#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
APOB	338	broad.mit.edu	37	2	21229684	21229684	+	Silent	SNP	G	G	T	rs369022661		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:21229684G>T	ENST00000233242.1	-	26	10183	c.10056C>A	c.(10054-10056)acC>acA	p.T3352T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3352					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCAGCATTGGTATTCAGTG	0.368																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10054-10056)acC>acA		apolipoprotein B	Atorvastatin(DB01076)	G		0,4406		0,0,2203	106.0	103.0	104.0		10056	2.6	1.0	2		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		3352/4564	21229684	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229684G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10056C>A	2.37:g.21229684G>T							p.T3352T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10183	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3352					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10056C>A	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			38	58	1	0	6.05902e-23	1	6.55029e-23	38	58				
LCT	3938	broad.mit.edu	37	2	136564700	136564700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:136564700G>A	ENST00000264162.2	-	9	4181	c.4171C>T	c.(4171-4173)Cag>Tag	p.Q1391*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1391	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCTCACCTGATATGCAGCA	0.572																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4171-4173)Cag>Tag		lactase							109.0	88.0	95.0					2																	136564700		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136564700G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4171C>T	2.37:g.136564700G>A	ENSP00000264162:p.Gln1391*						p.Q1391*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	9	4181	-			1391			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.4171C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881305	0.98539	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.6403	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	X	1391;823	.	ENSP00000264162:Q1391X	Q	-	1	0	LCT	136281170	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CAG		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	19	0	0	0	1	0	19	19				
LRRN2	10446	broad.mit.edu	37	1	204587841	204587841	+	Missense_Mutation	SNP	C	C	T	rs138573874		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:204587841C>T	ENST00000367175.1	-	1	3492	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	427	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGGAAGCTTCGTGGGGAGAT	0.652																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1279-1281)cGa>cAa		leucine rich repeat neuronal 2		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	36.0	33.0	34.0		1280,1280	5.4	1.0	1	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	427/714,427/714	204587841	1,13005	2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587841C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1280G>A	1.37:g.204587841C>T	ENSP00000356143:p.Arg427Gln					LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q	p.R427Q			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3492	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		427			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1280G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694857	0.30052	0.0	1.16E-4	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.59772	0.24;0.24;0.24	5.37	5.37	0.77165	Immunoglobulin-like (1);	0.000000	0.41396	D	0.000894	T	0.37210	0.0995	N	0.17631	0.505	0.34676	D	0.724248	B	0.28208	0.203	B	0.24394	0.053	T	0.47169	-0.9138	10	0.27082	T	0.32	.	7.401	0.26965	0.0:0.7917:0.0:0.2083	.	427	O75325	LRRN2_HUMAN	Q	427	ENSP00000356144:R427Q;ENSP00000356145:R427Q;ENSP00000356143:R427Q	ENSP00000356143:R427Q	R	-	2	0	LRRN2	202854464	0.004000	0.15560	1.000000	0.80357	0.925000	0.55904	0.529000	0.23019	2.518000	0.84900	0.467000	0.42956	CGA		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		8	14	0	0	0	1	0	8	14				
CACNA1D	776	broad.mit.edu	37	3	53766101	53766101	+	Missense_Mutation	SNP	A	A	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr3:53766101A>G	ENST00000350061.5	+	18	2976	c.2465A>G	c.(2464-2466)gAt>gGt	p.D822G	CACNA1D_ENST00000288139.4_Missense_Mutation_p.D842G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	822					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCCTTGCGATGTGCCAGGT	0.557																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2524-2526)gAt>gGt		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						83.0	77.0	79.0					3																	53766101		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53766101A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2465A>G	3.37:g.53766101A>G	ENSP00000288133:p.Asp822Gly					CACNA1D_ENST00000350061.5_Missense_Mutation_p.D822G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G	p.D842G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2643	+			822					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2525A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211191	0.58343	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96265	-3.92;-3.95;-3.94;-3.96	5.96	5.96	0.96718	.	.	.	.	.	D	0.93822	0.8024	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	D	0.90533	0.4497	9	0.33141	T	0.24	.	14.1748	0.65534	1.0:0.0:0.0:0.0	.	822;515;822;842	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	822;842;822;515	ENSP00000288133:D822G;ENSP00000288139:D842G;ENSP00000409174:D822G;ENSP00000418014:D515G	ENSP00000288139:D842G	D	+	2	0	CACNA1D	53741141	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.581000	0.82535	2.270000	0.75569	0.533000	0.62120	GAT		0.557	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		3	41	0	0	0	1	0	3	41				
TMEM79	84283	broad.mit.edu	37	1	156261208	156261208	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:156261208G>A	ENST00000405535.2	+	4	1175	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank|TMEM79_ENST00000357501.2_Silent_p.P96P|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	335					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GCCGTGGGCCGCTCCTTCCGA	0.587																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(1003-1005)cGc>cAc		transmembrane protein 79							111.0	106.0	108.0					1																	156261208		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156261208G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1004G>A	1.37:g.156261208G>A	ENSP00000384748:p.Arg335His					C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H|TMEM79_ENST00000357501.2_Silent_p.P96P	p.R335H	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			4	1175	+	Hepatocellular(266;0.158)		335					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.1004G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973980	0.53720	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.49139	0.79;0.79	5.7	4.79	0.61399	.	0.052687	0.85682	D	0.000000	T	0.43634	0.1256	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.52749	-0.8534	10	0.62326	D	0.03	-4.8324	13.4047	0.60906	0.0761:0.0:0.9239:0.0	.	335	Q9BSE2	TMM79_HUMAN	H	335	ENSP00000295694:R335H;ENSP00000384748:R335H	ENSP00000295694:R335H	R	+	2	0	TMEM79	154527832	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	7.008000	0.76341	1.418000	0.47098	-0.136000	0.14681	CGC		0.587	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		4	93	0	0	0	1	0	4	93				
COL12A1	1303	broad.mit.edu	37	6	75893695	75893695	+	Missense_Mutation	SNP	G	G	A	rs201657256		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr6:75893695G>A	ENST00000322507.8	-	9	1472	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	388	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTGAGCGTGGTTGTCTG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18350	0.0		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1162-1164)aCg>aTg		collagen, type XII, alpha 1							139.0	135.0	137.0					6																	75893695		2024	4188	6212	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893695G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1163C>T	6.37:g.75893695G>A	ENSP00000325146:p.Thr388Met					COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron	p.T388M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			9	1472	-			388			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1163C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.092	-0.408120	0.04832	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.31	-1.88	0.07713	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.000480	0.08065	N	0.998966	T	0.18383	0.0441	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.24728	-1.0152	10	0.48119	T	0.1	.	6.7736	0.23607	0.5112:0.1219:0.3669:0.0	.	388;388	D6RGG3;Q99715	.;COCA1_HUMAN	M	388	ENSP00000325146:T388M;ENSP00000412864:T388M;ENSP00000421216:T388M	ENSP00000325146:T388M	T	-	2	0	COL12A1	75950415	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	0.028000	0.13644	-0.841000	0.04200	-0.982000	0.02568	ACG		0.512	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	112	0	0	0	1	0	5	112				
DNM1P47	100216544	broad.mit.edu	37	15	102294652	102294652	+	RNA	SNP	G	G	A	rs559508583		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr15:102294652G>A	ENST00000561463.1	+	0	2698									DNM1 pseudogene 47																		CAGAGCTGCTGTCCAACCTGC	0.592																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294652G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294652G>A														0	2698	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	5	0	0	0	1	0	5	5				
KAT6A	7994	broad.mit.edu	37	8	41792302	41792302	+	Silent	SNP	A	A	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:41792302A>G	ENST00000396930.3	-	18	3979	c.3436T>C	c.(3436-3438)Ttg>Ctg	p.L1146L	KAT6A_ENST00000406337.1_Silent_p.L1146L|KAT6A_ENST00000265713.2_Silent_p.L1146L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1146					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTCTTTTTCAAAGGTGTGGAT	0.428																																						ENST00000396930.3																			0											c.(3436-3438)Ttg>Ctg		K(lysine) acetyltransferase 6A							191.0	205.0	200.0					8																	41792302		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792302A>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3436T>C	8.37:g.41792302A>G						KAT6A_ENST00000406337.1_Silent_p.L1146L|KAT6A_ENST00000265713.2_Silent_p.L1146L	p.L1146L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	3979	-			1146					Q76L81	Silent	SNP	ENST00000396930.3	37	c.3436T>C	CCDS6124.1																																																																																				0.428	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		36	184	0	0	0	1	0	36	184				
KRTAP10-3	386682	broad.mit.edu	37	21	45978220	45978220	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr21:45978220G>A	ENST00000391620.1	-	1	423	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GAgcagacgggcacacagcag	0.657																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(379-381)Ccc>Tcc		keratin associated protein 10-3							163.0	163.0	163.0					21																	45978220		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978220G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.379C>T	21.37:g.45978220G>A	ENSP00000375478:p.Pro127Ser					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P127S	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	423	-			127			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.379C>T	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	4.656	0.121921	0.08931	.	.	ENSG00000212935	ENST00000391620	T	0.01279	5.06	3.53	2.63	0.31362	.	.	.	.	.	T	0.03783	0.0107	L	0.58510	1.815	0.09310	N	0.999994	P	0.47484	0.896	P	0.53988	0.739	T	0.40739	-0.9547	9	0.39692	T	0.17	.	8.549	0.33440	0.121:0.0:0.879:0.0	.	127	P60369	KR103_HUMAN	S	127	ENSP00000375478:P127S	ENSP00000375478:P127S	P	-	1	0	KRTAP10-3	44802648	0.759000	0.28416	0.128000	0.21923	0.207000	0.24258	1.736000	0.38187	1.964000	0.57103	0.561000	0.74099	CCC		0.657	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			4	174	0	0	0	1	0	4	174				
OR7G2	390882	broad.mit.edu	37	19	9213131	9213131	+	Silent	SNP	C	C	T	rs547475191		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr19:9213131C>T	ENST00000305456.2	-	1	851	c.852G>A	c.(850-852)gtG>gtA	p.V284V		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	263						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTCAGTAACCACAGAACTAA	0.468													-|||	1	0.000199681	0.0	0.0	5008	,	,		20366	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(850-852)gtG>gtA		olfactory receptor, family 7, subfamily G, member 2							115.0	102.0	106.0					19																	9213131		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213131C>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.852G>A	19.37:g.9213131C>T							p.V284V	NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN			1	851	-			263					Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.852G>A	CCDS32897.1																																																																																				0.468	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			3	45	0	0	0	1	0	3	45				
SKIV2L2	23517	broad.mit.edu	37	5	54674238	54674238	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:54674238T>G	ENST00000230640.5	+	17	2161	c.1907T>G	c.(1906-1908)tTg>tGg	p.L636W	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	636					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTTGCCAAATTGGGTAAAGAA	0.313																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1906-1908)tTg>tGg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							55.0	59.0	58.0					5																	54674238		2202	4292	6494	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54674238T>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1907T>G	5.37:g.54674238T>G	ENSP00000230640:p.Leu636Trp					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W	p.L636W	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			17	2161	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	636					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1907T>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674859	0.88445	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.35973	1.28;1.31	5.75	5.75	0.90469	.	0.145139	0.47852	D	0.000213	T	0.65450	0.2692	M	0.89715	3.055	0.58432	D	0.999999	D;D	0.57899	0.976;0.981	P;P	0.62014	0.853;0.897	T	0.73366	-0.4005	10	0.66056	D	0.02	-27.4038	16.0262	0.80548	0.0:0.0:0.0:1.0	.	535;636	F5H7E2;P42285	.;SK2L2_HUMAN	W	636;535	ENSP00000230640:L636W;ENSP00000442583:L535W	ENSP00000230640:L636W	L	+	2	0	SKIV2L2	54709995	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.641000	0.83368	2.179000	0.69175	0.533000	0.62120	TTG		0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			7	67	0	0	0	1	0	7	67				
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGCCAGCCGCGGCAGGGTCAG	0.637													g|||	253	0.0505192	0.0068	0.0908	5008	,	,		47818	0.0079		0.1213	False		,,,				2504	0.0521					ENST00000412448.1																			0																																																			2679							g.chr22:18769203G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769203G>A														0	1083	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	48	0	0	0	1	0	6	48				
LZTS3	9762	broad.mit.edu	37	20	3146605	3146605	+	Silent	SNP	C	C	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr20:3146605C>T	ENST00000329152.3	-	2	2258	c.861G>A	c.(859-861)tcG>tcA	p.S287S	LZTS3_ENST00000360342.3_Silent_p.S287S|LZTS3_ENST00000337576.5_Silent_p.S287S			O60299	LZTS3_HUMAN		287	Poly-Ser.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TAGATGACGACGACCCACTCT	0.692																																						ENST00000329152.3																			0											c.(859-861)tcG>tcA									30.0	30.0	30.0					20																	3146605		2190	4281	6471	SO:0001819	synonymous_variant	9762							g.chr20:3146605C>T																												ENST00000329152.3:c.861G>A	20.37:g.3146605C>T						LZTS3_ENST00000360342.3_Silent_p.S287S|LZTS3_ENST00000337576.5_Silent_p.S287S	p.S287S	NM_014731.2	NP_055546.1					2	2258	-								A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	c.861G>A	CCDS13049.1																																																																																				0.692	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			12	32	0	0	0	1	0	12	32				
GRIP1	23426	broad.mit.edu	37	12	66923631	66923631	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr12:66923631G>A	ENST00000398016.3	-	5	550	c.482C>T	c.(481-483)aCc>aTc	p.T161I	GRIP1_ENST00000359742.4_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAAACCAAAGGTATTGCCTTC	0.343																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(481-483)aCc>aTc		glutamate receptor interacting protein 1							125.0	116.0	119.0					12																	66923631		1834	4079	5913	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66923631G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.482C>T	12.37:g.66923631G>A	ENSP00000381098:p.Thr161Ile					GRIP1_ENST00000398016.3_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I	p.T161I			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	5	722	-			161			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.482C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966579	0.74131	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.38	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.055515	0.64402	D	0.000002	T	0.15305	0.0369	N	0.16166	0.38	0.54753	D	0.999989	P;P;P	0.46512	0.879;0.692;0.879	P;P;P	0.47941	0.562;0.459;0.562	T	0.09185	-1.0686	9	.	.	.	-18.265	16.3727	0.83370	0.0:0.0:1.0:0.0	.	161;161;161	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	I	161;161;161;32;161;105;105;134;105;105;187	ENSP00000381098:T161I;ENSP00000352780:T161I;ENSP00000286445:T161I;ENSP00000443006:T32I;ENSP00000446047:T161I;ENSP00000446024:T105I;ENSP00000446011:T105I;ENSP00000439124:T134I;ENSP00000438500:T105I;ENSP00000443392:T105I;ENSP00000438921:T187I	.	T	-	2	0	GRIP1	65209898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.571000	0.67404	2.474000	0.83562	0.557000	0.71058	ACC		0.343	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			7	58	0	0	0	1	0	7	58				
OR52I1	390037	broad.mit.edu	37	11	4615553	4615553	+	Silent	SNP	C	C	A	rs186190896	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr11:4615553C>A	ENST00000530443.2	+	1	285	c.285C>A	c.(283-285)tcC>tcA	p.S95S	OR52I1_ENST00000450052.2_Silent_p.S119S	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACAGCTCCATCAGCTTTA	0.512													C|||	8	0.00159744	0.0053	0.0	5008	,	,		22842	0.001		0.0	False		,,,				2504	0.0					ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(355-357)tcC>tcA		olfactory receptor, family 52, subfamily I, member 1		C		11,4391	16.8+/-37.8	0,11,2190	176.0	165.0	169.0		285	2.1	1.0	11		169	0,8596		0,0,4298	no	coding-synonymous	OR52I1	NM_001005169.1		0,11,6488	AA,AC,CC		0.0,0.2499,0.0846		95/325	4615553	11,12987	2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615553C>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.285C>A	11.37:g.4615553C>A						OR52I1_ENST00000530443.2_Silent_p.S95S	p.S119S			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	357	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	95					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.357C>A	CCDS59223.1																																																																																				0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		4	112	1	0	0.014758	1	0.0151364	4	112				
UGT3A2	167127	broad.mit.edu	37	5	36049138	36049138	+	Silent	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:36049138G>A	ENST00000282507.3	-	4	797	c.696C>T	c.(694-696)ggC>ggT	p.G232G	UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	232					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCCTAGAGCCTTCTGTGA	0.438																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(694-696)ggC>ggT		UDP glycosyltransferase 3 family, polypeptide A2							148.0	149.0	148.0					5																	36049138		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049138G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.696C>T	5.37:g.36049138G>A						UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	p.G232G	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	797	-	all_lung(31;0.000179)		232					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.696C>T	CCDS3914.1																																																																																				0.438	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		34	46	0	0	0	1	0	34	46				
HOXD11	3237	broad.mit.edu	37	2	176973665	176973665	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:176973665G>A	ENST00000249504.5	+	2	882	c.812G>A	c.(811-813)tGt>tAt	p.C271Y	HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	271					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AAAAAGCGCTGTCCCTATACC	0.577			T	NUP98	AML																																	ENST00000249504.5				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		0											c.(811-813)tGt>tAt		homeobox D11							83.0	91.0	88.0					2																	176973665		2203	4300	6503	SO:0001583	missense	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973665G>A		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.812G>A	2.37:g.176973665G>A	ENSP00000249504:p.Cys271Tyr					HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	p.C271Y	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	882	+			271					A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	c.812G>A	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031443	0.75504	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96041	-3.89	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.38217	U	0.001772	D	0.95940	0.8678	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97054	0.9766	10	0.87932	D	0	.	19.2199	0.93791	0.0:0.0:1.0:0.0	.	271	P31277	HXD11_HUMAN	Y	271;92	ENSP00000249504:C271Y	ENSP00000249504:C271Y	C	+	2	0	HOXD11	176681911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.847000	0.99503	2.552000	0.86080	0.603000	0.83216	TGT		0.577	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			5	69	0	0	0	1	0	5	69				
TRIM16	10626	broad.mit.edu	37	17	15554470	15554470	+	Missense_Mutation	SNP	C	C	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:15554470C>G	ENST00000578237.1	-	6	1309	c.454G>C	c.(454-456)Gac>Cac	p.D152H	RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000416464.2_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.D152H|TRIM16_ENST00000581224.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	152					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGGCAACAGTCCTGGCAGATG	0.602																																						ENST00000455584.2																			0											c.(454-456)Gac>Cac									122.0	111.0	115.0					17																	15554470		2203	4300	6503	SO:0001583	missense	10626							g.chr17:15554470C>G	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.454G>C	17.37:g.15554470C>G	ENSP00000463188:p.Asp152His					TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.D152H|TRIM16_ENST00000581224.1_Intron	p.D152H							1	497	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.454G>C	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.92|16.92	3.256151|3.256151	0.59321|0.59321	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708|ENST00000455584	T|.	0.46451|.	0.87|.	5.54|5.54	4.55|4.55	0.56014|0.56014	Zinc finger, B-box (3);|.	0.213009|.	0.38436|.	U|.	0.001688|.	T|T	0.32585|0.32585	0.0834|0.0834	N|N	0.16833|0.16833	0.445|0.445	0.25226|0.25226	N|N	0.989868|0.989868	P;P|.	0.47545|.	0.897;0.794|.	P;P|.	0.57548|.	0.823;0.478|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.39692|.	T|.	0.17|.	.|.	14.0731|14.0731	0.64872|0.64872	0.0:0.8478:0.1522:0.0|0.0:0.8478:0.1522:0.0	.|.	152;166|.	O95361;Q59EB2|.	TRI16_HUMAN;.|.	H|S	152|166	ENSP00000338989:D152H|.	ENSP00000338989:D152H|.	D|R	-|-	1|3	0|2	TRIM16|RP11-385D13.1	15495195|15495195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.465000|1.465000	0.35299|0.35299	1.309000|1.309000	0.44985|0.44985	0.563000|0.563000	0.77884|0.77884	GAC|AGG		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		3	38	0	0	0	1	0	3	38				
RAD54B	25788	broad.mit.edu	37	8	95479758	95479758	+	Missense_Mutation	SNP	A	A	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:95479758A>T	ENST00000336148.5	-	2	134	c.10T>A	c.(10-12)Tct>Act	p.S4T	RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	4					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGTGCTGCAGATCGTCTCATA	0.373								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(10-12)Tct>Act	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							112.0	110.0	111.0					8																	95479758		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95479758A>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.10T>A	8.37:g.95479758A>T	ENSP00000336606:p.Ser4Thr					RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T	p.S4T	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		2	134	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.10T>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537176	0.65085	.	.	ENSG00000197275	ENST00000336148;ENST00000523839;ENST00000297592	D;T;T	0.91351	-2.83;0.21;0.45	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	D	0.91828	0.7414	L	0.29908	0.895	0.53005	D	0.999962	D;D	0.76494	0.999;0.993	D;D	0.83275	0.996;0.971	D	0.92769	0.6230	10	0.87932	D	0	-8.4832	12.8601	0.57908	1.0:0.0:0.0:0.0	.	4;4	F6WBS8;Q9Y620	.;RA54B_HUMAN	T	4	ENSP00000336606:S4T;ENSP00000428554:S4T;ENSP00000430153:S4T	ENSP00000430153:S4T	S	-	1	0	RAD54B	95548934	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	5.203000	0.65174	2.010000	0.58986	0.459000	0.35465	TCT		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		35	53	0	0	0	1	0	35	53				
AKAP5	9495	broad.mit.edu	37	14	64936274	64936274	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:64936274T>G	ENST00000394718.4	+	2	1540	c.1162T>G	c.(1162-1164)Tat>Gat	p.Y388D	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.Y388D	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	388					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTCAGAACAATATGAAACACT	0.338																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1162-1164)Tat>Gat		A kinase (PRKA) anchor protein 5							96.0	107.0	103.0					14																	64936274		2202	4300	6502	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936274T>G	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1162T>G	14.37:g.64936274T>G	ENSP00000378207:p.Tyr388Asp					ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.Y388D	p.Y388D			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2450	+			388					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1162T>G	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873379	0.72180	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.55588	0.51;0.51	5.51	5.51	0.81932	.	0.000000	0.48767	D	0.000164	T	0.61702	0.2368	L	0.29908	0.895	0.36024	D	0.838924	D	0.89917	1.0	D	0.87578	0.998	T	0.71487	-0.4578	10	0.87932	D	0	-16.3176	14.1604	0.65443	0.0:0.0:0.0:1.0	.	388	P24588	AKAP5_HUMAN	D	388	ENSP00000378207:Y388D;ENSP00000315615:Y388D	ENSP00000315615:Y388D	Y	+	1	0	AKAP5	64006027	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.242000	0.51384	2.217000	0.71921	0.482000	0.46254	TAT		0.338	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			7	116	0	0	0	1	0	7	116				
ACTR3C	653857	broad.mit.edu	37	7	149990455	149990455	+	Silent	SNP	T	T	C			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr7:149990455T>C	ENST00000539352.1	-	3	350	c.99A>G	c.(97-99)acA>acG	p.T33T	ACTR3C_ENST00000252071.4_Silent_p.T33T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	33						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T33T(1)									TCCCCGTTAATGTACGTTCAC	0.468																																						ENST00000539352.1																			1	Substitution - coding silent(1)	p.T33T(1)	kidney(1)								c.(97-99)acA>acG		ARP3 actin-related protein 3 homolog C (yeast)							165.0	135.0	144.0					7																	149990455		692	1591	2283	SO:0001819	synonymous_variant	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149990455T>C		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.99A>G	7.37:g.149990455T>C						ACTR3C_ENST00000252071.4_Silent_p.T33T	p.T33T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN			3	350	-			33					Q5CZI4	Silent	SNP	ENST00000539352.1	37	c.99A>G	CCDS47744.1																																																																																				0.468	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			3	15	0	0	0	1	0	3	15				
FBF1	85302	broad.mit.edu	37	17	73914285	73914285	+	Missense_Mutation	SNP	T	T	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:73914285T>G	ENST00000586717.1	-	20	2435	c.2162A>C	c.(2161-2163)gAc>gCc	p.D721A	FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	721					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GACCTCTCGGTCCTTCAGCAG	0.672																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2161-2163)gAc>gCc		Fas (TNFRSF6) binding factor 1							29.0	38.0	35.0					17																	73914285		2112	4231	6343	SO:0001583	missense	85302							g.chr17:73914285T>G	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2162A>C	17.37:g.73914285T>G	ENSP00000465132:p.Asp721Ala					FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A	p.D721A			A6NLR5	A6NLR5_HUMAN			20	2435	-			720					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2162A>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.474916	0.84640	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20463	2.07;2.07	5.19	5.19	0.71726	.	.	.	.	.	T	0.43299	0.1241	M	0.71581	2.175	0.46376	D	0.999018	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.91;0.973;0.998	T	0.28427	-1.0044	9	0.40728	T	0.16	-26.2472	11.4003	0.49866	0.0:0.0:0.1513:0.8487	.	735;721;720	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	A	721;721;720;734	ENSP00000374221:D721A;ENSP00000324292:D720A	ENSP00000324292:D720A	D	-	2	0	FBF1	71425880	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.806000	0.55583	1.954000	0.56735	0.460000	0.39030	GAC		0.672	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	10	0	0	0	1	0	3	10				
ARHGAP39	80728	broad.mit.edu	37	8	145773409	145773409	+	Missense_Mutation	SNP	C	C	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:145773409C>T	ENST00000276826.5	-	4	1262	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	354	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGGAACGGCCGGGGCTTACG	0.697																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1060-1062)cGg>cAg		Rho GTPase activating protein 39							14.0	14.0	14.0					8																	145773409		2171	4240	6411	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773409C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1061G>A	8.37:g.145773409C>T	ENSP00000276826:p.Arg354Gln					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q	p.R354Q			Q9C0H5	RHG39_HUMAN			4	1262	-			354			Pro-rich.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1061G>A		.	.	.	.	.	.	.	.	.	.	C	1.068	-0.670761	0.03403	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.67523	-0.27;-0.0;-0.27	4.95	-0.116	0.13555	.	1.553630	0.03081	N	0.158461	T	0.40347	0.1113	N	0.14661	0.345	0.09310	N	1	B;B	0.32188	0.245;0.359	B;B	0.21360	0.015;0.034	T	0.17837	-1.0356	10	0.18710	T	0.47	-15.8464	0.402	0.00427	0.1881:0.2055:0.2255:0.3809	.	354;354	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	354	ENSP00000276826:R354Q;ENSP00000366522:R354Q;ENSP00000445075:R354Q	ENSP00000276826:R354Q	R	-	2	0	ARHGAP39	145744217	0.007000	0.16637	0.000000	0.03702	0.047000	0.14425	1.579000	0.36536	0.062000	0.16340	0.655000	0.94253	CGG		0.697	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			8	7	0	0	0	1	0	8	7				
RSG1	79363	broad.mit.edu	37	1	16558644	16558644	+	Missense_Mutation	SNP	C	C	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:16558644C>G	ENST00000375599.3	-	5	1095	c.676G>C	c.(676-678)Gac>Cac	p.D226H	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	226	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TGGGCAACGTCGGCCAGCCCA	0.687																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(676-678)Gac>Cac		REM2 and RAB-like small GTPase 1							42.0	45.0	44.0					1																	16558644		2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16558644C>G	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.676G>C	1.37:g.16558644C>G	ENSP00000364749:p.Asp226His						p.D226H	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			5	1095	-			226			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.676G>C	CCDS171.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251711	0.59212	.	.	ENSG00000132881	ENST00000375599	T	0.58506	0.33	5.47	5.47	0.80525	.	0.101850	0.64402	D	0.000003	T	0.63236	0.2494	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.65573	0.936	T	0.65100	-0.6250	10	0.49607	T	0.09	-29.7484	16.8326	0.85948	0.0:1.0:0.0:0.0	.	226	Q9BU20	RSG1_HUMAN	H	226	ENSP00000364749:D226H	ENSP00000364749:D226H	D	-	1	0	RSG1	16431231	1.000000	0.71417	0.070000	0.20053	0.106000	0.19336	5.514000	0.67043	2.553000	0.86117	0.655000	0.94253	GAC		0.687	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		4	27	0	0	0	1	0	4	27				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		3	40	0	0	0	1	0	3	40				
TRIM62	55223	broad.mit.edu	37	1	33612992	33612992	+	Missense_Mutation	SNP	G	G	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:33612992G>A	ENST00000291416.5	-	5	1447	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	405	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GTTAAGCCGCGTCCAGGGCTC	0.587																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1213-1215)aCg>aTg		tripartite motif containing 62							88.0	86.0	87.0					1																	33612992		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612992G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1214C>T	1.37:g.33612992G>A	ENSP00000291416:p.Thr405Met					TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M	p.T405M	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1447	-		Myeloproliferative disorder(586;0.0393)	405			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1214C>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218945	0.79464	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.71934	-0.61;-0.61	5.68	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	M	0.88310	2.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86819	0.2003	10	0.52906	T	0.07	.	12.3042	0.54891	0.0826:0.0:0.9174:0.0	.	405	Q9BVG3	TRI62_HUMAN	M	405;284	ENSP00000291416:T405M;ENSP00000441173:T284M	ENSP00000291416:T405M	T	-	2	0	TRIM62	33385579	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.996000	0.88334	1.397000	0.46682	0.436000	0.28706	ACG		0.587	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		19	18	0	0	0	1	0	19	18				
SSX5	6758	broad.mit.edu	37	X	48049618	48049618	+	Silent	SNP	C	C	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chrX:48049618C>A	ENST00000376923.1	-	5	416	c.417G>T	c.(415-417)ctG>ctT	p.L139L	SSX5_ENST00000311798.1_Silent_p.L180L|SSX5_ENST00000347757.1_Silent_p.L139L			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGAGGGGCGCAGCTGTTTCC	0.463																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(538-540)ctG>ctT		synovial sarcoma, X breakpoint 5							160.0	141.0	147.0					X																	48049618		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48049618C>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.417G>T	X.37:g.48049618C>A						SSX5_ENST00000347757.1_Silent_p.L139L|SSX5_ENST00000376923.1_Silent_p.L139L	p.L180L	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			7	592	-			139					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.540G>T	CCDS14289.1																																																																																				0.463	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		7	146	1	0	0.0293803	1	0.0293803	7	146				
USP32	84669	broad.mit.edu	37	17	58303433	58303433	+	Missense_Mutation	SNP	T	T	C			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:58303433T>C	ENST00000300896.4	-	13	1593	c.1399A>G	c.(1399-1401)Act>Gct	p.T467A	USP32_ENST00000592339.1_Missense_Mutation_p.T137A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	467	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGATGCAGTAGAAATGTTG	0.433																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1399-1401)Act>Gct		ubiquitin specific peptidase 32							119.0	118.0	118.0					17																	58303433		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58303433T>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1399A>G	17.37:g.58303433T>C	ENSP00000300896:p.Thr467Ala					USP32_ENST00000592339.1_Missense_Mutation_p.T137A	p.T467A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		13	1593	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		467			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1399A>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435621	0.43224	.	.	ENSG00000170832	ENST00000300896	T	0.42900	0.96	5.17	-0.303	0.12792	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.368487	0.32719	N	0.005728	T	0.23014	0.0556	N	0.22421	0.69	0.80722	D	1	B	0.15141	0.012	B	0.18263	0.021	T	0.16070	-1.0415	10	0.08179	T	0.78	.	11.1001	0.48168	0.6424:0.0:0.0:0.3576	.	467	Q8NFA0	UBP32_HUMAN	A	467	ENSP00000300896:T467A	ENSP00000300896:T467A	T	-	1	0	USP32	55658215	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.178000	0.31981	-0.058000	0.13177	-0.516000	0.04426	ACT		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		32	54	0	0	0	1	0	32	54				
ELFN2	114794	broad.mit.edu	37	22	37769955	37769955	+	Missense_Mutation	SNP	C	C	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr22:37769955C>G	ENST00000402918.2	-	3	2405	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	540					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTTGTCCACCTCCTTGGCAA	0.642																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1618-1620)gaG>gaC		extracellular leucine-rich repeat and fibronectin type III domain containing 2							96.0	91.0	93.0					22																	37769955		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769955C>G	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1620G>C	22.37:g.37769955C>G	ENSP00000385277:p.Glu540Asp					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E540D	p.E540D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2405	-	Melanoma(58;0.0574)		540					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1620G>C	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872802	0.51695	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.34859	1.34;1.34	4.79	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.74647	2.275	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.60229	-0.7304	10	0.87932	D	0	-32.2706	10.6204	0.45476	0.0:0.8413:0.0:0.1587	.	540	Q5R3F8	PPR29_HUMAN	D	540	ENSP00000300147:E540D;ENSP00000385277:E540D	ENSP00000300147:E540D	E	-	3	2	ELFN2	36099901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.599000	0.36751	0.971000	0.38288	0.511000	0.50034	GAG		0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		6	76	0	0	0	1	0	6	76				
ST6GALNAC1	55808	broad.mit.edu	37	17	74621461	74621461	+	Missense_Mutation	SNP	A	A	G			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:74621461A>G	ENST00000156626.7	-	9	1953	c.1754T>C	c.(1753-1755)aTc>aCc	p.I585T	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	585					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTACAGCCGGATTATCCCTTC	0.537																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1753-1755)aTc>aCc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							67.0	54.0	58.0					17																	74621461		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621461A>G	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1754T>C	17.37:g.74621461A>G	ENSP00000156626:p.Ile585Thr						p.I585T	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1953	-			585					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1754T>C	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883291	0.51908	.	.	ENSG00000070526	ENST00000156626	T	0.35605	1.3	5.07	5.07	0.68467	.	0.215485	0.40728	N	0.001028	T	0.61085	0.2319	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.66933	-0.5798	10	0.87932	D	0	-31.4875	15.1407	0.72609	1.0:0.0:0.0:0.0	.	585	Q9NSC7	SIA7A_HUMAN	T	585	ENSP00000156626:I585T	ENSP00000156626:I585T	I	-	2	0	ST6GALNAC1	72133056	1.000000	0.71417	0.516000	0.27786	0.048000	0.14542	6.577000	0.74027	2.042000	0.60477	0.533000	0.62120	ATC		0.537	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		15	18	0	0	0	1	0	15	18				
FLG	2312	broad.mit.edu	37	1	152282021	152282021	+	Missense_Mutation	SNP	G	G	A	rs201021216		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:152282021G>A	ENST00000368799.1	-	3	5376	c.5341C>T	c.(5341-5343)Cgc>Tgc	p.R1781C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1781	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1781C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCTGTGCGTCCATGGGCG	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1781C(1)	endometrium(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5341-5343)Cgc>Tgc		filaggrin							211.0	217.0	215.0					1																	152282021		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282021G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5341C>T	1.37:g.152282021G>A	ENSP00000357789:p.Arg1781Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1781C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5376	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1781			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5341C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713188	0.30413	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	4.51	-1.39	0.08997	.	.	.	.	.	T	0.01905	0.0060	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	P	0.55667	0.781	T	0.33033	-0.9884	9	0.72032	D	0.01	.	10.1974	0.43062	0.0859:0.578:0.3361:0.0	.	1781	P20930	FILA_HUMAN	C	1781;16	ENSP00000357789:R1781C	ENSP00000271820:R16C	R	-	1	0	FLG	150548645	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.051000	0.00628	-0.485000	0.06754	-0.311000	0.09066	CGC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	196	0	0	0	1	0	5	196				
CA2	760	broad.mit.edu	37	8	86389491	86389491	+	Missense_Mutation	SNP	T	T	A			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:86389491T>A	ENST00000285379.5	+	6	880	c.650T>A	c.(649-651)gTc>gAc	p.V217D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	217					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CCCATCAGCGTCAGCAGCGAG	0.517																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(649-651)gTc>gAc		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						236.0	229.0	232.0					8																	86389491		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389491T>A	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.650T>A	8.37:g.86389491T>A	ENSP00000285379:p.Val217Asp						p.V217D	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	880	+			217					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.650T>A	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376947	0.61735	.	.	ENSG00000104267	ENST00000285379	T	0.72505	-0.66	5.54	5.54	0.83059	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.109676	0.64402	D	0.000008	D	0.89870	0.6840	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93452	0.6803	10	0.87932	D	0	-0.2714	14.8633	0.70397	0.0:0.0:0.0:1.0	.	217	P00918	CAH2_HUMAN	D	217	ENSP00000285379:V217D	ENSP00000285379:V217D	V	+	2	0	CA2	86576743	0.997000	0.39634	0.174000	0.22961	0.503000	0.33858	6.260000	0.72502	2.108000	0.64289	0.454000	0.30748	GTC		0.517	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		59	80	0	0	0	1	0	59	80				
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			352962							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	2						4	2	---	---	---	---
POR	5447	broad.mit.edu	37	7	75616893	75616893	+	IGR	DEL	C	C	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr7:75616893delC	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GAAGGTGAGGCCCCGCCACAT	0.632																																						ENST00000493111.2																			0													transmembrane protein 120A							24.0	34.0	30.0					7																	75616893		2076	4185	6261	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75616893delC	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616893delC						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	811	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	ENST00000461988.1	37		CCDS5579.1																																																																																				0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		2	4						2	4	---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19446412	19446412	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr9:19446412delA	ENST00000340967.2	+	5	663	c.637delA	c.(637-639)atgfs	p.M213fs		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGCACTGCATGTGGTAAGC	0.592																																						ENST00000340967.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						c.(637-639)tgfs		alkaline ceramidase 2							95.0	81.0	86.0					9																	19446412		2203	4300	6503	SO:0001589	frameshift_variant	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19446412delA	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.637delA	9.37:g.19446412delA	ENSP00000342609:p.Met213fs						p.M213fs	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN			5	663	+			213					A2A3R8|Q569G5|Q5VZR7|Q71RD2	Frame_Shift_Del	DEL	ENST00000340967.2	37	c.637delA	CCDS34992.1																																																																																				0.592	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		8	85						8	85	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62542092	62542093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:62542092_62542093insC	ENST00000430451.2	+	3	1173_1174	c.976_977insC	c.(976-978)tccfs	p.S326fs	SYT16_ENST00000446982.2_Frame_Shift_Ins_p.S326fs|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	326					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGACAGCTCCTCCATGTGGAGT	0.475																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(976-978)catfs		synaptotagmin XVI																																				SO:0001589	frameshift_variant	83851							g.chr14:62542092_62542093insC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.978dupC	14.37:g.62542094_62542094dupC	ENSP00000394700:p.Ser326fs					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Frame_Shift_Ins_p.H326fs	p.H326fs	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1173_1174	+			326					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Frame_Shift_Ins	INS	ENST00000430451.2	37	c.976_977insC	CCDS45121.1																																																																																				0.475	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		57	50						57	50	---	---	---	---
BRD7	29117	broad.mit.edu	37	16	50357568	50357571	+	Frame_Shift_Del	DEL	ACAT	ACAT	-	rs569809930|rs78557784	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr16:50357568_50357571delACAT	ENST00000394688.3	-	12	1529_1532	c.1370_1373delATGT	c.(1369-1374)tatgtcfs	p.YV457fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	457					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATCTGCCATGACATACGGATAATC	0.436																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(1369-1374)tcfs		bromodomain containing 7																																				SO:0001589	frameshift_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50357568_50357571delACAT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1370_1373delATGT	16.37:g.50357568_50357571delACAT	ENSP00000378180:p.Tyr457fs					BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs	p.YV457fs			Q9NPI1	BRD7_HUMAN			12	1529_1532	-		all_cancers(37;0.0127)	457					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	ENST00000394688.3	37	c.1370_1373delATGT	CCDS10742.1																																																																																				0.436	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		7	127						7	127	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18161946	18161946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:18161946delA	ENST00000327031.4	-	1	284	c.59delT	c.(58-60)ttcfs	p.F20fs	MIEF2_ENST00000395706.2_5'Flank|MIEF2_ENST00000578174.1_5'Flank|MIEF2_ENST00000578621.1_5'Flank|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|MIEF2_ENST00000395704.4_5'Flank|FLII_ENST00000579294.1_5'Flank|MIEF2_ENST00000323019.4_5'Flank|MIEF2_ENST00000395703.4_5'Flank|FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	20	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCTCACCTTGAAGTCGTTGCC	0.761																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(58-60)tcfs		flightless I homolog (Drosophila)							5.0	5.0	5.0					17																	18161946		1829	3767	5596	SO:0001589	frameshift_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18161946delA	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.59delT	17.37:g.18161946delA	ENSP00000324573:p.Phe20fs					FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs|FLII_ENST00000584444.1_5'UTR	p.F20fs	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			1	284	-	all_neural(463;0.228)		20			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Frame_Shift_Del	DEL	ENST00000327031.4	37	c.59delT	CCDS11192.1																																																																																				0.761	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		2	4						2	4	---	---	---	---
