#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
USP34	9736	broad.mit.edu	37	2	61633100	61633100	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:61633100T>G	ENST00000398571.2	-	3	371	c.295A>C	c.(295-297)Aat>Cat	p.N99H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	99					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCTTGATTACTCTCATCT	0.353																																						ENST00000398571.2											0			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(295-297)Aat>Cat	ubiquitin specific peptidase 34						189.0	171.0	177.0					2																	61633100		1876	4108	5984	SO:0001583	missense	9736			positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633100T>G	AB011142	AB011142	CCDS42686.1	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	20066	20066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615295	615295	"""ubiquitin specific protease 34"""		"""ubiquitin specific protease 34"""			12838346	12838346	Standard	Standard	NM_014709	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	uc002sbe.3	Q70CQ2	Q70CQ2	OTTHUMG00000152265	OTTHUMG00000152265	ENST00000398571.2:c.295A>C	2.37:g.61633100T>G	ENSP00000381577:p.Asn99His			p.N99H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	371	-			99		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.295A>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307229	0.40795	.	.	ENSG00000115464	ENST00000398571	T	0.14893	2.47	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	T	0.16128	0.0388	L	0.29908	0.895	0.36594	D	0.874275	P	0.50943	0.94	B	0.41723	0.365	T	0.05370	-1.0889	9	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	99	Q70CQ2	UBP34_HUMAN	H	99	ENSP00000381577:N99H	ENSP00000381577:N99H	N	-	1	0	0	USP34	61486604	61486604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.371000	0.80710	0.533000	0.62120	AAT		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		-19.368888	7	7	146	146			3	6.605565	6.605565	103	0.028302	0	0	0	1	0	3	103	0.028302
LCAT	3931	broad.mit.edu	37	16	67976291	67976291	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr16:67976291G>A	ENST00000264005.5	-	5	752	c.723C>T	c.(721-723)atC>atT	p.I241I	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	241					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCATGGGCTTGATGGAGCCAC	0.587																																						ENST00000264005.5											0			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16						c.(721-723)atC>atT	lecithin-cholesterol acyltransferase						49.0	54.0	53.0					16																	67976291		2198	4300	6498	SO:0001819	synonymous_variant	3931			cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976291G>A			CCDS10854.1	CCDS10854.1	16q22.1	2012-10-02			2012-10-02			ENSG00000213398	ENSG00000213398	ENSG00000213398	ENSG00000213398	2.3.1.43			6522	6522	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606967	606967								Standard	Standard	NM_000229	NM_000229		Approved		uc002euy.1	uc002euy.1	P04180	P04180	OTTHUMG00000137551	OTTHUMG00000137551	ENST00000264005.5:c.723C>T	16.37:g.67976291G>A				p.I241I	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	752	-		Ovarian(137;0.0563)	241		Q53XQ3	Silent	SNP	ENST00000264005.5	37	c.723C>T	CCDS10854.1																																																																																									0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		6.780515	-16	-16	28	28			4	10.222445	10.222445	24	0.142857	0	0	0	1	0	4	24	0.142857
ZFYVE19	84936	broad.mit.edu	37	15	41099958	41099958	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:41099958A>G	ENST00000355341.4	+	1	672	c.171A>G	c.(169-171)ccA>ccG	p.P57P	ZFYVE19_ENST00000299173.10_Silent_p.P57P|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	57					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAAGGGGCCCAGGACTTGGCC	0.677																																						ENST00000355341.4											0			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(169-171)ccA>ccG	zinc finger, FYVE domain containing 19						33.0	43.0	40.0					15																	41099958		2032	4192	6224	SO:0001819	synonymous_variant	84936					zinc ion binding	g.chr15:41099958A>G	AK027746	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02			2008-05-02				ENSG00000166140		ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	"""Zinc fingers, FYVE domain containing"""	20758	20758	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001077268	NM_001077268		Approved	FLJ14840	uc031qrk.1	uc031qrk.1	Q96K21	Q96K21			ENST00000355341.4:c.171A>G	15.37:g.41099958A>G			ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron	p.P57P	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	672	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	57		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.171A>G	CCDS42025.1																																																																																									0.677	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1		27.041210	0	0	23	23	NM_032850		10	27.544911	27.544911	18	0.357143	0	0	0	1	0	10	18	0.357143
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93.0	90.0	91.0					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		76.893558	6	6	60	60			24	77.268912	77.268912	34	0.413793	0	0	0	1	0	24	34	0.413793
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	rs370172429		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16249	0.0		0.0	False		,,,				2504	0.0					ENST00000524871.1											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2299-2301)Cgc>Tgc	contactin 5	C	CYS/ARG,CYS/ARG	1,3835		0,1,1917	87.0	85.0	85.0		2299,2077	5.5	1.0	11		85	0,8262		0,0,4131	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	180,180	0,1,6048	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging	767/1101,693/1027	100141958	1,12097	1918	4131	6049	SO:0001583	missense	53942			cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141958C>T	AB013802	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			2013-02-11			ENSG00000149972	ENSG00000149972	ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	2175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607219	607219								Standard	Standard	NM_014361	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	uc021qpb.1	O94779	O94779	OTTHUMG00000167579	OTTHUMG00000167579	ENST00000524871.1:c.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys		CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2589	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	767		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2299C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	0	CNTN5	99647168	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		38.296185	11	11	35	35	NM_014361		12	38.484032	38.484032	17	0.413793	0	0	0	1	0	12	17	0.413793
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		95.935905	-1	-1	111	111	NM_002072		30	96.591659	96.591659	45	0.400000	0	0	0	1	0	30	45	0.4
MAOB	4129	broad.mit.edu	37	X	43703012	43703012	+	Splice_Site	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:43703012T>A	ENST00000378069.4	-	2	194		c.e2-2		MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CTGCCATACCTGGGAGAAAAG	0.502																																						ENST00000378069.4											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.e2-2	monoamine oxidase B						67.0	55.0	59.0					X																	43703012		2203	4300	6503	SO:0001630	splice_region_variant	4129			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43703012T>A			CCDS14261.1	CCDS14261.1	Xp11.4-p11.3	2008-02-05			2008-02-05			ENSG00000069535	ENSG00000069535	ENSG00000069535	ENSG00000069535	1.4.3.4			6834	6834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			309860	309860								Standard	Standard	NM_000898	NM_000898		Approved		uc004dfz.4	uc004dfz.4	P27338	P27338	OTTHUMG00000021388	OTTHUMG00000021388	ENST00000378069.4:c.47-2A>T	X.37:g.43703012T>A			MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site		NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			2	194	-					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Splice_Site	SNP	ENST00000378069.4	37		CCDS14261.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490090	0.84962	.	.	ENSG00000069535	ENST00000378069	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7115	0.69235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MAOB	43587956	43587956	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.579000	0.67457	1.855000	0.53841	0.486000	0.48141	.		0.502	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1		24.489050	14	14	72	72	NM_000898	Intron	11	29.924941	29.924941	48	0.186441	0	0	0	1	0	11	48	0.186441
SLCO2B1	11309	broad.mit.edu	37	11	74876892	74876892	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:74876892C>G	ENST00000289575.5	+	4	741	c.346C>G	c.(346-348)Cga>Gga	p.R116G	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCACCGACCCCGAATGATTGG	0.572																																						ENST00000289575.5											0			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(346-348)Cga>Gga	solute carrier organic anion transporter family, member 2B1						159.0	151.0	154.0					11																	74876892		2200	4293	6493	SO:0001583	missense	11309			sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876892C>G	AB026256	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26	2013-05-22	2003-11-25	2003-11-26						"""Solute carriers"""	"""Solute carriers"""	10962	10962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604988	604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9				Standard	Standard	NM_007256	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	uc001owb.3	O94956	O94956			ENST00000289575.5:c.346C>G	11.37:g.74876892C>G	ENSP00000289575:p.Arg116Gly		SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR	p.R116G	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN			4	741	+			116		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.346C>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095852	0.56075	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.24	4.24	0.50183	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.74943	0.3783	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82617	-0.0369	9	.	.	.	.	14.1582	0.65430	0.0:1.0:0.0:0.0	.	116	O94956	SO2B1_HUMAN	G	116;94;94;94	ENSP00000289575:R116G;ENSP00000436513:R94G;ENSP00000433872:R94G;ENSP00000388912:R94G	.	R	+	1	2	2	SLCO2B1	74554540	74554540	1.000000	0.71417	0.918000	0.36340	0.145000	0.21501	5.160000	0.64929	2.180000	0.69256	0.563000	0.77884	CGA		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		-14.249385	-14	-14	147	147	NM_007256		9	17.765186	17.765186	147	0.057692	0	0	0	1	0	9	147	0.057692
DCAF11	80344	broad.mit.edu	37	14	24589052	24589052	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr14:24589052C>T	ENST00000446197.3	+	11	1766	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	347					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGACCCCAAGCCTGTGGGTGC	0.562																																						ENST00000446197.3											0										c.(1039-1041)Cct>Tct	DDB1 and CUL4 associated factor 11						57.0	48.0	51.0					14																	24589052		2203	4300	6503	SO:0001583	missense	0				CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589052C>T	AF130070	AF130070	CCDS9610.1, CCDS41929.1	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	20258	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613317	613317	"""WD repeat domain 23"""	WDR23	"""WD repeat domain 23"""	WDR23				Standard	Standard	NM_025230	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	uc001wlv.3	Q8TEB1	Q8TEB1	OTTHUMG00000028793	OTTHUMG00000028793	ENST00000446197.3:c.1039C>T	14.37:g.24589052C>T	ENSP00000415556:p.Pro347Ser		DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S	p.P347S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1766	+			347		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.1039C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.077330	0.94000	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.64676	1.99	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.926;0.999;1.0	D;D;P;D;D	0.73708	0.981;0.932;0.793;0.974;0.976	T	0.65376	-0.6183	10	0.21014	T	0.42	-14.0051	17.9218	0.88969	0.0:1.0:0.0:0.0	.	270;321;247;347;347	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	347;321;247;321	ENSP00000380142:P247S;ENSP00000380146:P321S	ENSP00000323680:P347S	P	+	1	0	0	DCAF11	23658892	23658892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CCT		0.562	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		19.819725	3	3	26	26			7	19.935772	19.935772	10	0.411765	0	0	0	1	0	7	10	0.411765
ACP2	53	broad.mit.edu	37	11	47261683	47261683	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:47261683C>T	ENST00000256997.3	-	11	1372	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	419					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GTGGTCCTCCCCATCTGCGAC	0.652																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(1255-1257)gGg>gAg	acid phosphatase 2, lysosomal						83.0	62.0	69.0					11																	47261683		2201	4298	6499	SO:0001583	missense	53				integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47261683C>T	X15525	X15525	CCDS7928.1, CCDS44583.1	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			2008-02-05			ENSG00000134575	ENSG00000134575	ENSG00000134575	ENSG00000134575	3.1.3.2			123	123	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171650	171650						975882	975882	Standard	Standard	NM_001610	NM_001610		Approved		uc001nei.3	uc001nei.3	P11117	P11117	OTTHUMG00000166949	OTTHUMG00000166949	ENST00000256997.3:c.1256G>A	11.37:g.47261683C>T	ENSP00000256997:p.Gly419Glu		ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR	p.G419E	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN			11	1372	-			419		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.1256G>A	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663225	0.47572	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929	T;T;T;T;T	0.10960	3.16;3.01;3.18;2.82;3.01	5.97	4.05	0.47172	5.97	4.05	0.47172	.	0.156132	0.56097	D	0.000025	T	0.06050	0.0157	N	0.08118	0	0.37141	D	0.901701	B;B;B;B	0.11235	0.003;0.003;0.003;0.004	B;B;B;B	0.13407	0.009;0.009;0.005;0.008	T	0.31503	-0.9941	10	0.30078	T	0.28	.	11.7446	0.51813	0.139:0.7276:0.1334:0.0	.	356;387;391;419	E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;PPAL_HUMAN	E	419;356;387;232;409;391	ENSP00000256997:G419E;ENSP00000436658:G356E;ENSP00000432205:G387E;ENSP00000441933:G232E;ENSP00000432439:G391E	ENSP00000256997:G419E	G	-	2	0	0	ACP2	47218259	47218259	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.317000	0.43770	0.802000	0.34089	0.655000	0.94253	GGG		0.652	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2		6.814365	-7	-7	58	58	NM_001610		6	15.134153	15.134153	49	0.109091	0	0	0	1	0	6	49	0.109091
RPS9	6203	ucsc.edu	37	19	54705418	54705418	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr19:54705418G>A	ENST00000302907.4	+	3	333	c.161G>A	c.(160-162)cGc>cAc	p.R54H	RPS9_ENST00000441429.1_Missense_Mutation_p.R54H|RPS9_ENST00000402367.1_Missense_Mutation_p.R54H|RPS9_ENST00000391753.2_Missense_Mutation_p.R54H|RPS9_ENST00000391751.3_Missense_Mutation_p.R54H|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000391752.1_Missense_Mutation_p.R54H	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	54					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GCCAAGATCCGCAAGGCCGCC	0.612																																																	0																	36.0	34.0	35.0					19																	54705418		2203	4300	6503	SO:0001583	missense	6203							U14971	U14971	CCDS12884.1	CCDS12884.1	19q13.4	2011-04-05			2011-04-05			ENSG00000170889	ENSG00000170889	ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	"""S ribosomal proteins"""	10442	10442	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	"""40S ribosomal protein S9"""	603631	603631						7772601, 9582194	7772601, 9582194	Standard	Standard	XM_005259135	XM_005259135		Approved	S9	uc002qdx.3	uc002qdx.3	P46781	P46781	OTTHUMG00000066618	OTTHUMG00000066618	ENST00000302907.4:c.161G>A	19.37:g.54705418G>A	ENSP00000302896:p.Arg54His																	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37		CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362016	0.82353	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	4.33	4.33	0.51752	4.33	4.33	0.51752	Ribosomal protein S4/S9, N-terminal (1);	0.054323	0.85682	D	0.000000	T	0.79986	0.4541	H	0.98314	4.2	0.80722	D	1	D;D;B;P	0.59767	0.982;0.986;0.279;0.907	P;P;B;B	0.51833	0.681;0.561;0.103;0.408	D	0.88272	0.2930	10	0.66056	D	0.02	-20.45	15.1108	0.72355	0.0:0.0:1.0:0.0	.	54;54;54;54	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	H	54	ENSP00000302896:R54H;ENSP00000375632:R54H;ENSP00000383937:R54H;ENSP00000375631:R54H;ENSP00000375633:R54H;ENSP00000414314:R54H	ENSP00000302896:R54H	R	+	2	0	0	RPS9	59397230	59397230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.874000	0.92363	2.356000	0.79943	0.462000	0.41574	CGC		0.612	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3			-2	-2	27	27	NM_001013		4			23							4	23	
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCGAGCGCATCAACACC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3											0			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(391-393)cGc>cAc	potassium channel, subfamily K, member 3						86.0	78.0	81.0					2																	26950643		2203	4300	6503	SO:0001583	missense	3777			synaptic transmission	integral to plasma membrane		g.chr2:26950643G>A	AF006823	AF006823	CCDS1727.1	CCDS1727.1	2p23	2012-03-07			2012-03-07			ENSG00000171303	ENSG00000171303	ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	6278	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603220	603220						9312005, 9721223, 16382106	9312005, 9721223, 16382106	Standard	Standard	NM_002246	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	uc002rhn.2	O14649	O14649	OTTHUMG00000125530	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His			p.R131H	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	517	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.392G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	0	KCNK3	26804147	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2		-7.025675	-8	-8	62	62	NM_002246		3	6.418006	6.418006	59	0.048387	0	0	0	1	0	3	59	0.048387
G6PD	2539	broad.mit.edu	37	X	153761236	153761236	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:153761236G>A	ENST00000393564.2	-	9	1084	c.972C>T	c.(970-972)gaC>gaT	p.D324D	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.D370D|G6PD_ENST00000393562.2_Silent_p.D354D	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	324					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.D354D(1)|p.D324D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGGGGTCGTCCAGGTACC	0.617																																						ENST00000393562.2											2	Substitution - coding silent(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1060-1062)gaC>gaT	glucose-6-phosphate dehydrogenase						81.0	65.0	71.0					X																	153761236		2203	4300	6503	SO:0001819	synonymous_variant	2539			cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153761236G>A	X03674	X03674	CCDS14756.2, CCDS44023.1	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			2014-09-17			ENSG00000160211	ENSG00000160211	ENSG00000160211	ENSG00000160211	1.1.1.49			4057	4057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			305900	305900						3012556, 2428611	3012556, 2428611	Standard	Standard	NM_000402	NM_000402		Approved	G6PD1	uc004flx.1	uc004flx.1	P11413	P11413	OTTHUMG00000024237	OTTHUMG00000024237	ENST00000393564.2:c.972C>T	X.37:g.153761236G>A			G6PD_ENST00000393564.2_Silent_p.D324D|G6PD_ENST00000369620.2_Silent_p.D370D	p.D354D	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			9	1445	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.1062C>T	CCDS44023.1																																																																																									0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3		-11.843682	-11	-11	93	93	NM_000402		4	6.994016	6.994016	82	0.046512	0	0	0	1	0	4	82	0.046512
SLC5A12	159963	broad.mit.edu	37	11	26725463	26725463	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:26725463G>A	ENST00000396005.3	-	5	866	c.557C>T	c.(556-558)gCa>gTa	p.A186V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	186					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CATCTGAAATGCATCTGTCCA	0.423																																						ENST00000396005.3											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(556-558)gCa>gTa	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						216.0	192.0	200.0					11																	26725463		2203	4299	6502	SO:0001583	missense	159963			sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725463G>A	BC049207	BC049207	CCDS7860.2	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942	ENSG00000148942	ENSG00000148942		"""Solute carriers"""	"""Solute carriers"""	28750	28750	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612455	612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""		"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	12477932	Standard	Standard	NM_178498	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	uc001mra.2	Q1EHB4	Q1EHB4	OTTHUMG00000150706	OTTHUMG00000150706	ENST00000396005.3:c.557C>T	11.37:g.26725463G>A	ENSP00000379326:p.Ala186Val		SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	866	-			186		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.557C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374686	0.11409	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87103	-2.21;-2.21	5.16	4.24	0.50183	5.16	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	N	0.00521	-1.4	0.50313	D	0.999869	B;B	0.25609	0.006;0.13	B;B	0.36666	0.023;0.23	T	0.68142	-0.5487	10	0.02654	T	1	.	14.0444	0.64695	0.0748:0.0:0.9252:0.0	.	186;186	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	186	ENSP00000379326:A186V;ENSP00000280467:A186V	ENSP00000280467:A186V	A	-	2	0	0	SLC5A12	26682039	26682039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.859000	0.55987	2.412000	0.81896	0.484000	0.47621	GCA		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1		200.037092	23	23	172	172	NM_178498		66	200.03877	200.038770	67	0.496241	0	0	0	1	0	66	67	0.496241
CNST	163882	broad.mit.edu	37	1	246823587	246823587	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr1:246823587A>G	ENST00000366513.4	+	10	2192	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	641					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AACACAAACCATCTAAGCGAA	0.428																																						ENST00000366513.4											0			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1921-1923)ccA>ccG	consortin, connexin sorting protein						181.0	164.0	170.0					1																	246823587		2203	4300	6503	SO:0001819	synonymous_variant	163882			positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246823587A>G	AK056563	AK056563	CCDS1628.1, CCDS44343.1	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	26486	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	"""protein phosphatase 1, regulatory subunit 64"""	613439	613439	"""chromosome 1 open reading frame 71"""	C1orf71	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	19864490	Standard	Standard	NM_152609	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	uc001ibp.3	Q6PJW8	Q6PJW8	OTTHUMG00000040090	OTTHUMG00000040090	ENST00000366513.4:c.1923A>G	1.37:g.246823587A>G				p.P641P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			10	2192	+			641		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1923A>G	CCDS1628.1																																																																																									0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		141.202139	-22	-22	93	93	NM_152609		47	143.605281	143.605281	85	0.356061	0	0	0	1	0	47	85	0.356061
POU2AF1	5450	ucsc.edu	37	11	111229639	111229639	+	Silent	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:111229639T>A	ENST00000393067.3	-	2	535	c.21A>T	c.(19-21)acA>acT	p.T7T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	7					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCTCCGGAGCTGTGGCTGTGA	0.627			T	BCL6	NHL																																			Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	0																	48.0	49.0	48.0					11																	111229639		2201	4297	6498	SO:0001819	synonymous_variant	5450									CCDS31675.1	CCDS31675.1	11q23.1	2011-06-01	2007-07-13		2011-06-01	2007-07-13			ENSG00000110777		ENSG00000110777				9211	9211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601206	601206	"""POU domain class 2, associating factor 1"""		"""POU domain class 2, associating factor 1"""			8617501	8617501	Standard	Standard	NM_006235	NM_006235		Approved	OBF1	uc001plg.4	uc001plg.4	Q16633	Q16633			ENST00000393067.3:c.21A>T	11.37:g.111229639T>A																		B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37		CCDS31675.1																																																																																									0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1			-17	-17	33	33	NM_006235		4			31							4	31	
RUNDC1	146923	broad.mit.edu	37	17	41143307	41143307	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr17:41143307G>A	ENST00000361677.1	+	5	1428	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCATGCACCCGTGGGAGCTCT	0.577																																						ENST00000361677.1											0			breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1414-1416)ccG>ccA	RUN domain containing 1						60.0	60.0	60.0					17																	41143307		2203	4300	6503	SO:0001819	synonymous_variant	146923						g.chr17:41143307G>A	AL831813	AL831813	CCDS11448.1	CCDS11448.1	17q21.31	2004-02-27			2004-02-27				ENSG00000198863		ENSG00000198863				25418	25418	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_173079	NM_173079		Approved	DKFZp761H0421	uc002ici.1	uc002ici.1	Q96C34	Q96C34			ENST00000361677.1:c.1416G>A	17.37:g.41143307G>A				p.P472P	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1428	+		Breast(137;0.00499)	472	RUN.	Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.1416G>A	CCDS11448.1																																																																																									0.577	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1		22.783535	-9	-9	67	67	NM_173079		11	29.957548	29.957548	56	0.164179	0	0	0	1	0	11	56	0.164179
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448																																						ENST00000322366.6											0			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3379-3381)Cgc>Tgc	WD repeat and FYVE domain containing 3						131.0	132.0	132.0					4																	85715780		2203	4300	6503	SO:0001583	missense	23001				cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715780G>A	AB023210	AB023210	CCDS3609.1	CCDS3609.1	4q21.3	2013-01-09			2013-01-09			ENSG00000163625	ENSG00000163625	ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	20751	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10231032	10231032	Standard	Standard	NM_014991	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	uc003hpd.3	Q8IZQ1	Q8IZQ1	OTTHUMG00000130424	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys		WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C	p.R1127C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3786	-		Hepatocellular(203;0.114)	1127		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3379C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	0	WDFY3	85934804	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		-24.014769	21	21	130	130	NM_014991		4	6.792541	6.792541	124	0.031250	0	0	0	1	0	4	124	0.03125
PKHD1L1	93035	broad.mit.edu	37	8	110503272	110503286	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-	rs182303219	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr8:110503272_110503286delATTTGGGACAGATGG	ENST00000378402.5	+	61	10160_10174	c.10056_10070delATTTGGGACAGATGG	c.(10054-10071)gtatttgggacagatgga>gta	p.FGTDG3353del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3353					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTGGTGTATTTGGGACAGATGGATTGGACATA	0.381										HNSCC(38;0.096)																												ENST00000378402.5											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10054-10071)gtatttgggacagatgga>gta	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																			SO:0001651	inframe_deletion	93035			immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503272_110503286delATTTGGGACAGATGG	AY219181	AY219181	CCDS47911.1	CCDS47911.1	8q23	2003-03-28			2003-03-28			ENSG00000205038	ENSG00000205038	ENSG00000205038	ENSG00000205038				20313	20313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607843	607843						12620974	12620974	Standard	Standard	NM_177531	NM_177531		Approved		uc003yne.3	uc003yne.3	Q86WI1	Q86WI1	OTTHUMG00000164934	OTTHUMG00000164934	ENST00000378402.5:c.10056_10070delATTTGGGACAGATGG	8.37:g.110503272_110503286delATTTGGGACAGATGG	ENSP00000367655:p.Phe3353_Gly3357del			p.FGTDG3353del	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10160_10174	+			3353		Q567P2|Q9UF27	In_Frame_Del	DEL	ENST00000378402.5	37	c.10056_10070delATTTGGGACAGATGG	CCDS47911.1																																																																																									0.381	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	.	.	28	28	78	78	NM_177531		8			62	0.11						8	62	0.11
