#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
ABCA1	19	hgsc.bcm.edu	37	9	107560700	107560700	+	Splice_Site	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr9:107560700A>G	ENST00000374736.3	-	37	5516		c.e37+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGTGTCCTTACCATATCCCA	0.468																																																1	Unknown(1)	ovary(1)	9											108.0	102.0	104.0					9																	107560700		2203	4300	6503	106600521	SO:0001630	splice_region_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5121+1T>C	9.37:g.107560700A>G			106600521	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700898	0.88924	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8216	0.78654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA1	106600521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.231000	0.95317	2.199000	0.70637	0.533000	0.62120	.		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron
CYP2C18	1562	hgsc.bcm.edu	37	10	96447894	96447894	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr10:96447894G>C	ENST00000285979.6	+	3	543	c.344G>C	c.(343-345)aGc>aCc	p.S115T	CYP2C18_ENST00000339022.5_Missense_Mutation_p.S115T	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	115					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.S115T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ATCCTTTTCAGCAATGGAAAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											94.0	84.0	87.0					10																	96447894		2203	4300	6503	96437884	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.344G>C	10.37:g.96447894G>C	ENSP00000285979:p.Ser115Thr		96437884	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332841	0.41297	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69685	-0.42;-0.42	4.54	4.54	0.55810	.	0.000000	0.85682	U	0.000000	T	0.69584	0.3127	M	0.71036	2.16	0.20307	N	0.999915	B;B	0.32543	0.153;0.375	B;B	0.38755	0.095;0.281	T	0.67118	-0.5751	10	0.59425	D	0.04	.	14.7821	0.69774	0.0:0.0:1.0:0.0	.	115;115	Q4VAT5;P33260	.;CP2CI_HUMAN	T	115	ENSP00000341293:S115T;ENSP00000285979:S115T	ENSP00000285979:S115T	S	+	2	0	CYP2C18	96437884	0.987000	0.35691	0.994000	0.49952	0.527000	0.34593	1.383000	0.34385	2.061000	0.61500	0.306000	0.20318	AGC		0.507	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
DST	667	hgsc.bcm.edu	37	6	56470785	56470785	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:56470785C>A	ENST00000361203.3	-	36	8015	c.8008G>T	c.(8008-8010)Gca>Tca	p.A2670S	DST_ENST00000446842.2_Missense_Mutation_p.A2344S|DST_ENST00000312431.6_Missense_Mutation_p.A2670S|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A2670S|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.A2848S			Q03001	DYST_HUMAN	dystonin	2670					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A2670S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAGGTGATGCTAGCTGTACA	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											132.0	124.0	126.0					6																	56470785		1829	4083	5912	56578744	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8008G>T	6.37:g.56470785C>A	ENSP00000354508:p.Ala2670Ser		56578744	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	7.041	0.562534	0.13498	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80653	0.08;0.09;1.03;-1.4;0.07;-0.19	5.39	1.5	0.22942	.	0.814855	0.10729	N	0.640889	T	0.52370	0.1730	.	.	.	0.21967	N	0.999444	B	0.10296	0.003	B	0.01281	0.0	T	0.27872	-1.0061	8	0.48119	T	0.1	.	6.5124	0.22228	0.0:0.5294:0.3084:0.1621	.	2344	Q03001-9	.	S	2848;2670;2344;2670;2670;2344	ENSP00000359790:A2848S;ENSP00000359805:A2670S;ENSP00000393645:A2344S;ENSP00000307959:A2670S;ENSP00000354508:A2670S;ENSP00000404924:A2344S	ENSP00000307959:A2670S	A	-	1	0	DST	56578744	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.056000	0.14256	0.317000	0.23160	0.400000	0.26472	GCA		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
EIF2B5	8893	hgsc.bcm.edu	37	3	183860379	183860379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:183860379C>T	ENST00000273783.3	+	10	1656	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.Q512*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	512					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.Q512*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGAACTGCAGCAGAATCTGTG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	3											47.0	49.0	48.0					3																	183860379		2203	4300	6503	185343073	SO:0001587	stop_gained	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1534C>T	3.37:g.183860379C>T	ENSP00000273783:p.Gln512*		185343073	Q541Z1|Q96D04	Nonsense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	35	5.485501	0.96323	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	.	.	.	5.73	5.73	0.89815	.	0.242207	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	14.705	0.69183	0.145:0.855:0.0:0.0	.	.	.	.	X	512;512;268	.	ENSP00000273783:Q512X	Q	+	1	0	EIF2B5	185343073	1.000000	0.71417	0.991000	0.47740	0.239000	0.25481	4.339000	0.59322	2.711000	0.92665	0.561000	0.74099	CAG		0.488	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		
ENPEP	2028	hgsc.bcm.edu	37	4	111434637	111434637	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:111434637C>G	ENST00000265162.5	+	7	1717	c.1375C>G	c.(1375-1377)Cca>Gca	p.P459A	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	459					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P459A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTCTTCGCATCCAATTATTGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											187.0	172.0	177.0					4																	111434637		2203	4300	6503	111654086	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1375C>G	4.37:g.111434637C>G	ENSP00000265162:p.Pro459Ala		111654086	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.80|19.80	3.895519|3.895519	0.72639|0.72639	.|.	.|.	ENSG00000250511|ENSG00000138792	ENST00000503998|ENST00000265162	.|T	.|0.07688	.|3.17	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30572|0.30572	0.0769|0.0769	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69479	.|0.964	T|T	0.01178|0.01178	-1.1427|-1.1427	5|10	.|0.59425	.|D	.|0.04	.|.	19.2999|19.2999	0.94140|0.94140	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|459	.|Q07075	.|AMPE_HUMAN	A|A	110|459	.|ENSP00000265162:P459A	.|ENSP00000265162:P459A	G|P	-|+	2|1	0|0	RP11-380D23.1|ENPEP	111654086|111654086	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.344000|0.344000	0.29017|0.29017	7.445000|7.445000	0.80570|0.80570	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GGA|CCA		0.358	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
FAT4	79633	hgsc.bcm.edu	37	4	126336552	126336552	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:126336552T>A	ENST00000394329.3	+	5	6447	c.6434T>A	c.(6433-6435)cTt>cAt	p.L2145H	FAT4_ENST00000335110.5_Missense_Mutation_p.L443H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2145	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2145H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTATGGTACTTGACATCAAT	0.378																																																2	Substitution - Missense(2)	ovary(2)	4											88.0	83.0	85.0					4																	126336552		2203	4300	6503	126556002	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6434T>A	4.37:g.126336552T>A	ENSP00000377862:p.Leu2145His		126556002	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662961	0.47572	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01821	4.62;4.62	5.42	5.42	0.78866	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31415	U	0.007695	T	0.13884	0.0336	M	0.90309	3.105	0.51767	D	0.999932	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.00738	-1.1587	10	0.56958	D	0.05	.	15.472	0.75446	0.0:0.0:0.0:1.0	.	443;2145	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	2145;443	ENSP00000377862:L2145H;ENSP00000335169:L443H	ENSP00000335169:L443H	L	+	2	0	FAT4	126556002	0.998000	0.40836	0.935000	0.37517	0.486000	0.33341	6.034000	0.70933	2.054000	0.61138	0.455000	0.32223	CTT		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
ITK	3702	hgsc.bcm.edu	37	5	156675970	156675970	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr5:156675970C>G	ENST00000422843.3	+	16	1896	c.1744C>G	c.(1744-1746)Ctg>Gtg	p.L582V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L582V(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAAGCCCCGGCTGGCCTCCAC	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											114.0	96.0	102.0					5																	156675970		2203	4300	6503	156608548	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1744C>G	5.37:g.156675970C>G	ENSP00000398655:p.Leu582Val		156608548	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370545	0.42003	.	.	ENSG00000113263	ENST00000422843	D	0.82711	-1.64	5.71	3.01	0.34805	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.78735	0.4330	L	0.50847	1.595	0.40495	D	0.980585	P	0.44344	0.833	P	0.45829	0.494	T	0.77094	-0.2715	10	0.66056	D	0.02	.	5.5737	0.17210	0.1295:0.5987:0.0:0.2718	.	582	Q08881	ITK_HUMAN	V	582	ENSP00000398655:L582V	ENSP00000398655:L582V	L	+	1	2	ITK	156608548	0.002000	0.14202	0.663000	0.29738	0.855000	0.48748	0.017000	0.13399	0.796000	0.33947	0.650000	0.86243	CTG		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
LAMA2	3908	hgsc.bcm.edu	37	6	129636953	129636953	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:129636953C>T	ENST00000421865.2	+	26	3831	c.3782C>T	c.(3781-3783)gCt>gTt	p.A1261V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1261	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A1261V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTCGAGGCTCGGGAAGAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											111.0	112.0	112.0					6																	129636953		2203	4300	6503	129678646	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3782C>T	6.37:g.129636953C>T	ENSP00000400365:p.Ala1261Val		129678646	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116396	0.94385	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35789	1.29	5.55	5.55	0.83447	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.41395	-0.9511	10	0.51188	T	0.08	.	19.8741	0.96863	0.0:1.0:0.0:0.0	.	1261;1261	A6NF00;P24043	.;LAMA2_HUMAN	V	1261	ENSP00000400365:A1261V	ENSP00000346769:A1261V	A	+	2	0	LAMA2	129678646	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.442000	0.80503	2.761000	0.94854	0.655000	0.94253	GCT		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
NLRP5	126206	hgsc.bcm.edu	37	19	56515122	56515122	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:56515122C>T	ENST00000390649.3	+	2	103	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	35					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)	p.P35S(1)		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)		CTCTATATTACCAAAGAATCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											115.0	109.0	111.0					19																	56515122		1848	4100	5948	61206934	SO:0001583	missense	126206			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.103C>T	19.37:g.56515122C>T	ENSP00000375063:p.Pro35Ser		61206934	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609964	0.14066	.	.	ENSG00000171487	ENST00000390649	T	0.73363	-0.74	3.15	-0.332	0.12675	.	.	.	.	.	T	0.47340	0.1440	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.23018	0.043	T	0.39482	-0.9612	9	0.87932	D	0	.	3.505	0.07686	0.0:0.5341:0.2138:0.2521	.	35	P59047	NALP5_HUMAN	S	35	ENSP00000375063:P35S	ENSP00000375063:P35S	P	+	1	0	NLRP5	61206934	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.119000	0.10676	0.038000	0.15604	-0.311000	0.09066	CCA		0.438	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
PLG	5340	hgsc.bcm.edu	37	6	161143590	161143590	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:161143590A>T	ENST00000308192.9	+	10	1310	c.1247A>T	c.(1246-1248)tAc>tTc	p.Y416F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	416	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y416F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGAAAACTACCCAAATGCG	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											118.0	117.0	117.0					6																	161143590		2203	4300	6503	161063580	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1247A>T	6.37:g.161143590A>T	ENSP00000308938:p.Tyr416Phe		161063580	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	0.359	-0.940423	0.02322	.	.	ENSG00000122194	ENST00000308192	T	0.61980	0.06	5.18	-10.4	0.00318	Kringle (4);Kringle-like fold (1);	0.655352	0.12050	N	0.504223	T	0.13114	0.0318	N	0.25060	0.705	0.19300	N	0.999976	B	0.02656	0.0	B	0.12156	0.007	T	0.09271	-1.0682	10	0.07813	T	0.8	.	11.8293	0.52285	0.6792:0.0574:0.0:0.2635	.	416	P00747	PLMN_HUMAN	F	416	ENSP00000308938:Y416F	ENSP00000308938:Y416F	Y	+	2	0	PLG	161063580	0.015000	0.18098	0.303000	0.25071	0.310000	0.27922	-0.710000	0.05024	-4.123000	0.00071	-0.527000	0.04329	TAC		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
RFC4	5984	hgsc.bcm.edu	37	3	186522459	186522459	+	Missense_Mutation	SNP	G	G	A	rs146612878		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:186522459G>A	ENST00000392481.2	-	2	325	c.44C>T	c.(43-45)cCg>cTg	p.P15L	RFC4_ENST00000433496.1_Missense_Mutation_p.P15L|RFC4_ENST00000296273.2_Missense_Mutation_p.P15L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	15					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.P15L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTGGTCAGCGGGGGTTTAGT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3						G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	150.0	135.0	140.0		44,44	3.5	0.0	3	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFC4	NM_002916.3,NM_181573.2	98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	15/364,15/364	186522459	2,13004	2203	4300	6503	188005153	SO:0001583	missense	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.44C>T	3.37:g.186522459G>A	ENSP00000376272:p.Pro15Leu		188005153	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	0.831	-0.745194	0.03065	2.27E-4	1.16E-4	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497;ENST00000411792	T;T;T;T;T;T;T	0.41758	2.31;2.3;2.3;0.99;1.03;1.02;1.02	5.4	3.53	0.40419	.	0.332861	0.31697	N	0.007208	T	0.29458	0.0734	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17319	-1.0373	10	0.30078	T	0.28	3.0699	9.1548	0.36985	0.0841:0.0:0.7665:0.1493	.	15;15	B4DM41;P35249	.;RFC4_HUMAN	L	15	ENSP00000399769:P15L;ENSP00000376272:P15L;ENSP00000296273:P15L;ENSP00000411300:P15L;ENSP00000413065:P15L;ENSP00000407982:P15L;ENSP00000415099:P15L	ENSP00000296273:P15L	P	-	2	0	RFC4	188005153	0.010000	0.17322	0.006000	0.13384	0.025000	0.11179	1.246000	0.32803	0.232000	0.21100	-1.119000	0.02030	CCG		0.453	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	
ST8SIA1	6489	hgsc.bcm.edu	37	12	22440220	22440220	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr12:22440220T>C	ENST00000396037.4	-	2	725	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	82					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.M82V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTCTTCCATTTGTTTCCTA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											64.0	66.0	65.0					12																	22440220		2203	4300	6503	22331487	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.244A>G	12.37:g.22440220T>C	ENSP00000379353:p.Met82Val		22331487	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040244	0.35989	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T	0.63255	-0.03;-0.03	5.59	3.12	0.35913	.	0.170707	0.56097	D	0.000040	T	0.45696	0.1355	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.25187	-1.0139	9	.	.	.	-24.4976	6.3192	0.21208	0.0:0.0882:0.2725:0.6393	.	82	Q92185	SIA8A_HUMAN	V	82;33;59	ENSP00000379353:M82V;ENSP00000440292:M59V	.	M	-	1	0	ST8SIA1	22331487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.499000	0.53310	0.962000	0.38057	0.533000	0.62120	ATG		0.438	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034	
ZNF615	284370	hgsc.bcm.edu	37	19	52496182	52496182	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:52496182G>C	ENST00000602063.1	-	6	2496	c.2147C>G	c.(2146-2148)gCt>gGt	p.A716G	ZNF615_ENST00000376716.5_Missense_Mutation_p.A716G|ZNF615_ENST00000391795.3_Missense_Mutation_p.A721G|ZNF615_ENST00000594083.1_Missense_Mutation_p.A727G|ZNF615_ENST00000598071.1_Missense_Mutation_p.A727G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A727G(1)|p.A716G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGCGCAAAAGCTTTCCCACA	0.438																																																2	Substitution - Missense(2)	ovary(2)	19											176.0	178.0	177.0					19																	52496182		2203	4300	6503	57187994	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2147C>G	19.37:g.52496182G>C	ENSP00000473089:p.Ala716Gly		57187994	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755618	0.15846	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.13901	2.55;2.55	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.03917	-0.325	0.09310	N	0.999999	B;B;B;B	0.31413	0.322;0.275;0.275;0.322	B;B;B;B	0.38056	0.264;0.172;0.172;0.264	T	0.37798	-0.9690	9	0.34782	T	0.22	.	9.7056	0.40214	0.0:0.2137:0.7863:0.0	.	721;723;727;716	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	G	716;726;721;670	ENSP00000365906:A716G;ENSP00000375672:A721G	ENSP00000347019:A726G	A	-	2	0	ZNF615	57187994	0.000000	0.05858	0.665000	0.29768	0.947000	0.59692	-0.965000	0.03829	1.705000	0.51264	0.655000	0.94253	GCT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF468	90333	hgsc.bcm.edu	37	19	53345297	53345297	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:53345297C>G	ENST00000595646.1	-	4	370	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	ZNF468_ENST00000243639.4_Missense_Mutation_p.R123T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.E31Q|ZNF468_ENST00000396409.4_Missense_Mutation_p.E31Q			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	84					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.E84Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAACAAAATTCTCCAATGTGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											157.0	147.0	150.0					19																	53345297		2203	4300	6503	58037109	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.250G>C	19.37:g.53345297C>G	ENSP00000470381:p.Glu84Gln		58037109	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	c	8.201	0.798134	0.16397	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06849	3.25;3.25	1.2	1.2	0.21068	.	.	.	.	.	T	0.07234	0.0183	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.31280	-0.9949	9	0.52906	T	0.07	.	8.2654	0.31810	0.0:1.0:0.0:0.0	.	84	Q5VIY5	ZN468_HUMAN	Q	84;31;31	ENSP00000379690:E31Q;ENSP00000445669:E31Q	ENSP00000243639:E84Q	E	-	1	0	ZNF468	58037109	0.000000	0.05858	0.010000	0.14722	0.155000	0.21991	-0.366000	0.07563	0.949000	0.37715	0.174000	0.16983	GAA		0.423	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
ZNF665	79788	hgsc.bcm.edu	37	19	53669576	53669576	+	De_novo_Start_InFrame	SNP	G	G	A	rs371699472		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:53669576G>A	ENST00000600412.1	-	0	87				ZNF665_ENST00000396424.3_Missense_Mutation_p.T56M|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T56M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGGCAAATCCGTGTTTACACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	19						G	MET/THR	0,3806		0,0,1903	192.0	190.0	190.0		167	1.5	0.0	19		190	1,8235		0,1,4117	no	missense	ZNF665	NM_024733.3	81	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	benign	56/679	53669576	1,12041	1903	4118	6021	58361388			79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5			19.37:g.53669576G>A			58361388	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	10.96	1.498210	0.26861	0.0	1.21E-4	ENSG00000197497	ENST00000396424	T	0.05382	3.45	2.55	1.51	0.23008	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.44732	0.459	T	0.34153	-0.9840	8	0.48119	T	0.1	.	6.7275	0.23365	0.0:0.0:0.2435:0.7565	.	56	Q9H7R5-2	.	M	56	ENSP00000379702:T56M	ENSP00000379702:T56M	T	-	2	0	ZNF665	58361388	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	1.916000	0.39986	0.219000	0.20840	-0.426000	0.05927	ACG		0.383	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ANKRD17	26057	hgsc.bcm.edu	37	4	73951077	73951077	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:73951077G>C	ENST00000358602.4	-	30	7164	c.7048C>G	c.(7048-7050)Cag>Gag	p.Q2350E	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2099E|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2237E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2350					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q2350E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCGTACATCTGACCTCCTGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											124.0	127.0	126.0					4																	73951077		2203	4300	6503	74169941	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7048C>G	4.37:g.73951077G>C	ENSP00000351416:p.Gln2350Glu		74169941	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323419	0.60634	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.66815	-0.23;-0.19;-0.17	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.61924	0.2386	L	0.34521	1.04	0.34691	D	0.725761	B;B;B;B	0.27656	0.108;0.184;0.066;0.038	B;B;B;B	0.29176	0.069;0.099;0.032;0.021	T	0.67023	-0.5775	10	0.62326	D	0.03	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	2349;2099;2350;2237	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	E	2350;1757;2099;2237;734	ENSP00000351416:Q2350E;ENSP00000332265:Q2099E;ENSP00000427151:Q2237E	ENSP00000332265:Q2099E	Q	-	1	0	ANKRD17	74169941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.103000	0.77014	2.906000	0.99361	0.655000	0.94253	CAG		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
APITD1	378708	hgsc.bcm.edu	37	1	10493919	10493919	+	Missense_Mutation	SNP	C	C	G	rs540291030		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr1:10493919C>G	ENST00000309048.3	+	2	147	c.72C>G	c.(70-72)caC>caG	p.H24Q	APITD1_ENST00000602296.1_Missense_Mutation_p.H24Q|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.H24Q|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.H24Q|APITD1_ENST00000602787.1_Missense_Mutation_p.H24Q|APITD1_ENST00000462462.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	24					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H24Q(1)		kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CAGCAGTTCACTATACTGTGG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21469	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	1											136.0	130.0	132.0					1																	10493919		2203	4300	6503	10416506	SO:0001583	missense	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.72C>G	1.37:g.10493919C>G	ENSP00000308583:p.His24Gln		10416506	Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	CCDS115.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305701	0.60305	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	5.8	3.95	0.45737	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.73962	2.25	0.38468	D	0.947408	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.69273	-0.5188	9	0.20519	T	0.43	-16.4066	9.6651	0.39979	0.0:0.7765:0.0:0.2235	.	24;24	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	Q	24	.	ENSP00000383692:H24Q	H	+	3	2	APITD1-CORT;APITD1	10416506	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.024000	0.41049	0.815000	0.34398	-0.123000	0.14984	CAC		0.448	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294	
CDH2	1000	hgsc.bcm.edu	37	18	25563003	25563003	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr18:25563003C>G	ENST00000269141.3	-	14	2677	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E721Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	752					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.E752Q(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCTGGCGTTCTTTATCCCGG	0.363																																																1	Substitution - Missense(1)	ovary(1)	18											124.0	123.0	123.0					18																	25563003		2203	4300	6503	23817001	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2254G>C	18.37:g.25563003C>G	ENSP00000269141:p.Glu752Gln		23817001	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069501	0.93950	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.76060	-0.99;-0.99	5.82	5.82	0.92795	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85471	0.1173	10	0.62326	D	0.03	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	721;752	A8MWK3;P19022	.;CADH2_HUMAN	Q	752;721	ENSP00000269141:E752Q;ENSP00000382312:E721Q	ENSP00000269141:E752Q	E	-	1	0	CDH2	23817001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.752000	0.94435	0.655000	0.94253	GAA		0.363	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CENPE	1062	hgsc.bcm.edu	37	4	104068670	104068670	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:104068670A>G	ENST00000265148.3	-	29	4066	c.3977T>C	c.(3976-3978)aTa>aCa	p.I1326T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1301T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.I1326T(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCCATTTCTATTCTTGCCAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											194.0	180.0	185.0					4																	104068670		2203	4300	6503	104288119	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3977T>C	4.37:g.104068670A>G	ENSP00000265148:p.Ile1326Thr		104288119	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468847	0.43839	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70045	-0.45;-0.45	5.02	1.04	0.20106	.	.	.	.	.	T	0.54255	0.1847	L	0.58101	1.795	0.21064	N	0.999798	B;B	0.23540	0.002;0.087	B;B	0.15052	0.003;0.012	T	0.38950	-0.9637	9	0.25751	T	0.34	.	3.5253	0.07757	0.6528:0.0:0.184:0.1632	.	1301;1326	Q02224-3;Q02224	.;CENPE_HUMAN	T	1326;1326;1301	ENSP00000265148:I1326T;ENSP00000369365:I1301T	ENSP00000265148:I1326T	I	-	2	0	CENPE	104288119	0.001000	0.12720	0.100000	0.21137	0.961000	0.63080	0.107000	0.15375	-0.044000	0.13491	0.477000	0.44152	ATA		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
DSG4	147409	hgsc.bcm.edu	37	18	28956906	28956906	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr18:28956906T>C	ENST00000308128.4	+	1	167	c.32T>C	c.(31-33)cTt>cCt	p.L11P	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L11P	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	11					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L11P(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACATTTGCCTTTTGATCATT	0.428																																																1	Substitution - Missense(1)	ovary(1)	18											109.0	93.0	98.0					18																	28956906		2203	4300	6503	27210904	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.32T>C	18.37:g.28956906T>C	ENSP00000311859:p.Leu11Pro		27210904	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628232	0.28978	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61980	0.13;0.06	5.99	4.83	0.62350	.	0.000000	0.29806	N	0.011147	T	0.67599	0.2910	L	0.59436	1.845	0.27749	N	0.9442	D;B	0.58620	0.983;0.015	P;B	0.56823	0.807;0.043	T	0.60954	-0.7160	10	0.33141	T	0.24	.	8.958	0.35829	0.0:0.0833:0.0:0.9167	.	11;11	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	P	11	ENSP00000311859:L11P;ENSP00000352785:L11P	ENSP00000311859:L11P	L	+	2	0	DSG4	27210904	0.690000	0.27699	0.726000	0.30738	0.475000	0.33008	2.974000	0.49272	1.086000	0.41228	0.533000	0.62120	CTT		0.428	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
EPHA3	2042	hgsc.bcm.edu	37	3	89259341	89259341	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:89259341T>A	ENST00000336596.2	+	3	710	c.485T>A	c.(484-486)cTg>cAg	p.L162Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.L162Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.L162Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	162	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L162Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACCGTATTCTGAAGCTCAAC	0.423										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	ovary(1)	3											153.0	135.0	141.0					3																	89259341		2203	4300	6503	89342031	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.485T>A	3.37:g.89259341T>A	ENSP00000337451:p.Leu162Gln		89342031	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117451	0.77323	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.10573	2.86;2.86;2.86	5.7	5.7	0.88788	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.87578	0.998;0.865	T	0.00706	-1.1601	9	.	.	.	.	15.9692	0.79998	0.0:0.0:0.0:1.0	.	162;162	P29320;P29320-2	EPHA3_HUMAN;.	Q	162	ENSP00000337451:L162Q;ENSP00000399926:L162Q;ENSP00000419190:L162Q	.	L	+	2	0	EPHA3	89342031	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	8.040000	0.89188	2.162000	0.67917	0.528000	0.53228	CTG		0.423	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
UNC79	57578	hgsc.bcm.edu	37	14	94089039	94089039	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr14:94089039A>T	ENST00000393151.2	+	30	5460	c.5460A>T	c.(5458-5460)gaA>gaT	p.E1820D	UNC79_ENST00000553484.1_Missense_Mutation_p.E1842D|UNC79_ENST00000256339.4_Missense_Mutation_p.E1643D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1820D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1820					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1643D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAAGGTGGAAGAGGATGGAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	14											68.0	62.0	64.0					14																	94089039		2203	4300	6503	93158792	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5460A>T	14.37:g.94089039A>T	ENSP00000376858:p.Glu1820Asp		93158792	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	11.85	1.761422	0.31228	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19938	2.13;2.11;2.13;2.12	5.57	-2.46	0.06461	.	0.311242	0.33309	N	0.005048	T	0.16471	0.0396	L	0.27053	0.805	0.33008	D	0.527102	B	0.30605	0.287	B	0.38500	0.275	T	0.12502	-1.0545	10	0.45353	T	0.12	-6.1357	13.1497	0.59482	0.3789:0.0:0.6211:0.0	.	1842	C9JQL1	.	D	1643;1820;1842;1820;1842	ENSP00000256339:E1643D;ENSP00000450868:E1820D;ENSP00000451360:E1842D;ENSP00000376858:E1820D	ENSP00000256339:E1643D	E	+	3	2	KIAA1409	93158792	0.972000	0.33761	0.120000	0.21714	0.860000	0.49131	0.191000	0.17076	-0.688000	0.05155	0.397000	0.26171	GAA		0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
LCT	3938	hgsc.bcm.edu	37	2	136566475	136566475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr2:136566475G>A	ENST00000264162.2	-	8	3452	c.3442C>T	c.(3442-3444)Cag>Tag	p.Q1148*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1148	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.Q1148*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGGGAGAACTGCAGCATTCGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	2											72.0	74.0	73.0					2																	136566475		2203	4300	6503	136282945	SO:0001587	stop_gained	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3442C>T	2.37:g.136566475G>A	ENSP00000264162:p.Gln1148*		136282945	Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	37	6.609877	0.97701	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.66	5.66	0.87406	.	0.156603	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.853	19.7554	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	X	1148;580	.	ENSP00000264162:Q1148X	Q	-	1	0	LCT	136282945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.017000	0.88712	2.665000	0.90641	0.563000	0.77884	CAG		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LTF	4057	hgsc.bcm.edu	37	3	46497428	46497428	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:46497428C>G	ENST00000231751.4	-	4	652	c.357G>C	c.(355-357)aaG>aaC	p.K119N	LTF_ENST00000426532.2_Missense_Mutation_p.K75N|LTF_ENST00000417439.1_Missense_Mutation_p.K119N	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	119	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.K119N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGCTGCCGCCCTTCTTCACCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											54.0	52.0	53.0					3																	46497428		2203	4300	6503	46472432	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.357G>C	3.37:g.46497428C>G	ENSP00000231751:p.Lys119Asn		46472432	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431887	0.25813	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.39229	2.13;2.13;2.13;2.13;1.09;1.09	4.89	-3.6	0.04570	.	0.255107	0.45361	N	0.000379	T	0.45796	0.1360	M	0.85197	2.74	0.36371	D	0.861327	B;B;B	0.28552	0.215;0.012;0.215	B;B;B	0.37780	0.258;0.019;0.258	T	0.46871	-0.9160	10	0.56958	D	0.05	-2.1613	8.3451	0.32268	0.0:0.2577:0.1221:0.6202	.	119;106;119	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	N	119;75;119;106;130;75	ENSP00000231751:K119N;ENSP00000405719:K75N;ENSP00000405546:K119N;ENSP00000397427:K106N;ENSP00000395234:K130N;ENSP00000400254:K75N	ENSP00000231751:K119N	K	-	3	2	LTF	46472432	0.000000	0.05858	0.009000	0.14445	0.399000	0.30720	-0.584000	0.05800	-0.719000	0.04942	-0.345000	0.07892	AAG		0.532	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
MAN1A1	4121	hgsc.bcm.edu	37	6	119510873	119510873	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:119510873C>A	ENST00000368468.3	-	10	1943	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	501					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G501V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AATTTCAGCCCCGAGTTCAAG	0.498																																					Ovarian(136;8 1825 12608 33541 47587)											1	Substitution - Missense(1)	ovary(1)	6											142.0	139.0	140.0					6																	119510873		2203	4300	6503	119552572	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1502G>T	6.37:g.119510873C>A	ENSP00000357453:p.Gly501Val		119552572	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604170	0.66445	.	.	ENSG00000111885	ENST00000368468	T	0.73789	-0.78	5.52	5.52	0.82312	.	0.055863	0.64402	D	0.000001	D	0.89553	0.6748	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92447	0.5967	10	0.87932	D	0	-5.6292	14.9704	0.71229	0.0:0.8577:0.1423:0.0	.	501	P33908	MA1A1_HUMAN	V	501	ENSP00000357453:G501V	ENSP00000357453:G501V	G	-	2	0	MAN1A1	119552572	1.000000	0.71417	0.942000	0.38095	0.389000	0.30415	5.212000	0.65225	2.596000	0.87737	0.655000	0.94253	GGG		0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
MUC16	94025	hgsc.bcm.edu	37	19	9073806	9073806	+	Nonsense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:9073806G>C	ENST00000397910.4	-	3	13843	c.13640C>G	c.(13639-13641)tCa>tGa	p.S4547*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4549	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S4547*(1)|p.S180*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACATGTGCTGAACTGGCAGT	0.498																																																2	Substitution - Nonsense(2)	ovary(2)	19											129.0	126.0	127.0					19																	9073806		2089	4189	6278	8934806	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13640C>G	19.37:g.9073806G>C	ENSP00000381008:p.Ser4547*		8934806	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	54	22.814026	0.99951	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.43	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2668	0.20932	0.0:0.0:1.0:0.0	.	.	.	.	X	4547	.	ENSP00000381008:S4547X	S	-	2	0	MUC16	8934806	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	0.166000	0.16583	1.064000	0.40671	0.205000	0.17691	TCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PHB2	11331	hgsc.bcm.edu	37	12	7079398	7079398	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr12:7079398A>T	ENST00000535923.1	-	2	454	c.173T>A	c.(172-174)gTg>gAg	p.V58E	SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000546111.1_Missense_Mutation_p.V58E|PHB2_ENST00000544134.1_5'UTR|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000440277.1_Missense_Mutation_p.V58E|PHB2_ENST00000399433.2_Missense_Mutation_p.V58E|PHB2_ENST00000542912.1_Missense_Mutation_p.V58E	NM_001144831.1	NP_001138303.1			prohibitin 2									p.V58E(1)		ovary(2)|pancreas(1)	3						GTCCTGCTGCACTCCACCGAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											136.0	141.0	140.0					12																	7079398		2057	4188	6245	6949659	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.173T>A	12.37:g.7079398A>T	ENSP00000441875:p.Val58Glu		6949659		Missense_Mutation	SNP	ENST00000535923.1	37	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413814	0.83449	.	.	ENSG00000215021	ENST00000546111;ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316;ENST00000544134	D;D;D;D;D;D;T	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;1.1	4.68	4.68	0.58851	.	0.073354	0.53938	U	0.000047	D	0.97873	0.9301	H	0.95611	3.695	0.53688	D	0.999972	D;D;D	0.57899	0.958;0.981;0.98	D;D;D	0.67725	0.936;0.953;0.936	D	0.99023	1.0818	10	0.87932	D	0	-18.2266	14.2441	0.65975	1.0:0.0:0.0:0.0	.	58;58;58	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	E	58	ENSP00000441875:V58E;ENSP00000440317:V58E;ENSP00000382362:V58E;ENSP00000412856:V58E;ENSP00000441662:V58E;ENSP00000439029:V58E;ENSP00000445972:V58E	ENSP00000382362:V58E	V	-	2	0	PHB2	6949659	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	8.724000	0.91462	2.088000	0.63022	0.459000	0.35465	GTG		0.612	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273	
TMEM59L	25789	hgsc.bcm.edu	37	19	18729060	18729060	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:18729060G>T	ENST00000600490.1	+	7	945	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	TMEM59L_ENST00000262817.3_Missense_Mutation_p.D254Y			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	254						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D254Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACAGGACAATGACTTCCTCAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											68.0	49.0	55.0					19																	18729060		2203	4300	6503	18590060	SO:0001583	missense	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.760G>T	19.37:g.18729060G>T	ENSP00000470879:p.Asp254Tyr		18590060		Missense_Mutation	SNP	ENST00000600490.1	37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858708	0.51376	.	.	ENSG00000105696	ENST00000262817	T	0.55588	0.51	4.35	4.35	0.52113	.	0.113707	0.56097	D	0.000022	T	0.62134	0.2403	L	0.61218	1.895	0.80722	D	1	D	0.53312	0.959	P	0.53760	0.734	T	0.67393	-0.5682	10	0.66056	D	0.02	-24.6583	14.4022	0.67056	0.0:0.0:1.0:0.0	.	254	Q9UK28	TM59L_HUMAN	Y	254	ENSP00000262817:D254Y	ENSP00000262817:D254Y	D	+	1	0	TMEM59L	18590060	1.000000	0.71417	0.964000	0.40570	0.820000	0.46376	5.476000	0.66793	2.136000	0.66102	0.561000	0.74099	GAC		0.637	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2		
TP53	7157	hgsc.bcm.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TOP2A	7153	hgsc.bcm.edu	37	17	38556843	38556843	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr17:38556843C>T	ENST00000423485.1	-	22	2895	c.2737G>A	c.(2737-2739)Gta>Ata	p.V913I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	913					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.V913I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGAATAGCTACTTCACCACTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	17											104.0	89.0	94.0					17																	38556843		1827	4085	5912	35810369	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2737G>A	17.37:g.38556843C>T	ENSP00000411532:p.Val913Ile		35810369	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	4.515	0.095627	0.08681	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21031	2.03	5.46	3.48	0.39840	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.053601	0.64402	N	0.000001	T	0.09291	0.0229	N	0.05158	-0.105	0.58432	D	0.999995	B	0.13594	0.008	B	0.24006	0.05	T	0.15780	-1.0425	10	0.02654	T	1	.	12.3943	0.55376	0.0:0.8626:0.0:0.1374	.	913	P11388	TOP2A_HUMAN	I	913;993;936;949	ENSP00000411532:V913I	ENSP00000269577:V993I	V	-	1	0	TOP2A	35810369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.725000	0.38074	0.807000	0.34208	0.655000	0.94253	GTA		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
