#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
VCP	7415	broad.mit.edu	37	9	35060506	35060506	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr9:35060506G>A	ENST00000358901.6	-	13	2394	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	500					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAATTTGTCTGGGTGCTCCAC	0.453																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1498-1500)cCa>cTa		valosin containing protein							82.0	67.0	72.0					9																	35060506		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060506G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1499C>T	9.37:g.35060506G>A	ENSP00000351777:p.Pro500Leu						p.P500L	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		13	2394	-			500					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1499C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835338	0.91117	.	.	ENSG00000165280	ENST00000358901	D	0.94723	-3.5	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99338	1.0911	10	0.87932	D	0	-29.4237	19.8449	0.96704	0.0:0.0:1.0:0.0	.	500	P55072	TERA_HUMAN	L	500	ENSP00000351777:P500L	ENSP00000351777:P500L	P	-	2	0	VCP	35050506	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	CCA		0.453	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		15	37	0	0	0	1	0	15	37				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	33	0	0	0	1	0	3	33				
LAMB2	3913	broad.mit.edu	37	3	49160648	49160648	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160648T>A	ENST00000418109.1	-	27	4305	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGTGTTTGCTGTTGAAGTCC	0.557																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4141-4143)Agc>Tgc		laminin, beta 2 (laminin S)							195.0	161.0	172.0					3																	49160648		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160648T>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4141A>T	3.37:g.49160648T>A	ENSP00000388325:p.Ser1381Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C	p.S1381C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4305	-			1381			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4141A>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327119	0.41197	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.36157	1.27;1.27	5.78	4.88	0.63580	.	0.175337	0.49916	D	0.000136	T	0.19805	0.0476	N	0.08118	0	0.27349	N	0.956301	P	0.36495	0.556	B	0.32393	0.145	T	0.11036	-1.0604	10	0.62326	D	0.03	.	13.3539	0.60617	0.0:0.0:0.6788:0.3212	.	1381	P55268	LAMB2_HUMAN	C	1381;1381;148	ENSP00000388325:S1381C;ENSP00000307156:S1381C	ENSP00000307156:S1381C	S	-	1	0	LAMB2	49135652	1.000000	0.71417	0.819000	0.32651	0.779000	0.44077	5.022000	0.64078	1.373000	0.46208	0.533000	0.62120	AGC		0.557	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		37	25	0	0	0	1	0	37	25				
LAMB2	3913	broad.mit.edu	37	3	49160646	49160646	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160646G>T	ENST00000418109.1	-	27	4307	c.4143C>A	c.(4141-4143)agC>agA	p.S1381R	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATGTGTTTGCTGTTGAAGT	0.562																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4141-4143)agC>agA		laminin, beta 2 (laminin S)							196.0	161.0	173.0					3																	49160646		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160646G>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4143C>A	3.37:g.49160646G>T	ENSP00000388325:p.Ser1381Arg					LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R	p.S1381R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4307	-			1381			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4143C>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.474459	0.01044	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.33654	1.4;1.4	5.78	-1.18	0.09617	.	0.175337	0.49916	N	0.000136	T	0.04998	0.0134	N	0.00128	-2.045	0.22866	N	0.998637	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	10	0.06099	T	0.92	.	4.1881	0.10407	0.1351:0.2855:0.4213:0.1582	.	1381	P55268	LAMB2_HUMAN	R	1381;1381;148	ENSP00000388325:S1381R;ENSP00000307156:S1381R	ENSP00000307156:S1381R	S	-	3	2	LAMB2	49135650	0.078000	0.21339	0.165000	0.22776	0.802000	0.45316	-0.627000	0.05521	-0.141000	0.11374	-0.182000	0.12963	AGC		0.562	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		38	25	1	0	1.38162e-09	1	1.60567e-09	38	25				
PRKCI	5584	broad.mit.edu	37	3	169993051	169993051	+	Silent	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:169993051G>A	ENST00000295797.4	+	8	986	c.681G>A	c.(679-681)ttG>ttA	p.L227L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	227	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	ATGAGAGTTTGGATCAAGTTG	0.289																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(679-681)ttG>ttA		protein kinase C, iota							135.0	149.0	144.0					3																	169993051		2203	4295	6498	SO:0001819	synonymous_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169993051G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.681G>A	3.37:g.169993051G>A							p.L227L	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		8	986	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		227			Regulatory domain.		D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	c.681G>A	CCDS3212.2																																																																																				0.289	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		7	162	0	0	0	1	0	7	162				
KRTAP4-2	85291	broad.mit.edu	37	17	39334038	39334038	+	Missense_Mutation	SNP	G	G	A	rs367648183		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:39334038G>A	ENST00000377726.2	-	1	422	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	127	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTTGGGCGGCAGCAGGTG	0.582																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(379-381)Cgc>Tgc		keratin associated protein 4-2		G	CYS/ARG	1,4397		0,1,2198	93.0	109.0	104.0		379	-1.9	0.1	17		104	0,8594		0,0,4297	no	missense	KRTAP4-2	NM_033062.3	180	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	127/137	39334038	1,12991	2199	4297	6496	SO:0001583	missense	85291					keratin filament		g.chr17:39334038G>A	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.379C>T	17.37:g.39334038G>A	ENSP00000366955:p.Arg127Cys						p.R127C	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	422	-		Breast(137;0.000496)	127			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.379C>T	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.799188	0.31777	2.27E-4	0.0	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.00637	6.05	4.12	-1.9	0.07665	.	0.672907	0.10691	U	0.645180	T	0.01124	0.0037	M	0.85373	2.75	0.35938	D	0.833009	B	0.12013	0.005	B	0.08055	0.003	T	0.25882	-1.0119	10	0.66056	D	0.02	.	4.3553	0.11176	0.4649:0.0:0.3806:0.1545	.	127	Q9BYR5	KRA42_HUMAN	C	127;244	ENSP00000366955:R127C	ENSP00000366955:R127C	R	-	1	0	KRTAP4-2	36587564	0.705000	0.27846	0.062000	0.19696	0.039000	0.13416	-0.873000	0.04214	-0.611000	0.05709	-0.362000	0.07510	CGC		0.582	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			40	89	0	0	0	1	0	40	89				
ZNF99	7652	broad.mit.edu	37	19	22940079	22940079	+	IGR	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:22940079C>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.C751F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGCTTTGCCACATTCTTCACA	0.343																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2251-2253)tGt>tTt		zinc finger protein 99							43.0	49.0	47.0					19																	22940079		2034	4211	6245	SO:0001628	intergenic_variant	7652							g.chr19:22940079C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940079C>A							p.C751F							6	2251	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2252G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.233784	0.39498	.	.	ENSG00000213973	ENST00000397104	D	0.85861	-2.04	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94407	0.8201	H	0.98629	4.285	0.44918	D	0.997935	D	0.89917	1.0	D	0.85130	0.997	D	0.93266	0.6647	9	0.87932	D	0	.	9.1856	0.37168	0.0:1.0:0.0:0.0	.	751	A8MXY4	ZNF99_HUMAN	F	751	ENSP00000380293:C751F	ENSP00000380293:C751F	C	-	2	0	ZNF99	22731919	0.998000	0.40836	0.048000	0.18961	0.401000	0.30781	3.766000	0.55280	0.585000	0.29608	0.173000	0.16961	TGT		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		20	64	1	0	1.56452e-12	1	1.92213e-12	20	64				
A2M	2	broad.mit.edu	37	12	9256869	9256869	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr12:9256869G>C	ENST00000318602.7	-	11	1539	c.1232C>G	c.(1231-1233)aCc>aGc	p.T411S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	411					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AACATTGGTGGTGTTGATAGA	0.403																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1231-1233)aCc>aGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						150.0	148.0	148.0					12																	9256869		1932	4141	6073	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9256869G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1232C>G	12.37:g.9256869G>C	ENSP00000323929:p.Thr411Ser						p.T411S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			11	1539	-			411					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1232C>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485061	0.63962	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.35973	1.28	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.92219	3.285	0.33491	D	0.588744	D	0.89917	1.0	D	0.91635	0.999	T	0.81450	-0.0927	10	0.66056	D	0.02	.	15.2722	0.73712	0.0:0.0:1.0:0.0	.	411	P01023	A2MG_HUMAN	S	411;426	ENSP00000323929:T411S	ENSP00000323929:T411S	T	-	2	0	A2M	9148136	1.000000	0.71417	0.996000	0.52242	0.485000	0.33311	3.931000	0.56529	2.736000	0.93811	0.655000	0.94253	ACC		0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	23	0	0	0	1	0	3	23				
CST5	1473	broad.mit.edu	37	20	23860252	23860252	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr20:23860252C>A	ENST00000304710.4	-	1	135	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	21					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CGAGGCACTCCCGGCCACGGC	0.597																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(61-63)gGg>gTg		cystatin D							80.0	74.0	76.0					20																	23860252		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860252C>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.62G>T	20.37:g.23860252C>A	ENSP00000307132:p.Gly21Val						p.G21V	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	135	-			21					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.62G>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.340512	0.01277	.	.	ENSG00000170367	ENST00000304710	T	0.09350	2.99	1.47	-2.94	0.05581	.	4.135600	0.00935	N	0.002768	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.17098	0.017	T	0.26780	-1.0093	10	0.16896	T	0.51	.	3.3279	0.07074	0.3816:0.2497:0.3687:0.0	.	21	P28325	CYTD_HUMAN	V	21	ENSP00000307132:G21V	ENSP00000307132:G21V	G	-	2	0	CST5	23808252	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.260000	0.02858	-1.131000	0.02910	-0.573000	0.04149	GGG		0.597	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		29	59	1	0	4.59853e-10	1	5.49269e-10	29	59				
NEDD4	4734	broad.mit.edu	37	15	56142797	56142797	+	Silent	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr15:56142797C>T	ENST00000508342.1	-	10	2846	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGGTGCATGCCGGACTTCCC	0.453																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2545-2547)cgG>cgA		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							175.0	186.0	182.0					15																	56142797		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142797C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2547G>A	15.37:g.56142797C>T						NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R	p.R849R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2846	-			849			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2547G>A		.	.	.	.	.	.	.	.	.	.	C	0.614	-0.823869	0.02755	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.45	-0.523	0.11924	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37596	-0.9699	4	.	.	.	.	5.4306	0.16450	0.0:0.3682:0.2525:0.3793	.	.	.	.	D	440	.	.	G	-	2	0	NEDD4	53930089	0.974000	0.33945	0.982000	0.44146	0.001000	0.01503	0.073000	0.14640	-0.121000	0.11787	-1.151000	0.01829	GGC		0.453	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	194	0	0	0	1	0	4	194				
SLC35G3	146861	broad.mit.edu	37	17	33520580	33520580	+	Silent	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:33520580G>A	ENST00000297307.5	-	1	832	c.747C>T	c.(745-747)gaC>gaT	p.D249D	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	249						integral component of membrane (GO:0016021)											AACTCAGGAGGTCACTGGGCA	0.642																																						ENST00000297307.5																			0											c.(745-747)gaC>gaT		solute carrier family 35, member G3							91.0	88.0	89.0					17																	33520580		2203	4298	6501	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520580G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.747C>T	17.37:g.33520580G>A							p.D249D	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	832	-			249					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.747C>T	CCDS11293.1																																																																																				0.642	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	100	0	0	0	1	0	4	100				
TELO2	9894	broad.mit.edu	37	16	1551468	1551468	+	Silent	SNP	C	C	G	rs541069927		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr16:1551468C>G	ENST00000262319.6	+	10	1608	c.1329C>G	c.(1327-1329)ccC>ccG	p.P443P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	443					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCCTCCCCCCAGCCTGCGG	0.701													c|||	1	0.000199681	0.0	0.0	5008	,	,		13681	0.001		0.0	False		,,,				2504	0.0					ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1327-1329)ccC>ccG		telomere maintenance 2							32.0	31.0	31.0					16																	1551468		2196	4298	6494	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1551468C>G	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1329C>G	16.37:g.1551468C>G							p.P443P	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			10	1608	+		Hepatocellular(780;0.219)	443					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.1329C>G	CCDS32363.1																																																																																				0.701	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		9	5	0	0	0	1	0	9	5				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	17	0	0	0	1	0	4	17				
MRPS31P5	100887750	broad.mit.edu	37	13	52742043	52742043	+	RNA	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr13:52742043G>A	ENST00000451298.1	-	0	3596				MRPS31P5_ENST00000416599.1_RNA																							TCTACAAAACGCGAGTAGCAG	0.448																																						ENST00000451298.1																			0																																																			100887750							g.chr13:52742043G>A																													13.37:g.52742043G>A						RP11-64P12.8_ENST00000606031.1_RNA								0	3596	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.448	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			5	7	0	0	0	1	0	5	7				
ZC3H12A	80149	broad.mit.edu	37	1	37948042	37948042	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:37948042C>T	ENST00000373087.6	+	5	942	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGTTTATGCCCCCTGATGA	0.592																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(826-828)Ccc>Tcc		zinc finger CCCH-type containing 12A							80.0	92.0	88.0					1																	37948042		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948042C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.826C>T	1.37:g.37948042C>T	ENSP00000362179:p.Pro276Ser						p.P276S	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			5	942	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	276						Missense_Mutation	SNP	ENST00000373087.6	37	c.826C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146008	0.77888	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44083	0.93	5.05	5.05	0.67936	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81446	-0.0929	10	0.87932	D	0	-25.2062	18.7673	0.91878	0.0:1.0:0.0:0.0	.	276	Q5D1E8	ZC12A_HUMAN	S	276	ENSP00000362179:P276S	ENSP00000362174:P276S	P	+	1	0	ZC3H12A	37720629	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	7.729000	0.84864	2.477000	0.83638	0.563000	0.77884	CCC		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		4	106	0	0	0	1	0	4	106				
PHLDB2	90102	broad.mit.edu	37	3	111603238	111603238	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:111603238T>C	ENST00000431670.2	+	2	725	c.314T>C	c.(313-315)aTg>aCg	p.M105T	PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	105						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATATTCCTATGAAACCTCCA	0.463																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(313-315)aTg>aCg		pleckstrin homology-like domain, family B, member 2							214.0	233.0	227.0					3																	111603238		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603238T>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.314T>C	3.37:g.111603238T>C	ENSP00000405405:p.Met105Thr					PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T	p.M105T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	725	+			105					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.314T>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.271473	0.00257	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.28895	1.59;1.61;1.6;1.6;1.61;1.6	5.77	0.68	0.17980	.	1.047270	0.07356	N	0.883269	T	0.11623	0.0283	N	0.08118	0	0.23144	N	0.998229	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.32268	-0.9913	10	0.02654	T	1	.	3.5088	0.07700	0.1625:0.2881:0.0:0.5494	.	105;105;105;105;132	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	T	132;132;105;105;105;105;105;105;105	ENSP00000377500:M132T;ENSP00000405405:M105T;ENSP00000405292:M105T;ENSP00000418296:M105T;ENSP00000377502:M105T;ENSP00000418319:M105T	ENSP00000352764:M132T	M	+	2	0	PHLDB2	113085928	0.616000	0.27035	0.928000	0.36995	0.288000	0.27193	0.051000	0.14141	0.549000	0.28973	0.533000	0.62120	ATG		0.463	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		142	117	0	0	0	1	0	142	117				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	100	0	0	0	1	0	4	100				
TRPM1	4308	broad.mit.edu	37	15	31362169	31362169	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr15:31362169C>A	ENST00000559179.1	-	3	411	c.278G>T	c.(277-279)aGc>aTc	p.S93I	TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron	NM_001252030.1	NP_001238959.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGTTTGGGGCTGGGAGACTG	0.463																																						ENST00000559179.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(277-279)aGc>aTc		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362169C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000559179.1:c.278G>T	15.37:g.31362169C>A	ENSP00000453851:p.Ser93Ile					TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron	p.S93I	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	411	-		all_lung(180;1.92e-11)	1378						Missense_Mutation	SNP	ENST00000559179.1	37	c.278G>T	CCDS58345.1																																																																																				0.463	TRPM1-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417168.1	NM_002420		5	290	1	0	0.000602214	1	0.00064738	5	290				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374420	95374420	+	RNA	SNP	A	A	G			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:95374420A>G	ENST00000494840.1	-	0	1441					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		CTGGAGAAAAAGCATTGCAGA	0.413																																						ENST00000494840.1																			0																																																			100287639							g.chr3:95374420A>G			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374420A>G								NR_077228.1						0	1441	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.413	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			3	44	0	0	0	1	0	3	44				
TTN	7273	broad.mit.edu	37	2	179469737	179469737	+	Missense_Mutation	SNP	C	C	T	rs376932266		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:179469737C>T	ENST00000591111.1	-	230	49468	c.49244G>A	c.(49243-49245)cGa>cAa	p.R16415Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18056Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16415	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACATTTCGGAACACTGA	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54166-54168)cGa>cAa		titin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3884		0,0,1942	259.0	241.0	247.0		26972,46463,27347,27548	5.1	1.0	2		247	1,8263		0,1,4131	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	8991/26927,15488/33424,9116/27052,9183/27119	179469737	1,12147	1942	4132	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469737C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49244G>A	2.37:g.179469737C>T	ENSP00000465570:p.Arg16415Gln					TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16415Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.R18056Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	54391	-			16415			Fibronectin type-III 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54167G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563247	0.45694	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.95	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.31476	0.935	0.44652	D	0.997631	P;P;P;P	0.46142	0.873;0.873;0.873;0.774	B;B;B;B	0.35655	0.207;0.207;0.207;0.207	T	0.60959	-0.7159	9	0.87932	D	0	.	15.0246	0.71659	0.0:0.9319:0.0:0.0681	.	8991;9116;9183;16415	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15488;8991;9183;9116;8991	ENSP00000343764:R15488Q;ENSP00000434586:R8991Q;ENSP00000340554:R9183Q;ENSP00000352154:R9116Q	ENSP00000340554:R9183Q	R	-	2	0	TTN	179177982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.754000	0.55189	1.517000	0.48917	0.563000	0.77884	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	116	0	0	0	1	0	79	116				
IL19	29949	broad.mit.edu	37	1	207014409	207014409	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:207014409G>A	ENST00000270218.6	+	6	1363	c.424G>A	c.(424-426)Gac>Aac	p.D142N	IL19_ENST00000340758.2_Missense_Mutation_p.D180N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	142					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTCATCCATGACAACTATGA	0.512																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(424-426)Gac>Aac		interleukin 19							119.0	91.0	100.0					1																	207014409		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207014409G>A	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.424G>A	1.37:g.207014409G>A	ENSP00000270218:p.Asp142Asn					IL19_ENST00000340758.2_Missense_Mutation_p.D180N	p.D142N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	1363	+			142					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.424G>A	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528254	0.13127	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.16743	2.32;2.32	5.71	-1.02	0.10135	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.361790	0.04145	N	0.320234	T	0.16727	0.0402	L	0.57536	1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.40327	-0.9569	10	0.07813	T	0.8	.	9.4711	0.38842	0.6398:0.0:0.3602:0.0	.	142;180	Q9UHD0;Q5VUT3	IL19_HUMAN;.	N	180;142	ENSP00000343000:D180N;ENSP00000270218:D142N	ENSP00000270218:D142N	D	+	1	0	IL19	205081032	0.004000	0.15560	0.046000	0.18839	0.160000	0.22226	0.077000	0.14738	-0.090000	0.12462	0.591000	0.81541	GAC		0.512	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		10	29	0	0	0	1	0	10	29				
SLC25A23	79085	broad.mit.edu	37	19	6454709	6454709	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:6454709C>A	ENST00000301454.4	-	5	609	c.503G>T	c.(502-504)tGc>tTc	p.C168F	SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	168					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CACTGTCAGGCACTCGCCAAT	0.582																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(502-504)tGc>tTc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							55.0	49.0	51.0					19																	6454709		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454709C>A	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.503G>T	19.37:g.6454709C>A	ENSP00000301454:p.Cys168Phe					SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F	p.C168F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			5	609	-			168					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.503G>T	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	7.837	0.721135	0.15372	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.76968	-1.04;-1.06;-0.91	5.79	3.64	0.41730	.	0.521572	0.23682	N	0.045604	T	0.61924	0.2386	N	0.25647	0.755	0.32996	D	0.525578	B	0.22414	0.069	B	0.14578	0.011	T	0.63594	-0.6602	10	0.62326	D	0.03	-32.7254	5.6294	0.17501	0.1451:0.6394:0.1401:0.0754	.	168	Q9BV35	SCMC3_HUMAN	F	215;168;168	ENSP00000264088:C215F;ENSP00000301454:C168F;ENSP00000334537:C168F	ENSP00000264088:C215F	C	-	2	0	SLC25A23	6405709	1.000000	0.71417	0.988000	0.46212	0.071000	0.16799	1.403000	0.34612	0.773000	0.33404	0.655000	0.94253	TGC		0.582	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		24	63	1	0	3.28513e-13	1	4.15472e-13	24	63				
FAM179B	23116	broad.mit.edu	37	14	45523651	45523651	+	Silent	SNP	A	A	G			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr14:45523651A>G	ENST00000361577.3	+	15	4513	c.4299A>G	c.(4297-4299)ccA>ccG	p.P1433P	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Silent_p.P1486P	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1433										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGAGATACCATTAGATACTC	0.323																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4456-4458)ccA>ccG		family with sequence similarity 179, member B							84.0	81.0	82.0					14																	45523651		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45523651A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4299A>G	14.37:g.45523651A>G						FAM179B_ENST00000361577.3_Silent_p.P1433P|FAM179B_ENST00000382233.2_3'UTR	p.P1486P			Q9Y4F4	F179B_HUMAN			16	4641	+			1433					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.4458A>G	CCDS9681.1																																																																																				0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		17	59	0	0	0	1	0	17	59				
OSBPL7	114881	broad.mit.edu	37	17	45894036	45894036	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:45894036G>C	ENST00000007414.3	-	10	1012	c.821C>G	c.(820-822)cCc>cGc	p.P274R	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	274					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGACAGGTTGGGAACAGAGCC	0.652																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)cCc>cGc		oxysterol binding protein-like 7							46.0	48.0	47.0					17																	45894036		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45894036G>C	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.821C>G	17.37:g.45894036G>C	ENSP00000007414:p.Pro274Arg					OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R	p.P274R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			10	1012	-			274					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.821C>G	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790046	0.50102	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.19250	2.16;2.16	5.44	5.44	0.79542	.	0.719415	0.13525	N	0.381393	T	0.48021	0.1477	M	0.75615	2.305	0.52501	D	0.999956	D	0.76494	0.999	D	0.66716	0.946	T	0.35101	-0.9802	10	0.59425	D	0.04	-37.1624	16.5557	0.84484	0.0:0.0:1.0:0.0	.	274	Q9BZF2	OSBL7_HUMAN	R	274	ENSP00000007414:P274R;ENSP00000376295:P274R	ENSP00000007414:P274R	P	-	2	0	OSBPL7	43249035	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.386000	0.79775	2.732000	0.93576	0.655000	0.94253	CCC		0.652	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		4	31	0	0	0	1	0	4	31				
OR6Y1	391112	broad.mit.edu	37	1	158517139	158517139	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:158517139C>T	ENST00000302617.3	-	1	756	c.757G>A	c.(757-759)Gta>Ata	p.V253I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGAATTACGACGGTCAGG	0.507																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(757-759)Gta>Ata		olfactory receptor, family 6, subfamily Y, member 1							182.0	175.0	178.0					1																	158517139		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517139C>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.757G>A	1.37:g.158517139C>T	ENSP00000304807:p.Val253Ile						p.V253I	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	756	-	all_hematologic(112;0.0378)		253					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.757G>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296578	0.60086	.	.	ENSG00000197532	ENST00000302617	T	0.00340	8.04	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001850	T	0.00412	0.0013	M	0.78344	2.41	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48969	-0.8987	10	0.62326	D	0.03	.	13.5049	0.61479	0.1568:0.8431:0.0:0.0	.	253	Q8NGX8	OR6Y1_HUMAN	I	253	ENSP00000304807:V253I	ENSP00000304807:V253I	V	-	1	0	OR6Y1	156783763	0.544000	0.26441	0.885000	0.34714	0.927000	0.56198	1.332000	0.33805	2.763000	0.94921	0.655000	0.94253	GTA		0.507	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		8	61	0	0	0	1	0	8	61				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			3	13	0	0	0	1	0	3	13				
CGGBP1	8545	broad.mit.edu	37	3	88104673	88104673	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:88104673G>T	ENST00000398392.2	-	1	1786	c.454C>A	c.(454-456)Cct>Act	p.P152T	CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TATCCATCAGGAAGATATGCC	0.448																																						ENST00000398392.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(454-456)Cct>Act		CGG triplet repeat binding protein 1							133.0	126.0	128.0					3																	88104673		1950	4160	6110	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104673G>T	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.454C>A	3.37:g.88104673G>T	ENSP00000381429:p.Pro152Thr					CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T	p.P152T			Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	1	1786	-		Lung NSC(201;0.0283)	152					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.454C>A	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894465	0.52121	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.7	5.7	0.88788	.	0.000000	0.38959	U	0.001505	T	0.63177	0.2489	L	0.27053	0.805	0.45118	D	0.998133	D	0.69078	0.997	D	0.68483	0.958	T	0.56890	-0.7904	9	0.21540	T	0.41	-8.68	17.0533	0.86525	0.0:0.0:1.0:0.0	.	152	Q9UFW8	CGBP1_HUMAN	T	152	.	ENSP00000381428:P152T	P	-	1	0	CGGBP1	88187363	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.234000	0.72326	2.711000	0.92665	0.650000	0.86243	CCT		0.448	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		7	72	1	0	5.18039e-06	1	5.71171e-06	7	72				
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		7	179						7	179	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170492941	170492945	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:170492941_170492945delAAAAG	ENST00000260970.3	+	14	1393_1397	c.1173_1177delAAAAG	c.(1171-1179)ataaaagaafs	p.KE392fs	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Del_p.KE392fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.KE377fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	392					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGAATGAAATAAAAGAAAATCAGAG	0.288																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1171-1179)ataafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170492941_170492945delAAAAG	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1173_1177delAAAAG	2.37:g.170492941_170492945delAAAAG	ENSP00000260970:p.Lys392fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.IKE391fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.IKE376fs|PPIG_ENST00000482772.1_3'UTR	p.IKE391fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1393_1397	+			391					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.1173_1177delAAAAG	CCDS2235.1																																																																																				0.288	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			24	63						24	63	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	-	T	rs537061158	byFrequency	TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr8:48866909_48866910insT	ENST00000314191.2	-	5	552_553	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(496-498)accfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866909_48866910insT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.497dupA	8.37:g.48866919_48866919dupT	ENSP00000313420:p.Ile166fs					PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs|PRKDC_ENST00000523565.1_5'UTR	p.T166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			5	552_553	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	166					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.496_497insA																																																																																					0.267	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56511186	56511186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr11:56511186delT	ENST00000302957.3	-	1	101	c.102delA	c.(100-102)gcafs	p.A34fs		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACTGGGAATCTGCTGAGAAAC	0.433																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(100-102)gcfs		olfactory receptor, family 9, subfamily G, member 4							76.0	70.0	72.0					11																	56511186		2201	4296	6497	SO:0001589	frameshift_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511186delT	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.102delA	11.37:g.56511186delT	ENSP00000307515:p.Ala34fs						p.A34fs	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	101	-			34					Q6IF62|Q96RA9	Frame_Shift_Del	DEL	ENST00000302957.3	37	c.102delA	CCDS31537.1																																																																																				0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		7	64						7	64	---	---	---	---
