	0.23806	0.0576	N	0.08118	0	0.18873	N	0.999984	B;B	0.25206	0.12;0.015	B;B	0.28139	0.086;0.048	T	0.16012	-1.0417	10	0.19590	T	0.45	.	12.8836	0.58030	0.0784:0.0:0.9216:0.0	.	218;218	A2A2Q9;Q9Y312	.;CT004_HUMAN	Q	218	ENSP00000380455:E218Q;ENSP00000313674:E218Q;ENSP00000363043:E218Q	ENSP00000313674:E218Q	E	+	1	0	C20orf4	34291856	0.989000	0.36119	0.853000	0.33588	0.833000	0.47200	5.267000	0.65530	1.478000	0.48253	0.655000	0.94253	GAG		0.602	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		36	113	0	0	0	1	0	36	113				
FBXO40	51725	broad.mit.edu	37	3	121340544	121340544	+	Missense_Mutation	SNP	G	G	A	rs201011500		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:121340544G>A	ENST00000338040.4	+	3	682	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	90					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGTGTGCCCCGCCAGCGTGGT	0.577																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(268-270)Gcc>Acc		F-box protein 40		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	53.0	56.0	55.0		268	3.7	0.8	3		55	0,8600		0,0,4300	no	missense	FBXO40	NM_016298.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	90/710	121340544	1,13005	2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340544G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.268G>A	3.37:g.121340544G>A	ENSP00000337510:p.Ala90Thr						p.A90T	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	682	+			90					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.268G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473811	0.63737	2.27E-4	0.0	ENSG00000163833	ENST00000338040	T	0.46451	0.87	5.47	3.67	0.42095	Zinc finger, TRAF-type (1);Seven In Absentia Homolog-type (1);	0.051967	0.85682	D	0.000000	T	0.64702	0.2622	M	0.85777	2.775	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.66646	-0.5871	10	0.87932	D	0	-11.0395	9.2795	0.37720	0.0804:0.1462:0.7734:0.0	.	90	Q9UH90	FBX40_HUMAN	T	90	ENSP00000337510:A90T	ENSP00000337510:A90T	A	+	1	0	FBXO40	122823234	1.000000	0.71417	0.757000	0.31301	0.925000	0.55904	9.835000	0.99442	0.691000	0.31592	-0.886000	0.02939	GCC		0.577	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		27	54	0	0	0	1	0	27	54				
MGEA5	10724	broad.mit.edu	37	10	103557837	103557837	+	Silent	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:103557837G>C	ENST00000361464.3	-	10	2279	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	MGEA5_ENST00000439817.1_Silent_p.L575L|MGEA5_ENST00000357797.5_Silent_p.L575L|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Silent_p.L628L	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	628					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CACAATTGGAGAGCCGAGTGA	0.403																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1882-1884)ctC>ctG		meningioma expressed antigen 5 (hyaluronidase)							138.0	125.0	129.0					10																	103557837		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103557837G>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1884C>G	10.37:g.103557837G>C						MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Silent_p.L575L|MGEA5_ENST00000370094.3_Silent_p.L628L|MGEA5_ENST00000439817.1_Silent_p.L575L	p.L628L	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	10	2279	-		Colorectal(252;0.207)	628			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.1884C>G	CCDS7520.1																																																																																				0.403	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		4	60	0	0	0	1	0	4	60				
TUBB4A	10382	broad.mit.edu	37	19	6495551	6495551	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:6495551C>T	ENST00000264071.2	-	4	1330	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	320					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CATGGACATGCGGCCCCGGAA	0.637																																						ENST00000264071.2																			0											c.(958-960)cGc>cAc		tubulin, beta 4A class IVa							114.0	97.0	103.0					19																	6495551		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495551C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.959G>A	19.37:g.6495551C>T	ENSP00000264071:p.Arg320His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H	p.R320H			P04350	TBB4_HUMAN			4	1330	-			320					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.959G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373060	0.42105	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84298	-1.83;-1.83	3.43	3.43	0.39272	.	0.000000	0.64402	D	0.000001	D	0.82852	0.5127	M	0.64630	1.985	0.52501	D	0.999955	B	0.12630	0.006	B	0.10450	0.005	T	0.82285	-0.0533	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	320	P04350	TBB4A_HUMAN	H	320;320;238	ENSP00000264071:R320H;ENSP00000443590:R320H	ENSP00000264071:R320H	R	-	2	0	TUBB4	6446551	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		5	195	0	0	0	1	0	5	195				
TOLLIP	54472	broad.mit.edu	37	11	1310007	1310007	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:1310007C>T	ENST00000317204.6	-	4	490		c.e4-1		TOLLIP_ENST00000263646.7_Splice_Site|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000528719.1_Splice_Site|TOLLIP_ENST00000525159.1_Splice_Site|TOLLIP_ENST00000542915.1_Splice_Site|TOLLIP_ENST00000527886.1_Splice_Site	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein						autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		AGAAGGCTCTCTGCGGGAGAC	0.657																																						ENST00000527886.1																			0				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.e4-1		toll interacting protein							88.0	61.0	70.0					11																	1310007		2200	4297	6497	SO:0001630	splice_region_variant	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1310007C>T	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.367-1G>A	11.37:g.1310007C>T						TOLLIP_ENST00000317204.6_Splice_Site|TOLLIP_ENST00000528719.1_Splice_Site|TOLLIP_ENST00000525159.1_Splice_Site|TOLLIP_ENST00000542915.1_Splice_Site|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Splice_Site				Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	4	540	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						B3KXC6|Q9H9E6|Q9UJ69	Splice_Site	SNP	ENST00000317204.6	37		CCDS7723.1	.	.	.	.	.	.	.	.	.	.	c	16.83	3.232517	0.58777	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2505	0.87041	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOLLIP	1266583	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.003000	0.76310	2.314000	0.78098	0.479000	0.44913	.		0.657	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009	Intron	19	21	0	0	0	1	0	19	21				
STAB1	23166	broad.mit.edu	37	3	52548442	52548442	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr3:52548442G>A	ENST00000321725.6	+	34	3684	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1203	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAAACCCTGCGGAAGGGTGGA	0.617																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3607-3609)cGg>cAg		stabilin 1							80.0	84.0	82.0					3																	52548442		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52548442G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3608G>A	3.37:g.52548442G>A	ENSP00000312946:p.Arg1203Gln						p.R1203Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	34	3684	+			1203			FAS1 4.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3608G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	5.456	0.269196	0.10349	.	.	ENSG00000010327	ENST00000321725	D	0.90324	-2.65	5.55	1.4	0.22301	FAS1 domain (5);	0.891913	0.09738	N	0.762221	T	0.80909	0.4714	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.61768	-0.6995	10	0.12430	T	0.62	.	8.3332	0.32200	0.331:0.0:0.669:0.0	.	1203	Q9NY15	STAB1_HUMAN	Q	1203	ENSP00000312946:R1203Q	ENSP00000312946:R1203Q	R	+	2	0	STAB1	52523482	0.108000	0.22018	0.006000	0.13384	0.079000	0.17450	0.042000	0.13949	-0.037000	0.13646	0.561000	0.74099	CGG		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		5	56	0	0	0	1	0	5	56				
FMNL1	752	broad.mit.edu	37	17	43314943	43314943	+	Silent	SNP	G	G	A	rs373201342		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:43314943G>A	ENST00000331495.3	+	9	1167	c.831G>A	c.(829-831)gcG>gcA	p.A277A	FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Silent_p.A277A|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(829-831)gcG>gcA		formin-like 1		G		1,4405	2.1+/-5.4	0,1,2202	135.0	132.0	133.0		831	-7.8	0.0	17		133	0,8600		0,0,4300	no	coding-synonymous	FMNL1	NM_005892.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		277/1101	43314943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43314943G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.831G>A	17.37:g.43314943G>A						FMNL1_ENST00000328118.3_Silent_p.A277A|FMNL1_ENST00000592006.1_3'UTR	p.A277A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			9	1167	+			277			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.831G>A	CCDS11497.1																																																																																				0.607	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		55	124	0	0	0	1	0	55	124				
ZC3H7A	29066	broad.mit.edu	37	16	11850101	11850101	+	Missense_Mutation	SNP	C	C	T	rs150604583		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:11850101C>T	ENST00000396516.2	-	20	2751	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E852K|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.E48K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	852						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E852Q(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACTGTAACTTCAGCATAATCT	0.398																																						ENST00000396516.2																			1	Substitution - Missense(1)	p.E852Q(1)	skin(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2554-2556)Gaa>Aaa		zinc finger CCCH-type containing 7A							349.0	281.0	304.0					16																	11850101		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11850101C>T	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2554G>A	16.37:g.11850101C>T	ENSP00000379773:p.Glu852Lys					ZC3H7A_ENST00000575984.1_Missense_Mutation_p.E48K|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E852K	p.E852K			Q8IWR0	Z3H7A_HUMAN			20	2751	-			852					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.2554G>A	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161907	0.94727	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.39229	1.09;1.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.68593	2.085	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	T	0.59064	-0.7524	10	0.40728	T	0.16	.	19.1415	0.93448	0.0:1.0:0.0:0.0	.	852	Q8IWR0	Z3H7A_HUMAN	K	852	ENSP00000347999:E852K;ENSP00000379773:E852K	ENSP00000347999:E852K	E	-	1	0	ZC3H7A	11757602	1.000000	0.71417	0.532000	0.27989	0.879000	0.50718	7.187000	0.77730	2.758000	0.94735	0.655000	0.94253	GAA		0.398	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		40	82	0	0	0	1	0	40	82				
TBC1D16	125058	broad.mit.edu	37	17	77921464	77921464	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:77921464C>T	ENST00000310924.2	-	9	1823	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208K|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195K|TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	570	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCATGTCCTCGTCCCGGGGT	0.612																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1708-1710)Gag>Aag		TBC1 domain family, member 16							147.0	110.0	123.0					17																	77921464		2203	4300	6503	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77921464C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1708G>A	17.37:g.77921464C>T	ENSP00000309794:p.Glu570Lys					TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208K|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195K|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208K	p.E570K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		9	1823	-	all_neural(118;0.167)		570			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1708G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097836	0.76870	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04502	3.61;3.61	5.57	5.57	0.84162	Rab-GAP/TBC domain (5);	0.046101	0.85682	D	0.000000	T	0.08802	0.0218	L	0.48218	1.51	0.80722	D	1	P;P;P;P	0.43607	0.812;0.657;0.657;0.812	P;B;B;B	0.44561	0.453;0.163;0.163;0.265	T	0.39603	-0.9606	10	0.20046	T	0.44	-30.4184	19.5469	0.95302	0.0:1.0:0.0:0.0	.	230;570;570;208	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	K	208;570	ENSP00000341517:E208K;ENSP00000309794:E570K	ENSP00000309794:E570K	E	-	1	0	TBC1D16	75536059	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.472000	0.80996	2.619000	0.88677	0.561000	0.74099	GAG		0.612	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		4	89	0	0	0	1	0	4	89				
TLR1	7096	broad.mit.edu	37	4	38799112	38799112	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:38799112G>A	ENST00000502213.2	-	3	1570	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TLR1_ENST00000308979.2_Silent_p.I447I|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	447					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CAAGTACCTTGATCCTGGGAG	0.318																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1339-1341)atC>atT		toll-like receptor 1							93.0	100.0	98.0					4																	38799112		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799112G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1341C>T	4.37:g.38799112G>A						TLR1_ENST00000502213.2_Silent_p.I447I	p.I447I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1614	-			447					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1341C>T	CCDS33973.1																																																																																				0.318	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			32	50	0	0	0	1	0	32	50				
TP53BP1	7158	broad.mit.edu	37	15	43766890	43766890	+	Silent	SNP	T	T	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:43766890T>C	ENST00000263801.3	-	10	1398	c.1146A>G	c.(1144-1146)acA>acG	p.T382T	TP53BP1_ENST00000382039.3_Silent_p.T387T|TP53BP1_ENST00000450115.2_Silent_p.T387T|TP53BP1_ENST00000382044.4_Silent_p.T387T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	382					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCTTGCTCTGTGGGACTGC	0.423								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1144-1146)acA>acG	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							88.0	89.0	89.0					15																	43766890		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43766890T>C	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1146A>G	15.37:g.43766890T>C						TP53BP1_ENST00000382039.3_Silent_p.T387T|TP53BP1_ENST00000382044.4_Silent_p.T387T|TP53BP1_ENST00000450115.2_Silent_p.T387T	p.T382T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	10	1398	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	382					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1146A>G	CCDS10096.1																																																																																				0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			15	21	0	0	0	1	0	15	21				
HIPK4	147746	broad.mit.edu	37	19	40889933	40889933	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:40889933G>A	ENST00000291823.2	-	2	863	c.579C>T	c.(577-579)tgC>tgT	p.C193C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACCTTCTCGCAGAAGGGCA	0.632																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(577-579)tgC>tgT		homeodomain interacting protein kinase 4							65.0	57.0	59.0					19																	40889933		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889933G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.579C>T	19.37:g.40889933G>A							p.C193C	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	863	-			193			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.579C>T	CCDS12555.1																																																																																				0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		4	85	0	0	0	1	0	4	85				
KDM5A	5927	broad.mit.edu	37	12	416876	416876	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:416876G>A	ENST00000399788.2	-	23	4036	c.3674C>T	c.(3673-3675)aCt>aTt	p.T1225I	KDM5A_ENST00000382815.4_Missense_Mutation_p.T1225I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1225					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGACAGAATAGTCTCTAGCCT	0.483			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3673-3675)aCt>aTt		lysine (K)-specific demethylase 5A							77.0	77.0	77.0					12																	416876		1905	4110	6015	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416876G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3674C>T	12.37:g.416876G>A	ENSP00000382688:p.Thr1225Ile					KDM5A_ENST00000382815.4_Missense_Mutation_p.T1225I	p.T1225I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	4036	-			1225					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3674C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110058	0.77210	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01051	5.4;5.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	T	0.04103	-1.0977	10	0.72032	D	0.01	-17.5711	20.0973	0.97856	0.0:0.0:1.0:0.0	.	1225;1225	P29375;P29375-2	KDM5A_HUMAN;.	I	1225	ENSP00000382688:T1225I;ENSP00000372265:T1225I	ENSP00000372265:T1225I	T	-	2	0	KDM5A	287137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.445000	0.73456	2.830000	0.97506	0.585000	0.79938	ACT		0.483	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		4	62	0	0	0	1	0	4	62				
OR56A1	120796	broad.mit.edu	37	11	6048161	6048161	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:6048161G>A	ENST00000316650.5	-	1	810	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGGTGCTGAAGAAAAGAA	0.507																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(772-774)ttC>ttT		olfactory receptor, family 56, subfamily A, member 1							77.0	76.0	77.0					11																	6048161		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048161G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.774C>T	11.37:g.6048161G>A							p.F258F	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	810	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	258					B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.774C>T	CCDS31405.1																																																																																				0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		32	52	0	0	0	1	0	32	52				
ZNF211	10520	broad.mit.edu	37	19	58152857	58152857	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:58152857C>T	ENST00000347302.3	+	3	1182	c.1003C>T	c.(1003-1005)Cac>Tac	p.H335Y	ZNF211_ENST00000299871.5_Missense_Mutation_p.H400Y|ZNF211_ENST00000254182.7_Missense_Mutation_p.H326Y|ZNF211_ENST00000420680.1_Missense_Mutation_p.H339Y|ZNF211_ENST00000541801.1_Missense_Mutation_p.H326Y|ZNF211_ENST00000240731.4_Missense_Mutation_p.H348Y|ZNF211_ENST00000544273.1_Missense_Mutation_p.H347Y|ZNF211_ENST00000391703.3_Missense_Mutation_p.H274Y	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	335					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGAAAGTTCACACTGGAGA	0.458																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1039-1041)Cac>Tac		zinc finger protein 211							71.0	73.0	72.0					19																	58152857		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152857C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1003C>T	19.37:g.58152857C>T	ENSP00000339562:p.His335Tyr					ZNF211_ENST00000420680.1_Missense_Mutation_p.H339Y|ZNF211_ENST00000240731.4_Missense_Mutation_p.H348Y|ZNF211_ENST00000391703.3_Missense_Mutation_p.H274Y|ZNF211_ENST00000347302.3_Missense_Mutation_p.H335Y|ZNF211_ENST00000299871.5_Missense_Mutation_p.H400Y|ZNF211_ENST00000254182.7_Missense_Mutation_p.H326Y|ZNF211_ENST00000541801.1_Missense_Mutation_p.H326Y	p.H347Y			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1366	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	335					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1039C>T	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.16|19.16	3.774178|3.774178	0.69992|0.69992	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27|.	3.66|3.66	2.6|2.6	0.31112|0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.78123|0.78123	0.4234|0.4234	H|H	0.94183|0.94183	3.505|3.505	0.31151|0.31151	N|N	0.705441|0.705441	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.993;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.987;0.987;0.974;0.987;0.993;0.993|.	T|T	0.80236|0.80236	-0.1466|-0.1466	9|5	0.87932|.	D|.	0|.	.|.	11.5144|11.5144	0.50513|0.50513	0.1815:0.8184:0.0:0.0|0.1815:0.8184:0.0:0.0	.|.	339;347;400;326;335;348|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	Y|L	339;335;326;274;326;400;347;348|338	ENSP00000399193:H339Y;ENSP00000339562:H335Y;ENSP00000254182:H326Y;ENSP00000375584:H274Y;ENSP00000442601:H326Y;ENSP00000299871:H400Y;ENSP00000441386:H347Y;ENSP00000240731:H348Y|.	ENSP00000240731:H348Y|.	H|S	+|+	1|2	0|0	ZNF211|ZNF211	62844669|62844669	0.871000|0.871000	0.30034|0.30034	0.733000|0.733000	0.30861|0.30861	0.992000|0.992000	0.81027|0.81027	3.129000|3.129000	0.50500|0.50500	0.868000|0.868000	0.35678|0.35678	0.573000|0.573000	0.79308|0.79308	CAC|TCA		0.458	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			29	55	0	0	0	1	0	29	55				
KIAA2026	158358	broad.mit.edu	37	9	5929142	5929142	+	Silent	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:5929142C>T	ENST00000399933.3	-	6	2399	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	KIAA2026_ENST00000381461.2_Silent_p.R770R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	800										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGCTTGCCTCCGATGATACC	0.299																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2398-2400)cgG>cgA		KIAA2026							82.0	79.0	80.0					9																	5929142		1814	4073	5887	SO:0001819	synonymous_variant	158358							g.chr9:5929142C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2400G>A	9.37:g.5929142C>T						KIAA2026_ENST00000381461.2_Silent_p.R770R	p.R800R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	6	2399	-		Acute lymphoblastic leukemia(23;0.158)	800					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.2400G>A																																																																																					0.299	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	40	0	0	0	1	0	10	40				
MFSD9	84804	broad.mit.edu	37	2	103340312	103340312	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:103340312C>G	ENST00000258436.5	-	5	527	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	162					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E162K(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGTTCCTTCTCTGGAACCACA	0.498																																						ENST00000258436.5																			1	Substitution - Missense(1)	p.E162K(1)	skin(1)	breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(484-486)Gag>Cag		major facilitator superfamily domain containing 9							79.0	81.0	81.0					2																	103340312		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103340312C>G		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.484G>C	2.37:g.103340312C>G	ENSP00000258436:p.Glu162Gln						p.E162Q	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			5	527	-			162					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.484G>C	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116588	0.37339	.	.	ENSG00000135953	ENST00000258436	T	0.58797	0.31	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	L	0.59436	1.845	0.58432	D	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.66284	-0.5962	10	0.21014	T	0.42	-31.4238	18.653	0.91437	0.0:1.0:0.0:0.0	.	162	Q8NBP5	MFSD9_HUMAN	Q	162	ENSP00000258436:E162Q	ENSP00000258436:E162Q	E	-	1	0	MFSD9	102706744	1.000000	0.71417	0.937000	0.37676	0.564000	0.35744	7.337000	0.79256	2.394000	0.81467	0.467000	0.42956	GAG		0.498	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		23	63	0	0	0	1	0	23	63				
EIF4G2	1982	broad.mit.edu	37	11	10823929	10823929	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:10823929G>T	ENST00000526148.1	-	12	1560	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.F350L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F350L|EIF4G2_ENST00000396525.2_Missense_Mutation_p.F350L|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCTCCAGAAAGAAGTCACTTC	0.433																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1048-1050)ttC>ttA		eukaryotic translation initiation factor 4 gamma, 2							135.0	133.0	134.0					11																	10823929		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823929G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1050C>A	11.37:g.10823929G>T	ENSP00000433664:p.Phe350Leu					EIF4G2_ENST00000396525.2_Missense_Mutation_p.F350L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.F350L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F350L	p.F350L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1560	-			350						Missense_Mutation	SNP	ENST00000526148.1	37	c.1050C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089815	0.55968	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.28;1.94	5.77	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.56769	1.78	0.46954	D	0.999268	D;D;P	0.67145	0.996;0.993;0.9	P;P;P	0.61874	0.895;0.787;0.543	T	0.06285	-1.0835	9	0.09338	T	0.73	-6.5706	15.7537	0.78009	0.0685:0.0:0.9315:0.0	.	350;350;423	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	L	350;350;350;350;423;350	ENSP00000433664:F350L;ENSP00000433371:F350L;ENSP00000340281:F350L;ENSP00000379778:F350L;ENSP00000431583:F350L	ENSP00000340281:F350L	F	-	3	2	EIF4G2	10780505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.562000	0.67346	2.885000	0.99019	0.655000	0.94253	TTC		0.433	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		51	100	1	0	4.25531e-23	1	4.54878e-23	51	100				
OR4C13	283092	broad.mit.edu	37	11	49974168	49974168	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:49974168C>A	ENST00000555099.1	+	1	226	c.194C>A	c.(193-195)tCc>tAc	p.S65Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(193-195)tCc>tAc		olfactory receptor, family 4, subfamily C, member 13							241.0	220.0	227.0					11																	49974168		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974168C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.194C>A	11.37:g.49974168C>A	ENSP00000452277:p.Ser65Tyr						p.S65Y	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	226	+			65					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.194C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470862	0.26423	.	.	ENSG00000258817	ENST00000555099	T	0.12361	2.69	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000457	T	0.55673	0.1935	H	0.99642	4.675	0.21861	N	0.999507	D	0.89917	1.0	D	0.97110	1.0	T	0.62062	-0.6933	9	.	.	.	.	11.6719	0.51406	0.0:1.0:0.0:0.0	.	65	Q8NGP0	OR4CD_HUMAN	Y	65	ENSP00000452277:S65Y	.	S	+	2	0	OR4C13	49930744	0.047000	0.20315	0.878000	0.34440	0.071000	0.16799	3.314000	0.51943	1.646000	0.50622	0.195000	0.17529	TCC		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		74	147	1	0	1.14856e-27	1	1.23385e-27	74	147				
ZBTB44	29068	broad.mit.edu	37	11	130131665	130131665	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr11:130131665A>T	ENST00000357899.4	-	2	376	c.104T>A	c.(103-105)aTt>aAt	p.I35N	ZBTB44_ENST00000397753.1_Missense_Mutation_p.I35N|ZBTB44_ENST00000525842.1_Missense_Mutation_p.I35N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I35N			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	35	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CTGGACACGAATAGTGATATC	0.448																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(103-105)aTt>aAt		zinc finger and BTB domain containing 44							127.0	121.0	123.0					11																	130131665		1908	4126	6034	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131665A>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.104T>A	11.37:g.130131665A>T	ENSP00000350574:p.Ile35Asn					ZBTB44_ENST00000357899.4_Missense_Mutation_p.I35N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I35N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I35N	p.I35N	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	471	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	35			BTB.		Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.104T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.963142|3.963142	0.74016|0.74016	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205|ENST00000527478	T;T;T;T;T|.	0.74947|.	-0.89;-0.89;-0.89;-0.89;-0.89|.	6.07|6.07	6.07|6.07	0.98685|0.98685	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86020|.	0.5833|.	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.69078|.	0.997;0.997;0.997;0.997|.	D;D;D;D|.	0.83275|.	0.994;0.994;0.996;0.994|.	D|.	0.89265|.	0.3600|.	10|.	0.87932|.	D|.	0|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	35;35;35;35|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.	.;.;ZBT44_HUMAN;.|.	N|X	35|31	ENSP00000433457:I35N;ENSP00000380861:I35N;ENSP00000408079:I35N;ENSP00000350574:I35N;ENSP00000434177:I35N|.	ENSP00000350574:I35N|.	I|Y	-|-	2|3	0|2	ZBTB44|ZBTB44	129636875|129636875	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	8.923000|8.923000	0.92808|0.92808	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.448	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		37	83	0	0	0	1	0	37	83				
ADAMTS2	9509	broad.mit.edu	37	5	178552067	178552067	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2863-2865)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100.0	102.0	101.0					5																	178552067		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552067G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2865C>T	5.37:g.178552067G>A							p.H955H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2966	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	955			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2865C>T	CCDS4444.1																																																																																				0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	217	0	0	0	1	0	6	217				
BBS5	129880	broad.mit.edu	37	2	170349481	170349481	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:170349481G>A	ENST00000295240.3	+	6	860	c.484G>A	c.(484-486)Gat>Aat	p.D162N	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D162N|BBS5_ENST00000392663.2_Missense_Mutation_p.D162N|BBS5_ENST00000554017.1_Missense_Mutation_p.D162N	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	162					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACATGTATATGATAAAATAAA	0.328									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(484-486)Gat>Aat		Bardet-Biedl syndrome 5							103.0	104.0	104.0					2																	170349481		2203	4296	6499	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170349481G>A	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.484G>A	2.37:g.170349481G>A	ENSP00000295240:p.Asp162Asn					BBS5_ENST00000392663.2_Missense_Mutation_p.D162N|BBS5_ENST00000554017.1_Missense_Mutation_p.D162N|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D162N	p.D162N	NM_152384.2	NP_689597.1					6	860	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.484G>A	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633309	0.47049	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.73575	1.32;1.32;-0.76;1.32	5.78	4.9	0.64082	.	0.091723	0.85682	N	0.000000	T	0.56217	0.1970	N	0.11724	0.165	0.80722	D	1	B;B;B	0.27166	0.17;0.005;0.006	B;B;B	0.30401	0.115;0.009;0.015	T	0.52902	-0.8513	10	0.07175	T	0.84	-13.5625	14.8555	0.70332	0.0689:0.0:0.9311:0.0	.	162;162;162	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	N	162	ENSP00000295240:D162N;ENSP00000452313:D162N;ENSP00000376431:D162N;ENSP00000424363:D162N	ENSP00000295240:D162N	D	+	1	0	BBS5;RP11-724O16.1	170057727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.884000	0.87274	1.460000	0.47911	0.591000	0.81541	GAT		0.328	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		24	61	0	0	0	1	0	24	61				
MUC16	94025	broad.mit.edu	37	19	9087590	9087590	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:9087590C>G	ENST00000397910.4	-	1	4428	c.4225G>C	c.(4225-4227)Gag>Cag	p.E1409Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1409	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGTCTCAAATCCAGAT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4225-4227)Gag>Cag		mucin 16, cell surface associated							143.0	139.0	141.0					19																	9087590		2074	4213	6287	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087590C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4225G>C	19.37:g.9087590C>G	ENSP00000381008:p.Glu1409Gln						p.E1409Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4428	-			1409			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4225G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.203	-0.382451	0.04966	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.19	-1.85	0.07784	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.40506	0.331	T	0.47749	-0.9093	8	0.87932	D	0	.	5.2397	0.15465	0.5918:0.4082:0.0:0.0	.	1409	B5ME49	.	Q	1409	ENSP00000381008:E1409Q	ENSP00000381008:E1409Q	E	-	1	0	MUC16	8948590	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.037000	0.12164	-0.437000	0.07243	0.305000	0.20034	GAG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		41	93	0	0	0	1	0	41	93				
KRT7	3855	broad.mit.edu	37	12	52639288	52639288	+	Silent	SNP	C	C	T	rs138875857	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:52639288C>T	ENST00000331817.5	+	7	1260	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	359	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGCTGGAAGCCGCCCTGCAGC	0.652																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1075-1077)gcC>gcT		keratin 7		C		0,4406		0,0,2203	44.0	45.0	45.0		1077	-8.8	0.0	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT7	NM_005556.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		359/470	52639288	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639288C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1077C>T	12.37:g.52639288C>T						KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	p.A359A	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1260	+			359			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1077C>T	CCDS8822.1																																																																																				0.652	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		26	63	0	0	0	1	0	26	63				
BMP4	652	broad.mit.edu	37	14	54418948	54418948	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:54418948C>T	ENST00000245451.4	-	3	387		c.e3-1		BMP4_ENST00000417573.1_Splice_Site|BMP4_ENST00000558984.1_Splice_Site|BMP4_ENST00000559087.1_Splice_Site	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4						activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CATGGTGTCTCTGGGGAGGGG	0.468																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.e3-1		bone morphogenetic protein 4							36.0	39.0	38.0					14																	54418948		2203	4300	6503	SO:0001630	splice_region_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418948C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.7-1G>A	14.37:g.54418948C>T						BMP4_ENST00000417573.1_Splice_Site|BMP4_ENST00000558984.1_Splice_Site|BMP4_ENST00000559087.1_Splice_Site		NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			3	387	-								Q9UM80	Splice_Site	SNP	ENST00000245451.4	37		CCDS9715.1																																																																																				0.468	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202	Intron	20	32	0	0	0	1	0	20	32				
POLR3F	10621	broad.mit.edu	37	20	18448187	18448187	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr20:18448187G>A	ENST00000377603.4	+	1	417	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	POLR3F_ENST00000462997.1_3'UTR|DZANK1_ENST00000262547.5_5'Flank|DZANK1_ENST00000357236.4_5'Flank|DZANK1_ENST00000329494.5_5'Flank|DZANK1_ENST00000358866.6_5'Flank	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	13					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						GCCGCCTGACGCGGATCCGGT	0.632																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(37-39)Gcg>Acg		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							51.0	53.0	53.0					20																	18448187		2203	4300	6503	SO:0001583	missense	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18448187G>A	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.37G>A	20.37:g.18448187G>A	ENSP00000366828:p.Ala13Thr					POLR3F_ENST00000462997.1_3'UTR	p.A13T	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			1	417	+			13					A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.37G>A	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	G	9.730	1.162040	0.21538	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.87	4.92	0.64577	.	0.176119	0.49916	D	0.000132	T	0.26666	0.0652	N	0.08118	0	0.32104	N	0.590268	B	0.02656	0.0	B	0.04013	0.001	T	0.21415	-1.0246	9	0.14656	T	0.56	.	13.3198	0.60426	0.0767:0.0:0.9233:0.0	.	13	Q9H1D9	RPC6_HUMAN	T	13	.	ENSP00000366828:A13T	A	+	1	0	POLR3F	18396187	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.089000	0.50183	1.626000	0.50381	0.655000	0.94253	GCG		0.632	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		6	87	0	0	0	1	0	6	87				
CHAT	1103	broad.mit.edu	37	10	50824598	50824598	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr10:50824598G>C	ENST00000337653.2	+	2	490	c.337G>C	c.(337-339)Gaa>Caa	p.E113Q	CHAT_ENST00000351556.3_5'UTR|CHAT_ENST00000455728.2_5'UTR|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_5'UTR|CHAT_ENST00000339797.1_5'UTR|CHAT_ENST00000395562.2_Missense_Mutation_p.E31Q	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	113					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCCCATCCTGGAAAAGGTCCC	0.562																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(91-93)Gaa>Caa		choline O-acetyltransferase	Choline(DB00122)						105.0	77.0	86.0					10																	50824598		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50824598G>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.337G>C	10.37:g.50824598G>C	ENSP00000337103:p.Glu113Gln					CHAT_ENST00000339797.1_5'UTR|CHAT_ENST00000337653.2_Missense_Mutation_p.E113Q|CHAT_ENST00000351556.3_5'UTR|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_5'UTR|CHAT_ENST00000455728.2_5'UTR	p.E31Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	3	560	+		all_neural(218;0.107)	113					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.91G>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768712	0.49680	.	.	ENSG00000070748	ENST00000337653;ENST00000395562	D;D	0.84944	-1.88;-1.92	4.06	4.06	0.47325	.	0.759101	0.12858	N	0.433338	T	0.72779	0.3503	N	0.08118	0	0.80722	D	1	P	0.46064	0.872	B	0.42916	0.402	T	0.69202	-0.5207	10	0.19147	T	0.46	-13.1175	14.061	0.64800	0.0:0.0:1.0:0.0	.	113	P28329	CLAT_HUMAN	Q	113;31	ENSP00000337103:E113Q;ENSP00000378929:E31Q	ENSP00000337103:E113Q	E	+	1	0	CHAT	50494604	0.936000	0.31750	0.999000	0.59377	0.261000	0.26267	1.304000	0.33482	2.580000	0.87095	0.655000	0.94253	GAA		0.562	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		3	17	0	0	0	1	0	3	17				
NDST3	9348	broad.mit.edu	37	4	119148066	119148066	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr4:119148066G>A	ENST00000296499.5	+	8	2151	c.1748G>A	c.(1747-1749)aGa>aAa	p.R583K	NDST3_ENST00000433996.2_Missense_Mutation_p.R502K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	583	Heparan sulfate N-deacetylase 3.				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)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAACGCCACAGAGACATTTGG	0.368																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1747-1749)aGa>aAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							78.0	83.0	81.0					4																	119148066		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119148066G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1748G>A	4.37:g.119148066G>A	ENSP00000296499:p.Arg583Lys					NDST3_ENST00000433996.2_Missense_Mutation_p.R502K	p.R583K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			8	2151	+			583			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1748G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	6.517	0.463569	0.12402	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.52983	0.64;0.64	5.2	5.2	0.72013	.	0.049042	0.85682	D	0.000000	T	0.16471	0.0396	N	0.01209	-0.955	0.24585	N	0.993851	B;B	0.23377	0.084;0.0	B;B	0.19666	0.026;0.001	T	0.18587	-1.0332	10	0.02654	T	1	.	10.707	0.45960	0.1493:0.0:0.8506:0.0	.	502;583	B4DI67;O95803	.;NDST3_HUMAN	K	583;502	ENSP00000296499:R583K;ENSP00000396625:R502K	ENSP00000296499:R583K	R	+	2	0	NDST3	119367514	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.511000	0.53400	2.571000	0.86741	0.491000	0.48974	AGA		0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		22	45	0	0	0	1	0	22	45				
SPTAN1	6709	broad.mit.edu	37	9	131339461	131339461	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:131339461C>G	ENST00000372731.4	+	7	949	c.839C>G	c.(838-840)tCt>tGt	p.S280C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S280C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S280C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	280					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTAATGGCCTCTGATGATTTT	0.483																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(838-840)tCt>tGt		spectrin, alpha, non-erythrocytic 1							155.0	161.0	159.0					9																	131339461		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339461C>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.839C>G	9.37:g.131339461C>G	ENSP00000361816:p.Ser280Cys					SPTAN1_ENST00000358161.5_Missense_Mutation_p.S280C|SPTAN1_ENST00000372731.4_Missense_Mutation_p.S280C	p.S280C	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			7	949	+			280					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.839C>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993523	0.93167	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.57436	0.4;0.4;0.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.999	D;D;D;D;D	0.91635	0.986;0.995;0.967;0.999;0.984	T	0.82936	-0.0210	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	280;280;280;280;280	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	280	ENSP00000350882:S280C;ENSP00000361816:S280C;ENSP00000361824:S280C	ENSP00000350882:S280C	S	+	2	0	SPTAN1	130379282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCT		0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		50	129	0	0	0	1	0	50	129				
SPG11	80208	broad.mit.edu	37	15	44907628	44907628	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr15:44907628G>C	ENST00000261866.7	-	16	2987	c.2971C>G	c.(2971-2973)Caa>Gaa	p.Q991E	SPG11_ENST00000427534.2_Missense_Mutation_p.Q991E|SPG11_ENST00000535302.2_Missense_Mutation_p.Q991E|SPG11_ENST00000558319.1_Missense_Mutation_p.Q991E	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	991					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q991*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAATGAATTGAGAATGGAAA	0.423																																						ENST00000261866.7																			1	Substitution - Nonsense(1)	p.Q991*(1)	breast(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(2971-2973)Caa>Gaa		spastic paraplegia 11 (autosomal recessive)							135.0	120.0	125.0					15																	44907628		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44907628G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2971C>G	15.37:g.44907628G>C	ENSP00000261866:p.Gln991Glu					SPG11_ENST00000535302.2_Missense_Mutation_p.Q991E|SPG11_ENST00000427534.2_Missense_Mutation_p.Q991E|SPG11_ENST00000558319.1_Missense_Mutation_p.Q991E	p.Q991E	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	16	2987	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	991					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.2971C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872954	0.33069	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76709	-1.04;-0.78;-0.79	5.48	4.56	0.56223	.	1.150890	0.06142	N	0.672607	T	0.63721	0.2535	N	0.08118	0	0.80722	D	1	B;B;B;B	0.23316	0.044;0.083;0.072;0.005	B;B;B;B	0.23419	0.014;0.046;0.023;0.009	T	0.38714	-0.9648	10	0.30078	T	0.28	.	12.543	0.56182	0.0796:0.0:0.9204:0.0	.	991;991;991;991	C4B7M2;F5H3N6;Q96JI7-2;Q96JI7	.;.;.;SPTCS_HUMAN	E	991	ENSP00000261866:Q991E;ENSP00000445278:Q991E;ENSP00000396110:Q991E	ENSP00000261866:Q991E	Q	-	1	0	SPG11	42694920	0.997000	0.39634	0.930000	0.37139	0.820000	0.46376	3.092000	0.50207	2.572000	0.86782	0.591000	0.81541	CAA		0.423	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			5	58	0	0	0	1	0	5	58				
OR1F1	4992	broad.mit.edu	37	16	3254607	3254607	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:3254607G>A	ENST00000304646.2	+	1	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	121					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGGCCTATGACCACTTTGT	0.507																																						ENST00000304646.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(361-363)Gac>Aac		olfactory receptor, family 1, subfamily F, member 1							231.0	186.0	201.0					16																	3254607		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254607G>A	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.361G>A	16.37:g.3254607G>A	ENSP00000305424:p.Asp121Asn					AJ003147.9_ENST00000576468.1_RNA	p.D121N	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	361	+			121					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.361G>A	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873434	0.72180	.	.	ENSG00000168124	ENST00000304646	T	0.02140	4.43	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.12433	0.0302	H	0.97186	3.955	0.44843	D	0.997859	B	0.28636	0.218	B	0.36030	0.216	T	0.01045	-1.1470	10	0.87932	D	0	.	16.3652	0.83317	0.0:0.0:1.0:0.0	.	121	O43749	OR1F1_HUMAN	N	121	ENSP00000305424:D121N	ENSP00000305424:D121N	D	+	1	0	OR1F1	3194608	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.259000	0.95561	2.456000	0.83038	0.393000	0.25936	GAC		0.507	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			73	113	0	0	0	1	0	73	113				
KIF1B	23095	broad.mit.edu	37	1	10364320	10364320	+	Intron	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:10364320G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Missense_Mutation_p.R1026K|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R1026K|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAAGGAATGAGAAGTCAAGAT	0.453																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3076-3078)aGa>aAa		kinesin family member 1B							159.0	164.0	162.0					1																	10364320		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364320G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7016G>A	1.37:g.10364320G>A						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1026K	p.R1026K	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3230	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	619					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3077G>A		.	.	.	.	.	.	.	.	.	.	G	12.47	1.948009	0.34377	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.72282	-0.64;-0.64	5.61	4.69	0.59074	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.60747	-0.7202	8	0.62326	D	0.03	.	10.0968	0.42480	0.1691:0.0:0.8309:0.0	.	1026	O60333-3	.	K	1026	ENSP00000366297:R1026K;ENSP00000366287:R1026K	ENSP00000366287:R1026K	R	+	2	0	KIF1B	10286907	1.000000	0.71417	0.637000	0.29366	0.718000	0.41266	4.033000	0.57282	1.361000	0.45981	0.655000	0.94253	AGA		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			12	249	0	0	0	1	0	12	249				
PCDHB10	56126	broad.mit.edu	37	5	140573366	140573366	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:140573366G>C	ENST00000239446.4	+	1	1425	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGATCAGAGCCGAGTAC	0.473																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1240-1242)aGa>aCa									103.0	99.0	100.0					5																	140573366		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573366G>C	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1241G>C	5.37:g.140573366G>C	ENSP00000239446:p.Arg414Thr						p.R414T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1425	+			414			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1241G>C	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925667	0.00493	.	.	ENSG00000120324	ENST00000239446	T	0.01854	4.6	3.22	-1.86	0.07760	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	L	0.31526	0.94	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.49390	-0.8945	9	0.22109	T	0.4	.	0.6511	0.00826	0.3666:0.1233:0.1506:0.3596	.	414	Q9UN67	PCDBA_HUMAN	T	414	ENSP00000239446:R414T	ENSP00000239446:R414T	R	+	2	0	PCDHB10	140553550	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.315000	0.00254	-0.224000	0.09928	-0.389000	0.06534	AGA		0.473	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		5	159	0	0	0	1	0	5	159				
KIAA0930	23313	broad.mit.edu	37	22	45595798	45595798	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr22:45595798G>A	ENST00000336156.5	-	8	1036	c.971C>T	c.(970-972)tCg>tTg	p.S324L	MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000443310.3_Missense_Mutation_p.S306L|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S329L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S290L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	324										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GTCGTTGGCCGAGTGCGACTT	0.637																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(970-972)tCg>tTg		KIAA0930							95.0	87.0	89.0					22																	45595798		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45595798G>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.971C>T	22.37:g.45595798G>A	ENSP00000336720:p.Ser324Leu					KIAA0930_ENST00000251993.7_Missense_Mutation_p.S329L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S290L|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Missense_Mutation_p.S306L	p.S324L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			8	1036	-			324					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.971C>T	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658509	0.67586	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.997;0.957;0.999;0.999	D;B;P;P	0.67725	0.953;0.264;0.766;0.78	T	0.78510	-0.2176	9	0.87932	D	0	-31.4112	17.9977	0.89189	0.0:0.0:1.0:0.0	.	306;324;329;395	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	L	324;209;329;290;306	.	ENSP00000251993:S329L	S	-	2	0	KIAA0930	43974462	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	9.247000	0.95444	2.241000	0.73720	0.561000	0.74099	TCG		0.637	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		31	70	0	0	0	1	0	31	70				
ASAP3	55616	broad.mit.edu	37	1	23760011	23760011	+	Silent	SNP	C	C	T	rs199856800	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:23760011C>T	ENST00000336689.3	-	21	2078	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ASAP3_ENST00000437606.2_Silent_p.Q669Q|ASAP3_ENST00000495646.1_Silent_p.Q182Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	678					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGTCCCCGCCTGGGCCTGCT	0.592																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2032-2034)caG>caA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							95.0	106.0	102.0					1																	23760011		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23760011C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2034G>A	1.37:g.23760011C>T						ASAP3_ENST00000437606.2_Silent_p.Q669Q|ASAP3_ENST00000495646.1_Silent_p.Q182Q|ASAP3_ENST00000484906.1_5'UTR	p.Q678Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			21	2078	-			678					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.2034G>A	CCDS235.1																																																																																				0.592	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		57	123	0	0	0	1	0	57	123				
ADAM19	8728	broad.mit.edu	37	5	156918889	156918889	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr5:156918889G>A	ENST00000517905.1	-	17	1984	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	ADAM19_ENST00000430702.2_Missense_Mutation_p.S380F|ADAM19_ENST00000257527.4_Missense_Mutation_p.S647F|ADAM19_ENST00000394020.1_Missense_Mutation_p.S649F			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	647	Cys-rich.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGAAGGAGGTGTTCCT	0.547																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1939-1941)tCc>tTc		ADAM metallopeptidase domain 19							117.0	93.0	101.0					5																	156918889		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156918889G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1940C>T	5.37:g.156918889G>A	ENSP00000428654:p.Ser647Phe					ADAM19_ENST00000394020.1_Missense_Mutation_p.S649F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S647F|ADAM19_ENST00000430702.2_Missense_Mutation_p.S380F	p.S647F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		17	2018	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	647			Cys-rich.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1940C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.003938|5.003938	0.93287|0.93287	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.02140	.|4.43;4.54;4.57;4.53	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.12902|0.12902	0.0313|0.0313	M|M	0.70903|0.70903	2.155|2.155	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.98;0.995	T|T	0.00229|0.00229	-1.1898|-1.1898	5|10	.|0.87932	.|D	.|0	.|.	18.815|18.815	0.92073|0.92073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|647;647;380	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	S|F	218|380;647;649;647	.|ENSP00000414088:S380F;ENSP00000257527:S647F;ENSP00000377588:S649F;ENSP00000428654:S647F	.|ENSP00000257527:S647F	P|S	-|-	1|2	0|0	ADAM19|ADAM19	156851467|156851467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.751000|4.751000	0.62169|0.62169	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	CCT|TCC		0.547	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		17	37	0	0	0	1	0	17	37				
FAM161A	84140	broad.mit.edu	37	2	62067397	62067397	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr2:62067397C>T	ENST00000405894.3	-	3	843	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	FAM161A_ENST00000404929.1_Missense_Mutation_p.E248K	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	248					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTCTGTTCTCTTATCATC	0.368																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(742-744)Gaa>Aaa		family with sequence similarity 161, member A							169.0	147.0	154.0					2																	62067397		1821	4094	5915	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067397C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.742G>A	2.37:g.62067397C>T	ENSP00000385893:p.Glu248Lys					FAM161A_ENST00000405894.3_Missense_Mutation_p.E248K	p.E248K	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	753	-			248					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.742G>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803967	0.90623	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.32515	1.45;1.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.81802	2.56	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63523	-0.6618	10	0.56958	D	0.05	-9.4272	18.8158	0.92076	0.0:1.0:0.0:0.0	.	248;248	Q3B820;Q3B820-3	F161A_HUMAN;.	K	248	ENSP00000385158:E248K;ENSP00000385893:E248K	ENSP00000385158:E248K	E	-	1	0	FAM161A	61920901	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.386000	0.66238	2.515000	0.84797	0.655000	0.94253	GAA		0.368	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		24	64	0	0	0	1	0	24	64				
ZNF287	57336	broad.mit.edu	37	17	16455848	16455848	+	Silent	SNP	A	A	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:16455848A>G	ENST00000395824.1	-	6	2225	c.1608T>C	c.(1606-1608)taT>taC	p.Y536Y	ZNF287_ENST00000395825.3_Silent_p.Y536Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	529					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATTGCATTTATATGGTTTCT	0.348																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1606-1608)taT>taC		zinc finger protein 287							133.0	140.0	138.0					17																	16455848		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455848A>G	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1608T>C	17.37:g.16455848A>G						ZNF287_ENST00000395825.3_Silent_p.Y536Y	p.Y536Y			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2225	-			529					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1608T>C	CCDS11179.2																																																																																				0.348	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			36	45	0	0	0	1	0	36	45				
CDC42BPB	9578	broad.mit.edu	37	14	103410676	103410676	+	Silent	SNP	G	G	A			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:103410676G>A	ENST00000361246.2	-	30	4248	c.3960C>T	c.(3958-3960)atC>atT	p.I1320I		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGGAAGCTTGATGTCAAAGC	0.572																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3958-3960)atC>atT		CDC42 binding protein kinase beta (DMPK-like)							65.0	60.0	61.0					14																	103410676		2202	4299	6501	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410676G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3960C>T	14.37:g.103410676G>A							p.I1320I	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4248	-		Melanoma(154;0.155)	1320			CNH.			Silent	SNP	ENST00000361246.2	37	c.3960C>T	CCDS9978.1																																																																																				0.572	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		14	20	0	0	0	1	0	14	20				
C1orf35	79169	broad.mit.edu	37	1	228290723	228290723	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:228290723C>T	ENST00000272139.4	-	2	356	c.122G>A	c.(121-123)cGc>cAc	p.R41H	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	41							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTTCTGCCAGCGGCCTACCGG	0.761																																						ENST00000272139.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(121-123)cGc>cAc		chromosome 1 open reading frame 35							5.0	8.0	7.0					1																	228290723		2067	4142	6209	SO:0001583	missense	79169							g.chr1:228290723C>T	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.122G>A	1.37:g.228290723C>T	ENSP00000272139:p.Arg41His					C1orf35_ENST00000472617.1_5'UTR	p.R41H	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN			2	356	-		Prostate(94;0.0488)	41					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.122G>A	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328433	0.95733	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.99	3.99	0.46301	Kinase phosphorylation domain (1);	0.000000	0.64402	D	0.000003	T	0.81365	0.4807	M	0.91972	3.26	0.49051	D	0.999741	D	0.89917	1.0	D	0.87578	0.998	D	0.84906	0.0845	9	0.87932	D	0	-27.2364	11.1058	0.48201	0.0:0.8115:0.1885:0.0	.	41	Q9BU76	MMTA2_HUMAN	H	41	.	ENSP00000272139:R41H	R	-	2	0	C1orf35	226357346	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.362000	0.79507	2.056000	0.61249	0.313000	0.20887	CGC		0.761	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		3	7	0	0	0	1	0	3	7				
NUP205	23165	broad.mit.edu	37	7	135272732	135272732	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr7:135272732C>G	ENST00000285968.6	+	10	1491	c.1465C>G	c.(1465-1467)Caa>Gaa	p.Q489E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	489					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCGGCCCCCTCAACGCCAGGT	0.453																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1465-1467)Caa>Gaa		nucleoporin 205kDa							57.0	56.0	56.0					7																	135272732		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272732C>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1465C>G	7.37:g.135272732C>G	ENSP00000285968:p.Gln489Glu					NUP205_ENST00000440390.2_Intron	p.Q489E	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			10	1491	+			489					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1465C>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897860	0.72639	.	.	ENSG00000155561	ENST00000285968	T	0.31247	1.5	5.85	5.85	0.93711	.	0.049393	0.85682	D	0.000000	T	0.30198	0.0757	L	0.43152	1.355	0.80722	D	1	B	0.31655	0.334	B	0.34038	0.174	T	0.05699	-1.0869	10	0.10636	T	0.68	-20.8911	20.1649	0.98147	0.0:1.0:0.0:0.0	.	489	Q92621	NU205_HUMAN	E	489	ENSP00000285968:Q489E	ENSP00000285968:Q489E	Q	+	1	0	NUP205	134923272	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.701000	0.84566	2.753000	0.94483	0.655000	0.94253	CAA		0.453	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			13	26	0	0	0	1	0	13	26				
SDR9C7	121214	broad.mit.edu	37	12	57317815	57317815	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:57317815G>C	ENST00000293502.1	-	4	887	c.744C>G	c.(742-744)aaC>aaG	p.N248K		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	248					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGCATTATGTTTTTTAACT	0.483																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(742-744)aaC>aaG		short chain dehydrogenase/reductase family 9C, member 7							98.0	82.0	87.0					12																	57317815		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57317815G>C	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.744C>G	12.37:g.57317815G>C	ENSP00000293502:p.Asn248Lys						p.N248K	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			4	887	-			248					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.744C>G	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.608804	0.00121	.	.	ENSG00000170426	ENST00000293502	D	0.88741	-2.42	5.31	3.45	0.39498	NAD(P)-binding domain (1);	0.232813	0.36101	N	0.002791	T	0.74650	0.3744	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56341	-0.7995	10	0.06099	T	0.92	.	7.9855	0.30210	0.2487:0.0:0.7513:0.0	.	248	Q8NEX9	DR9C7_HUMAN	K	248	ENSP00000293502:N248K	ENSP00000293502:N248K	N	-	3	2	SDR9C7	55604082	0.017000	0.18338	0.008000	0.14137	0.028000	0.11728	1.486000	0.35530	1.388000	0.46506	-0.145000	0.13849	AAC		0.483	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		15	25	0	0	0	1	0	15	25				
TERF2	7014	broad.mit.edu	37	16	69404416	69404416	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:69404416G>T	ENST00000254942.3	-	5	826	c.810C>A	c.(808-810)caC>caA	p.H270Q	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.H270Q|TERF2_ENST00000603068.1_Missense_Mutation_p.H228Q	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	270	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CGTCATCCAGGTGGCTCTCCA	0.517																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(808-810)caC>caA		telomeric repeat binding factor 2							108.0	94.0	99.0					16																	69404416		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69404416G>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.810C>A	16.37:g.69404416G>T	ENSP00000254942:p.His270Gln					TERF2_ENST00000567296.2_Missense_Mutation_p.H270Q|TERF2_ENST00000603068.1_Missense_Mutation_p.H228Q|TERF2_ENST00000569611.2_5'UTR	p.H270Q	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			5	826	-		Ovarian(137;0.101)	228						Missense_Mutation	SNP	ENST00000254942.3	37	c.810C>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.054892	0.75960	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.65	5.65	0.86999	Telomere repeat-binding factor, dimerisation domain (4);	0.171403	0.49305	D	0.000147	T	0.60958	0.2309	N	0.24115	0.695	0.43819	D	0.996383	D;D	0.76494	0.975;0.999	P;D	0.65140	0.488;0.932	T	0.57353	-0.7826	9	0.29301	T	0.29	-13.8323	15.2365	0.73436	0.0:0.0:1.0:0.0	.	228;228	Q15554-2;Q15554	.;TERF2_HUMAN	Q	228	.	ENSP00000254942:H228Q	H	-	3	2	TERF2	67961917	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.690000	0.37711	2.661000	0.90470	0.650000	0.86243	CAC		0.517	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			15	17	1	0	1.52009e-12	1	1.60907e-12	15	17				
WASF2	10163	broad.mit.edu	37	1	27736222	27736222	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:27736222C>T	ENST00000430629.2	-	8	1518	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	435					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTACGGGCATCGCTCACGGCA	0.562																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1303-1305)Gat>Aat		WAS protein family, member 2							81.0	76.0	78.0					1																	27736222		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736222C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1303G>A	1.37:g.27736222C>T	ENSP00000396211:p.Asp435Asn					WASF2_ENST00000536657.1_Intron	p.D435N	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1518	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	435					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.1303G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019727	0.93462	.	.	ENSG00000158195	ENST00000430629	T	0.49432	0.78	4.69	4.69	0.59074	.	0.167354	0.51477	D	0.000100	T	0.68778	0.3038	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.60949	0.881	T	0.75554	-0.3277	10	0.66056	D	0.02	-7.6316	17.2232	0.86963	0.0:1.0:0.0:0.0	.	435	Q9Y6W5	WASF2_HUMAN	N	435	ENSP00000396211:D435N	ENSP00000396211:D435N	D	-	1	0	WASF2	27608809	1.000000	0.71417	0.982000	0.44146	0.978000	0.69477	7.394000	0.79862	2.161000	0.67846	0.637000	0.83480	GAT		0.562	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		4	74	0	0	0	1	0	4	74				
STAT3	6774	broad.mit.edu	37	17	40490751	40490751	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr17:40490751C>T	ENST00000264657.5	-	6	860	c.548G>A	c.(547-549)gGa>gAa	p.G183E	STAT3_ENST00000588969.1_Missense_Mutation_p.G183E|STAT3_ENST00000404395.3_Missense_Mutation_p.G183E|STAT3_ENST00000585517.1_Missense_Mutation_p.G183E|STAT3_ENST00000389272.3_Missense_Mutation_p.G85E	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	183					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCACTTGCCTCCTTGACTCTT	0.343									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(547-549)gGa>gAa		signal transducer and activator of transcription 3 (acute-phase response factor)							120.0	121.0	121.0					17																	40490751		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40490751C>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.548G>A	17.37:g.40490751C>T	ENSP00000264657:p.Gly183Glu					STAT3_ENST00000389272.3_Missense_Mutation_p.G85E|STAT3_ENST00000404395.3_Missense_Mutation_p.G183E|STAT3_ENST00000588969.1_Missense_Mutation_p.G183E|STAT3_ENST00000585517.1_Missense_Mutation_p.G183E	p.G183E	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	6	860	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	183					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.548G>A	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392725	0.42410	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.57595	0.39;0.39;0.39	5.32	5.32	0.75619	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	2.135100	0.01403	N	0.013684	T	0.45034	0.1322	N	0.12746	0.255	0.80722	D	1	B;B;B	0.27013	0.042;0.166;0.166	B;B;B	0.34385	0.114;0.181;0.181	T	0.35748	-0.9776	10	0.02654	T	1	-28.0468	19.014	0.92886	0.0:1.0:0.0:0.0	.	183;183;183	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	E	183;85;183	ENSP00000264657:G183E;ENSP00000373923:G85E;ENSP00000384943:G183E	ENSP00000264657:G183E	G	-	2	0	STAT3	37744277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.486000	0.83907	0.563000	0.77884	GGA		0.343	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		22	29	0	0	0	1	0	22	29				
PLCH2	9651	broad.mit.edu	37	1	2428982	2428982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:2428982delA	ENST00000419816.2	+	16	2432	c.2158delA	c.(2158-2160)aacfs	p.N720fs	PLCH2_ENST00000378486.3_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000449969.1_Frame_Shift_Del_p.N693fs|PLCH2_ENST00000378488.3_Intron|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	720	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCTGCAGCTGAACCGAGCCAA	0.642																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(2077-2079)acfs		phospholipase C, eta 2							20.0	24.0	22.0					1																	2428982		2136	4199	6335	SO:0001589	frameshift_variant	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2428982delA	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2158delA	1.37:g.2428982delA	ENSP00000389803:p.Asn720fs					PLCH2_ENST00000419816.2_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000378488.3_Intron|PLCH2_ENST00000378486.3_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron	p.N693fs			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	16	2238	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	720			PI-PLC Y-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Frame_Shift_Del	DEL	ENST00000419816.2	37	c.2077delA																																																																																					0.642	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		2	4						2	4	---	---	---	---
HEYL	26508	broad.mit.edu	37	1	40092420	40092420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr1:40092420delC	ENST00000372852.3	-	5	1065	c.746delG	c.(745-747)cgcfs	p.R249fs	HEYL_ENST00000535435.1_Frame_Shift_Del_p.R221fs	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	249	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTAGGGGGCGGGCCCTCCG	0.692																																						ENST00000372852.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(745-747)ccfs		hes-related family bHLH transcription factor with YRPW motif-like							6.0	8.0	7.0					1																	40092420		2137	4186	6323	SO:0001589	frameshift_variant	26508				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092420delC	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.746delG	1.37:g.40092420delC	ENSP00000361943:p.Arg249fs					HEYL_ENST00000535435.1_Frame_Shift_Del_p.R221fs	p.R249fs	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	1065	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	249			Pro-rich.		Q5TG99	Frame_Shift_Del	DEL	ENST00000372852.3	37	c.746delG	CCDS439.1																																																																																				0.692	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		2	4						2	4	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545704	66545704	+	lincRNA	DEL	C	C	-	rs12353356|rs200777983	byFrequency	TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr9:66545704delC	ENST00000445604.2	-	0	669																											GAAAAAAAAACAAAGAAAGAA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545704delC																													9.37:g.66545704delC														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			3	3						3	3	---	---	---	---
LOC101927058	101927058	broad.mit.edu	37	12	43018865	43018867	+	lincRNA	DEL	TTC	TTC	-			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr12:43018865_43018867delTTC	ENST00000550337.1	-	0	752																											ctcttcttctttcttcttcttct	0.453																																						ENST00000550337.1																			0																																																			101927058							g.chr12:43018865_43018867delTTC																													12.37:g.43018874_43018876delTTC														0	752	-									RNA	DEL	ENST00000550337.1	37																																																																																						0.453	RP11-609L23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404160.2			2	4						2	4	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs542749146|rs374461730|rs57620493		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388																																						ENST00000548261.1																			0																																																			0							g.chr14:20138376delG																													14.37:g.20138376delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	4						3	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			2	4						2	4	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			650655							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
NACC1	112939	broad.mit.edu	37	19	13246599	13246599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61I-01A-11D-A30E-08	TCGA-IQ-A61I-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe4a060a-a901-4c5a-aee3-829275162fb1	9409c484-c855-40cc-955d-49eecc0a065e	g.chr19:13246599delC	ENST00000292431.4	+	2	704	c.578delC	c.(577-579)gctfs	p.A193fs		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	193					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CAGAAGGAGGCTGGGGGCGGC	0.701																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(577-579)gtfs		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							6.0	6.0	6.0					19																	13246599		1963	3934	5897	SO:0001589	frameshift_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246599delC	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.578delC	19.37:g.13246599delC	ENSP00000292431:p.Ala193fs						p.A193fs	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	704	+			193						Frame_Shift_Del	DEL	ENST00000292431.4	37	c.578delC	CCDS12294.1																																																																																				0.701	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		2	4						2	4	---	---	---	---
