#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
CMPK1	51727	broad.mit.edu	37	1	47838725	47838725	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:47838725C>T	ENST00000371873.5	+	3	566	c.417C>T	c.(415-417)acC>acT	p.T139T	CMPK1_ENST00000450808.2_Silent_p.T90T	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						GGAACAAGACCATGGATGGGA	0.388																																						uc001cri.2																			0				ovary(1)	1						c.(415-417)ACC>ACT		UMP-CMP kinase 1 isoform a	Gemcitabine(DB00441)						146.0	127.0	133.0					1																	47838725		2203	4300	6503	SO:0001819	synonymous_variant	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47838725C>T	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.417C>T	1.37:g.47838725C>T						CMPK1_uc010omp.1_Silent_p.T90T|CMPK1_uc010omq.1_RNA	p.T139T	NM_016308	NP_057392	P30085	KCY_HUMAN			3	566	+			107						Silent	SNP	ENST00000371873.5	37	c.417C>T	CCDS549.1																																																																																				0.388	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308	
DDAH1	23576	broad.mit.edu	37	1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:85790448G>A	ENST00000284031.8	-	5	810	c.716C>T	c.(715-717)cCg>cTg	p.P239L	DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473																																						uc001dlb.2																			0					0						c.(715-717)CCG>CTG		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						108.0	107.0	108.0					1																	85790448		2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85790448G>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.716C>T	1.37:g.85790448G>A	ENSP00000284031:p.Pro239Leu					DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L	p.P239L	NM_012137	NP_036269	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	5	877	-			239					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.716C>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292188	0.59976	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.87	4.96	0.65561	.	0.159055	0.64402	D	0.000020	T	0.72566	0.3476	M	0.87328	2.875	0.80722	D	1	B;D	0.71674	0.438;0.998	B;P	0.58210	0.139;0.835	T	0.78740	-0.2086	9	0.56958	D	0.05	-2.6721	14.974	0.71257	0.0682:0.0:0.9318:0.0	.	139;239	B4DYP1;O94760	.;DDAH1_HUMAN	L	239;239;136;146;139	.	ENSP00000284031:P239L	P	-	2	0	DDAH1	85563036	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.431000	0.97494	1.501000	0.48654	-0.136000	0.14681	CCG		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1		
PKN2	5586	broad.mit.edu	37	1	89294277	89294277	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:89294277G>A	ENST00000370521.3	+	19	2892	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	PKN2_ENST00000544045.1_Missense_Mutation_p.V519M|PKN2_ENST00000370505.3_Missense_Mutation_p.V688M|PKN2_ENST00000370513.5_Missense_Mutation_p.V797M	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGGCCTTGGCGTGCTTATATA	0.383																																						uc001dmn.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(2533-2535)GTG>ATG		protein kinase N2							108.0	101.0	103.0					1																	89294277		1873	4108	5981	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89294277G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2533G>A	1.37:g.89294277G>A	ENSP00000359552:p.Val845Met					PKN2_uc010osp.1_Missense_Mutation_p.V829M|PKN2_uc010osq.1_Missense_Mutation_p.V688M|PKN2_uc009wcv.2_Missense_Mutation_p.V797M|PKN2_uc010osr.1_Missense_Mutation_p.V510M	p.V845M	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	19	2875	+		Lung NSC(277;0.123)	845			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2533G>A	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.50|18.50	3.638327|3.638327	0.67130|0.67130	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000449189|ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.185630	.|0.25200	.|U	.|0.032387	T|T	0.40595|0.40595	0.1123|0.1123	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.53619	.|0.961;0.919;0.561	.|P;B;B	.|0.48901	.|0.594;0.341;0.076	T|T	0.47005|0.47005	-0.9150|-0.9150	5|10	.|0.72032	.|D	.|0.01	.|.	19.3595|19.3595	0.94431|0.94431	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|829;797;845	.|B4DTP5;E7ESL7;Q16513	.|.;.;PKN2_HUMAN	H|M	52|845;688;797;519;99	.|ENSP00000359552:V845M;ENSP00000359536:V688M;ENSP00000359544:V797M;ENSP00000439643:V519M	.|ENSP00000359536:V688M	R|V	+|+	2|1	0|0	PKN2|PKN2	89066865|89066865	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	9.263000|9.263000	0.95617|0.95617	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.383	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	
OR14C36	127066	broad.mit.edu	37	1	248512862	248512862	+	Silent	SNP	G	G	A	rs143199703		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:248512862G>A	ENST00000317861.1	+	1	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A262A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463																																						uc010pzl.1																			1	Substitution - coding silent(1)	p.A262A(1)	skin(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(784-786)GCG>GCA		olfactory receptor, family 14, subfamily C,							152.0	112.0	126.0					1																	248512862		2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512862G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.786G>A	1.37:g.248512862G>A							p.A262A	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	786	+			262			Extracellular (Potential).		Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.786G>A	CCDS31112.1																																																																																				0.463	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918	
CRY2	1408	broad.mit.edu	37	11	45891983	45891983	+	Silent	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr11:45891983G>A	ENST00000443527.2	+	9	1534	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	CRY2_ENST00000417225.2_Silent_p.V422V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	483					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCATTGGTGTGGACTACCCAC	0.532																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1																			0				central_nervous_system(1)	1						c.(1510-1512)GTG>GTA		cryptochrome 2 (photolyase-like) isoform 1							101.0	86.0	91.0					11																	45891983		2203	4299	6502	SO:0001819	synonymous_variant	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891983G>A	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1512G>A	11.37:g.45891983G>A						CRY2_uc009ykw.2_Silent_p.V422V|CRY2_uc010rgo.1_Silent_p.V226V	p.V504V	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			9	1534	+			483			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	ENST00000443527.2	37	c.1512G>A	CCDS7915.2																																																																																				0.532	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117	
P2RX2	22953	broad.mit.edu	37	12	133197851	133197853	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr12:133197851_133197853delTAC	ENST00000389110.3	+	9	953_955	c.916_918delTAC	c.(916-918)tacdel	p.Y307del	P2RX2_ENST00000352418.4_In_Frame_Del_p.Y235del|P2RX2_ENST00000348800.5_In_Frame_Del_p.Y307del|P2RX2_ENST00000351222.4_In_Frame_Del_p.Y215del|P2RX2_ENST00000343948.4_In_Frame_Del_p.Y307del|P2RX2_ENST00000449132.2_In_Frame_Del_p.Y273del|P2RX2_ENST00000350048.5_In_Frame_Del_p.Y283del	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	307					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTTTGCCAAATACTACAAGATCA	0.606																																						uc001ukj.1																			0					0						c.(916-918)TACdel		purinergic receptor P2X2 isoform A																																				SO:0001651	inframe_deletion	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197851_133197853delTAC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.916_918delTAC	12.37:g.133197854_133197856delTAC	ENSP00000373762:p.Tyr307del					P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukk.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del	p.Y307del	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	9	916_918	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	307			Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	In_Frame_Del	DEL	ENST00000389110.3	37	c.916_918delTAC	CCDS31931.1																																																																																				0.606	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		
RIPK3	11035	broad.mit.edu	37	14	24808471	24808471	+	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr14:24808471C>T	ENST00000216274.5	-	3	439	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCTTCTAGGCGCAGCACGAA	0.577																																					Pancreas(58;918 1191 4668 13304 15331)	uc001wpb.2																			0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(220-222)CGC>CAC		receptor-interacting serine-threonine kinase 3							98.0	84.0	89.0					14																	24808471		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808471C>T	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.221G>A	14.37:g.24808471C>T	ENSP00000216274:p.Arg74His					RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	p.R74H	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	431	-			74			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.221G>A	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270086	0.59540	.	.	ENSG00000129465	ENST00000216274	T	0.64803	-0.12	4.69	-9.39	0.00619	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.414830	0.04606	N	0.399321	T	0.56062	0.1960	L	0.37466	1.105	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.60609	0.877;0.791	T	0.61382	-0.7074	10	0.37606	T	0.19	-0.0924	1.2097	0.01902	0.1463:0.3213:0.2326:0.2999	.	74;74	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	H	74	ENSP00000216274:R74H	ENSP00000216274:R74H	R	-	2	0	RIPK3	23878311	0.004000	0.15560	0.000000	0.03702	0.013000	0.08279	-0.532000	0.06164	-1.975000	0.00997	-0.397000	0.06425	CGC		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	
MYH1	4619	broad.mit.edu	37	17	10404048	10404048	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr17:10404048G>A	ENST00000226207.5	-	28	3854	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1254					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAGAGCGCGGCACATCTTT	0.448																																						uc002gmo.2																			0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3760-3762)CGC>TGC		myosin, heavy chain 1, skeletal muscle, adult							138.0	123.0	128.0					17																	10404048		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404048G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3760C>T	17.37:g.10404048G>A	ENSP00000226207:p.Arg1254Cys					uc002gml.1_Intron	p.R1254C	NM_005963	NP_005954	P12882	MYH1_HUMAN			28	3854	-			1254			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3760C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147411	0.77888	.	.	ENSG00000109061	ENST00000226207	T	0.79247	-1.25	5.45	5.45	0.79879	Myosin tail (1);	0.000000	0.43110	U	0.000603	D	0.92331	0.7567	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.94239	0.7483	10	0.87932	D	0	.	19.6413	0.95758	0.0:0.0:1.0:0.0	.	1254	P12882	MYH1_HUMAN	C	1254	ENSP00000226207:R1254C	ENSP00000226207:R1254C	R	-	1	0	MYH1	10344773	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	2.025000	0.41059	2.716000	0.92895	0.650000	0.86243	CGC		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
ACTN4	81	broad.mit.edu	37	19	39205183	39205183	+	Silent	SNP	C	C	T	rs568574676	byFrequency	TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:39205183C>T	ENST00000252699.2	+	9	970	c.894C>T	c.(892-894)taC>taT	p.Y298Y	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Silent_p.Y79Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	298					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGACTACGAGAAGCTGG	0.582													C|||	4	0.000798722	0.0	0.0	5008	,	,		20116	0.004		0.0	False		,,,				2504	0.0				Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			0					0						c.(892-894)TAC>TAT		actinin, alpha 4							98.0	79.0	86.0					19																	39205183		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39205183C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.894C>T	19.37:g.39205183C>T						ACTN4_uc010egc.1_Silent_p.Y298Y	p.Y298Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	953	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		298			Spectrin 1.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.894C>T	CCDS12518.1																																																																																				0.582	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
SPHK2	56848	broad.mit.edu	37	19	49132916	49132916	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:49132916C>T	ENST00000245222.4	+	7	2217	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	SPHK2_ENST00000599029.1_Silent_p.G581G|SPHK2_ENST00000340932.3_Silent_p.G579G|SPHK2_ENST00000443164.1_Silent_p.G679G|SPHK2_ENST00000598088.1_Silent_p.G617G|SPHK2_ENST00000599748.1_Silent_p.G581G|SPHK2_ENST00000600537.1_Silent_p.G558G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	617					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACCACGCGGCGTGCTCACAG	0.682																																						uc002pjr.2																			0				lung(1)	1						c.(1849-1851)GGC>GGT		sphingosine kinase 2							18.0	16.0	17.0					19																	49132916		2197	4294	6491	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132916C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1851C>T	19.37:g.49132916C>T						SPHK2_uc010xzt.1_Silent_p.G558G|SPHK2_uc002pjs.2_Silent_p.G617G|SPHK2_uc002pjt.2_Silent_p.G411G|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.G581G|SPHK2_uc002pjw.2_Silent_p.G679G	p.G617G	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	2217	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	617					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1851C>T	CCDS12727.1																																																																																				0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1		
NLRP5	126206	broad.mit.edu	37	19	56539737	56539737	+	Missense_Mutation	SNP	C	C	T	rs368341158		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:56539737C>T	ENST00000390649.3	+	7	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	713					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2137-2139)CCG>CTG		NACHT, LRR and PYD containing protein 5		C	LEU/PRO	0,3974		0,0,1987	133.0	136.0	135.0		2138	-0.3	0.0	19		135	1,8343		0,1,4171	no	missense	NLRP5	NM_153447.4	98	0,1,6158	TT,TC,CC		0.012,0.0,0.0081	benign	713/1201	56539737	1,12317	1987	4172	6159	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539737C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2138C>T	19.37:g.56539737C>T	ENSP00000375063:p.Pro713Leu					NLRP5_uc002qmi.2_Missense_Mutation_p.P694L	p.P713L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2138	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	713			LRR 1.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2138C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219792	0.22373	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.86956	-2.19	3.26	-0.292	0.12839	.	0.734945	0.11235	N	0.585277	T	0.70439	0.3224	N	0.17674	0.51	0.09310	N	1	B	0.26577	0.153	B	0.17722	0.019	T	0.54892	-0.8225	10	0.22706	T	0.39	.	1.7075	0.02885	0.2143:0.4524:0.2089:0.1244	.	713	P59047	NALP5_HUMAN	L	713	ENSP00000375063:P713L	ENSP00000375063:P713L	P	+	2	0	NLRP5	61231549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.660000	0.05317	0.034000	0.15491	0.561000	0.74099	CCG		0.493	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
MZF1	7593	broad.mit.edu	37	19	59081801	59081801	+	Missense_Mutation	SNP	C	C	G			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:59081801C>G	ENST00000215057.2	-	3	1050	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MZF1_ENST00000599369.1_Missense_Mutation_p.E164Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E164Q|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E164Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	164					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCCAGGCTCTGGAGTTGGA	0.582																																						uc002qto.2																			0				ovary(1)	1						c.(490-492)GAG>CAG		zinc finger protein 42 isoform 2							119.0	107.0	111.0					19																	59081801		2203	4300	6503	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59081801C>G	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.490G>C	19.37:g.59081801C>G	ENSP00000215057:p.Glu164Gln					LOC100131691_uc002qtm.2_RNA|MZF1_uc002qtn.2_Missense_Mutation_p.E164Q|MZF1_uc010euu.1_Missense_Mutation_p.E205Q	p.E164Q	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	3	1051	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	164					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.490G>C	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.322	0.617161	0.14129	.	.	ENSG00000099326	ENST00000215057	T	0.07216	3.21	4.99	3.92	0.45320	.	0.398692	0.18276	N	0.146148	T	0.04407	0.0121	N	0.08118	0	0.22199	N	0.999299	P;B	0.37955	0.612;0.07	B;B	0.35607	0.206;0.038	T	0.42189	-0.9466	9	.	.	.	-7.2672	11.2062	0.48771	0.0:0.8145:0.1855:0.0	.	164;164	Q7Z729;P28698	.;MZF1_HUMAN	Q	164	ENSP00000215057:E164Q	.	E	-	1	0	MZF1	63773613	0.000000	0.05858	0.776000	0.31678	0.056000	0.15407	-0.371000	0.07513	1.403000	0.46800	0.655000	0.94253	GAG		0.582	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055	
MX1	4599	broad.mit.edu	37	21	42812934	42812934	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr21:42812934G>A	ENST00000398600.2	+	11	1737	c.712G>A	c.(712-714)Gag>Aag	p.E238K	MX1_ENST00000455164.2_Missense_Mutation_p.E238K|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.E238K|MX1_ENST00000288383.6_Missense_Mutation_p.E215K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	238	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGTGGACCCCGAGGGAGACAG	0.632																																						uc002yzh.2																			0				ovary(1)	1						c.(712-714)GAG>AAG		myxovirus resistance protein 1							64.0	64.0	64.0					21																	42812934		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42812934G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.712G>A	21.37:g.42812934G>A	ENSP00000381601:p.Glu238Lys					MX1_uc002yzi.2_Missense_Mutation_p.E238K|MX1_uc010goq.2_Missense_Mutation_p.E238K	p.E238K	NM_001144925	NP_001138397	P20591	MX1_HUMAN			11	1659	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	238					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.712G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106653	0.37145	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	4.65	1.82	0.25136	Dynamin, GTPase domain (2);	0.877222	0.10255	N	0.696656	D	0.91300	0.7257	L	0.37850	1.14	0.09310	N	1	B	0.28291	0.206	B	0.21917	0.037	D	0.83751	0.0209	10	0.45353	T	0.12	-10.5695	3.365	0.07201	0.3304:0.2251:0.4446:0.0	.	238	P20591	MX1_HUMAN	K	238;238;238;215	ENSP00000381601:E238K;ENSP00000381599:E238K;ENSP00000410523:E238K;ENSP00000288383:E215K	ENSP00000288383:E215K	E	+	1	0	MX1	41734804	0.000000	0.05858	0.042000	0.18584	0.931000	0.56810	0.075000	0.14686	0.641000	0.30601	0.650000	0.86243	GAG		0.632	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
PLCD1	5333	broad.mit.edu	37	3	38051499	38051499	+	Missense_Mutation	SNP	G	G	C			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr3:38051499G>C	ENST00000334661.4	-	8	1405	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.L416V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	395	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGCTGCTCCAGTGTGCAGTGG	0.647																																						uc003chn.2																			0				skin(1)	1						c.(1183-1185)CTG>GTG		phospholipase C, delta 1 isoform 2							62.0	65.0	64.0					3																	38051499		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38051499G>C		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1183C>G	3.37:g.38051499G>C	ENSP00000335600:p.Leu395Val					PLCD1_uc003chm.2_Missense_Mutation_p.L416V	p.L395V	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	8	1307	-			395			PI-PLC X-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1183C>G	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.301959	0.05495	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.63255	-0.03;-0.03	4.92	0.993	0.19825	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.133081	0.51477	N	0.000087	T	0.31009	0.0783	N	0.03194	-0.395	0.40644	D	0.98197	B;B	0.25169	0.119;0.017	B;B	0.31812	0.136;0.05	T	0.21895	-1.0232	10	0.05620	T	0.96	.	7.3756	0.26827	0.2039:0.2222:0.5739:0.0	.	395;416	P51178;B3KR14	PLCD1_HUMAN;.	V	416;395	ENSP00000430344:L416V;ENSP00000335600:L395V	ENSP00000335600:L395V	L	-	1	2	PLCD1	38026503	0.788000	0.28762	1.000000	0.80357	0.568000	0.35870	0.626000	0.24492	0.227000	0.20999	-0.456000	0.05471	CTG		0.647	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
MTMR12	54545	broad.mit.edu	37	5	32230234	32230234	+	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr5:32230234C>T	ENST00000382142.3	-	16	2064	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	MTMR12_ENST00000280285.5_Missense_Mutation_p.E578K|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.E522K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	632	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGGGCCCCTCGATATGCGGT	0.493																																						uc003jhq.2																			0				ovary(1)	1						c.(1894-1896)GAG>AAG		myotubularin related protein 12							96.0	96.0	96.0					5																	32230234		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230234C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1894G>A	5.37:g.32230234C>T	ENSP00000371577:p.Glu632Lys					MTMR12_uc010iuk.2_Missense_Mutation_p.E578K|MTMR12_uc010iul.2_Missense_Mutation_p.E522K	p.E632K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	2064	-			632			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1894G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277102	0.59758	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90261	-2.64;-2.64;-2.64	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);	0.239644	0.41500	D	0.000862	D	0.92283	0.7552	L	0.54323	1.7	0.33133	D	0.543326	D;D;D	0.61080	0.981;0.986;0.989	P;P;P	0.51895	0.615;0.555;0.683	D	0.94062	0.7327	10	0.66056	D	0.02	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	522;578;632	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	578;632;522	ENSP00000280285:E578K;ENSP00000371577:E632K;ENSP00000264934:E522K	ENSP00000264934:E522K	E	-	1	0	MTMR12	32265991	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.195000	0.72088	2.733000	0.93635	0.561000	0.74099	GAG		0.493	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
PHF1	5252	broad.mit.edu	37	6	33380059	33380059	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:33380059C>T	ENST00000374516.3	+	2	290	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PHF1_ENST00000374512.3_Silent_p.L7L|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	7					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCCCCCCCGGCTGAGCCGCTC	0.597																																						uc003oeh.2																			0					0						c.(19-21)CTG>TTG		PHD finger protein 1 isoform b							26.0	29.0	28.0					6																	33380059		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380059C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.19C>T	6.37:g.33380059C>T						PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.L7L|PHF1_uc010jux.2_5'UTR	p.L7L	NM_024165	NP_077084	O43189	PHF1_HUMAN			2	255	+		Ovarian(999;0.0443)	7					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.19C>T	CCDS4777.1																																																																																				0.597	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3		
COL21A1	81578	broad.mit.edu	37	6	56044496	56044496	+	Missense_Mutation	SNP	T	T	C			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:56044496T>C	ENST00000244728.5	-	3	917	c.520A>G	c.(520-522)Aca>Gca	p.T174A	COL21A1_ENST00000535941.1_Missense_Mutation_p.T174A|COL21A1_ENST00000370819.1_Missense_Mutation_p.T174A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCATCTTCTGTTTCTGAACCA	0.398																																						uc003pcs.2																			0				ovary(2)	2						c.(520-522)ACA>GCA		collagen, type XXI, alpha 1 precursor							94.0	88.0	90.0					6																	56044496		1944	4151	6095	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044496T>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.520A>G	6.37:g.56044496T>C	ENSP00000244728:p.Thr174Ala					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	p.T174A	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	752	-	Lung NSC(77;0.0483)		174			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.520A>G	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995192	0.35226	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.81579	-1.51;-1.51;-1.51	4.66	4.66	0.58398	von Willebrand factor, type A (3);	0.099894	0.41605	D	0.000857	T	0.38532	0.1044	N	0.04355	-0.22	0.80722	D	1	P;B	0.41131	0.739;0.008	B;B	0.36464	0.225;0.023	T	0.60796	-0.7192	10	0.02654	T	1	.	14.3873	0.66953	0.0:0.0:0.0:1.0	.	174;174	Q96P44-3;Q96P44	.;COLA1_HUMAN	A	174	ENSP00000244728:T174A;ENSP00000359855:T174A;ENSP00000444384:T174A	ENSP00000244728:T174A	T	-	1	0	COL21A1	56152455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.026000	0.57232	1.851000	0.53745	0.477000	0.44152	ACA		0.398	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
