#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_BAM_File	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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CDK5RAP2	55755	genome.wustl.edu	37	9	123210362	123210362	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr9:123210362G>A	ENST00000349780.4	-	22	3015	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R914W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R946W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R946W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	946	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTAATGACCGGGATGGTTTT	0.488																																						dbGAP											0													106.0	108.0	107.0					9																	123210362		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2836C>T	9.37:g.123210362G>A	ENSP00000343818:p.Arg946Trp		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.R946W	ENST00000349780.4	37	c.2836	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	8.473	0.857978	0.17178	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.23754	3.54;3.27;3.59;3.49;1.89	4.83	1.47	0.22746	.	1.121780	0.06980	N	0.819726	T	0.23451	0.0567	L	0.27053	0.805	0.09310	N	1	D;P;D;P;D	0.59767	0.986;0.95;0.984;0.916;0.968	P;P;P;B;B	0.48627	0.51;0.51;0.584;0.23;0.311	T	0.20672	-1.0268	10	0.87932	D	0	.	6.0468	0.19764	0.0:0.2997:0.4124:0.2879	.	715;914;946;946;340	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	W	914;946;946;946;340;718	ENSP00000354065:R914W;ENSP00000352258:R946W;ENSP00000343818:R946W;ENSP00000353317:R946W;ENSP00000400395:R340W	ENSP00000341695:R718W	R	-	1	2	CDK5RAP2	122250183	0.138000	0.22547	0.003000	0.11579	0.110000	0.19582	0.776000	0.26704	0.414000	0.25790	-0.463000	0.05309	CGG	CDK5RAP2	-	NULL	ENSG00000136861		0.488	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	156	0.00	0	G	NM_018249		123210362	123210362	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	missense	139	13.66	22	SNP	0.008	A
CTAGE5	4253	genome.wustl.edu	37	14	39788473	39788474	+	Missense_Mutation	DNP	TC	TC	AA	rs368369825		TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr14:39788473_39788474TC>AA	ENST00000280083.3	+	18	1835_1836	c.1521_1522TC>AA	c.(1519-1524)gtTCca>gtAAca	p.P508T	CTAGE5_ENST00000396165.4_Missense_Mutation_p.P479T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P496T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P513T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P508T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P428T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P508T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P433T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P479T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1043T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P479T			O15320	CTGE5_HUMAN	CTAGE family, member 5	508	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CACTCGATGTTCCAAATACAGC	0.282																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	Exception_encountered	14.37:g.39788473_39788474delinsAA	ENSP00000280083:p.Pro508Thr		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent|Missense_Mutation	SNP	NULL	p.V512|p.P513T	ENST00000280083.3	37	c.1536|c.1537	CCDS9674.1	14																																																																																			CTAGE5	-	NULL	ENSG00000150527		0.282	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	114	0.00	0	T|C	NM_005930		39788473|39788474	39788473|39788474	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	silent|missense	101|99	24.06|25.00	32|33	SNP	1.000	A
MAP2K5	5607	genome.wustl.edu	37	15	67873162	67873162	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr15:67873162G>C	ENST00000178640.5	+	4	949		c.e4+1		MAP2K5_ENST00000354498.5_Splice_Site|MAP2K5_ENST00000395476.2_Splice_Site|MAP2K5_ENST00000560591.1_Splice_Site	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5						activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTTCCAAGAGGTAATGTTGAG	0.328																																						dbGAP											0													118.0	119.0	119.0					15																	67873162		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.322+1G>C	15.37:g.67873162G>C			B4DE43|Q92961|Q92962	Splice_Site	SNP	-	e4+1	ENST00000178640.5	37	c.322+1	CCDS10224.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112198	0.77210	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K5	65660216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.756000	0.94617	0.563000	0.77884	.	MAP2K5	-	-	ENSG00000137764		0.328	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	169	0.00	0	G	NM_145162	Intron	67873162	67873162	+1	no_errors	ENST00000178640	ensembl	human	known	69_37n	splice_site	137	23.03	41	SNP	1.000	C
MEFV	4210	genome.wustl.edu	37	16	3306365	3306365	+	Silent	SNP	G	G	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr16:3306365G>T	ENST00000219596.1	-	1	262	c.223C>A	c.(223-225)Cgg>Agg	p.R75R	MEFV_ENST00000536379.1_Silent_p.R75R|MEFV_ENST00000339854.4_Silent_p.R75R|MEFV_ENST00000541159.1_Silent_p.R75R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	75	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TTGATGGCCCGCAGGACCTGC	0.652																																						dbGAP											0													42.0	44.0	43.0					16																	3306365		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.223C>A	16.37:g.3306365G>T			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R75	ENST00000219596.1	37	c.223	CCDS10498.1	16																																																																																			MEFV	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000103313		0.652	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	26	0.00	0	G	NM_000243		3306365	3306365	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	0.351	T
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	80	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	A
POTEE	445582	genome.wustl.edu	37	2	132022031	132022031	+	Silent	SNP	C	C	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr2:132022031C>T	ENST00000356920.5	+	15	3097	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	1001	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTGTCTGGCGGCACCACCA	0.537																																						dbGAP											0													1.0	1.0	1.0					2																	132022031		335	417	752	-	-	-	SO:0001819	synonymous_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.3003C>T	2.37:g.132022031C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G1001	ENST00000356920.5	37	c.3003	CCDS46414.1	2																																																																																			AC131180.1	-	pfam_Actin-like,smart_Actin-like	ENSG00000188219		0.537	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		8	0.00	0	C	NM_001083538		132022031	132022031	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62193251	62193251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr20:62193251delG	ENST00000467148.1	-	11	6685	c.6616delC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTCTCCCCACGGGGGGGGCCT	0.647																																						dbGAP											0									,	50,45,3881		3,0,44,1,43,1897					,	-2.0	0.0			7	161,78,7677		5,0,151,1,76,3725	no	codingComplex,codingComplex	PRIC285	NM_033405.3,NM_001037335.2	,	8,0,195,2,119,5622	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0192,2.3893,2.8086	,	,		211,123,11558				-	-	-	SO:0001589	frameshift_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6616delC	20.37:g.62193251delG	ENSP00000417401:p.Arg2206fs		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	pfam_RNase_II/R,smart_RNase_II/R	p.R2206fs	ENST00000467148.1	37	c.6616	CCDS33508.1	20																																																																																			RP4-697K14.7	-	NULL	ENSG00000130589		0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	12	0.00	0	G	NM_001037335		62193251	62193251	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.000	-
RASGEF1C	255426	genome.wustl.edu	37	5	179564989	179564989	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr5:179564989C>T	ENST00000393371.2	-	1	360	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.E22K|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	22					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTGGGCTCGGTGGGGGGT	0.652																																						dbGAP											0													51.0	50.0	50.0					5																	179564989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.64G>A	5.37:g.179564989C>T	ENSP00000377037:p.Glu22Lys		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E22K	ENST00000393371.2	37	c.64	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122573	0.20877	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.69561	-0.41;-0.41	4.04	0.806	0.18708	.	0.339554	0.26369	N	0.024764	T	0.43411	0.1246	N	0.19112	0.55	0.31670	N	0.644525	B	0.17268	0.021	B	0.06405	0.002	T	0.31110	-0.9955	10	0.30854	T	0.27	.	5.606	0.17379	0.0:0.3236:0.4723:0.2041	.	22	Q8N431	RGF1C_HUMAN	K	22	ENSP00000354963:E22K;ENSP00000377037:E22K	ENSP00000354963:E22K	E	-	1	0	RASGEF1C	179497595	0.373000	0.25073	0.312000	0.25196	0.334000	0.28698	0.720000	0.25896	0.401000	0.25424	0.511000	0.50034	GAG	RASGEF1C	-	NULL	ENSG00000146090		0.652	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	64	0.00	0	C	NM_175062		179564989	179564989	-1	no_errors	ENST00000361132	ensembl	human	known	69_37n	missense	36	36.21	21	SNP	0.454	T
SCN9A	6335	genome.wustl.edu	37	2	167099093	167099093	+	Silent	SNP	C	C	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr2:167099093C>T	ENST00000409435.1	-	18	3545	c.3546G>A	c.(3544-3546)agG>agA	p.R1182R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.R1183R|SCN9A_ENST00000409672.1_Silent_p.R1171R|SCN9A_ENST00000375387.4_Silent_p.R1183R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1182					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGGTTTTCCTGATGTTCC	0.428																																						dbGAP											0													91.0	89.0	89.0					2																	167099093		1985	4187	6172	-	-	-	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3546G>A	2.37:g.167099093C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R1183	ENST00000409435.1	37	c.3549	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Na_trans_assoc	ENSG00000169432		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	149	0.00	0	C	NM_002977		167099093	167099093	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	silent	135	16.67	27	SNP	0.995	T
SIPA1L3	23094	genome.wustl.edu	37	19	38655323	38655323	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr19:38655323C>T	ENST00000222345.6	+	15	4494	c.3985C>T	c.(3985-3987)Cca>Tca	p.P1329S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1329					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCAAGGCTCCACGGCCCGC	0.677																																						dbGAP											0													44.0	37.0	40.0					19																	38655323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3985C>T	19.37:g.38655323C>T	ENSP00000222345:p.Pro1329Ser		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.P1329S	ENST00000222345.6	37	c.3985	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088464	0.20390	.	.	ENSG00000105738	ENST00000222345	T	0.54866	0.55	4.53	1.18	0.20946	.	0.716842	0.13569	N	0.378234	T	0.20820	0.0501	N	0.01874	-0.695	0.23487	N	0.997571	B	0.15473	0.013	B	0.12156	0.007	T	0.15206	-1.0445	10	0.29301	T	0.29	-5.4057	4.1189	0.10095	0.0:0.4899:0.177:0.3332	.	1329	O60292	SI1L3_HUMAN	S	1329	ENSP00000222345:P1329S	ENSP00000222345:P1329S	P	+	1	0	SIPA1L3	43347163	0.020000	0.18652	0.015000	0.15790	0.821000	0.46438	0.184000	0.16939	0.877000	0.35895	0.650000	0.86243	CCA	SIPA1L3	-	NULL	ENSG00000105738		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	38	0.00	0	C	XM_032278		38655323	38655323	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.016	T
SPEN	23013	genome.wustl.edu	37	1	16258660	16258661	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr1:16258660_16258661delCA	ENST00000375759.3	+	11	6129_6130	c.5925_5926delCA	c.(5923-5928)ctcaagfs	p.K1976fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1976					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGAAACACTCAAGCCACCTGA	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5925_5926delCA	1.37:g.16258660_16258661delCA	ENSP00000364912:p.Lys1976fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.K1976fs	ENST00000375759.3	37	c.5925_5926	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.594	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	13	0.00	0	CA	NM_015001		16258660	16258661	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.124:0.296	-
THSD7A	221981	genome.wustl.edu	37	7	11509516	11509516	+	Silent	SNP	C	C	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr7:11509516C>T	ENST00000423059.4	-	9	2609	c.2358G>A	c.(2356-2358)tcG>tcA	p.S786S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	786	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTCTTTACACGAAGAGGGGC	0.473										HNSCC(18;0.044)																												dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2358G>A	7.37:g.11509516C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S786	ENST00000423059.4	37	c.2358	CCDS47543.1	7																																																																																			THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.473	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	70	0.00	0	C	XM_928187.2		11509516	11509516	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	silent	52	18.75	12	SNP	0.006	T
TRPC5	7224	genome.wustl.edu	37	X	111155993	111155993	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chrX:111155993G>T	ENST00000262839.2	-	3	1344	c.426C>A	c.(424-426)gaC>gaA	p.D142E		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	142					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGAGTGATGTCCGGTGTGA	0.493																																						dbGAP											0													112.0	95.0	101.0					X																	111155993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.426C>A	X.37:g.111155993G>T	ENSP00000262839:p.Asp142Glu		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D142E	ENST00000262839.2	37	c.426	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539186	0.65085	.	.	ENSG00000072315	ENST00000262839	T	0.52754	0.65	5.43	2.67	0.31697	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	L	0.61036	1.89	0.52099	D	0.999942	P;D	0.64830	0.924;0.994	P;D	0.64237	0.889;0.923	T	0.57590	-0.7785	10	0.54805	T	0.06	-11.7823	9.4487	0.38712	0.3271:0.0:0.6729:0.0	.	143;142	Q59G51;Q9UL62	.;TRPC5_HUMAN	E	142	ENSP00000262839:D142E	ENSP00000262839:D142E	D	-	3	2	TRPC5	111042649	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.631000	0.24568	0.483000	0.27608	0.529000	0.55759	GAC	TRPC5	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel	ENSG00000072315		0.493	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	136	0.00	0	G	NM_012471		111155993	111155993	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	96	22.58	28	SNP	1.000	T
ZNFX1	57169	genome.wustl.edu	37	20	47881273	47881273	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YI-01A-31D-A10M-09	TCGA-A2-A0YI-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d2ae968-c977-4b65-869a-5e96ff3216e9	9764d7b0-0bbc-44e5-9207-2215d542ed54	g.chr20:47881273G>T	ENST00000396105.1	-	5	2377	c.2131C>A	c.(2131-2133)Ctc>Atc	p.L711I	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L711I|ZNFX1_ENST00000371754.4_Missense_Mutation_p.L711I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	711							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCCTTCGGAGGTGCATGGGG	0.547																																						dbGAP											0													163.0	148.0	153.0					20																	47881273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2131C>A	20.37:g.47881273G>T	ENSP00000379412:p.Leu711Ile		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L711I	ENST00000396105.1	37	c.2131	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760812	0.89932	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.85411	-1.98;-1.65;-1.65;1.85;1.85	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	L	0.33093	0.98	0.58432	D	0.999999	D	0.54397	0.966	P	0.56343	0.796	T	0.82602	-0.0376	10	0.22109	T	0.4	-18.9444	18.6976	0.91607	0.0:0.0:1.0:0.0	.	711	Q9P2E3	ZNFX1_HUMAN	I	711;711;711;711;711;515	ENSP00000360819:L711I;ENSP00000360817:L711I;ENSP00000379412:L711I;ENSP00000360809:L711I;ENSP00000413800:L515I	ENSP00000360809:L711I	L	-	1	0	ZNFX1	47314680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.136000	0.94489	2.770000	0.95276	0.655000	0.94253	CTC	ZNFX1	-	NULL	ENSG00000124201		0.547	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	162	0.00	0	G	NM_021035		47881273	47881273	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	missense	118	18.62	27	SNP	1.000	T
