#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
NOX5	79400	broad.mit.edu	37	15	69331268	69331268	+	Silent	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:69331268C>A	ENST00000388866.3	+	9	1484	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000455873.3_Silent_p.I446I|NOX5_ENST00000260364.5_Silent_p.I463I|NOX5_ENST00000530406.2_Silent_p.I453I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	481	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGAACATCCCCACCATTG	0.507																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1387-1389)atC>atA		NADPH oxidase, EF-hand calcium binding domain 5							241.0	224.0	230.0					15																	69331268		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69331268C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1443C>A	15.37:g.69331268C>A						RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000388866.3_Silent_p.I481I|NOX5_ENST00000530406.2_Silent_p.I453I|NOX5_ENST00000455873.3_Silent_p.I446I	p.I463I			Q96PH1	NOX5_HUMAN			10	1690	+			481			C-terminal catalytic region.|FAD-binding FR-type.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1389C>A	CCDS32276.2																																																																																				0.507	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		100	210	1	0	7.97055e-49	0.870114	1.05325e-48	100	210				
ERC1	23085	broad.mit.edu	37	12	1225197	1225197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:1225197G>T	ENST00000397203.2	+	7	1973	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	523					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTGCAGACTGAGGTAGAAAC	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1567-1569)Gag>Tag		ELKS/RAB6-interacting/CAST family member 1							92.0	92.0	92.0					12																	1225197		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1225197G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1567G>T	12.37:g.1225197G>T	ENSP00000380386:p.Glu523*					ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*	p.E523*			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		7	1973	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		523					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1567G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	39	7.428208	0.98279	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.14	5.14	0.70334	.	0.102180	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.3138	19.4902	0.95047	0.0:0.0:1.0:0.0	.	.	.	.	X	495;523;495;495;495;495;523;523;523;495;271;163	.	ENSP00000340054:E495X	E	+	1	0	ERC1	1095458	1.000000	0.71417	0.935000	0.37517	0.059000	0.15707	9.737000	0.98831	2.780000	0.95670	0.585000	0.79938	GAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		47	115	1	0	3.30226e-22	0.870114	4.07279e-22	47	115				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	84	0	0	0	0.115264	0	3	84				
ADAMTS8	11095	broad.mit.edu	37	11	130275958	130275958	+	Missense_Mutation	SNP	C	C	T	rs367590895		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:130275958C>T	ENST00000257359.6	-	9	2871	c.2165G>A	c.(2164-2166)aGc>aAc	p.S722N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	722	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCCGGGTGGCTCCGCTGCTT	0.542																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2164-2166)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 8		C	ASN/SER	0,4212		0,0,2106	78.0	81.0	80.0		2165	4.4	1.0	11		80	1,8435		0,1,4217	no	missense	ADAMTS8	NM_007037.4	46	0,1,6323	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	722/890	130275958	1,12647	2106	4218	6324	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275958C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2165G>A	11.37:g.130275958C>T	ENSP00000257359:p.Ser722Asn						p.S722N	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2871	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	722			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2165G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433160	0.43224	0.0	1.19E-4	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50813	0.73	5.35	4.43	0.53597	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.60455	1.87	0.51233	D	0.999919	P;B	0.46706	0.883;0.363	P;B	0.55222	0.771;0.267	T	0.52139	-0.8615	10	0.09590	T	0.72	.	15.3481	0.74359	0.1409:0.8591:0.0:0.0	.	722;203	Q9UP79;B3KVX9	ATS8_HUMAN;.	N	120;722;751	ENSP00000257359:S722N	ENSP00000257359:S722N	S	-	2	0	ADAMTS8	129781168	1.000000	0.71417	0.988000	0.46212	0.536000	0.34869	4.689000	0.61723	1.218000	0.43458	0.467000	0.42956	AGC		0.542	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		92	132	0	0	0	0.870114	0	92	132				
OR4N5	390437	broad.mit.edu	37	14	20612596	20612596	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:20612596C>A	ENST00000333629.1	+	1	702	c.702C>A	c.(700-702)agC>agA	p.S234R	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	234			S -> T (in dbSNP:rs10140908).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGAAAGAGCAAGGCTATTT	0.502																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(700-702)agC>agA		olfactory receptor, family 4, subfamily N, member 5							152.0	152.0	152.0					14																	20612596		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612596C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.702C>A	14.37:g.20612596C>A	ENSP00000332110:p.Ser234Arg						p.S234R	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	702	+	all_cancers(95;0.00108)		234		S -> T (in dbSNP:rs10140908).			Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.702C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.159617	0.00321	.	.	ENSG00000184394	ENST00000333629	T	0.00099	8.73	3.88	-0.575	0.11734	GPCR, rhodopsin-like superfamily (1);	0.997836	0.08112	N	0.996023	T	0.00073	0.0002	N	0.03304	-0.355	0.20563	N	0.999885	B	0.20368	0.044	B	0.29353	0.101	T	0.32134	-0.9918	10	0.02654	T	1	.	0.558	0.00674	0.1767:0.3307:0.1725:0.32	.	234	Q8IXE1	OR4N5_HUMAN	R	234	ENSP00000332110:S234R	ENSP00000332110:S234R	S	+	3	2	OR4N5	19682436	0.000000	0.05858	0.406000	0.26421	0.530000	0.34684	-2.319000	0.01120	0.070000	0.16634	0.655000	0.94253	AGC		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			60	164	1	0	3.77215e-22	0.870114	4.50225e-22	60	164				
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		6	392	0	0	0	0.307466	0	6	392				
C17orf97	400566	broad.mit.edu	37	17	263584	263584	+	Missense_Mutation	SNP	C	C	T	rs71369083|rs375414493|rs71369084		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr17:263584C>T	ENST00000360127.6	+	2	966	c.950C>T	c.(949-951)aCt>aTt	p.T317I	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	347	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGTTTCCACACTGACCCCGAG	0.687																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(949-951)aCt>aTt		chromosome 17 open reading frame 97							23.0	26.0	25.0					17																	263584		2201	4298	6499	SO:0001583	missense	400566							g.chr17:263584C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.950C>T	17.37:g.263584C>T	ENSP00000353245:p.Thr317Ile					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.T317I	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	966	+			347			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.950C>T	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	7.453	0.643100	0.14451	.	.	ENSG00000187624	ENST00000360127	T	0.32272	1.46	2.04	-0.893	0.10567	.	.	.	.	.	T	0.13970	0.0338	N	0.14661	0.345	0.23406	N	0.997743	B	0.26512	0.151	B	0.14023	0.01	T	0.19844	-1.0293	9	0.51188	T	0.08	.	3.5499	0.07843	0.2397:0.5828:0.0:0.1775	.	317	Q6ZQX7-4	.	I	317	ENSP00000353245:T317I	ENSP00000353245:T317I	T	+	2	0	C17orf97	263930	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.894000	0.00092	0.127000	0.18452	0.195000	0.17529	ACT		0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	84	0	0	0	0.150653	0	4	84				
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		olfactory receptor, family 6, subfamily K, member 6							149.0	140.0	143.0					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu						p.F311L	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1027	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	135	0	0	0	0.115264	0	3	135				
ZNF737	100129842	broad.mit.edu	37	19	20728254	20728254	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(754-756)aGt>aCt		zinc finger protein 737							34.0	34.0	34.0					19																	20728254		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728254C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.755G>C	19.37:g.20728254C>G	ENSP00000395733:p.Ser252Thr						p.S252T	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	849	-			252					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.755G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.857622	0.00065	.	.	ENSG00000237440	ENST00000427401	T	0.12879	2.64	0.1	-0.2	0.13216	.	.	.	.	.	T	0.03871	0.0109	N	0.03050	-0.425	0.24703	N	0.993244	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	5.4374	0.16488	0.0:0.645:0.355:0.0	.	252	C9JHM3	.	T	252	ENSP00000395733:S252T	ENSP00000395733:S252T	S	-	2	0	ZNF737	20520094	0.066000	0.20996	0.041000	0.18516	0.041000	0.13682	0.057000	0.14279	-1.260000	0.02465	-1.278000	0.01390	AGT		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	50	0	0	0	0.115264	0	3	50				
LOC728323	728323	broad.mit.edu	37	2	243061183	243061183	+	RNA	SNP	C	C	T	rs188068415		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr2:243061183C>T	ENST00000456398.1	+	0	531																											ATTCAAGATACCCGAAGGTTC	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061183C>T																													2.37:g.243061183C>T														0	531	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			4	69	0	0	0	0.150653	0	4	69				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	33	0	0	0	0.307466	0	5	33				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	46	0	0	0	0.184627	0	4	46				
LTBP2	4053	broad.mit.edu	37	14	74975354	74975354	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:74975354A>G	ENST00000261978.4	-	24	3991	c.3605T>C	c.(3604-3606)cTg>cCg	p.L1202P	LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1202	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCGCGCACAGACAGAAGAA	0.627																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)cTg>cCg		latent transforming growth factor beta binding protein 2							45.0	55.0	51.0					14																	74975354		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975354A>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3605T>C	14.37:g.74975354A>G	ENSP00000261978:p.Leu1202Pro					LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	24	3991	-			1202			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3605T>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835711	0.71373	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92495	-3.05;-3.05	5.2	5.2	0.72013	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37348	N	0.002128	D	0.92325	0.7565	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.90635	0.4570	10	0.25751	T	0.34	.	13.7931	0.63155	1.0:0.0:0.0:0.0	.	1202	Q14767	LTBP2_HUMAN	P	1202	ENSP00000261978:L1202P;ENSP00000451477:L1202P	ENSP00000261978:L1202P	L	-	2	0	LTBP2	74045107	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.645000	0.74343	2.183000	0.69458	0.379000	0.24179	CTG		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	81	0	0	0	0.150653	0	4	81				
TG	7038	broad.mit.edu	37	8	133920500	133920500	+	Missense_Mutation	SNP	G	G	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:133920500G>C	ENST00000220616.4	+	18	3957	c.3917G>C	c.(3916-3918)tGc>tCc	p.C1306S	TG_ENST00000377869.1_Missense_Mutation_p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1306					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAAGATGTGCAGTGCTGAC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3916-3918)tGc>tCc		thyroglobulin							72.0	66.0	68.0					8																	133920500		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920500G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3917G>C	8.37:g.133920500G>C	ENSP00000220616:p.Cys1306Ser					TG_ENST00000377869.1_Missense_Mutation_p.C1306S	p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3957	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1306					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3917G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324658	0.60634	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.72394	-0.65;-0.57	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.70159	0.3192	M	0.71581	2.175	0.41655	D	0.989156	P	0.39480	0.675	B	0.37091	0.241	T	0.76044	-0.3103	10	0.87932	D	0	.	14.8675	0.70427	0.0:0.0:1.0:0.0	.	1306	P01266	THYG_HUMAN	S	1306;112;1306	ENSP00000367100:C1306S;ENSP00000220616:C1306S	ENSP00000220616:C1306S	C	+	2	0	TG	133989682	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.889000	0.69766	2.567000	0.86603	0.650000	0.86243	TGC		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	72	0	0	0	0.870114	0	47	72				
OR56B4	196335	broad.mit.edu	37	11	6129771	6129771	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:6129771C>A	ENST00000316529.3	+	1	858	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTCATCCTCTTCCACAC	0.478																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(763-765)Ctc>Atc		olfactory receptor, family 56, subfamily B, member 4							142.0	129.0	134.0					11																	6129771		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129771C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.763C>A	11.37:g.6129771C>A	ENSP00000321196:p.Leu255Ile					RP11-290F24.3_ENST00000529961.1_RNA	p.L255I	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	858	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	255					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.763C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716505	0.48622	.	.	ENSG00000180919	ENST00000316529	T	0.00256	8.42	4.06	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33401	U	0.004951	T	0.00356	0.0011	M	0.76433	2.335	0.09310	N	1	P	0.49559	0.925	P	0.59012	0.85	T	0.43147	-0.9409	10	0.66056	D	0.02	.	5.1562	0.15036	0.1688:0.6291:0.0:0.2021	.	255	Q8NH76	O56B4_HUMAN	I	255	ENSP00000321196:L255I	ENSP00000321196:L255I	L	+	1	0	OR56B4	6086347	0.001000	0.12720	0.808000	0.32385	0.873000	0.50193	0.468000	0.22051	0.432000	0.26286	0.556000	0.70494	CTC		0.478	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		4	83	1	0	0.000602214	0.184627	0.00067521	4	83				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	46	0	0	0	0.115264	0	3	46				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	87	0	0	0	0.150653	0	4	87				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	46	0	0	0	0.115264	0	3	46				
MACF1	23499	broad.mit.edu	37	1	39847746	39847746	+	Silent	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:39847746G>A	ENST00000372915.3	+	55	13872	c.13785G>A	c.(13783-13785)gaG>gaA	p.E4595E	MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000564288.1_Silent_p.E4590E|MACF1_ENST00000545844.1_Silent_p.E2528E|MACF1_ENST00000289893.4_Silent_p.E3030E|MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000567887.1_Silent_p.E4627E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4595					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGATGGAGAAAGAACTGA	0.532																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13768-13770)gaG>gaA		microtubule-actin crosslinking factor 1							56.0	59.0	58.0					1																	39847746		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39847746G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13785G>A	1.37:g.39847746G>A						MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000567887.1_Silent_p.E4627E|MACF1_ENST00000372915.3_Silent_p.E4595E|MACF1_ENST00000289893.4_Silent_p.E3030E|MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000545844.1_Silent_p.E2528E	p.E4590E			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	14547	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4595	R -> Q (in Ref. 1; BAA83821).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.13770G>A		.	.	.	.	.	.	.	.	.	.	G	9.218	1.032666	0.19590	.	.	ENSG00000127603	ENST00000372925	T	0.41065	1.01	5.95	4.07	0.47477	.	0.000000	0.64402	D	0.000017	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40534	-0.9558	7	0.33141	T	0.24	.	13.1435	0.59448	0.1278:0.0:0.8722:0.0	.	.	.	.	K	1641	ENSP00000362016:E1641K	ENSP00000362016:E1641K	E	+	1	0	MACF1	39620333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.907000	0.63300	0.839000	0.34971	0.650000	0.86243	GAA		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	64	0	0	0	0.115264	0	3	64				
NBPF10	100132406	broad.mit.edu	37	1	145360640	145360640	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:145360640C>G	ENST00000342960.5	+	74	9300	c.9265C>G	c.(9265-9267)Ctt>Gtt	p.L3089V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.493																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9265-9267)Ctt>Gtt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145360640C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9265C>G	1.37:g.145360640C>G	ENSP00000345684:p.Leu3089Val					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.L3089V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9300	+	all_hematologic(923;0.032)		3089					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9265C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	4.533	0.098999	0.08681	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	1.08	0.106	0.14540	.	.	.	.	.	T	0.02304	0.0071	M	0.82517	2.595	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.45011	-0.9290	9	0.15952	T	0.53	.	3.3753	0.07235	0.0:0.7074:0.0:0.2926	.	2770	A6NDV3	.	V	3089	ENSP00000345684:L3089V	ENSP00000345684:L3089V	L	+	1	0	NBPF10	144071997	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.012000	0.29924	0.048000	0.15891	0.175000	0.17021	CTT		0.493	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		2	6	0	0	0	0.115264	0	2	6				
ARSI	340075	broad.mit.edu	37	5	149676882	149676882	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr5:149676882C>A	ENST00000328668.7	-	2	2184	c.1605G>T	c.(1603-1605)agG>agT	p.R535S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	535					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCGAGCCCTCCCTTCCT	0.552																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1603-1605)agG>agT		arylsulfatase family, member I							105.0	116.0	112.0					5																	149676882		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676882C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1605G>T	5.37:g.149676882C>A	ENSP00000333395:p.Arg535Ser						p.R535S	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2184	-			535					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1605G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937748	0.00484	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97016	-4.21;-3.32	4.56	1.7	0.24286	.	0.581829	0.18755	N	0.132057	D	0.87935	0.6303	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73789	-0.3872	10	0.09084	T	0.74	.	2.2815	0.04115	0.1346:0.4932:0.132:0.2401	.	535	Q5FYB1	ARSI_HUMAN	S	535;392	ENSP00000333395:R535S;ENSP00000426879:R392S	ENSP00000333395:R535S	R	-	3	2	ARSI	149657075	0.003000	0.15002	0.506000	0.27664	0.168000	0.22595	0.237000	0.17985	0.520000	0.28426	0.643000	0.83706	AGG		0.552	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		109	161	1	0	5.99808e-64	0.870114	8.2196e-64	109	161				
NAA40	79829	broad.mit.edu	37	11	63720256	63720256	+	Missense_Mutation	SNP	C	C	T	rs536599515		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:63720256C>T	ENST00000377793.4	+	6	540	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	NAA40_ENST00000542163.1_Missense_Mutation_p.R126W|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W|NAA40_ENST00000539656.1_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	147	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCAAGGTGCGGCGGAAAGG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21611	0.0		0.0	False		,,,				2504	0.0					ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(439-441)Cgg>Tgg		N(alpha)-acetyltransferase 40, NatD catalytic subunit							93.0	82.0	85.0					11																	63720256		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720256C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.439C>T	11.37:g.63720256C>T	ENSP00000367024:p.Arg147Trp					NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W|NAA40_ENST00000542163.1_Missense_Mutation_p.R126W	p.R147W	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			6	540	+			147			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.439C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333728	0.81801	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.61742	0.08;0.08;0.08	5.94	5.02	0.67125	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.80190	-0.1485	10	0.87932	D	0	-10.5196	13.6677	0.62405	0.2807:0.7193:0.0:0.0	.	107;147	B4DU10;Q86UY6	.;NAA40_HUMAN	W	147;107;126	ENSP00000367024:R147W;ENSP00000407578:R107W;ENSP00000442055:R126W	ENSP00000367024:R147W	R	+	1	2	NAA40	63476832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.797000	0.26999	1.487000	0.48415	0.650000	0.86243	CGG		0.542	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		4	118	0	0	0	0.217242	0	4	118				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	137	0	0	0	0.248553	0	4	137				
GOLGB1	2804	broad.mit.edu	37	3	121409980	121409980	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr3:121409980G>A	ENST00000340645.5	-	14	8341	c.8216C>T	c.(8215-8217)tCt>tTt	p.S2739F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2744F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2739					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAACTCATAGACCTTCCAAA	0.398																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8230-8232)tCt>tTt		golgin B1							190.0	189.0	189.0					3																	121409980		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409980G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8216C>T	3.37:g.121409980G>A	ENSP00000341848:p.Ser2739Phe					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2739F	p.S2744F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8341	-			2739					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8231C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525122	0.44969	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.47451	0.1446	M	0.70595	2.14	0.53005	D	0.999961	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.987;0.991	T	0.42224	-0.9464	10	0.66056	D	0.02	.	17.1545	0.86787	0.0:0.0:1.0:0.0	.	2744;2744;2739	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2739;2744	ENSP00000341848:S2739F;ENSP00000377275:S2744F	ENSP00000341848:S2739F	S	-	2	0	GOLGB1	122892670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.269000	0.95684	2.642000	0.89623	0.655000	0.94253	TCT		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	176	0	0	0	0.278610	0	6	176				
DNAH8	1769	broad.mit.edu	37	6	38775405	38775405	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr6:38775405C>G	ENST00000359357.3	+	22	2773	c.2519C>G	c.(2518-2520)gCt>gGt	p.A840G	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G|DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	840					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGTCTTTGCTTTTTTCTCT	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2518-2520)gCt>gGt		dynein, axonemal, heavy chain 8							100.0	101.0	101.0					6																	38775405		2202	4296	6498	SO:0001583	missense	1769							g.chr6:38775405C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2519C>G	6.37:g.38775405C>G	ENSP00000352312:p.Ala840Gly					DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G	p.A840G							22	2773	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2519C>G		.	.	.	.	.	.	.	.	.	.	C	12.81	2.050553	0.36181	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.8;1.79;1.77	6.07	5.2	0.72013	.	0.205021	0.42682	D	0.000666	T	0.11281	0.0275	L	0.51422	1.61	0.39791	D	0.972436	B	0.06786	0.001	B	0.08055	0.003	T	0.06789	-1.0807	10	0.21014	T	0.42	.	12.6766	0.56897	0.0:0.9231:0.0:0.0769	.	840	Q96JB1	DYH8_HUMAN	G	1045;1045;840;840	ENSP00000333363:A1045G;ENSP00000352312:A840G;ENSP00000402294:A840G	ENSP00000333363:A1045G	A	+	2	0	DNAH8	38883383	0.961000	0.32948	0.991000	0.47740	0.994000	0.84299	1.700000	0.37815	1.591000	0.50007	0.650000	0.86243	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		28	65	0	0	0	0.769981	0	28	65				
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			8	444						8	444	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	74						7	74	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	106						8	106	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGATATCATCAAAAAAAAGAA	0.446																																						ENST00000523207.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.Q143K(1)|p.E146fs*3(1)	ovary(1)|lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)aaafs		potassium voltage-gated channel, Shab-related subfamily, member 2																																				SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480396_73480397insA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.435dupA	8.37:g.73480404_73480404dupA	ENSP00000430846:p.Gln143fs						p.K143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1015_1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Ins	INS	ENST00000523207.1	37	c.427_428insA	CCDS6209.1																																																																																				0.446	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	207						7	207	---	---	---	---
CCDC26	137196	broad.mit.edu	37	8	130495364	130495366	+	lincRNA	DEL	GAA	GAA	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:130495364_130495366delGAA	ENST00000446592.3	-	0	312				MIR3686_ENST00000577904.1_RNA			Q8TAB7	CCD26_HUMAN	CCDC26 long non-coding RNA																		agaggaagaggaagaagaagaag	0.537																																						ENST00000446592.3																			0																																																			0							g.chr8:130495364_130495366delGAA	BC026098		8q24.21	2014-04-01	2014-03-27		ENSG00000229140	ENSG00000229140			28416	non-coding RNA	RNA, long non-coding	"""retinoic acid modulator"""	613040	"""coiled-coil domain containing 26"""			16449964, 23399484	Standard			Approved	MGC27434, RAM	uc003ysq.2	Q8TAB7	OTTHUMG00000164848		8.37:g.130495373_130495375delGAA														0	312	-									RNA	DEL	ENST00000446592.3	37																																																																																						0.537	CCDC26-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000380581.1			2	4						2	4	---	---	---	---
PTENP1	11191	broad.mit.edu	37	9	33675364	33675365	+	RNA	INS	-	-	A	rs375190728	byFrequency	TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr9:33675364_33675365insA	ENST00000532280.1	-	0	2132_2133					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CTATTGCCATTAAAAAAAAAGG	0.322													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	238	0.047524	0.1672	0.013	5008	,	,		20029	0.001		0.001	False		,,,				2504	0.0061					ENST00000532280.1																			0																																																			0							g.chr9:33675364_33675365insA	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675373_33675373dupA								NR_023917.1						0	2132_2133	-									RNA	INS	ENST00000532280.1	37																																																																																						0.322	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	4						3	4	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946921	135946921	+	Frame_Shift_Del	DEL	C	C	-	rs490954		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr9:135946921delC	ENST00000372080.4	+	11	2057	c.2041delC	c.(2041-2043)cccfs	p.P683fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.P614fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	680	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		tgacgccgggcccccccccgt	0.841																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2041-2043)ccfs		carboxyl ester lipase				3,4,139		1,0,1,2,0,69	1.0	1.0	1.0			-0.9	0.0	9		1	21,9,746		6,0,9,3,3,367	no	codingComplex	CEL	NM_001807.3		7,0,10,5,3,436	A1A1,A1A2,A1R,A2A2,A2R,RR		3.866,4.7945,4.013			135946921	24,13,885	41	270	311	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946921delC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2041delC	9.37:g.135946921delC	ENSP00000361151:p.Pro683fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.P614fs	p.P683fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2057	+			680			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.2041delC	CCDS43896.1																																																																																				0.841	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			2	4						2	4	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		4	2						4	2	---	---	---	---
RP11-167N24.4	0	broad.mit.edu	37	12	95794449	95794450	+	lincRNA	DEL	CT	CT	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:95794449_95794450delCT	ENST00000548194.1	-	0	150																											TGCCTTCTCCCTCTCTCTCTCT	0.505																																						ENST00000548194.1																			0																																																			0							g.chr12:95794449_95794450delCT																													12.37:g.95794459_95794460delCT														0	150	-									RNA	DEL	ENST00000548194.1	37																																																																																						0.505	RP11-167N24.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408217.1			3	6						3	6	---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31803392	31803392	+	Frame_Shift_Del	DEL	A	A	-	rs141154947		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr13:31803392delA	ENST00000343307.4	+	4	380	c.231delA	c.(229-231)ttafs	p.L77fs		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	77					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAGAGCAGTTAAAAAAAAGCA	0.373																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(229-231)ttfs		beta 1,3-galactosyltransferase-like							55.0	52.0	53.0					13																	31803392		2203	4300	6503	SO:0001589	frameshift_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31803392delA	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.231delA	13.37:g.31803392delA	ENSP00000343002:p.Leu77fs						p.L77fs	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	4	380	+		Lung SC(185;0.0257)	77					A8K5F8|Q5W0H2|Q6NUI3	Frame_Shift_Del	DEL	ENST00000343307.4	37	c.231delA	CCDS9341.1																																																																																				0.373	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		7	114						7	114	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755478	45755478	+	RNA	DEL	C	C	-			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:45755478delC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA																							atcaccaccaccaccaccacc	0.567																																						ENST00000560077.1																			0																																																			0							g.chr15:45755478delC																													15.37:g.45755478delC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.567	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827020	1827021	+	In_Frame_Ins	INS	-	-	GGA	rs3052937|rs367705891|rs143867072		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr19:1827020_1827021insGGA	ENST00000170168.4	-	2	1861_1862	c.1767_1768insTCC	c.(1765-1770)tccacc>tccTCCacc	p.589_590insS	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTggaggtggaggaggagg	0.703																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1765-1770)tccctc>tcTCCcctc		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827020_1827021insGGA	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1765_1767dupTCC	19.37:g.1827027_1827029dupGGA	ENSP00000170168:p.Ser591_Ser592dup						p.589_590SL>SPL	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1861_1862	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	589			Ser-rich.		Q9ULT2	In_Frame_Ins	INS	ENST00000170168.4	37	c.1767_1768insTCC	CCDS32866.1																																																																																				0.703	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		5	9						5	9	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		2	4						2	4	---	---	---	---
