#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
DSP	1832	hgsc.bcm.edu	37	6	7581029	7581029	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:7581029A>T	ENST00000379802.3	+	23	4947	c.4606A>T	c.(4606-4608)Aca>Tca	p.T1536S	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1536	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1536S(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAAGAACTGACACGCCTGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											121.0	122.0	122.0					6																	7581029		2203	4300	6503	7526028	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4606A>T	6.37:g.7581029A>T	ENSP00000369129:p.Thr1536Ser		7526028	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	5.591	0.293880	0.10567	.	.	ENSG00000096696	ENST00000379802	T	0.69926	-0.44	5.85	-0.687	0.11320	.	0.806919	0.11343	N	0.573806	T	0.17916	0.0430	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09084	T	0.74	.	5.1226	0.14867	0.4183:0.2774:0.3042:0.0	.	1536	P15924	DESP_HUMAN	S	1536	ENSP00000369129:T1536S	ENSP00000369129:T1536S	T	+	1	0	DSP	7526028	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-0.126000	0.10563	-0.093000	0.12396	0.533000	0.62120	ACA		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
BRD2	6046	hgsc.bcm.edu	37	6	32948121	32948121	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:32948121A>C	ENST00000374825.4	+	12	3850	c.2149A>C	c.(2149-2151)Att>Ctt	p.I717L	BRD2_ENST00000395287.1_Missense_Mutation_p.I752L|BRD2_ENST00000449085.2_Missense_Mutation_p.I670L|BRD2_ENST00000374831.4_Missense_Mutation_p.I717L|BRD2_ENST00000395289.2_Missense_Mutation_p.I752L|BRD2_ENST00000443797.2_Missense_Mutation_p.I597L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	717					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.I752L(1)		central_nervous_system(3)|stomach(2)	5						TTCATTAGCCATTAAGAAGCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											90.0	105.0	100.0					6																	32948121		1509	2709	4218	33056099	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2149A>C	6.37:g.32948121A>C	ENSP00000363958:p.Ile717Leu		33056099	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	1.366	-0.587354	0.03799	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.18016	4.35;4.35;4.35;2.24;4.35;4.35	5.04	3.85	0.44370	.	0.138453	0.33253	N	0.005120	T	0.01730	0.0055	N	0.08118	0	0.30927	N	0.727331	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46428	-0.9192	10	0.08837	T	0.75	-7.4889	4.6567	0.12620	0.7045:0.1895:0.106:0.0	.	752;717	A2AAU0;P25440	.;BRD2_HUMAN	L	717;717;752;597;752;670	ENSP00000363958:I717L;ENSP00000363964:I717L;ENSP00000378704:I752L;ENSP00000413495:I597L;ENSP00000378702:I752L;ENSP00000409145:I670L	ENSP00000363958:I717L	I	+	1	0	BRD2	33056099	0.998000	0.40836	0.996000	0.52242	0.006000	0.05464	3.761000	0.55242	0.900000	0.36469	-0.427000	0.05922	ATT		0.443	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		
MARS	4141	hgsc.bcm.edu	37	12	57898051	57898051	+	Missense_Mutation	SNP	C	C	G	rs562565076		TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr12:57898051C>G	ENST00000262027.5	+	11	1471	c.1337C>G	c.(1336-1338)tCg>tGg	p.S446W	MARS_ENST00000315473.5_Missense_Mutation_p.S212W|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	446					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.S446W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTGGTGCAGTCGAGCCAGCAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											132.0	123.0	126.0					12																	57898051		2203	4300	6503	56184318	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1337C>G	12.37:g.57898051C>G	ENSP00000262027:p.Ser446Trp		56184318	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178787	0.57692	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.47528	1.4;0.84	4.77	4.77	0.60923	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.057656	0.64402	D	0.000001	T	0.73713	0.3622	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.80764	0.865;0.994;0.994	T	0.80276	-0.1450	10	0.87932	D	0	-10.3543	16.9243	0.86172	0.0:1.0:0.0:0.0	.	212;319;446	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	W	446;212	ENSP00000262027:S446W;ENSP00000314653:S212W	ENSP00000262027:S446W	S	+	2	0	MARS	56184318	1.000000	0.71417	0.847000	0.33407	0.109000	0.19521	7.155000	0.77445	2.364000	0.80123	0.591000	0.81541	TCG		0.547	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
MPO	4353	hgsc.bcm.edu	37	17	56348030	56348030	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr17:56348030C>A	ENST00000225275.3	-	12	2401	c.2225G>T	c.(2224-2226)aGg>aTg	p.R742M	MPO_ENST00000340482.3_Missense_Mutation_p.R774M	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	742					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R742M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGGCTTCCCTCCAGGAAGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											84.0	74.0	77.0					17																	56348030		2203	4300	6503	53703029	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2225G>T	17.37:g.56348030C>A	ENSP00000225275:p.Arg742Met		53703029	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350633	0.24512	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74209	-0.82;-0.82	5.46	2.4	0.29515	.	0.150054	0.64402	D	0.000016	T	0.76637	0.4015	M	0.93550	3.43	0.31369	N	0.680468	B	0.22851	0.076	B	0.19666	0.026	T	0.75227	-0.3392	10	0.87932	D	0	-21.5625	5.3532	0.16047	0.1338:0.5748:0.0:0.2914	.	742	P05164	PERM_HUMAN	M	774;742	ENSP00000344419:R774M;ENSP00000225275:R742M	ENSP00000225275:R742M	R	-	2	0	MPO	53703029	0.030000	0.19436	0.862000	0.33874	0.244000	0.25665	0.302000	0.19192	0.354000	0.24105	-0.136000	0.14681	AGG		0.542	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
NADSYN1	55191	hgsc.bcm.edu	37	11	71192419	71192419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr11:71192419G>A	ENST00000319023.2	+	12	1204	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.W79*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	339	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.W339*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTGCCTGCTGGCTCTGGGAT	0.567																																					Ovarian(79;763 1781 6490 50276)											1	Substitution - Nonsense(1)	ovary(1)	11											98.0	108.0	104.0					11																	71192419		2200	4294	6494	70870067	SO:0001587	stop_gained	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1016G>A	11.37:g.71192419G>A	ENSP00000326424:p.Trp339*		70870067	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	44	10.881768	0.99483	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1609	16.0537	0.80779	0.0:0.0:1.0:0.0	.	.	.	.	X	339;79	.	ENSP00000326424:W339X	W	+	2	0	NADSYN1	70870067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.388000	0.81334	0.561000	0.74099	TGG		0.567	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	
NFASC	23114	hgsc.bcm.edu	37	1	204923324	204923324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr1:204923324G>A	ENST00000401399.1	+	5	423	c.224G>A	c.(223-225)tGg>tAg	p.W75*	NFASC_ENST00000367170.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.W75*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.W69*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000367172.4_Nonsense_Mutation_p.W75*			O94856	NFASC_HUMAN	neurofascin	75	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.W69*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCTTCCACTGGACACGAAAC	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	1											50.0	46.0	48.0					1																	204923324		2203	4300	6503	203189947	SO:0001587	stop_gained	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.224G>A	1.37:g.204923324G>A	ENSP00000385637:p.Trp75*		203189947	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.049395|8.049395	0.98629|0.98629	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.50627	.|D	.|0.000105	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39333|.	-0.9619|.	3|.	.|0.02654	.|T	.|1	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	45|75;75;75;75;75;75;69;69;69;75;75;75;69;75;75;69;69;45	.|.	.|ENSP00000295776:W69X	G|W	+|+	1|2	0|0	NFASC|NFASC	203189947|203189947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.728000|9.728000	0.98792|0.98792	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
NLRP3	114548	hgsc.bcm.edu	37	1	247597465	247597465	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr1:247597465C>A	ENST00000336119.3	+	5	3134	c.2388C>A	c.(2386-2388)agC>agA	p.S796R	NLRP3_ENST00000366496.2_Missense_Mutation_p.S796R|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739R|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739R|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	796					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S796R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCAGCAGCAACCAGAAGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											131.0	121.0	124.0					1																	247597465		2203	4300	6503	245664088	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2388C>A	1.37:g.247597465C>A	ENSP00000337383:p.Ser796Arg		245664088	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	4.230	0.041539	0.08196	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93076	0.59;0.57;0.59;-3.16;0.57;-3.16	3.44	1.58	0.23477	.	0.747174	0.12005	N	0.508408	D	0.90676	0.7075	M	0.71036	2.16	0.09310	N	1	B;B;B;B	0.30973	0.015;0.302;0.025;0.295	B;B;B;B	0.32465	0.009;0.146;0.036;0.093	T	0.81293	-0.0998	10	0.34782	T	0.22	.	5.7253	0.18010	0.0:0.7519:0.0:0.248	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	R	796;796;796;739;796;739	ENSP00000375704:S796R;ENSP00000355453:S796R;ENSP00000337383:S796R;ENSP00000294752:S739R;ENSP00000355452:S796R;ENSP00000375703:S739R	ENSP00000337383:S796R	S	+	3	2	NLRP3	245664088	0.000000	0.05858	0.442000	0.26870	0.554000	0.35429	0.409000	0.21082	0.481000	0.27557	-0.473000	0.04963	AGC		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
ENDOU	8909	hgsc.bcm.edu	37	12	48105555	48105555	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr12:48105555C>T	ENST00000422538.3	-	9	1098	c.976G>A	c.(976-978)Gat>Aat	p.D326N	ENDOU_ENST00000229003.3_Missense_Mutation_p.D285N|ENDOU_ENST00000542202.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.D263N	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	326					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)	p.D285N(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GGGTAAGAATCCCACTGTGGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											62.0	57.0	58.0					12																	48105555		2203	4300	6503	46391822	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.976G>A	12.37:g.48105555C>T	ENSP00000397679:p.Asp326Asn		46391822	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324529	0.41197	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.11	4.27	0.50696	.	0.308345	0.40554	N	0.001068	T	0.28632	0.0709	L	0.58510	1.815	0.80722	D	1	B;B;B	0.25772	0.077;0.032;0.134	B;B;B	0.27170	0.046;0.077;0.045	T	0.07385	-1.0775	10	0.32370	T	0.25	-16.88	8.8238	0.35043	0.0:0.7683:0.0:0.2317	.	263;326;285	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	N	285;326;263	ENSP00000229003:D285N;ENSP00000397679:D326N	ENSP00000229003:D285N	D	-	1	0	ENDOU	46391822	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.187000	0.32090	1.591000	0.50007	0.655000	0.94253	GAT		0.542	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2	
STK35	140901	hgsc.bcm.edu	37	20	2097577	2097577	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr20:2097577G>T	ENST00000381482.3	+	3	1429	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	STK35_ENST00000246032.3_Missense_Mutation_p.K253N|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K386N(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GACTAAGCAAGGTCTGTGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	20											60.0	52.0	55.0					20																	2097577		2203	4300	6503	2045577	SO:0001583	missense	140901			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1158G>T	20.37:g.2097577G>T	ENSP00000370891:p.Lys386Asn		2045577	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515084	0.64634	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.94280	-3.39;-3.39	5.5	3.45	0.39498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	L	0.41906	1.305	0.80722	D	1	P	0.46859	0.885	P	0.55011	0.766	D	0.90373	0.4382	10	0.54805	T	0.06	-20.1776	5.8404	0.18630	0.2862:0.0:0.7138:0.0	.	386	Q8TDR2	STK35_HUMAN	N	386;253	ENSP00000370891:K386N;ENSP00000246032:K253N	ENSP00000246032:K253N	K	+	3	2	STK35	2045577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	1.561000	0.49584	0.655000	0.94253	AAG		0.527	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836	
TEP1	7011	hgsc.bcm.edu	37	14	20851795	20851795	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr14:20851795A>G	ENST00000262715.5	-	26	3759	c.3719T>C	c.(3718-3720)gTg>gCg	p.V1240A	TEP1_ENST00000556935.1_Missense_Mutation_p.V1132A|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1240A(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTCCCACACCAGGCTTCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	14											26.0	30.0	29.0					14																	20851795		2203	4300	6503	19921635	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3719T>C	14.37:g.20851795A>G	ENSP00000262715:p.Val1240Ala		19921635	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838269	0.71373	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.79454	-1.27;-1.27	5.73	5.73	0.89815	NACHT nucleoside triphosphatase (1);	0.161017	0.42053	D	0.000778	D	0.84361	0.5455	M	0.71036	2.16	0.80722	D	1	D;P;D	0.56968	0.972;0.932;0.978	P;P;P	0.57911	0.737;0.52;0.829	D	0.85003	0.0901	10	0.48119	T	0.1	-13.333	13.5466	0.61707	1.0:0.0:0.0:0.0	.	1132;590;1240	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	A	1240;1240;1132	ENSP00000262715:V1240A;ENSP00000452574:V1132A	ENSP00000262715:V1240A	V	-	2	0	TEP1	19921635	0.990000	0.36364	0.999000	0.59377	0.762000	0.43233	5.549000	0.67261	2.172000	0.68678	0.533000	0.62120	GTG		0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
TRIO	7204	hgsc.bcm.edu	37	5	14374353	14374353	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr5:14374353C>G	ENST00000344204.4	+	19	3256	c.3232C>G	c.(3232-3234)Cgg>Ggg	p.R1078G	TRIO_ENST00000509967.2_Missense_Mutation_p.R1029G|TRIO_ENST00000537187.1_Missense_Mutation_p.R1078G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1078					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1078G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACCCTTGCTCGGAGGAATGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											108.0	95.0	100.0					5																	14374353		2203	4300	6503	14427353	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3232C>G	5.37:g.14374353C>G	ENSP00000339299:p.Arg1078Gly		14427353	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210471	0.39102	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.40756	1.02;1.02;1.02	5.67	0.495	0.16890	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.79926	2.475	0.50171	D	0.999856	D;D;D	0.76494	0.999;0.994;0.997	D;D;D	0.87578	0.998;0.963;0.987	T	0.70641	-0.4816	10	0.51188	T	0.08	.	17.3132	0.87215	0.3417:0.6583:0.0:0.0	.	1029;1078;1078	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	G	1078;1078;1029;765	ENSP00000339299:R1078G;ENSP00000446348:R1078G;ENSP00000445592:R1029G	ENSP00000339299:R1078G	R	+	1	2	TRIO	14427353	0.011000	0.17503	0.811000	0.32455	0.859000	0.49053	0.290000	0.18975	0.064000	0.16427	-0.274000	0.10170	CGG		0.453	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
TTN	7273	hgsc.bcm.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr2:179440550C>A	ENST00000591111.1	-	276	65610	c.65386G>T	c.(65386-65388)Ggc>Tgc	p.G21796C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437C|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869C|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497C|TTN_ENST00000460472.2_Missense_Mutation_p.G14372C|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21796				PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	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)	p.G14372C(1)|p.G20867C(1)		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)			AGGACTGGGCCTGGCGTGTCC	0.493																																																2	Substitution - Missense(2)	ovary(2)	2											94.0	101.0	98.0					2																	179440550		2103	4242	6345	179148796	SO:0001583	missense	7273			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.65386G>T	2.37:g.179440550C>A	ENSP00000465570:p.Gly21796Cys		179148796	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	14.17	2.456581	0.43634	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83562	0.5281	H	0.97240	3.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89028	0.3440	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	20869;14372;14564;14497;14370	ENSP00000343764:G20869C;ENSP00000434586:G14372C;ENSP00000340554:G14564C;ENSP00000352154:G14497C	ENSP00000340554:G14564C	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NUTM1	256646	hgsc.bcm.edu	37	15	34648451	34648451	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr15:34648451C>A	ENST00000333756.4	+	7	2313	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T	NUTM1_ENST00000438749.3_Missense_Mutation_p.P738T|NUTM1_ENST00000537011.1_Missense_Mutation_p.P748T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	720						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P720T(1)									CTGTCTCAGCCCAGGAGTTTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											59.0	57.0	58.0					15																	34648451		2201	4298	6499	32435743	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2158C>A	15.37:g.34648451C>A	ENSP00000329448:p.Pro720Thr		32435743	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513712	0.27123	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.10573	2.87;2.86;2.87	5.21	4.23	0.50019	.	0.523844	0.17737	N	0.163705	T	0.12263	0.0298	L	0.42245	1.32	0.23751	N	0.996947	P;P;P	0.43826	0.723;0.818;0.723	B;P;B	0.44990	0.276;0.466;0.276	T	0.10154	-1.0642	10	0.66056	D	0.02	.	7.8619	0.29514	0.0:0.887:0.0:0.113	.	738;748;720	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	748;738;720	ENSP00000444896:P748T;ENSP00000407031:P738T;ENSP00000329448:P720T	ENSP00000329448:P720T	P	+	1	0	C15orf55	32435743	0.977000	0.34250	0.467000	0.27180	0.353000	0.29299	1.960000	0.40422	2.715000	0.92844	0.655000	0.94253	CCA		0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
CNKSR3	154043	hgsc.bcm.edu	37	6	154727785	154727785	+	Splice_Site	SNP	C	C	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:154727785C>T	ENST00000607772.1	-	13	1915	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G	CNKSR3_ENST00000479339.1_Splice_Site_p.G377G|CNKSR3_ENST00000433165.2_Splice_Site_p.G282G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	457	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G457G(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGGCATCCTCCCCTGTTTCCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6											32.0	31.0	32.0					6																	154727785		2203	4300	6503	154769477	SO:0001630	splice_region_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1370-1G>A	6.37:g.154727785C>T			154769477	Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	37	CCDS5246.1																																																																																				0.567	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	Silent
EGR2	1959	hgsc.bcm.edu	37	10	64575657	64575657	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr10:64575657C>G	ENST00000242480.3	-	1	458	c.133G>C	c.(133-135)Gga>Cga	p.G45R	EGR2_ENST00000439032.1_Missense_Mutation_p.G45R|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000493899.2_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	45					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.G45R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGGGGCCTCCCAGTTCGGCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											97.0	93.0	95.0					10																	64575657		2203	4300	6503	64245663	SO:0001583	missense	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.133G>C	10.37:g.64575657C>G	ENSP00000242480:p.Gly45Arg		64245663	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039423	0.75617	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000432380	T;T	0.17370	2.28;2.28	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.09228	-1.0684	10	0.87932	D	0	-5.9044	16.7007	0.85349	0.0:1.0:0.0:0.0	.	45	P11161	EGR2_HUMAN	R	45;45;58	ENSP00000242480:G45R;ENSP00000402040:G45R	ENSP00000242480:G45R	G	-	1	0	EGR2	64245663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.749000	0.55150	2.548000	0.85928	0.556000	0.70494	GGA		0.627	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
NDST4	64579	hgsc.bcm.edu	37	4	115997244	115997244	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr4:115997244C>G	ENST00000264363.2	-	2	1627	c.949G>C	c.(949-951)Gga>Cga	p.G317R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	317	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G317R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCCTTGTTCCCTCTTTCCCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											101.0	89.0	93.0					4																	115997244		2203	4300	6503	116216693	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.949G>C	4.37:g.115997244C>G	ENSP00000264363:p.Gly317Arg		116216693	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217986	0.79352	.	.	ENSG00000138653	ENST00000264363	T	0.48201	0.82	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.91717	3.235	0.80722	D	1	P	0.42357	0.777	P	0.57548	0.823	T	0.78940	-0.2006	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	317	Q9H3R1	NDST4_HUMAN	R	317	ENSP00000264363:G317R	ENSP00000264363:G317R	G	-	1	0	NDST4	116216693	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.770000	0.85390	2.727000	0.93392	0.591000	0.81541	GGA		0.368	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
NF2	4771	hgsc.bcm.edu	37	22	30057257	30057257	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr22:30057257G>A	ENST00000338641.4	+	8	1180	c.739G>A	c.(739-741)Gag>Aag	p.E247K	NF2_ENST00000361166.4_Missense_Mutation_p.E247K|NF2_ENST00000353887.4_Missense_Mutation_p.E164K|NF2_ENST00000347330.5_Missense_Mutation_p.E88K|NF2_ENST00000403999.3_Missense_Mutation_p.E247K|NF2_ENST00000397789.3_Missense_Mutation_p.E247K|NF2_ENST00000334961.7_Missense_Mutation_p.E164K|NF2_ENST00000361676.4_Missense_Mutation_p.E205K|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E247K|NF2_ENST00000361452.4_Missense_Mutation_p.E206K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L232_P257del(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTATGACCCTGAGAACAGACT	0.502			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Unknown(3)|Deletion - In frame(2)|Substitution - Missense(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	soft_tissue(4)|ovary(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	22											118.0	113.0	115.0					22																	30057257		2203	4300	6503	28387257	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.739G>A	22.37:g.30057257G>A	ENSP00000344666:p.Glu247Lys		28387257	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102197	0.76983	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.81	5.81	0.92471	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.245390	0.47093	D	0.000249	T	0.79857	0.4518	N	0.17723	0.515	0.53688	D	0.999971	B;B;B;B;B;B	0.32526	0.123;0.098;0.18;0.374;0.305;0.145	B;B;B;B;B;B	0.29862	0.062;0.078;0.076;0.108;0.051;0.026	T	0.75827	-0.3180	9	.	.	.	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	206;247;247;205;164;247	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	K	88;247;247;206;247;247;164;164;247;205;247	ENSP00000335160:E88K;ENSP00000344666:E247K;ENSP00000384029:E247K;ENSP00000354897:E206K;ENSP00000384797:E247K;ENSP00000335652:E164K;ENSP00000340626:E164K;ENSP00000380891:E247K;ENSP00000355183:E205K;ENSP00000354529:E247K	.	E	+	1	0	NF2	28387257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.913000	0.63341	2.747000	0.94245	0.650000	0.86243	GAG		0.502	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
PGM2	55276	hgsc.bcm.edu	37	4	37851851	37851851	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr4:37851851C>G	ENST00000381967.4	+	12	1559	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	PGM2_ENST00000537241.1_Missense_Mutation_p.Q327E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	487					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.Q487E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTGCCATGATCAAGAAACCAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											51.0	54.0	53.0					4																	37851851		2203	4300	6503	37528246	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1459C>G	4.37:g.37851851C>G	ENSP00000371393:p.Gln487Glu		37528246	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821641	0.50633	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.28895	1.59;1.59	5.53	5.53	0.82687	.	0.164709	0.56097	D	0.000033	T	0.38692	0.1050	M	0.71296	2.17	0.58432	D	0.999998	B	0.22480	0.07	B	0.21708	0.036	T	0.16335	-1.0406	10	0.39692	T	0.17	-11.5949	19.4755	0.94985	0.0:1.0:0.0:0.0	.	487	Q96G03	PGM2_HUMAN	E	487;327	ENSP00000371393:Q487E;ENSP00000437342:Q327E	ENSP00000371393:Q487E	Q	+	1	0	PGM2	37528246	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	5.956000	0.70315	2.605000	0.88082	0.650000	0.86243	CAA		0.318	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
ZNF582	147948	hgsc.bcm.edu	37	19	56895712	56895712	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr19:56895712C>G	ENST00000301310.4	-	5	1232	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q358H	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q358H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATGAATTCTCTGATGTCGTA	0.418																																					Ovarian(183;1887 2032 4349 30507 51343)											1	Substitution - Missense(1)	ovary(1)	19											89.0	90.0	89.0					19																	56895712		2203	4300	6503	61587524	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1074G>C	19.37:g.56895712C>G	ENSP00000301310:p.Gln358His		61587524	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364181	0.24684	.	.	ENSG00000018869	ENST00000301310	T	0.07567	3.18	4.49	-3.3	0.05003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33610	N	0.004722	T	0.05960	0.0155	L	0.50919	1.6	0.23946	N	0.996389	P;P	0.47484	0.553;0.896	B;B	0.41510	0.304;0.359	T	0.22034	-1.0228	10	0.52906	T	0.07	.	1.9017	0.03269	0.1265:0.3489:0.1239:0.4007	.	358;389	Q96NG8;B4DQZ9	ZN582_HUMAN;.	H	358	ENSP00000301310:Q358H	ENSP00000301310:Q358H	Q	-	3	2	ZNF582	61587524	0.000000	0.05858	0.438000	0.26821	0.024000	0.10985	0.696000	0.25541	-0.558000	0.06118	-0.895000	0.02911	CAG		0.418	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
