#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_CAF	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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	394	133	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	328	109	9.39	9.17	34	11	SNP	1	A
NTRK2	4915	genome.wustl.edu	37	9	87342744	87342744	+	Silent	SNP	C	C	T	rs147059990	byFrequency	TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr9:87342744C>T	ENST00000323115.4	+	8	1382	c.1029C>T	c.(1027-1029)caC>caT	p.H343H	NTRK2_ENST00000277120.3_Silent_p.H343H|NTRK2_ENST00000376214.1_Silent_p.H343H|NTRK2_ENST00000376213.1_Silent_p.H343H|NTRK2_ENST00000395866.2_Silent_p.H187H|NTRK2_ENST00000376208.1_Silent_p.H343H|NTRK2_ENST00000359847.3_Silent_p.H343H|NTRK2_ENST00000395882.1_Silent_p.H343H|NTRK2_ENST00000304053.6_Silent_p.H343H			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	343	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CGGAGTACCACGGCTGCCTCC	0.448										TSP Lung(25;0.17)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		21145	0.0		0.0	False		,,,				2504	0.001						0.9996,0.0003994											0								C	,,,,	0,4406		0,0,2203	122.0	115.0	118.0		1029,1029,1029,1029,1029	-6.4	0.8	9	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	343/478,343/823,343/554,343/538,343/839	87342744	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1029C>T	9.37:g.87342744C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.H343	ENST00000323115.4	37	c.1029	CCDS35050.1	9																																																																																			0	pfam_Ig_I-set,prints_Tyr_kin_neurotrophic_rcpt_2		0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	61	202	0	0.00	0	0	C		rs147059990	C->T		87342744	1	no_errors	ENST00000277120	ensembl	human	known	74_37	silent	59	157	7.81	4.27	5	7	SNP	0.833	T
CFAP54	144535	genome.wustl.edu	37	12	97078944	97078944	+	Missense_Mutation	SNP	G	G	A			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr12:97078944G>A	ENST00000524981.4	+	42	5965	c.5942G>A	c.(5941-5943)aGt>aAt	p.S1981N				Q96N23	CL055_HUMAN		126																	AAAGACTACAGTGAGGAGTTT	0.483																																							0											0													104.0	92.0	96.0					12																	97078944		2203	4300	6503	SO:0001583	missense	0																														ENST00000524981.4:c.5942G>A	12.37:g.97078944G>A	ENSP00000431759:p.Ser1981Asn			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S1981N	ENST00000524981.4	37	c.5942		12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980702	0.74474	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.69	5.69	0.88448	.	0.067641	0.64402	D	0.000006	T	0.78874	0.4352	M	0.61703	1.905	0.36424	D	0.864464	D	0.89917	1.0	D	0.85130	0.997	T	0.82172	-0.0589	9	0.87932	D	0	-22.7092	20.181	0.98201	0.0:0.0:1.0:0.0	.	406	Q6ZTY8	CL063_HUMAN	N	1981;406	.	ENSP00000345466:S406N	S	+	2	0	C12orf63	95603075	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	6.571000	0.74000	2.840000	0.97914	0.655000	0.94253	AGT	0	NULL		0.483	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	93	184	0	0.00	0	0	G		0	0		97078944	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	76	183	8.43	13.68	7	29	SNP	1	A
RAB11A	8766	genome.wustl.edu	37	15	66170291	66170291	+	Missense_Mutation	SNP	C	C	T			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr15:66170291C>T	ENST00000261890.2	+	3	556	c.428C>T	c.(427-429)gCa>gTa	p.A143V	RAB11A_ENST00000569896.1_Missense_Mutation_p.A143V|RAB11A_ENST00000435304.2_Missense_Mutation_p.A143V|RAB11A_ENST00000565075.1_Missense_Mutation_p.A143V|RAB11A_ENST00000564910.1_Missense_Mutation_p.A73V	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	143					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGAGCTTTTGCAGGTTAGTGA	0.383																																							0											0													187.0	168.0	174.0					15																	66170291		2201	4299	6500	SO:0001583	missense	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.428C>T	15.37:g.66170291C>T	ENSP00000261890:p.Ala143Val		B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A143V	ENST00000261890.2	37	c.428	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.547511	0.96488	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	D;D	0.82255	-1.59;-1.59	5.59	5.59	0.84812	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92371	0.7579	M	0.88775	2.98	0.80722	D	1	P;D	0.76494	0.908;0.999	P;D	0.65323	0.517;0.934	D	0.93233	0.6619	10	0.72032	D	0.01	.	19.59	0.95506	0.0:1.0:0.0:0.0	.	143;143	B4DT13;P62491	.;RB11A_HUMAN	V	143	ENSP00000261890:A143V;ENSP00000405767:A143V	ENSP00000261890:A143V	A	+	2	0	RAB11A	63957345	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	GCA	0	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	protein_coding	OTTHUMT00000256864.1	57	266	0	0.00	0	0	C		0	0		66170291	1	no_errors	ENST00000261890	ensembl	human	known	74_37	missense	52	250	7.14	6.02	4	16	SNP	1	T
KANSL1	284058	genome.wustl.edu	37	17	44270985	44270985	+	Intron	SNP	G	G	A	rs528572193		TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr17:44270985G>A	ENST00000574590.1	-	2	138				KANSL1_ENST00000262419.6_5'Flank|KANSL1_ENST00000572904.1_5'Flank|KANSL1-AS1_ENST00000572634.1_RNA|KANSL1_ENST00000393476.3_5'Flank|KANSL1-AS1_ENST00000398275.4_RNA|KANSL1-AS1_ENST00000572973.1_RNA	NM_001193465.1	NP_001180394.1	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCCTCGCCGTGGCCGATGTTT	0.806																																							0											0																																										SO:0001627	intron_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000574590.1:c.89-21387C>T	17.37:g.44270985G>A			A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	RNA	SNP	0	NULL	ENST00000574590.1	37	NULL	CCDS11503.1	17	223	0.1021062271062271	20	0.04065040650406504	58	0.16022099447513813	1	0.0017482517482517483	144	0.18997361477572558	G	3.647	-0.072325	0.07228	.	.	ENSG00000214401	ENST00000398275	.	.	.	2.78	0.604	0.17547	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.01165	-1.1431	5	0.87932	D	0	.	4.091	0.09970	0.1466:0.2441:0.6093:0.0	.	.	.	.	S	16	.	ENSP00000381324:G16S	G	+	1	0	AC217773.1	41626762	0.312000	0.24545	0.367000	0.25926	0.005000	0.04900	0.505000	0.22642	0.077000	0.16863	0.289000	0.19496	GGC	0	0		0.806	KANSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1-AS1	protein_coding	OTTHUMT00000440270.2	8	17	0	0.00	0	0	G	NM_015443	rs528572193	G->A		44270985	1	no_errors	ENST00000398275	ensembl	human	known	74_37	rna	5	18	50	18.18	5	4	SNP	0.675	A
PTPRM	5797	genome.wustl.edu	37	18	7888204	7888204	+	Missense_Mutation	SNP	T	T	G	rs144420909		TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr18:7888204T>G	ENST00000332175.8	+	3	1334	c.297T>G	c.(295-297)ttT>ttG	p.F99L	PTPRM_ENST00000400053.4_Missense_Mutation_p.F37L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F99L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F99L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	99	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCATCGATTTTCACTATTTTG	0.478																																							0											0													120.0	121.0	121.0					18																	7888204		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.297T>G	18.37:g.7888204T>G	ENSP00000331418:p.Phe99Leu		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F99L	ENST00000332175.8	37	c.297	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	T	28.5	4.921938	0.92319	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.09255	3.0;3.0;3.0	5.83	-0.348	0.12613	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	M	0.88570	2.965	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74348	0.983;0.983	T	0.30736	-0.9968	10	0.87932	D	0	.	10.9518	0.47334	0.0:0.5077:0.0:0.4923	.	99;99	A7MBN1;P28827	.;PTPRM_HUMAN	L	99;99;37	ENSP00000331418:F99L;ENSP00000382933:F99L;ENSP00000382927:F37L	ENSP00000331418:F99L	F	+	3	2	PTPRM	7878204	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.387000	0.20718	0.145000	0.18977	0.533000	0.62120	TTT	0	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.478	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	63	257	0	0.00	0	0	T		0	0		7888204	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	49	218	18.03	14.17	11	36	SNP	1	G
CLDND2	125875	genome.wustl.edu	37	19	51871173	51871173	+	Missense_Mutation	SNP	C	C	T			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr19:51871173C>T	ENST00000291715.1	-	2	702	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	ETFB_ENST00000309244.4_5'Flank|CTD-2616J11.11_ENST00000600067.1_Missense_Mutation_p.G28S|CTD-2616J11.10_ENST00000595500.1_RNA|CLDND2_ENST00000601435.1_Missense_Mutation_p.G93S	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	93						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTGGTCTGGCCCCGCAGCGAC	0.721																																							0											0													23.0	24.0	24.0					19																	51871173		2195	4298	6493	SO:0001583	missense	0			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.277G>A	19.37:g.51871173C>T	ENSP00000291715:p.Gly93Ser			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.G93S	ENST00000291715.1	37	c.277	CCDS12829.1	19	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588521	0.28357	.	.	ENSG00000160318	ENST00000291715	D	0.95588	-3.75	4.69	1.3	0.21679	.	1.100760	0.07086	N	0.837952	D	0.90710	0.7085	L	0.31926	0.97	0.09310	N	1	B	0.17852	0.024	B	0.18561	0.022	T	0.79035	-0.1968	10	0.22109	T	0.4	-3.372	6.7213	0.23332	0.0:0.6793:0.0:0.3207	.	93	Q8NHS1	CLDN2_HUMAN	S	93	ENSP00000291715:G93S	ENSP00000291715:G93S	G	-	1	0	CLDND2	56562985	0.668000	0.27493	0.631000	0.29282	0.252000	0.25951	1.014000	0.29950	0.390000	0.25115	0.561000	0.74099	GGC	0	pfam_PMP22/EMP/MP20/Claudin		0.721	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND2	protein_coding	OTTHUMT00000464268.1	22	54	0	0.00	0	0	C	NM_152353	0	0		51871173	-1	no_errors	ENST00000291715	ensembl	human	known	74_37	missense	22	46	18.52	13.21	5	7	SNP	0.097	T
PTPRA	5786	genome.wustl.edu	37	20	3016331	3016331	+	Missense_Mutation	SNP	G	G	A			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr20:3016331G>A	ENST00000216877.6	+	20	2394	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	PTPRA_ENST00000380393.3_Missense_Mutation_p.R674Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.R530Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.R685Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.R674Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.R665Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.R665Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	674	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TACACCGTCCGAGACCTCCTG	0.547																																							0											0													90.0	81.0	84.0					20																	3016331		2203	4300	6503	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1994G>A	20.37:g.3016331G>A	ENSP00000216877:p.Arg665Gln		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R685Q	ENST00000216877.6	37	c.2054	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.672903	0.96754	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.59459	0.2195	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	T	0.72934	-0.4141	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	685;674;665	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Q	674;665;674;530;284;685;665;665	ENSP00000369756:R674Q;ENSP00000216877:R665Q;ENSP00000382787:R674Q;ENSP00000351559:R530Q;ENSP00000393553:R685Q;ENSP00000314568:R665Q;ENSP00000348468:R665Q	ENSP00000216877:R665Q	R	+	2	0	PTPRA	2964331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.604000	0.88044	0.563000	0.77884	CGA	0	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	61	169	0	0.00	0	0	G		0	0		3016331	1	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	35	131	14.63	7.75	6	11	SNP	1	A
SEZ6L	23544	genome.wustl.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T	rs371203903		TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577																																							0											2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)						C	,,,,,	0,4406		0,0,2203	49.0	43.0	45.0		1128,1128,1128,1128,1128,1128	-10.5	0.0	22		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1128C>T	22.37:g.26693012C>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D376	ENST00000248933.6	37	c.1128	CCDS13833.1	22																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	52	212	0	0.00	0	0	C		rs371203903	C->T		26693012	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	21	173	22.22	4.42	6	8	SNP	0.263	T
PCDHB13	56123	genome.wustl.edu	37	5	140594606	140594607	+	Frame_Shift_Ins	INS	-	-	A	rs542637908	byFrequency	TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr5:140594606_140594607insA	ENST00000341948.4	+	1	1098_1099	c.911_912insA	c.(910-915)ctaaaafs	p.LK304fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	304	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATTGAACTAAAAAAACAAC	0.391																																							0											0																																										SO:0001589	frameshift_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.918dupA	5.37:g.140594613_140594613dupA	ENSP00000345491:p.Leu304fs		A8K9V6	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q307fs	ENST00000341948.4	37	c.911_912	CCDS4255.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.391	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	79	249	0	0.00	0	0	0	NM_018933	0	0		140594607	1	no_errors	ENST00000341948	ensembl	human	known	74_37	frame_shift_ins	59	223	10.61	4.70	7	11	INS	0.092:0.000	A
OR8B12	219858	genome.wustl.edu	37	11	124413131	124413132	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr11:124413131_124413132delAC	ENST00000306842.2	-	1	443_444	c.419_420delGT	c.(418-420)tgtfs	p.C140fs		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AAAGGAGCAAACACACCTGGCA	0.535																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.419_420delGT	11.37:g.124413135_124413136delAC	ENSP00000307159:p.Cys140fs		B2RNF6|Q6IEW8|Q96RC7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C140fs	ENST00000306842.2	37	c.420_419	CCDS31711.1	11																																																																																			0	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.535	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	43	155	0	0.00	0	0	AC		0	0		124413132	-1	no_errors	ENST00000306842	ensembl	human	known	74_37	frame_shift_del	29	151	14.71	10.12	5	17	DEL	0.006:0.002	0
KRT8	3856	genome.wustl.edu	37	12	53295733	53295733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr12:53295733G>A	ENST00000552551.1	-	3	880	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	KRT8_ENST00000293308.6_Nonsense_Mutation_p.Q150*|KRT8_ENST00000552150.1_Nonsense_Mutation_p.Q178*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.Q150*			P05787	K2C8_HUMAN	keratin 8	150	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GTCTCCAGCTGCCGCCTAAGG	0.567																																							0											0													75.0	79.0	78.0					12																	53295733		2203	4297	6500	SO:0001587	stop_gained	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.448C>T	12.37:g.53295733G>A	ENSP00000447566:p.Gln150*		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Q150*	ENST00000552551.1	37	c.448	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.134526	0.98085	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000546900;ENST00000547413	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.7281	0.85428	0.0:0.0:1.0:0.0	.	.	.	.	X	150;150;150;150;178;150;190;33;150	.	ENSP00000293308:Q150X	Q	-	1	0	KRT8	51582000	1.000000	0.71417	0.999000	0.59377	0.525000	0.34531	6.789000	0.75110	2.442000	0.82660	0.455000	0.32223	CAG	0	pfam_IF		0.567	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	protein_coding	OTTHUMT00000406385.1	33	1	0	0.00	0	0	G	NM_002273	0	0		53295733	-1	no_errors	ENST00000293308	ensembl	human	known	74_37	nonsense	24	0	14.29	0.00	4	0	SNP	1	A
