#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
RP1	6101	broad.mit.edu	37	8	55541350	55541350	+	Silent	SNP	C	C	T	rs200942439	byFrequency	TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:55541350C>T	ENST00000220676.1	+	4	5056	c.4908C>T	c.(4906-4908)taC>taT	p.Y1636Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1636					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAACTGTACGGTAAAGCAG	0.373													C|||	4	0.000798722	0.0015	0.0029	5008	,	,		20634	0.0		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4906-4908)taC>taT		retinitis pigmentosa 1 (autosomal dominant)		C		0,4406		0,0,2203	89.0	93.0	92.0		4908	2.1	1.0	8		92	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RP1	NM_006269.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1636/2157	55541350	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541350C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4908C>T	8.37:g.55541350C>T							p.Y1636Y	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5056	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1636						Silent	SNP	ENST00000220676.1	37	c.4908C>T	CCDS6160.1																																																																																				0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	96	0	0	0	1	0	5	96				
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr1:201982405G>A	ENST00000359651.3	+	6	3976	c.784G>A	c.(784-786)Gag>Aag	p.E262K	ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632																																						ENST00000359651.3																			1	Substitution - Nonsense(1)	p.E262*(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(784-786)Gag>Aag		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							71.0	77.0	75.0					1																	201982405		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982405G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.784G>A	1.37:g.201982405G>A	ENSP00000352673:p.Glu262Lys					ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K	p.E262K			P78545	ELF3_HUMAN			6	3976	+			262						Missense_Mutation	SNP	ENST00000359651.3	37	c.784G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845112	0.71603	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.13538	2.58;2.58;2.58	5.6	5.6	0.85130	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.419500	0.03867	N	0.275079	T	0.21674	0.0522	M	0.67953	2.075	0.46376	D	0.999015	B	0.22541	0.071	B	0.21360	0.034	T	0.57888	-0.7733	10	0.06891	T	0.86	.	17.4077	0.87477	0.0:0.0:1.0:0.0	.	262	P78545	ELF3_HUMAN	K	262;262;262;239	ENSP00000352673:E262K;ENSP00000356253:E262K;ENSP00000356252:E262K	ENSP00000311348:E239K	E	+	1	0	ELF3	200249028	0.468000	0.25839	0.994000	0.49952	0.974000	0.67602	1.618000	0.36954	2.633000	0.89246	0.561000	0.74099	GAG		0.632	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		10	30	0	0	0	1	0	10	30				
BPTF	2186	broad.mit.edu	37	17	65916168	65916168	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:65916168T>G	ENST00000321892.4	+	15	5905	c.5844T>G	c.(5842-5844)atT>atG	p.I1948M	BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1948					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAATAATTAAGAGGAGAG	0.333																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5842-5844)atT>atG		bromodomain PHD finger transcription factor							137.0	139.0	138.0					17																	65916168		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916168T>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5844T>G	17.37:g.65916168T>G	ENSP00000315454:p.Ile1948Met					BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M	p.I1948M			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5905	+	all_cancers(12;6e-11)		1948					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5844T>G		.	.	.	.	.	.	.	.	.	.	T	13.44	2.237192	0.39498	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.13538	2.58;2.58;2.58	5.65	4.58	0.56647	.	.	.	.	.	T	0.27098	0.0664	L	0.50333	1.59	0.50467	D	0.999872	D;D	0.89917	0.998;1.0	D;D	0.91635	0.996;0.999	T	0.01472	-1.1346	9	0.72032	D	0.01	-15.1665	6.8063	0.23779	0.0:0.2529:0.0:0.7471	.	1822;1948	Q12830-2;Q12830-4	.;.	M	1822;1948;1948	ENSP00000307208:I1822M;ENSP00000334351:I1948M;ENSP00000315454:I1948M	ENSP00000307208:I1822M	I	+	3	3	BPTF	63346630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.857000	0.27831	2.154000	0.67381	0.533000	0.62120	ATT		0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	101	0	0	0	1	0	4	101				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	45	0	0	0	1	0	3	45				
C8orf33	65265	broad.mit.edu	37	8	146278159	146278159	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:146278159G>A	ENST00000331434.6	+	2	308	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	65										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GATGAAGGCGGCACAGCGTCG	0.557																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(193-195)gGc>gAc		chromosome 8 open reading frame 33							53.0	55.0	54.0					8																	146278159		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278159G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.194G>A	8.37:g.146278159G>A	ENSP00000330361:p.Gly65Asp						p.G65D	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	308	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		65					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.194G>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	7.402	0.632927	0.14322	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.45	-4.09	0.03951	.	1.940650	0.02738	N	0.115994	T	0.07999	0.0200	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10359	-1.0633	8	.	.	.	0.1822	0.2734	0.00235	0.2576:0.1986:0.1508:0.393	.	65	Q9H7E9	CH033_HUMAN	D	65	.	.	G	+	2	0	C8orf33	146248963	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.397000	0.07269	-0.954000	0.03640	-0.367000	0.07326	GGC		0.557	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		3	55	0	0	0	1	0	3	55				
EIF2AK1	27102	broad.mit.edu	37	7	6085711	6085711	+	Silent	SNP	A	A	C			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr7:6085711A>C	ENST00000199389.6	-	6	767	c.621T>G	c.(619-621)gtT>gtG	p.V207V	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.V83V|RN7SL851P_ENST00000480512.2_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CCTTCATGCAAACTGTTTTAG	0.254																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(619-621)gtT>gtG		eukaryotic translation initiation factor 2-alpha kinase 1							77.0	75.0	76.0					7																	6085711		2200	4297	6497	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6085711A>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.621T>G	7.37:g.6085711A>C						EIF2AK1_ENST00000536084.1_Silent_p.V83V|EIF2AK1_ENST00000495565.1_5'UTR	p.V207V	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	6	767	-		Ovarian(82;0.0423)	207			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.621T>G	CCDS5345.1																																																																																				0.254	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		6	18	0	0	0	1	0	6	18				
STXBP1	6812	broad.mit.edu	37	9	130434339	130434339	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr9:130434339C>T	ENST00000373299.1	+	12	1088	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R325W|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	325					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GACCACCATGCGGGACCTGTC	0.502																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(973-975)Cgg>Tgg		syntaxin binding protein 1							123.0	114.0	117.0					9																	130434339		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130434339C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.973C>T	9.37:g.130434339C>T	ENSP00000362396:p.Arg325Trp					STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.R325W	p.R325W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			12	1112	+			325					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.973C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898006	0.52227	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.41	2.03	0.26663	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.81112	2.525	0.58432	D	0.999999	P;P	0.46656	0.882;0.857	B;B	0.39379	0.298;0.197	T	0.76024	-0.3110	10	0.87932	D	0	-21.1243	6.3381	0.21306	0.4759:0.4339:0.0:0.0902	.	325;325	P61764;P61764-2	STXB1_HUMAN;.	W	279;325;157;325	ENSP00000362399:R325W;ENSP00000362396:R325W	ENSP00000362396:R325W	R	+	1	2	STXBP1	129474160	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.962000	0.49176	0.740000	0.32651	-0.258000	0.10820	CGG		0.502	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		3	52	0	0	0	1	0	3	52				
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247.0	258.0	254.0					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	409	0	0	0	1	0	8	409				
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368																																						ENST00000441448.2																			1	Substitution - coding silent(1)	p.I303I(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(907-909)atT>atA		ribosome production factor 2 homolog (S. cerevisiae)							29.0	33.0	31.0					6																	111346773		2199	4300	6499	SO:0001819	synonymous_variant	84154					nucleolus	protein binding	g.chr6:111346773T>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.909T>A	6.37:g.111346773T>A							p.I303I	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			10	1001	+			303					Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	c.909T>A	CCDS5088.1																																																																																				0.368	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		5	24	0	0	0	1	0	5	24				
LILRB5	10990	broad.mit.edu	37	19	54760448	54760448	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr19:54760448A>T	ENST00000316219.5	-	3	366	c.259T>A	c.(259-261)Tcc>Acc	p.S87T	LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T|LILRB5_ENST00000450632.1_Missense_Mutation_p.S87T|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	87	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TACACCGTGGATGGAATGTGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(259-261)Tcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							241.0	229.0	233.0					19																	54760448		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760448A>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.259T>A	19.37:g.54760448A>T	ENSP00000320390:p.Ser87Thr					LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T|LILRB5_ENST00000316219.5_Missense_Mutation_p.S87T|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T	p.S87T			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	336	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		87			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.259T>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	9.137	1.012775	0.19277	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	3.29	-6.58	0.01836	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.157160	0.01998	N	0.046032	T	0.17152	0.0412	M	0.63843	1.955	0.09310	N	1	D;B;B;P;P	0.55172	0.97;0.06;0.01;0.751;0.617	P;B;B;B;B	0.55222	0.771;0.024;0.009;0.297;0.291	T	0.43458	-0.9390	10	0.45353	T	0.12	.	0.9926	0.01460	0.2636:0.1259:0.3605:0.2501	.	87;78;87;87;87	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	T	87	ENSP00000320390:S87T;ENSP00000414225:S87T;ENSP00000406478:S87T;ENSP00000263430:S87T	ENSP00000320390:S87T	S	-	1	0	LILRB5	59452260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.953000	0.00676	-2.159000	0.00787	-0.361000	0.07541	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			53	208	0	0	0	1	0	53	208				
DLG5	9231	broad.mit.edu	37	10	79580907	79580907	+	Missense_Mutation	SNP	C	C	A	rs372580241	byFrequency	TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr10:79580907C>A	ENST00000372391.2	-	15	3340	c.3335G>T	c.(3334-3336)cGg>cTg	p.R1112L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1112					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGATTTTGGCCGGCGACGCTT	0.602																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3334-3336)cGg>cTg		discs, large homolog 5 (Drosophila)							49.0	53.0	51.0					10																	79580907		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79580907C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3335G>T	10.37:g.79580907C>A	ENSP00000361467:p.Arg1112Leu					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	p.R1112L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3340	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1112					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3335G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773090	0.90108	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.12255	2.7	5.69	5.69	0.88448	.	0.000000	0.33534	N	0.004809	T	0.32194	0.0821	L	0.59436	1.845	0.80722	D	1	D;P	0.61697	0.99;0.856	P;P	0.58210	0.835;0.454	T	0.00605	-1.1648	10	0.59425	D	0.04	.	19.8062	0.96532	0.0:1.0:0.0:0.0	.	1002;1112	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	L	1112;661	ENSP00000361467:R1112L	ENSP00000361467:R1112L	R	-	2	0	DLG5	79250913	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	7.267000	0.78462	2.679000	0.91253	0.655000	0.94253	CGG		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			7	36	1	0	1.12685e-05	1	1.19728e-05	7	36				
KRTAP1-1	81851	broad.mit.edu	37	17	39197281	39197281	+	Silent	SNP	G	G	A			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:39197281G>A	ENST00000306271.4	-	1	432	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	123						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCTCCACACGGCAGTCTGGGC	0.677																																						ENST00000306271.4																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(367-369)tgC>tgT		keratin associated protein 1-1							22.0	27.0	25.0					17																	39197281		2052	4168	6220	SO:0001819	synonymous_variant	81851					extracellular region|keratin filament		g.chr17:39197281G>A	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.369C>T	17.37:g.39197281G>A							p.C123C	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	432	-		Breast(137;0.000496)	123					A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	c.369C>T	CCDS42324.1																																																																																				0.677	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		7	26	0	0	0	1	0	7	26				
LOC150776	150776	broad.mit.edu	37	2	132266282	132266282	+	RNA	DEL	G	G	-	rs35012291	byFrequency	TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr2:132266282delG	ENST00000438378.2	+	0	1234					NR_026922.1																						GCTGGATGGTGGGAAGCAGAA	0.547													|||unknown(NO_COVERAGE)	1676	0.334665	0.1346	0.4265	5008	,	,		18092	0.6806		0.2197	False		,,,				2504	0.3016					ENST00000438378.2																			0																																																			150776							g.chr2:132266282delG																													2.37:g.132266282delG								NR_026922.1						0	1234	+									RNA	DEL	ENST00000438378.2	37																																																																																						0.547	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			4	5						4	5	---	---	---	---
