#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_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_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCD3	5825	genome.wustl.edu	37	1	94964343	94964343	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:94964343G>T	ENST00000370214.4	+	18	1493	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.W380L|ABCD3_ENST00000536817.1_Missense_Mutation_p.W417L|ABCD3_ENST00000454898.2_Missense_Mutation_p.W514L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	490	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TAATAGTTATGGCCTCTTTTT	0.348																																																	0													115.0	111.0	112.0					1																	94964343		2203	4300	6503	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1469G>T	1.37:g.94964343G>T	ENSP00000359233:p.Trp490Leu		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.W514L	ENST00000370214.4	37	c.1541	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787298	0.90367	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99806	-6.84;-6.84;-6.84;-6.84	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	L	0.39020	1.185	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.80764	0.994;0.994;0.994	D	0.98411	1.0572	10	0.87932	D	0	-6.6228	19.9561	0.97218	0.0:0.0:1.0:0.0	.	514;380;490	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	L	380;514;417;490	ENSP00000377780:W380L;ENSP00000403357:W514L;ENSP00000440692:W417L;ENSP00000359233:W490L	ENSP00000359233:W490L	W	+	2	0	ABCD3	94736931	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.230000	0.95299	2.725000	0.93324	0.591000	0.81541	TGG	ABCD3	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter	ENSG00000117528		0.348	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1		0.00	46	0	G	NM_002858		94964343	+1			no_errors	ENST00000454898	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
ADAMTS18	170692	genome.wustl.edu	37	16	77323161	77323161	+	Splice_Site	SNP	C	C	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:77323161C>A	ENST00000282849.5	-	22	3968	c.3550G>T	c.(3550-3552)Gag>Tag	p.E1184*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1184	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCCTTTTTACCTCTCTTTTCA	0.443																																																	0													180.0	194.0	189.0					16																	77323161		2198	4300	6498	SO:0001630	splice_region_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3550+1G>T	16.37:g.77323161C>A			Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1184*	ENST00000282849.5	37	c.3550	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	47	13.149036	0.99723	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.77	5.77	0.91146	.	0.344220	0.30911	N	0.008623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9804	0.92754	0.0:1.0:0.0:0.0	.	.	.	.	X	1184	.	.	E	-	1	0	ADAMTS18	75880662	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.947000	0.63583	2.740000	0.93945	0.557000	0.71058	GAG	ADAMTS18	-	pfscan_PLAC	ENSG00000140873		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0.00	53	0	C		Nonsense_Mutation	77323161	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	nonsense	25.00	30	10	SNP	1.000	A
AFAP1	60312	genome.wustl.edu	37	4	7845040	7845040	+	Silent	SNP	C	C	T	rs151138054	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:7845040C>T	ENST00000360265.4	-	4	606	c.372G>A	c.(370-372)tcG>tcA	p.S124S	AFAP1_ENST00000382543.3_Silent_p.S124S|AFAP1_ENST00000358461.2_Silent_p.S124S|AFAP1_ENST00000420658.1_Silent_p.S124S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	124						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCATCATACGACTCATAAG	0.493																																																	0													72.0	67.0	69.0					4																	7845040		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.372G>A	4.37:g.7845040C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S124	ENST00000360265.4	37	c.372	CCDS3397.1	4																																																																																			AFAP1	-	NULL	ENSG00000196526		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2		0.00	68	0	C	NM_021638		7845040	-1			no_errors	ENST00000420658	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.119	T
AK5	26289	genome.wustl.edu	37	1	77748056	77748056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:77748056G>T	ENST00000354567.2	+	1	321	c.58G>T	c.(58-60)Gag>Tag	p.E20*	AK5_ENST00000344720.5_5'Flank|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	20					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCAGCTTTTTGAGGTAGGGCT	0.667																																																	0													40.0	37.0	38.0					1																	77748056		2164	4258	6422	SO:0001587	stop_gained	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.58G>T	1.37:g.77748056G>T	ENSP00000346577:p.Glu20*		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.E20*	ENST00000354567.2	37	c.58	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.548695	0.98352	.	.	ENSG00000154027	ENST00000354567	.	.	.	4.29	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2508	13.253	0.60062	0.0:0.0:0.8396:0.1604	.	.	.	.	X	20	.	ENSP00000346577:E20X	E	+	1	0	AK5	77520644	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.025000	0.70864	1.127000	0.42034	0.561000	0.74099	GAG	AK5	-	pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000154027		0.667	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	-	0.00	76	0	G	NM_174858		77748056	+1	tier1	-	no_errors	ENST00000354567	ensembl	human	known	74_37	nonsense	18.37	80	18	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247065950	247065950	+	Missense_Mutation	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:247065950T>C	ENST00000391829.2	-	8	1117	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	AHCTF1_ENST00000326225.3_Missense_Mutation_p.T341A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T367A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	332	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGTCCAGGGTGTATCTTTCT	0.388																																					Colon(145;197 1800 4745 15099 26333)												0													103.0	97.0	99.0					1																	247065950		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.994A>G	1.37:g.247065950T>C	ENSP00000375705:p.Thr332Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.T341A	ENST00000391829.2	37	c.1021		1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167780	0.57476	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.21361	2.01;2.01;2.01	5.2	4.07	0.47477	.	0.095952	0.64402	D	0.000001	T	0.15955	0.0384	N	0.14661	0.345	0.34736	D	0.730222	P;P	0.46512	0.879;0.842	P;B	0.45639	0.488;0.248	T	0.21348	-1.0248	10	0.59425	D	0.04	-12.6948	11.067	0.47980	0.0:0.0734:0.0:0.9266	.	367;332	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	367;341;332	ENSP00000355464:T367A;ENSP00000355465:T341A;ENSP00000375705:T332A	ENSP00000355465:T341A	T	-	1	0	AHCTF1	245132573	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	7.460000	0.80816	0.927000	0.37143	0.460000	0.39030	ACC	AHCTF1	-	NULL	ENSG00000153207		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding			0.00	37	0	T	NM_015446		247065950	-1			no_errors	ENST00000326225	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C
AKT1S1	84335	genome.wustl.edu	37	19	50376254	50376255	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:50376254_50376255CT>TA	ENST00000391833.1	-	1	2287_2288	c.298_299AG>TA	c.(298-300)AGa>TAa	p.R100*	AKT1S1_ENST00000344175.5_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391831.1_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391834.2_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391832.3_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391835.1_Nonsense_Mutation_p.R120*	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTTGTCCTCTCTGGCCAGGGTA	0.673																																																	0																																										SO:0001587	stop_gained	0			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.298_299delinsTA	19.37:g.50376254_50376255delinsTA	ENSP00000375709:p.Arg100*			Missense_Mutation|Nonsense_Mutation	SNP	NULL	p.R100K|p.R100*	ENST00000391833.1	37	c.299|c.298	CCDS12784.1	19																																																																																			AKT1S1	-	NULL	ENSG00000204673		0.673	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0.00	62	0	C|T	NM_032375		50376254|50376255	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense|nonsense	16.13|19.57	38|37	10|9	SNP	0.097|0.008	T|A
AKT1S1	84335	genome.wustl.edu	37	19	50376260	50376260	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:50376260A>G	ENST00000391833.1	-	1	2282	c.293T>C	c.(292-294)cTg>cCg	p.L98P	AKT1S1_ENST00000344175.5_Missense_Mutation_p.L98P|AKT1S1_ENST00000391831.1_Missense_Mutation_p.L98P|AKT1S1_ENST00000391834.2_Missense_Mutation_p.L98P|AKT1S1_ENST00000391832.3_Missense_Mutation_p.L98P|AKT1S1_ENST00000391835.1_Missense_Mutation_p.L118P	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTCTCTGGCCAGGGTAGGCCG	0.667																																																	0													29.0	24.0	25.0					19																	50376260		2193	4288	6481	SO:0001583	missense	0			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.293T>C	19.37:g.50376260A>G	ENSP00000375709:p.Leu98Pro			Missense_Mutation	SNP	NULL	p.L98P	ENST00000391833.1	37	c.293	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879191	0.33162	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831;ENST00000391830	T;T;T;T;T;T;T	0.53640	0.62;0.62;0.62;0.62;0.61;0.62;0.7	4.26	2.03	0.26663	.	0.626182	0.14274	N	0.329979	T	0.21590	0.0520	N	0.08118	0	0.22811	N	0.998703	B	0.02656	0.0	B	0.01281	0.0	T	0.11567	-1.0582	10	0.27785	T	0.31	-6.6796	2.8644	0.05596	0.6058:0.0:0.2085:0.1857	.	98	Q96B36	AKTS1_HUMAN	P	98;98;98;98;118;98;98	ENSP00000375709:L98P;ENSP00000341698:L98P;ENSP00000375708:L98P;ENSP00000375710:L98P;ENSP00000375711:L118P;ENSP00000375707:L98P;ENSP00000375706:L98P	ENSP00000341698:L98P	L	-	2	0	AKT1S1	55068072	0.528000	0.26314	0.980000	0.43619	0.401000	0.30781	0.626000	0.24492	0.698000	0.31739	0.459000	0.35465	CTG	AKT1S1	-	NULL	ENSG00000204673		0.667	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0.00	61	0	A	NM_032375		50376260	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.094	G
ALKBH3	221120	genome.wustl.edu	37	11	43918889	43918889	+	Intron	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:43918889G>A	ENST00000302708.4	+	8	870				ALKBH3_ENST00000378840.4_Silent_p.*171*|ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TGGGCTCCTTGAGAATATTCA	0.473								Direct reversal of damage																																									0													145.0	153.0	150.0					11																	43918889		876	1991	2867	SO:0001627	intron_variant	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.460-4177G>A	11.37:g.43918889G>A			A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	NULL	p.*172	ENST00000302708.4	37	c.515	CCDS7906.1	11																																																																																			ALKBH3	-	NULL	ENSG00000166199		0.473	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0.00	37	0	G	NM_139178		43918889	+1	tier1	-	no_errors	ENST00000532962	ensembl	human	known	74_37	silent	39.47	22	15	SNP	0.915	A
APBB3	10307	genome.wustl.edu	37	5	139941700	139941700	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:139941700C>T	ENST00000357560.4	-	6	1054	c.611G>A	c.(610-612)gGg>gAg	p.G204E	APBB3_ENST00000354402.5_Missense_Mutation_p.G204E|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.G204E|APBB3_ENST00000412920.3_Missense_Mutation_p.G204E|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.G204E|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.G204E|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	204	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGAGCTCCCCACGCCCCA	0.597																																																	0													68.0	66.0	66.0					5																	139941700		2203	4300	6503	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.611G>A	5.37:g.139941700C>T	ENSP00000350171:p.Gly204Glu		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.G204E	ENST00000357560.4	37	c.611	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425732	0.83667	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;2.22;2.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65315	-0.6198	9	.	.	.	-21.2082	19.773	0.96379	0.0:1.0:0.0:0.0	.	204;204	O95704-2;O95704-3	.;.	E	204	ENSP00000351389:G204E;ENSP00000349177:G204E;ENSP00000346378:G204E;ENSP00000350171:G204E;ENSP00000402591:G204E;ENSP00000424317:G204E	.	G	-	2	0	APBB3	139921884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.677000	0.91161	0.655000	0.94253	GGG	APBB3	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000113108		0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	-	0.00	26	0	C	NM_006051		139941700	-1	tier1	-	no_errors	ENST00000356738	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T
ARHGAP5	394	genome.wustl.edu	37	14	32561340	32561340	+	Missense_Mutation	SNP	G	G	A	rs78337553		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr14:32561340G>A	ENST00000345122.3	+	2	1780	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E489K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	489	FF 4.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E489K(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAAGAAGAGTTTCAAGA	0.343																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - Missense(1)	stomach(1)											60.0	61.0	61.0					14																	32561340		2203	4298	6501	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1465G>A	14.37:g.32561340G>A	ENSP00000371897:p.Glu489Lys		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.E489K	ENST00000345122.3	37	c.1465	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741262	0.69304	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.02	6.02	0.97574	FF domain (2);	0.044905	0.85682	D	0.000000	T	0.39009	0.1062	N	0.22421	0.69	0.80722	D	1	P;P	0.42296	0.734;0.775	P;P	0.52066	0.562;0.689	T	0.11060	-1.0603	10	0.62326	D	0.03	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	489;489	Q13017-2;Q13017	.;RHG05_HUMAN	K	489	ENSP00000452222:E489K;ENSP00000441692:E489K;ENSP00000371897:E489K;ENSP00000393307:E489K	ENSP00000371897:E489K	E	+	1	0	ARHGAP5	31631091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAG	ARHGAP5	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain	ENSG00000100852		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	34	0	G	NM_001030055		32561340	+1	tier1	rs78337553	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	12.90	54	8	SNP	1.000	A
ATP6V0C	527	genome.wustl.edu	37	16	2569636	2569636	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:2569636G>T	ENST00000330398.4	+	3	592	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.G77C|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR|RP11-20I23.1_ENST00000564543.1_3'UTR|AMDHD2_ENST00000413459.3_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.G77C	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	120					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TGGCGTGCGGGGCACCGCCCA	0.687																																																	0													37.0	36.0	37.0					16																	2569636		2198	4300	6498	SO:0001583	missense	0			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.358G>T	16.37:g.2569636G>T	ENSP00000329757:p.Gly120Cys		Q6FH26	Missense_Mutation	SNP	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk	p.G120C	ENST00000330398.4	37	c.358	CCDS10470.1	16	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649801	0.67358	.	.	ENSG00000185883	ENST00000330398	T	0.50813	0.73	5.08	5.08	0.68730	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.91300	3.195	0.80722	D	1	P	0.39624	0.681	P	0.55999	0.789	T	0.79315	-0.1854	10	0.87932	D	0	-10.3241	17.1119	0.86678	0.0:0.0:1.0:0.0	.	120	P27449	VATL_HUMAN	C	120	ENSP00000329757:G120C	ENSP00000329757:G120C	G	+	1	0	ATP6V0C	2509637	1.000000	0.71417	0.990000	0.47175	0.068000	0.16541	9.752000	0.98900	2.383000	0.81215	0.485000	0.47835	GGC	ATP6V0C	-	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu	ENSG00000185883		0.687	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0C	HGNC	protein_coding	OTTHUMT00000250810.1		0.00	19	0	G	NM_001694		2569636	+1			no_errors	ENST00000330398	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
BCR	613	genome.wustl.edu	37	22	23596130	23596130	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:23596130A>T	ENST00000305877.8	+	2	2175	c.1424A>T	c.(1423-1425)gAt>gTt	p.D475V	BCR_ENST00000359540.3_Missense_Mutation_p.D475V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	475					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGCAGCCGGGATGCGCTGGTC	0.672			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													30.0	24.0	26.0					22																	23596130		2197	4291	6488	SO:0001583	missense	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1424A>T	22.37:g.23596130A>T	ENSP00000303507:p.Asp475Val		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.D475V	ENST00000305877.8	37	c.1424	CCDS13806.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.877484|3.877484	0.72294|0.72294	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000305877;ENST00000359540|ENST00000334149	T;T|.	0.30448|.	1.57;1.53|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Dbl homology (DH) domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47967|0.47967	0.1474|0.1474	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;D;B|.	0.55800|.	0.251;0.973;0.011|.	B;P;B|.	0.56916|.	0.247;0.809;0.018|.	T|T	0.36456|0.36456	-0.9747|-0.9747	10|6	0.62326|0.09590	D|T	0.03|0.72	.|.	13.8431|13.8431	0.63451|0.63451	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	64;475;475|.	B4E065;P11274-2;P11274|.	.;.;BCR_HUMAN|.	V|L	475|140	ENSP00000303507:D475V;ENSP00000352535:D475V|.	ENSP00000303507:D475V|ENSP00000335450:M140L	D|M	+|+	2|1	0|0	BCR|BCR	21926130|21926130	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.426000|0.426000	0.31534|0.31534	7.927000|7.927000	0.87577|0.87577	2.015000|2.015000	0.59207|0.59207	0.482000|0.482000	0.46254|0.46254	GAT|ATG	BCR	-	superfamily_DH-domain	ENSG00000186716		0.672	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	-	0.00	31	0	A	NM_004327		23596130	+1	tier1	-	no_errors	ENST00000305877	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.997	T
BET1L	51272	genome.wustl.edu	37	11	180261	180261	+	Silent	SNP	A	A	T	rs201966829	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:180261A>T	ENST00000410108.1	-	4	373	c.312T>A	c.(310-312)gcT>gcA	p.A104A	RP11-304M2.3_ENST00000527297.1_RNA					Bet1 golgi vesicular membrane trafficking protein-like														all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAGTTGAAGCTCCTCGCT	0.587											OREG0020655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-|||	264	0.0527157	0.0219	0.0389	5008	,	,		5197	0.1369		0.0119	False		,,,				2504	0.0593																0																																										SO:0001819	synonymous_variant	0			AF234160	CCDS7689.1, CCDS41582.1	11p15.5	2013-03-08	2013-03-08		ENSG00000177951	ENSG00000177951			19348	protein-coding gene	gene with protein product	"""golgi integral membrane protein 3"""	615417	"""blocked early in transport 1 homolog (S. cerevisiae) like"", ""blocked early in transport 1 homolog (S. cerevisiae)-like"""			9242691, 15004235	Standard	NM_016526		Approved	GS15, GOLIM3	uc001loe.2	Q9NYM9	OTTHUMG00000119071	ENST00000410108.1:c.312T>A	11.37:g.180261A>T		586		Silent	SNP	pfscan_T_SNARE_dom	p.A104	ENST00000410108.1	37	c.312		11																																																																																			BET1L	-	NULL	ENSG00000177951		0.587	BET1L-005	PUTATIVE	basic	protein_coding	BET1L	HGNC	protein_coding	OTTHUMT00000335359.1	-	0.00	14	0	A	NM_016526		180261	-1	tier1	rs201966829	no_errors	ENST00000410108	ensembl	human	putative	74_37	silent	50.00	4	4	SNP	0.020	T
C11orf87	399947	genome.wustl.edu	37	11	109294496	109294496	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:109294496G>A	ENST00000327419.6	+	2	540	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	46						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGGCACCTGCATCACGCAG	0.647																																																	0													120.0	95.0	103.0					11																	109294496		2201	4298	6499	SO:0001583	missense	0			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.137G>A	11.37:g.109294496G>A	ENSP00000331581:p.Cys46Tyr		B4E169	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.C46Y	ENST00000327419.6	37	c.137	CCDS31672.1	11	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420962	0.62622	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	U	0.000011	T	0.65565	0.2703	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.70443	-0.4870	9	0.87932	D	0	.	15.4939	0.75634	0.0:0.0:1.0:0.0	.	46	Q6NUJ2	CK087_HUMAN	Y	46	.	ENSP00000331581:C46Y	C	+	2	0	C11orf87	108799706	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.503000	0.90509	2.307000	0.77673	0.462000	0.41574	TGC	C11orf87	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000185742		0.647	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf87	HGNC	protein_coding	OTTHUMT00000390403.1	-	0.00	40	0	G	NM_207645		109294496	+1	tier1	-	no_errors	ENST00000327419	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A
DPAGT1	1798	genome.wustl.edu	37	11	118981761	118981761	+	5'Flank	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:118981761G>A	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Splice_Site|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCTCTCTGCAGAGAGGTGAAG	0.562																																																	0													133.0	132.0	132.0					11																	118981761		2200	4295	6495	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981761G>A	Exception_encountered		O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	-	e5-1	ENST00000409993.2	37	c.682-1	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239274	0.22711	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5051	0.84270	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486971	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	3.750000	0.55157	2.365000	0.80145	0.462000	0.41574	.	C2CD2L	-	-	ENSG00000172375		0.562	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	-	0.00	26	0	G	NM_001382		118981761	+1	tier1	-	no_errors	ENST00000336702	ensembl	human	known	74_37	splice_site	50.00	9	9	SNP	1.000	A
C6	729	genome.wustl.edu	37	5	41160290	41160290	+	Silent	SNP	G	G	C	rs202107773		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:41160290G>C	ENST00000263413.3	-	11	1902	c.1638C>G	c.(1636-1638)ggC>ggG	p.G546G	C6_ENST00000337836.5_Silent_p.G546G|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463																																																	0													155.0	148.0	150.0					5																	41160290		2203	4300	6503	SO:0001819	synonymous_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1638C>G	5.37:g.41160290G>C				Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.G546	ENST00000263413.3	37	c.1638	CCDS3936.1	5																																																																																			C6	-	NULL	ENSG00000039537		0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0.00	69	0	G			41160290	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	silent	13.48	77	12	SNP	0.828	C
CCDC30	728621	genome.wustl.edu	37	1	42948563	42948563	+	Intron	DEL	A	A	-	rs202122677	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:42948563delA	ENST00000428554.2	+	4	746				CCDC30_ENST00000475614.2_3'UTR			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAACATGAGAAAAAAAAAAA	0.363													|||unknown(HR)	839	0.167532	0.1573	0.1556	5008	,	,		20659	0.1746		0.1998	False		,,,				2504	0.1493																0																																										SO:0001627	intron_variant	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000428554.2:c.-398+76A>-	1.37:g.42948563delA			Q14F06|Q5VVM5	RNA	DEL	-	NULL	ENST00000428554.2	37	NULL	CCDS30690.1	1																																																																																			CCDC30	-	-	ENSG00000186409		0.363	CCDC30-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding			0.00	20	0	A	NM_025030		42948563	+1	tier1		no_errors	ENST00000475614	ensembl	human	known	74_37	rna	17.24	24	5	DEL	0.003	-
CCDC85A	114800	genome.wustl.edu	37	2	56420246	56420246	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:56420246C>T	ENST00000407595.2	+	2	1413	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	304	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCCCCGAAACGCTGCCCAAG	0.647																																																	0													61.0	75.0	70.0					2																	56420246		2051	4190	6241	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.911C>T	2.37:g.56420246C>T	ENSP00000384040:p.Thr304Met			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.T304M	ENST00000407595.2	37	c.911	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592850	0.13875	.	.	ENSG00000055813	ENST00000407595	T	0.49720	0.77	5.35	3.11	0.35812	.	0.512963	0.22554	N	0.058552	T	0.35189	0.0923	L	0.47716	1.5	0.37720	D	0.924885	B	0.24882	0.113	B	0.11329	0.006	T	0.21381	-1.0247	10	0.45353	T	0.12	-26.0238	5.1804	0.15158	0.1533:0.6468:0.0:0.1999	.	304	Q96PX6	CC85A_HUMAN	M	304	ENSP00000384040:T304M	ENSP00000384040:T304M	T	+	2	0	CCDC85A	56273750	0.990000	0.36364	0.290000	0.24890	0.500000	0.33767	2.912000	0.48782	0.386000	0.24997	0.591000	0.81541	ACG	CCDC85A	-	NULL	ENSG00000055813		0.647	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1		0.00	20	0	C			56420246	+1			no_errors	ENST00000407595	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.524	T
CD109	135228	genome.wustl.edu	37	6	74446224	74446224	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:74446224A>G	ENST00000287097.5	+	5	738	c.626A>G	c.(625-627)cAa>cGa	p.Q209R	CD109_ENST00000437994.2_Missense_Mutation_p.Q209R|CD109_ENST00000422508.2_Missense_Mutation_p.Q132R			Q6YHK3	CD109_HUMAN	CD109 molecule	209					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAAGTTCAAGTGAATGTG	0.363																																																	0													129.0	139.0	135.0					6																	74446224		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.626A>G	6.37:g.74446224A>G	ENSP00000287097:p.Gln209Arg		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.Q209R	ENST00000287097.5	37	c.626	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583403	0.28268	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.73047	-0.71;-0.71;-0.71	4.65	3.51	0.40186	Alpha-2-macroglobulin, N-terminal (1);	1.547870	0.04423	U	0.367959	T	0.41096	0.1144	L	0.27053	0.805	0.27765	N	0.943695	B;B;B;B	0.10296	0.003;0.001;0.001;0.0	B;B;B;B	0.11329	0.002;0.002;0.003;0.006	T	0.21075	-1.0256	10	0.31617	T	0.26	.	9.6861	0.40100	0.9113:0.0:0.0887:0.0	.	132;209;209;209	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	209;132;209	ENSP00000388062:Q209R;ENSP00000404475:Q132R;ENSP00000287097:Q209R	ENSP00000287097:Q209R	Q	+	2	0	CD109	74502945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.071000	0.50041	2.064000	0.61679	0.482000	0.46254	CAA	CD109	-	pfam_A2M_N	ENSG00000156535		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0.00	23	0	A	NM_133493		74446224	+1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	G
CD53	963	genome.wustl.edu	37	1	111441937	111441937	+	3'UTR	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:111441937G>T	ENST00000271324.5	+	0	892				CD53_ENST00000429072.2_3'UTR|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule						positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TCCCTTTTTAGGTCCCTGTCT	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.*120G>T	1.37:g.111441937G>T			B2R905|Q5U0D6	RNA	SNP	-	NULL	ENST00000271324.5	37	NULL	CCDS829.1	1																																																																																			CD53	-	-	ENSG00000143119		0.483	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD53	HGNC	protein_coding	OTTHUMT00000032931.1	-	0.00	20	0	G	NM_000560		111441937	+1	tier1	-	no_errors	ENST00000464329	ensembl	human	known	74_37	rna	25.00	27	9	SNP	0.000	T
CEACAM20	125931	genome.wustl.edu	37	19	45015728	45015728	+	RNA	SNP	C	C	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:45015728C>A	ENST00000454753.1	-	0	1857							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGGTGGTTGCATCTGGGGAA	0.448																																																	0													42.0	41.0	42.0					19																	45015728		1855	4086	5941			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015728C>A				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.448	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	-	0.00	40	0	C	NM_198444		45015728	-1	tier1	-	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	14.00	43	7	SNP	0.001	A
CHST3	9469	genome.wustl.edu	37	10	73768109	73768109	+	Silent	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:73768109G>A	ENST00000373115.4	+	3	1757	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	440					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CCCAGGTGGTGCAGGCCGCCT	0.677																																																	0													20.0	17.0	18.0					10																	73768109		2173	4255	6428	SO:0001819	synonymous_variant	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1320G>A	10.37:g.73768109G>A			O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.V440	ENST00000373115.4	37	c.1320	CCDS7312.1	10																																																																																			CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.677	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0.00	35	0	G	NM_004273		73768109	+1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.986	A
TMEM127	55654	genome.wustl.edu	37	2	96934194	96934194	+	5'Flank	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:96934194G>T	ENST00000258439.3	-	0	0				CIAO1_ENST00000488633.1_Splice_Site|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCTTCCCCCAGCTCTTAGCTT	0.483																																																	0													111.0	111.0	111.0					2																	96934194		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96934194G>T	Exception_encountered		D3DXH0	Splice_Site	SNP	-	e5-1	ENST00000258439.3	37	c.490-1	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385654	0.82792	.	.	ENSG00000144021	ENST00000488633	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5946	0.88007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIAO1	96297921	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.460000	0.97641	2.756000	0.94617	0.563000	0.77884	.	CIAO1	-	-	ENSG00000144021		0.483	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIAO1	HGNC	protein_coding	OTTHUMT00000252845.3	-	0.00	55	0	G	NM_017849		96934194	+1	tier1	-	no_errors	ENST00000488633	ensembl	human	known	74_37	splice_site	29.85	47	20	SNP	1.000	T
CLCN2	1181	genome.wustl.edu	37	3	184075627	184075627	+	Silent	SNP	G	G	A	rs370199115		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:184075627G>A	ENST00000265593.4	-	6	804	c.633C>T	c.(631-633)atC>atT	p.I211I	CLCN2_ENST00000434054.2_Silent_p.I167I|CLCN2_ENST00000344937.7_Silent_p.I211I|CLCN2_ENST00000475279.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.I211I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	211					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACATGCTTGCGATATGCACAA	0.637																																																	0								A	,,,	1,4405	822.1+/-416.4	0,1,2202	37.0	39.0	38.0		633,501,633,633	-10.0	0.6	3		38	1,8599	816.6+/-406.9	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,	211/882,167/855,211/870,211/899	184075627	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.633C>T	3.37:g.184075627G>A			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.I211	ENST00000265593.4	37	c.633	CCDS3263.1	3																																																																																			CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0.00	53	0	G			184075627	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	silent	24.32	56	18	SNP	0.229	A
COL14A1	7373	genome.wustl.edu	37	8	121262859	121262859	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:121262859C>T	ENST00000297848.3	+	22	2876	c.2606C>T	c.(2605-2607)cCt>cTt	p.P869L	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.P869L|COL14A1_ENST00000247781.3_Missense_Mutation_p.P774L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.P869R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTTTAGTTCCTGGTCCAACA	0.383																																																	1	Substitution - Missense(1)	lung(1)											99.0	92.0	94.0					8																	121262859		2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2606C>T	8.37:g.121262859C>T	ENSP00000297848:p.Pro869Leu			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P869L	ENST00000297848.3	37	c.2606	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443025	0.43326	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.73	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290083	0.38663	N	0.001614	T	0.48409	0.1498	L	0.49350	1.555	0.80722	D	1	B;B	0.25521	0.128;0.027	B;B	0.26310	0.068;0.029	T	0.41645	-0.9497	10	0.30078	T	0.28	.	15.2456	0.73504	0.0:0.9324:0.0:0.0676	.	869;869	Q05707-2;Q05707	.;COEA1_HUMAN	L	869;869;774;682	ENSP00000311809:P869L;ENSP00000297848:P869L;ENSP00000247781:P774L;ENSP00000409461:P682L	ENSP00000247781:P774L	P	+	2	0	COL14A1	121332040	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.244000	0.78228	1.575000	0.49775	0.655000	0.94253	CCT	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	35	0	C	NM_021110		121262859	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T
COLEC11	78989	genome.wustl.edu	37	2	3653823	3653823	+	Intron	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:3653823C>T	ENST00000349077.4	+	2	233				COLEC11_ENST00000402922.1_Silent_p.C14C|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Intron|COLEC11_ENST00000402794.1_Silent_p.C14C|COLEC11_ENST00000236693.7_Intron|COLEC11_ENST00000404205.1_Silent_p.C14C|AC010907.2_ENST00000456450.1_RNA|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000403096.3_Silent_p.C14C	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11						developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GTCTTCCCTGCGCCCTGCCAG	0.647																																																	0																																										SO:0001627	intron_variant	0			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.130+1763C>T	2.37:g.3653823C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C14	ENST00000349077.4	37	c.42	CCDS1649.1	2																																																																																			COLEC11	-	NULL	ENSG00000118004		0.647	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	-	0.00	114	0	C	NM_024027		3653823	+1	tier1	-	no_errors	ENST00000403096	ensembl	human	putative	74_37	silent	19.48	122	30	SNP	0.002	T
CRELD2	79174	genome.wustl.edu	37	22	50316310	50316310	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:50316310G>A	ENST00000328268.4	+	6	717	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	CRELD2_ENST00000404488.3_Missense_Mutation_p.G264S|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.G215S|CRELD2_ENST00000403427.3_Missense_Mutation_p.G215S	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	215						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGACTGCGGCGAGTGTGA	0.682																																																	0													45.0	33.0	37.0					22																	50316310		2185	4283	6468	SO:0001583	missense	0			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.643G>A	22.37:g.50316310G>A	ENSP00000332223:p.Gly215Ser		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G264S	ENST00000328268.4	37	c.790	CCDS14082.1	22	.	.	.	.	.	.	.	.	.	.	G	5.781	0.328403	0.10956	.	.	ENSG00000184164	ENST00000450207;ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	D;D;D;D;D	0.97209	-4.29;-2.18;-2.18;-2.18;-2.18	4.13	-8.25	0.01025	Growth factor, receptor (1);	2.454300	0.01520	N	0.018308	D	0.83501	0.5268	N	0.00670	-1.27	0.09310	N	1	B;B;B;B;B;B	0.27140	0.055;0.169;0.112;0.123;0.041;0.088	B;B;B;B;B;B	0.20767	0.007;0.031;0.01;0.009;0.004;0.006	D	0.84507	0.0620	10	0.09084	T	0.74	.	5.1588	0.15050	0.5225:0.273:0.1189:0.0856	.	215;264;215;215;215;215	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;.;CREL2_HUMAN;.	S	215;264;215;215;215	ENSP00000387769:G215S;ENSP00000383938:G264S;ENSP00000332223:G215S;ENSP00000386034:G215S;ENSP00000384111:G215S	ENSP00000332223:G215S	G	+	1	0	CRELD2	48702314	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-1.408000	0.02485	-2.769000	0.00366	-0.145000	0.13849	GGC	CRELD2	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000184164		0.682	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CRELD2	HGNC	protein_coding	OTTHUMT00000317409.1	-	0.00	62	0	G	NM_024324		50316310	+1	tier1	-	no_errors	ENST00000404488	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.000	A
DDR1	780	genome.wustl.edu	37	6	30862388	30862388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:30862388C>T	ENST00000324771.8	+	13	2001	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q485*|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q503*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q485*|DDR1_ENST00000361741.4_Silent_p.T188T|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q485*			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	485	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCCCCGTACCAGGAGCCCCG	0.622																																																	0													96.0	95.0	95.0					6																	30862388		2203	4300	6503	SO:0001587	stop_gained	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1453C>T	6.37:g.30862388C>T	ENSP00000318217:p.Gln485*		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q485*	ENST00000324771.8	37	c.1453	CCDS34385.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.714287|9.714287	0.99245|0.99245	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000514434|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.226724	.|0.37623	.|N	.|0.002007	T|.	0.46502|.	0.1396|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36456|.	-0.9747|.	4|.	.|0.21540	.|T	.|0.41	.|.	13.0234|13.0234	0.58802|0.58802	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	13|485;485;485;485;485;485;485;485;503;485;485	.|.	.|ENSP00000318217:Q485X	P|Q	+|+	2|1	0|0	DDR1|DDR1	30970367|30970367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.623000|5.623000	0.67757|0.67757	2.459000|2.459000	0.83118|0.83118	0.552000|0.552000	0.68991|0.68991	CCA|CAG	DDR1	-	NULL	ENSG00000204580		0.622	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	-	0.00	43	0	C	NM_013994		30862388	+1	tier1	-	no_errors	ENST00000376575	ensembl	human	known	74_37	nonsense	32.89	51	25	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32486663	32486663	+	Silent	SNP	C	C	T	rs143810752		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chrX:32486663C>T	ENST00000357033.4	-	23	3320	c.3114G>A	c.(3112-3114)gaG>gaA	p.E1038E	DMD_ENST00000378677.2_Silent_p.E1034E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1038					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGACAATGCTCAACCAGCT	0.388																																																	0								C	,,,,	0,3833		0,0,1631,571	62.0	54.0	57.0		3090,3114,2745,3102,2745	-2.8	0.0	X	dbSNP_134	57	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,,,,	1030/3678,1038/3686,915/3563,1034/3682,915/3563	32486663	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3114G>A	X.37:g.32486663C>T			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E1038	ENST00000357033.4	37	c.3114	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0.00	17	0	C	NM_004006		32486663	-1			no_errors	ENST00000357033	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.002	T
DNAH5	1767	genome.wustl.edu	37	5	13766149	13766149	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:13766149G>C	ENST00000265104.4	-	59	10141	c.10037C>G	c.(10036-10038)aCc>aGc	p.T3346S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3346	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAGGGCATGGTACAGCTTTT	0.483									Kartagener syndrome																																								0													129.0	125.0	127.0					5																	13766149		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10037C>G	5.37:g.13766149G>C	ENSP00000265104:p.Thr3346Ser		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T3346S	ENST00000265104.4	37	c.10037	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022465	0.08006	.	.	ENSG00000039139	ENST00000265104	T	0.56275	0.47	5.63	4.57	0.56435	Dynein heavy chain, coiled coil stalk (1);	0.628315	0.16463	N	0.213346	T	0.41743	0.1172	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12477	-1.0546	10	0.10902	T	0.67	.	15.4795	0.75514	0.0773:0.0:0.9227:0.0	.	3346	Q8TE73	DYH5_HUMAN	S	3346	ENSP00000265104:T3346S	ENSP00000265104:T3346S	T	-	2	0	DNAH5	13819149	0.103000	0.21917	0.010000	0.14722	0.391000	0.30476	1.328000	0.33758	2.660000	0.90430	0.558000	0.71614	ACC	DNAH5	-	NULL	ENSG00000039139		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0.00	24	0	G	NM_001369		13766149	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.004	C
DNAH8	1769	genome.wustl.edu	37	6	38743675	38743675	+	Missense_Mutation	SNP	C	C	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:38743675C>G	ENST00000359357.3	+	11	1513	c.1259C>G	c.(1258-1260)aCa>aGa	p.T420R	DNAH8_ENST00000441566.1_Missense_Mutation_p.T420R|DNAH8_ENST00000449981.2_Missense_Mutation_p.T637R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	420					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCAAGAAGGACAGAATTTGAC	0.303																																																	0													89.0	104.0	99.0					6																	38743675		2202	4282	6484	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1259C>G	6.37:g.38743675C>G	ENSP00000352312:p.Thr420Arg		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T420R	ENST00000359357.3	37	c.1259		6	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857086	0.17106	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55930	0.49;0.49;0.49	5.93	5.07	0.68467	Dynein heavy chain, domain-1 (1);	0.189361	0.44285	D	0.000475	T	0.19366	0.0465	N	0.11870	0.19	0.42755	D	0.993789	B	0.16603	0.018	B	0.25405	0.06	T	0.07673	-1.0760	10	0.24483	T	0.36	.	13.1004	0.59216	0.0:0.9257:0.0:0.0743	.	420	Q96JB1	DYH8_HUMAN	R	625;625;420;420	ENSP00000333363:T625R;ENSP00000352312:T420R;ENSP00000402294:T420R	ENSP00000333363:T625R	T	+	2	0	DNAH8	38851653	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.417000	0.52714	1.529000	0.49120	0.655000	0.94253	ACA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	31	0	C	NM_001206927		38743675	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	G
DOK1	1796	genome.wustl.edu	37	2	74784044	74784044	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:74784044A>T	ENST00000233668.5	+	5	1918	c.1249A>T	c.(1249-1251)Aca>Tca	p.T417S	LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.T278S	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	417	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTCGGAGCACAAAGCCCCT	0.607																																					Esophageal Squamous(36;520 860 12502 33616 51270)												0													132.0	136.0	135.0					2																	74784044		2203	4300	6503	SO:0001583	missense	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1249A>T	2.37:g.74784044A>T	ENSP00000233668:p.Thr417Ser		O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T417S	ENST00000233668.5	37	c.1249	CCDS1954.1	2	.	.	.	.	.	.	.	.	.	.	A	5.939	0.357219	0.11239	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.29655	1.56;1.56	5.09	-0.393	0.12438	.	0.859686	0.10009	N	0.727454	T	0.20495	0.0493	L	0.44542	1.39	0.54753	D	0.999983	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.16571	-1.0398	10	0.27785	T	0.31	-10.7049	2.9468	0.05848	0.5144:0.2783:0.0831:0.1242	.	406;417	B4DJN1;Q99704	.;DOK1_HUMAN	S	278;417	ENSP00000387016:T278S;ENSP00000233668:T417S	ENSP00000233668:T417S	T	+	1	0	DOK1	74637552	0.021000	0.18746	0.967000	0.41034	0.949000	0.60115	0.713000	0.25794	0.070000	0.16634	0.459000	0.35465	ACA	DOK1	-	NULL	ENSG00000115325		0.607	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	-	0.00	18	0	A	NM_001381		74784044	+1	tier1	-	no_errors	ENST00000233668	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.707	T
EBF1	1879	genome.wustl.edu	37	5	158158087	158158087	+	Missense_Mutation	SNP	C	C	T	rs200547458		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:158158087C>T	ENST00000313708.6	-	11	1397	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	EBF1_ENST00000517373.1_Missense_Mutation_p.R364H|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R341H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	372					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGGCAAACGCTCAGGGTC	0.448			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	61.0	61.0		1115	5.5	1.0	5		61	0,8600		0,0,4300	no	missense	EBF1	NM_024007.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	372/592	158158087	1,13005	2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1115G>A	5.37:g.158158087C>T	ENSP00000322898:p.Arg372His		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.R372H	ENST00000313708.6	37	c.1115	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.693244	0.96793	2.27E-4	0.0	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.89415	-2.51;-2.51;-2.51	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.83384	2.64	0.58432	D	0.999998	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	P;P;P;P	0.61275	0.73;0.481;0.73;0.886	D	0.94757	0.7932	10	0.87932	D	0	-3.5319	19.7818	0.96418	0.0:1.0:0.0:0.0	.	372;359;372;341	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	H	372;372;341;364	ENSP00000322898:R372H;ENSP00000370029:R341H;ENSP00000428020:R364H	ENSP00000322898:R372H	R	-	2	0	EBF1	158090665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.736000	0.93811	0.655000	0.94253	CGT	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0.00	32	0	C	NM_024007		158158087	-1	tier1	rs200547458	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	T
ELAVL4	1996	genome.wustl.edu	37	1	50610816	50610816	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:50610816T>G	ENST00000371823.4	+	2	421	c.197T>G	c.(196-198)tTc>tGc	p.F66C	ELAVL4_ENST00000357083.4_Missense_Mutation_p.F83C|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371821.1_Missense_Mutation_p.F71C|ELAVL4_ENST00000371819.1_Missense_Mutation_p.F71C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.F66C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.F69C|ELAVL4_ENST00000371824.1_Missense_Mutation_p.F66C	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGGAGTCTCTTCGGGAGCATT	0.433																																																	0													96.0	93.0	94.0					1																	50610816		2203	4300	6503	SO:0001583	missense	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.197T>G	1.37:g.50610816T>G	ENSP00000360888:p.Phe66Cys		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.F71C	ENST00000371823.4	37	c.212	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261016	0.80246	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82699	-0.0328	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	71;71;66;66;83;66;69	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	C	69;66;83;66;66;71;71	ENSP00000399939:F69C;ENSP00000360892:F66C;ENSP00000349594:F83C;ENSP00000360889:F66C;ENSP00000360888:F66C;ENSP00000360886:F71C;ENSP00000360884:F71C	ENSP00000349594:F83C	F	+	2	0	ELAVL4	50383403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000162374		0.433	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	-	0.00	28	0	T	NM_021952		50610816	+1	tier1	-	no_errors	ENST00000371821	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G
GCC2	9648	genome.wustl.edu	37	2	109128180	109128183	+	IGR	DEL	AGCC	AGCC	-	rs377582342		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	AGCC	AGCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:109128180_109128183delAGCC	ENST00000309863.6	+	0	7537				AC012487.2_ENST00000440975.1_RNA|AC012487.2_ENST00000322353.3_RNA	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2						Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGCAGAGAAAGCCAGCCAAGAGA	0.461																																																	0																																										SO:0001628	intergenic_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214		2.37:g.109128184_109128187delAGCC			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	RNA	DEL	-	NULL	ENST00000309863.6	37	NULL	CCDS33268.1	2																																																																																			AC012487.2	-	-	ENSG00000214184		0.461	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214184	Clone_based_vega_gene	protein_coding	OTTHUMT00000358516.3		0.00	10	0	AGCC	NM_014635		109128183	-1			no_errors	ENST00000440975	ensembl	human	known	74_37	rna	39.39	20	13	DEL	0.002:0.001:0.001:0.002	0
EPS15	2060	genome.wustl.edu	37	1	51864773	51864773	+	Missense_Mutation	SNP	T	T	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:51864773T>G	ENST00000371733.3	-	20	2079	c.1983A>C	c.(1981-1983)caA>caC	p.Q661H	EPS15_ENST00000371730.2_Missense_Mutation_p.Q527H|EPS15_ENST00000396122.4_Missense_Mutation_p.Q338H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	661	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GATCAGTAGATTGCCTGAAGA	0.378			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											132.0	124.0	127.0					1																	51864773		2203	4300	6503	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1983A>C	1.37:g.51864773T>G	ENSP00000360798:p.Gln661His		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.Q661H	ENST00000371733.3	37	c.1983	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890993	0.52014	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.22743	1.94;1.94;1.94	5.44	-4.2	0.03823	.	.	.	.	.	T	0.38188	0.1031	M	0.62723	1.935	0.25692	N	0.98568	D;D;D	0.71674	0.991;0.995;0.998	P;D;D	0.68192	0.687;0.927;0.956	T	0.38045	-0.9679	9	0.40728	T	0.16	.	14.6865	0.69052	0.0:0.4327:0.0:0.5673	.	527;661;347	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	H	527;661;338	ENSP00000360795:Q527H;ENSP00000360798:Q661H;ENSP00000379428:Q338H	ENSP00000360795:Q527H	Q	-	3	2	EPS15	51637361	0.004000	0.15560	0.961000	0.40146	0.963000	0.63663	-1.762000	0.01803	-0.674000	0.05253	-0.415000	0.06103	CAA	EPS15	-	NULL	ENSG00000085832		0.378	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	-	0.00	23	0	T	NM_001981		51864773	-1	tier1	-	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	52.08	23	25	SNP	0.792	G
ESPL1	9700	genome.wustl.edu	37	12	53677897	53677897	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:53677897G>T	ENST00000257934.4	+	17	3224	c.3133G>T	c.(3133-3135)Gat>Tat	p.D1045Y	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1045Y	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1045					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.D1045N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAATGACATTGATCTCTGTCA	0.542																																					Colon(53;1069 1201 2587 5382)												1	Substitution - Missense(1)	urinary_tract(1)											231.0	209.0	216.0					12																	53677897		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3133G>T	12.37:g.53677897G>T	ENSP00000257934:p.Asp1045Tyr			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.D1045Y	ENST00000257934.4	37	c.3133	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106560	0.77096	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17528	2.27;2.27	5.55	5.55	0.83447	.	0.148867	0.64402	D	0.000013	T	0.39682	0.1087	M	0.70595	2.14	0.41599	D	0.988844	D;D	0.89917	1.0;0.998	D;D	0.73380	0.98;0.936	T	0.11179	-1.0598	10	0.72032	D	0.01	.	12.5448	0.56193	0.0:0.1667:0.8333:0.0	.	256;1045	B4DRU1;Q14674	.;ESPL1_HUMAN	Y	1045;720;1045	ENSP00000257934:D1045Y;ENSP00000449831:D1045Y	ENSP00000257934:D1045Y	D	+	1	0	ESPL1	51964164	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	6.194000	0.72082	2.894000	0.99253	0.655000	0.94253	GAT	ESPL1	-	NULL	ENSG00000135476		0.542	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0.00	59	0	G	NM_012291		53677897	+1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.993	T
FAT2	2196	genome.wustl.edu	37	5	150923097	150923097	+	Missense_Mutation	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:150923097T>C	ENST00000261800.5	-	9	7603	c.7591A>G	c.(7591-7593)Ata>Gta	p.I2531V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2531	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGGGTTTATGGAGAACTTC	0.433																																																	0													143.0	146.0	145.0					5																	150923097		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7591A>G	5.37:g.150923097T>C	ENSP00000261800:p.Ile2531Val		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I2531V	ENST00000261800.5	37	c.7591	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	11.03	1.518556	0.27211	.	.	ENSG00000086570	ENST00000261800	T	0.58506	0.33	5.34	4.19	0.49359	Cadherin (4);Cadherin-like (1);	0.084928	0.50627	D	0.000106	T	0.39911	0.1096	N	0.21448	0.665	0.50467	D	0.999877	P	0.39443	0.674	B	0.36418	0.224	T	0.30504	-0.9976	10	0.33940	T	0.23	.	10.5653	0.45169	0.0:0.0755:0.0:0.9245	.	2531	Q9NYQ8	FAT2_HUMAN	V	2531	ENSP00000261800:I2531V	ENSP00000261800:I2531V	I	-	1	0	FAT2	150903290	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.044000	0.64214	2.021000	0.59480	0.379000	0.24179	ATA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	41	0	T	NM_001447		150923097	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	62.50	18	30	SNP	1.000	C
FBXO10	26267	genome.wustl.edu	37	9	37518154	37518154	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:37518154C>T	ENST00000432825.2	-	9	2530	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	FBXO10_ENST00000541829.1_Missense_Mutation_p.G353R|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	828					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCTGCAGCCCGCTGCCCCGG	0.567																																																	0													73.0	77.0	76.0					9																	37518154		2035	4180	6215	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2482G>A	9.37:g.37518154C>T	ENSP00000403802:p.Gly828Arg		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.G828R	ENST00000432825.2	37	c.2482	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737201	0.89482	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.86627	-2.15;-2.15	5.37	4.48	0.54585	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	L	0.32530	0.975	0.80722	D	1	D;P;P	0.58268	0.982;0.956;0.956	P;P;P	0.48795	0.55;0.59;0.59	D	0.85895	0.1431	10	0.87932	D	0	-17.3792	13.0729	0.59072	0.0:0.9214:0.0:0.0786	.	707;353;828	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	R	828;353	ENSP00000403802:G828R;ENSP00000441307:G353R	ENSP00000403802:G828R	G	-	1	0	FBXO10	37508154	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.070000	0.76763	1.266000	0.44231	0.655000	0.94253	GGG	FBXO10	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000147912		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0.00	43	0	C			37518154	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T
FGF9	2254	genome.wustl.edu	37	13	22246309	22246309	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr13:22246309G>T	ENST00000382353.5	+	1	788	c.258G>T	c.(256-258)agG>agT	p.R86S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	86					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGGGAACCAGGAAAGACCACA	0.463																																					Melanoma(195;1939 2127 12623 13963 52730)												0													77.0	78.0	78.0					13																	22246309		2203	4300	6503	SO:0001583	missense	0			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.258G>T	13.37:g.22246309G>T	ENSP00000371790:p.Arg86Ser		A8K427|Q3SY32	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R86S	ENST00000382353.5	37	c.258	CCDS9298.1	13	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779867	0.49891	.	.	ENSG00000102678	ENST00000382353	D	0.81579	-1.51	5.24	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.78049	2.395	0.54753	D	0.99998	B	0.28552	0.215	B	0.39299	0.296	T	0.77691	-0.2493	10	0.87932	D	0	.	7.9881	0.30224	0.1454:0.1326:0.722:0.0	.	86	P31371	FGF9_HUMAN	S	86	ENSP00000371790:R86S	ENSP00000371790:R86S	R	+	3	2	FGF9	21144309	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.158000	0.50723	0.204000	0.20548	0.555000	0.69702	AGG	FGF9	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000102678		0.463	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	-	0.00	61	0	G			22246309	+1	tier1	-	no_errors	ENST00000382353	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
FIP1L1	81608	genome.wustl.edu	37	4	54249970	54249970	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:54249970A>T	ENST00000337488.6	+	5	453	c.259A>T	c.(259-261)Agt>Tgt	p.S87C	FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.S72C|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S72C|FIP1L1_ENST00000507166.1_Missense_Mutation_p.S87C|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S72C	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	87	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			tgatagtgatagtgacagcga	0.318			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													128.0	116.0	120.0					4																	54249970		2203	4300	6503	SO:0001583	missense	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.259A>T	4.37:g.54249970A>T	ENSP00000336752:p.Ser87Cys		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.S87C	ENST00000337488.6	37	c.259	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361002	0.82353	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.80123	-1.34	4.87	4.87	0.63330	.	0.125324	0.56097	D	0.000038	D	0.86590	0.5969	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	0.998;0.969;0.996;1.0	D;P;P;D	0.70935	0.937;0.73;0.867;0.971	D	0.87967	0.2734	10	0.72032	D	0.01	-15.4006	14.4242	0.67204	1.0:0.0:0.0:0.0	.	72;72;87;72	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	C	87;72;72;72;87	ENSP00000423325:S87C	ENSP00000302993:S72C	S	+	1	0	FIP1L1	53944727	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.250000	0.89835	1.943000	0.56356	0.402000	0.26972	AGT	FIP1L1	-	NULL	ENSG00000145216		0.318	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	-	0.00	40	0	A	NM_030917		54249970	+1	tier1	-	no_errors	ENST00000337488	ensembl	human	known	74_37	missense	24.39	62	20	SNP	1.000	T
GH1	2688	genome.wustl.edu	37	17	61995831	61995831	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:61995831G>A	ENST00000323322.5	-	2	88	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.L16F|GH1_ENST00000351388.4_Missense_Mutation_p.L16F|GH1_ENST00000342364.4_Missense_Mutation_p.L16F	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	16			L -> P (in IGHD1B; suppresses secretion). {ECO:0000269|PubMed:12655557}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCAGGCAGAGCAGGCCAAAA	0.622																																																	0													101.0	105.0	104.0					17																	61995831		2203	4300	6503	SO:0001583	missense	0			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.46C>T	17.37:g.61995831G>A	ENSP00000312673:p.Leu16Phe		A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.L16F	ENST00000323322.5	37	c.46	CCDS11653.1	17	.	.	.	.	.	.	.	.	.	.	g	12.02	1.813254	0.32053	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	2.86	1.87	0.25490	.	0.417567	0.23964	N	0.042834	D	0.97099	0.9052	M	0.89163	3.01	0.28064	N	0.932866	D;B;D;D;D	0.76494	0.999;0.035;0.972;0.998;0.997	D;B;D;D;D	0.83275	0.996;0.02;0.968;0.986;0.986	D	0.90929	0.4789	10	0.87932	D	0	.	5.079	0.14647	0.1701:0.0:0.8299:0.0	.	16;16;16;16;16	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	F	16	ENSP00000312673:L16F;ENSP00000408486:L16F;ENSP00000343791:L16F;ENSP00000339278:L16F	ENSP00000312673:L16F	L	-	1	0	GH1	59349563	1.000000	0.71417	0.998000	0.56505	0.118000	0.20060	3.729000	0.54999	1.594000	0.50039	0.298000	0.19748	CTC	GH1	-	pfam_Somatotropin	ENSG00000259384		0.622	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH1	HGNC	protein_coding	OTTHUMT00000417708.1	-	0.00	40	0	G	NM_000515		61995831	-1	tier1	-	no_errors	ENST00000323322	ensembl	human	known	74_37	missense	9.68	56	6	SNP	0.940	A
GPR142	350383	genome.wustl.edu	37	17	72367895	72367895	+	Missense_Mutation	SNP	C	C	T	rs552309071		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:72367895C>T	ENST00000335666.4	+	4	593	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	182						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTGGCCCTGGCGCGCCTTGCC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0																0													47.0	41.0	43.0					17																	72367895		2203	4300	6503	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.545C>T	17.37:g.72367895C>T	ENSP00000335158:p.Ala182Val		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A182V	ENST00000335666.4	37	c.545	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752960	0.15778	.	.	ENSG00000257008	ENST00000335666	T	0.68331	-0.32	4.56	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.431479	0.24742	N	0.035976	T	0.66626	0.2808	L	0.44542	1.39	0.24752	N	0.992974	P;D	0.63880	0.729;0.993	B;P	0.54889	0.183;0.763	T	0.62081	-0.6929	10	0.16420	T	0.52	-3.6999	15.3208	0.74120	0.0:0.6048:0.3952:0.0	.	182;1144	Q7Z601;Q8NGB0	GP142_HUMAN;.	V	182	ENSP00000335158:A182V	ENSP00000335158:A182V	A	+	2	0	GPR142	69879490	1.000000	0.71417	0.998000	0.56505	0.396000	0.30629	0.820000	0.27323	0.220000	0.20860	-0.255000	0.11280	GCG	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000257008		0.627	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	-	0.00	31	0	C	NM_181790		72367895	+1	tier1	-	no_errors	ENST00000335666	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T
HDAC3	8841	genome.wustl.edu	37	5	141008140	141008140	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:141008140C>T	ENST00000305264.3	-	8	756	c.677G>A	c.(676-678)gGc>gAc	p.G226D	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	226	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GTCATCAATGCCATCCCGCAG	0.527																																																	0													120.0	101.0	108.0					5																	141008140		2203	4300	6503	SO:0001583	missense	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.677G>A	5.37:g.141008140C>T	ENSP00000302967:p.Gly226Asp		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.G226D	ENST00000305264.3	37	c.677	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823625	0.90873	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	T;T	0.78246	-1.16;1.19	5.96	5.96	0.96718	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92425	0.5949	10	0.72032	D	0.01	-28.1684	19.989	0.97359	0.0:1.0:0.0:0.0	.	226	O15379	HDAC3_HUMAN	D	226;151	ENSP00000302967:G226D;ENSP00000429099:G151D	ENSP00000302967:G226D	G	-	2	0	HDAC3	140988324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.830000	0.97506	0.585000	0.79938	GGC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	-	0.00	39	0	C	NM_003883		141008140	-1	tier1	-	no_errors	ENST00000305264	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	64005610	64005610	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:64005610C>T	ENST00000443617.2	-	23	4492	c.4405G>A	c.(4405-4407)Gaa>Aaa	p.E1469K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1469					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AACTGTCCTTCTTCTCTTCGC	0.488																																																	0													90.0	89.0	89.0					15																	64005610		2029	4180	6209	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4405G>A	15.37:g.64005610C>T	ENSP00000390158:p.Glu1469Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1469K	ENST00000443617.2	37	c.4405	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892149	0.72524	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.26067	1.76	5.23	5.23	0.72850	.	0.203375	0.40469	N	0.001093	T	0.26521	0.0648	N	0.14661	0.345	0.48236	D	0.999611	D;B	0.54964	0.969;0.155	P;B	0.50192	0.634;0.021	T	0.08806	-1.0704	10	0.66056	D	0.02	.	19.1604	0.93529	0.0:1.0:0.0:0.0	.	453;1469	B4DKS2;Q15751	.;HERC1_HUMAN	K	1469;453	ENSP00000390158:E1469K	ENSP00000389613:E453K	E	-	1	0	HERC1	61792663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.599000	0.87857	0.655000	0.94253	GAA	HERC1	-	NULL	ENSG00000103657		0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	22	0	C	NM_003922		64005610	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	T
HOXA10	3206	genome.wustl.edu	37	7	27213291	27213291	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:27213291C>T	ENST00000283921.4	-	1	634	c.635G>A	c.(634-636)gGc>gAc	p.G212D	HOXA-AS4_ENST00000523790.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	212					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GCGGAAGTAGCCAGGCACTGG	0.761																																																	0													4.0	4.0	4.0					7																	27213291		1980	3858	5838	SO:0001583	missense	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.635G>A	7.37:g.27213291C>T	ENSP00000283921:p.Gly212Asp		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G212D	ENST00000283921.4	37	c.635	CCDS5410.2	7	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679627	0.68042	.	.	ENSG00000253293	ENST00000283921	T	0.58652	0.32	4.46	4.46	0.54185	.	3.605110	0.00792	N	0.001344	D	0.84009	0.5378	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.87932	D	0	.	17.1898	0.86876	0.0:1.0:0.0:0.0	.	212	P31260	HXA10_HUMAN	D	212	ENSP00000283921:G212D	ENSP00000283921:G212D	G	-	2	0	HOXA10	27179816	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.126000	0.77201	2.047000	0.60756	0.485000	0.47835	GGC	HOXA10	-	NULL	ENSG00000253293		0.761	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA10	HGNC	protein_coding	OTTHUMT00000358724.2	-	0.00	35	0	C			27213291	-1	tier1	-	no_errors	ENST00000283921	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	T
ITGA2	3673	genome.wustl.edu	37	5	52370296	52370296	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:52370296A>G	ENST00000296585.5	+	21	2796	c.2653A>G	c.(2653-2655)Aga>Gga	p.R885G		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	885					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGCTTTAAAGAGAGAACAACA	0.433																																																	0													169.0	139.0	149.0					5																	52370296		2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2653A>G	5.37:g.52370296A>G	ENSP00000296585:p.Arg885Gly		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R885G	ENST00000296585.5	37	c.2653	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	A	2.307	-0.358878	0.05138	.	.	ENSG00000164171	ENST00000296585	T	0.53206	0.63	5.01	2.48	0.30137	Integrin alpha-2 (1);	1.250090	0.05043	N	0.476690	T	0.36386	0.0965	L	0.29908	0.895	0.09310	N	1	B;B	0.19331	0.001;0.035	B;B	0.21708	0.005;0.036	T	0.24905	-1.0147	10	0.25106	T	0.35	.	6.3943	0.21603	0.616:0.3058:0.0782:0.0	.	885;885	E7ESP4;P17301	.;ITA2_HUMAN	G	885	ENSP00000296585:R885G	ENSP00000296585:R885G	R	+	1	2	ITGA2	52406053	0.499000	0.26083	0.126000	0.21872	0.178000	0.23041	1.121000	0.31283	0.411000	0.25702	0.528000	0.53228	AGA	ITGA2	-	pfam_Integrin_alpha-2	ENSG00000164171		0.433	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0.00	43	0	A	NM_002203		52370296	+1	tier1	-	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	48.94	24	23	SNP	0.115	G
ITSN1	6453	genome.wustl.edu	37	21	35257345	35257345	+	Splice_Site	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr21:35257345G>T	ENST00000381318.3	+	37	4965	c.4677G>T	c.(4675-4677)agG>agT	p.R1559S	ITSN1_ENST00000381285.4_Splice_Site_p.R1559S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Splice_Site_p.R1498S|ITSN1_ENST00000399367.3_Splice_Site_p.R1554S|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1559	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTGTCCAAGGACTGCCTGGG	0.463																																																	0													87.0	87.0	87.0					21																	35257345		2203	4300	6503	SO:0001630	splice_region_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4677-1G>T	21.37:g.35257345G>T			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R1559S	ENST00000381318.3	37	c.4677	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358297|4.358297	0.82243|0.82243	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	.|T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27	5.58|5.58	4.69|4.69	0.59074|0.59074	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82852|0.82852	0.5127|0.5127	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.996;0.996	.|D;D;D	.|0.85130	.|0.997;0.982;0.982	D|D	0.84405|0.84405	0.0562|0.0562	5|9	.|.	.|.	.|.	.|.	15.3852|15.3852	0.74691|0.74691	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	.|1498;1554;1559	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	Y|S	239|1559;1559;1488;1554;1498;95	.|ENSP00000370719:R1559S;ENSP00000370685:R1559S;ENSP00000382301:R1554S;ENSP00000387377:R1498S;ENSP00000409800:R95S	.|.	D|R	+|+	1|3	0|2	ITSN1|ITSN1	34179215|34179215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.679000|3.679000	0.54634|0.54634	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|AGG	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000205726		0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0.00	55	0	G	NM_003024	Missense_Mutation	35257345	+1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T
KIAA0930	23313	genome.wustl.edu	37	22	45593679	45593679	+	Missense_Mutation	SNP	A	A	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:45593679A>C	ENST00000336156.5	-	9	1231	c.1166T>G	c.(1165-1167)aTt>aGt	p.I389S	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.I355S|KIAA0930_ENST00000251993.7_Missense_Mutation_p.I394S|KIAA0930_ENST00000443310.3_Missense_Mutation_p.I371S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	389										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ACCTGTTAAAATCCGATGCAG	0.572																																																	0													133.0	113.0	120.0					22																	45593679		2203	4300	6503	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.1166T>G	22.37:g.45593679A>C	ENSP00000336720:p.Ile389Ser		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	pfam_DUF2045	p.I394S	ENST00000336156.5	37	c.1181	CCDS33665.1	22	.	.	.	.	.	.	.	.	.	.	A	23.6	4.429739	0.83776	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	5.2	5.2	0.72013	.	0.108697	0.64402	D	0.000016	T	0.76842	0.4044	M	0.68952	2.095	0.80722	D	1	D;P;P;P	0.65815	0.995;0.87;0.956;0.926	D;B;P;P	0.70487	0.969;0.36;0.564;0.454	T	0.79878	-0.1617	9	0.87932	D	0	-25.9226	15.0706	0.72034	1.0:0.0:0.0:0.0	.	371;389;394;460	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	S	389;274;394;355;371	.	ENSP00000251993:I394S	I	-	2	0	KIAA0930	43972343	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	8.640000	0.91028	1.959000	0.56917	0.459000	0.35465	ATT	KIAA0930	-	NULL	ENSG00000100364		0.572	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	-	0.00	52	0	A	NM_001009880		45593679	-1	tier1	-	no_errors	ENST00000251993	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C
KIF3B	9371	genome.wustl.edu	37	20	30918046	30918046	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr20:30918046G>T	ENST00000375712.3	+	8	2238	c.2071G>T	c.(2071-2073)Gct>Tct	p.A691S	KIF3B_ENST00000418717.2_Missense_Mutation_p.A317S	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	691	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATTGGATGCGGCTCTGCAGGA	0.512																																																	0													89.0	84.0	86.0					20																	30918046		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2071G>T	20.37:g.30918046G>T	ENSP00000364864:p.Ala691Ser		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A691S	ENST00000375712.3	37	c.2071	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920363	0.92249	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.76839	-1.05;0.09	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.69523	2.12	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	D	0.88415	0.3024	10	0.66056	D	0.02	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	317;691	B4DSR5;O15066	.;KIF3B_HUMAN	S	691;317	ENSP00000364864:A691S;ENSP00000406287:A317S	ENSP00000364864:A691S	A	+	1	0	KIF3B	30381707	1.000000	0.71417	0.969000	0.41365	0.863000	0.49368	9.100000	0.94213	2.559000	0.86315	0.655000	0.94253	GCT	KIF3B	-	NULL	ENSG00000101350		0.512	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1		0.00	35	0	G	NM_004798		30918046	+1			no_errors	ENST00000375712	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
LDB1	8861	genome.wustl.edu	37	10	103870344	103870344	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:103870344G>A	ENST00000425280.1	-	6	809	c.467C>T	c.(466-468)tCc>tTc	p.S156F	LDB1_ENST00000361198.5_Missense_Mutation_p.S120F|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	156					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ACAGTCGAGGGACACAAAGTT	0.572																																																	0													96.0	67.0	77.0					10																	103870344		2203	4300	6503	SO:0001583	missense	0			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.467C>T	10.37:g.103870344G>A	ENSP00000392466:p.Ser156Phe		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.S156F	ENST00000425280.1	37	c.467	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463116	0.84425	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	N	0.03608	-0.345	0.80722	D	1	D;D	0.67145	0.996;0.98	D;P	0.79784	0.993;0.708	T	0.69075	-0.5241	9	0.49607	T	0.09	-16.2002	19.6758	0.95932	0.0:0.0:1.0:0.0	.	156;120	Q86U70;Q86U70-3	LDB1_HUMAN;.	F	120;156	.	ENSP00000354616:S120F	S	-	2	0	LDB1	103860334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.452000	0.97615	2.644000	0.89710	0.561000	0.74099	TCC	LDB1	-	NULL	ENSG00000198728		0.572	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		-	0.00	42	0	G	NM_001113407		103870344	-1	tier1	-	no_errors	ENST00000425280	ensembl	human	known	74_37	missense	59.09	18	26	SNP	1.000	A
LINC00969	440993	genome.wustl.edu	37	3	195398249	195398249	+	lincRNA	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:195398249G>A	ENST00000445430.1	+	0	1088									long intergenic non-protein coding RNA 969																		AGCACCGCTCGCCCTCACCTT	0.572																																																	0																																												0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195398249G>A				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			LINC00969	-	-	ENSG00000242086		0.572	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	HGNC	lincRNA	OTTHUMT00000341951.1		0.00	39	0	G			195398249	+1			no_errors	ENST00000453324	ensembl	human	known	74_37	rna	5.88	95	6	SNP	0.000	A
LINC00987	100499405	genome.wustl.edu	37	12	9395192	9395192	+	lincRNA	SNP	C	C	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:9395192C>G	ENST00000427111.3	+	0	2016					NR_036466.1				long intergenic non-protein coding RNA 987																		CTCTCCTAAACTAAATTCCAG	0.413																																																	0																																												0			AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9395192C>G				RNA	SNP	-	NULL	ENST00000427111.3	37	NULL		12																																																																																			LINC00987	-	-	ENSG00000237248		0.413	LINC00987-001	KNOWN	basic	lincRNA	LINC00987	HGNC	lincRNA	OTTHUMT00000399347.1	-	0.00	41	0	C			9395192	+1	tier1	-	no_errors	ENST00000427111	ensembl	human	known	74_37	rna	19.23	105	25	SNP	0.003	G
LOC100287792	100287792	genome.wustl.edu	37	20	36305343	36305343	+	lincRNA	DEL	C	C	-			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr20:36305343delC	ENST00000373508.1	+	0	32					NR_040021.1																						TCTCCAGGGGCCACCTGGCCT	0.547																																																	0																																												0																															20.37:g.36305343delC				RNA	DEL	-	NULL	ENST00000373508.1	37	NULL		20																																																																																			RP4-640H8.2	-	-	ENSG00000204117		0.547	RP4-640H8.2-001	KNOWN	basic	lincRNA	LOC100287792	Clone_based_vega_gene	lincRNA	OTTHUMT00000276667.1		0.00	12	0	C			36305343	+1			no_errors	ENST00000373508	ensembl	human	known	74_37	rna	20.00	28	7	DEL	0.000	0
LRRC29	26231	genome.wustl.edu	37	16	67244286	67244286	+	5'UTR	SNP	C	C	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:67244286C>A	ENST00000409037.1	-	0	702				AC040160.1_ENST00000454102.2_3'UTR|LRRC29_ENST00000409509.1_Intron|LRRC29_ENST00000462169.1_5'UTR|LRRC29_ENST00000393992.1_Intron|LRRC29_ENST00000341546.3_Intron			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29											autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCAGGCTCAGCTCCTGAAGCT	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.-195G>T	16.37:g.67244286C>A			B2RE92|Q9UKA0	RNA	SNP	-	NULL	ENST00000409037.1	37	NULL	CCDS32465.1	16																																																																																			LRRC29	-	-	ENSG00000125122		0.677	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC29	HGNC	protein_coding	OTTHUMT00000335073.1	-	0.00	14	0	C	NM_012163		67244286	-1	tier1	-	no_errors	ENST00000462169	ensembl	human	putative	74_37	rna	38.46	8	5	SNP	0.993	A
MAP2K2	5605	genome.wustl.edu	37	19	4099225	4099225	+	Missense_Mutation	SNP	G	G	T	rs200371894	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:4099225G>T	ENST00000262948.5	-	7	1146	c.893C>A	c.(892-894)cCg>cAg	p.P298Q	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Missense_Mutation_p.P201Q	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	298	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GGGGGGCCTCGGCCGAGGCGA	0.706																																																	0																																										SO:0001583	missense	0			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.893C>A	19.37:g.4099225G>T	ENSP00000262948:p.Pro298Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P298Q	ENST00000262948.5	37	c.893	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	g	16.75	3.210050	0.58343	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.92446	-3.04;-3.04	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059556	0.64402	D	0.000002	D	0.87099	0.6093	L	0.28649	0.875	0.80722	D	1	B	0.12630	0.006	B	0.20577	0.03	T	0.83196	-0.0081	10	0.33141	T	0.24	-35.1495	15.0001	0.71464	0.0:0.0:1.0:0.0	.	298	P36507	MP2K2_HUMAN	Q	298;201	ENSP00000262948:P298Q;ENSP00000378336:P201Q	ENSP00000262948:P298Q	P	-	2	0	MAP2K2	4050225	1.000000	0.71417	0.900000	0.35374	0.819000	0.46315	6.726000	0.74758	2.204000	0.70986	0.478000	0.44815	CCG	MAP2K2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000126934		0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	HGNC	protein_coding	OTTHUMT00000258957.2		0.00	56	0	G			4099225	-1			no_errors	ENST00000262948	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	137041712	137041712	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:137041712T>A	ENST00000359015.4	-	2	824	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	155					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATCGCTCATCTCCACCACCGC	0.443																																																	0													131.0	108.0	116.0					6																	137041712		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.464A>T	6.37:g.137041712T>A	ENSP00000351908:p.Glu155Val		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E155V	ENST00000359015.4	37	c.464	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789243	0.90367	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72942	-0.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81293	-0.0998	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	155	Q99683	M3K5_HUMAN	V	155;235	ENSP00000351908:E155V	ENSP00000351908:E155V	E	-	2	0	MAP3K5	137083405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	GAG	MAP3K5	-	NULL	ENSG00000197442		0.443	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0.00	49	0	T			137041712	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	24.71	64	21	SNP	1.000	A
MAX	4149	genome.wustl.edu	37	14	65543336	65543336	+	Missense_Mutation	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr14:65543336T>C	ENST00000358664.4	-	5	471	c.341A>G	c.(340-342)aAc>aGc	p.N114S	MAX_ENST00000555932.1_Missense_Mutation_p.T28A|MAX_ENST00000557277.1_Missense_Mutation_p.N51S|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.N78S|MAX_ENST00000284165.6_3'UTR|MAX_ENST00000358402.4_Missense_Mutation_p.N105S	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	114					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GGAGGGGTAGTTGGTCTGCAG	0.577																																																	0													209.0	191.0	197.0					14																	65543336		2203	4300	6503	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.341A>G	14.37:g.65543336T>C	ENSP00000351490:p.Asn114Ser		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N114S	ENST00000358664.4	37	c.341	CCDS9771.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.63|11.63	1.696785|1.696785	0.30142|0.30142	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000358402;ENST00000358664;ENST00000555419;ENST00000557277;ENST00000556892|ENST00000555932	D;D;D;D;D|.	0.97066|.	-4.23;-4.19;-3.57;-1.91;-2.31|.	5.93|5.93	4.79|4.79	0.61399|0.61399	.|.	1.098610|.	0.06844|.	N|.	0.796244|.	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.03324|0.03324	-0.35|-0.35	0.80722|0.80722	D|D	1|1	B;B|B	0.09022|0.06786	0.0;0.002|0.001	B;B|B	0.06405|0.11329	0.002;0.002|0.006	T|T	0.06570|0.06570	-1.0819|-1.0819	10|7	0.22109|.	T|.	0.4|.	-10.0348|-10.0348	11.178|11.178	0.48612|0.48612	0.0:0.073:0.0:0.927|0.0:0.073:0.0:0.927	.|.	105;114|28	P61244-2;P61244|G3V2N4	.;MAX_HUMAN|.	S|A	105;114;78;51;41|28	ENSP00000351175:N105S;ENSP00000351490:N114S;ENSP00000452405:N78S;ENSP00000450955:N51S;ENSP00000452206:N41S|.	ENSP00000351175:N105S|.	N|T	-|-	2|1	0|0	MAX|MAX	64613089|64613089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.654000|1.654000	0.37334|0.37334	1.068000|1.068000	0.40764|0.40764	0.482000|0.482000	0.46254|0.46254	AAC|ACT	MAX	-	NULL	ENSG00000125952		0.577	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	-	0.00	58	0	T	NM_197957		65543336	-1	tier1	-	no_errors	ENST00000358664	ensembl	human	known	74_37	missense	45.45	29	25	SNP	1.000	C
MECOM	2122	genome.wustl.edu	37	3	168825727	168825727	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:168825727T>A	ENST00000472280.1	-	9	2298	c.2030A>T	c.(2029-2031)gAt>gTt	p.D677V	MECOM_ENST00000433243.2_Missense_Mutation_p.D677V|MECOM_ENST00000264674.3_Missense_Mutation_p.D741V|MECOM_ENST00000468789.1_Missense_Mutation_p.D676V|MECOM_ENST00000494292.1_Intron|MECOM_ENST00000464456.1_Intron|MECOM_ENST00000392736.3_Missense_Mutation_p.D676V|MECOM_ENST00000460814.1_Intron			Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTCTCTGATCAGGCAGTTG	0.308																																																	0													47.0	52.0	50.0					3																	168825727		2202	4298	6500	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000472280.1:c.2030A>T	3.37:g.168825727T>A	ENSP00000420048:p.Asp677Val		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D741V	ENST00000472280.1	37	c.2222		3	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007302	0.54361	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000472280;ENST00000468789;ENST00000433243	T;T;T;T;T	0.05447	3.44;3.44;3.54;3.44;3.54	6.1	6.1	0.99115	.	.	.	.	.	T	0.19927	0.0479	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.994	T	0.00128	-1.2018	9	0.72032	D	0.01	-15.3977	16.686	0.85306	0.0:0.0:0.0:1.0	.	864;741;676	Q03112-3;Q03112-4;Q03112	.;.;EVI1_HUMAN	V	741;676;677;676;677	ENSP00000264674:D741V;ENSP00000376493:D676V;ENSP00000420048:D677V;ENSP00000419995:D676V;ENSP00000394302:D677V	ENSP00000264674:D741V	D	-	2	0	MECOM	170308421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.396000	0.79891	2.340000	0.79590	0.528000	0.53228	GAT	MECOM	-	NULL	ENSG00000085276		0.308	MECOM-019	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351553.1	-	0.00	35	0	T	NM_005241, NM_004991		168825727	-1	tier1	-	no_errors	ENST00000264674	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	A
METTL21EP	121952	genome.wustl.edu	37	13	103544905	103544906	+	lincRNA	INS	-	-	T	rs57292537|rs34557658|rs397961022|rs546368308	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr13:103544905_103544906insT	ENST00000607072.1	+	0	1954				METTL21EP_ENST00000605100.1_RNA																							CCAAGCGTCCCTTTTTTTTTTT	0.327																																																	0																																												0																															13.37:g.103544916_103544916dupT				RNA	INS	-	NULL	ENST00000607072.1	37	NULL		13																																																																																			METTL21EP	-	-	ENSG00000250878		0.327	RP11-255P5.2-001	KNOWN	basic	lincRNA	METTL21EP	HGNC	lincRNA	OTTHUMT00000471205.1		0.00	11	0	-			103544906	+1	tier1		no_errors	ENST00000605100	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.000:0.000	T
METTL21EP	121952	genome.wustl.edu	37	13	103544906	103544906	+	lincRNA	DEL	T	T	-	rs34557658|rs57292537	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr13:103544906delT	ENST00000607072.1	+	0	1954				METTL21EP_ENST00000605100.1_RNA																							CAAGCGTCCCTTTTTTTTTTT	0.323																																																	0																																												0																															13.37:g.103544906delT				RNA	DEL	-	NULL	ENST00000607072.1	37	NULL		13																																																																																			METTL21EP	-	-	ENSG00000250878		0.323	RP11-255P5.2-001	KNOWN	basic	lincRNA	METTL21EP	HGNC	lincRNA	OTTHUMT00000471205.1		0.00	11	0	T			103544906	+1	tier1		no_errors	ENST00000605100	ensembl	human	known	74_37	rna	20.83	19	5	DEL	0.000	-
MIR1302-3	100302128	genome.wustl.edu	37	2	114340606	114340606	+	RNA	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:114340606A>T	ENST00000408128.1	-	0	67					NR_031632.1				microRNA 1302-3																		tcccaaactaagcttgggaaa	0.338																																																	0													74.0	73.0	73.0					2																	114340606		1568	3577	5145			0					2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340606A>T				RNA	SNP	-	NULL	ENST00000408128.1	37	NULL		2																																																																																			MIR1302-3	-	-	ENSG00000221055		0.338	MIR1302-3-201	KNOWN	basic	miRNA	MIR1302-3	HGNC	miRNA		-	0.00	276	0	A	NR_031632		114340606	-1	tier1	-	no_errors	ENST00000408128	ensembl	human	known	74_37	rna	12.18	447	62	SNP	0.004	T
MIR518F	574472	genome.wustl.edu	37	19	54201690	54201690	+	RNA	SNP	A	A	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:54201690A>C	ENST00000384973.1	+	0	0				MIR520B_ENST00000384989.1_RNA|MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		CTGAAAGAAAAGAACGCGCTT	0.443																																																	0													74.0	71.0	72.0					19																	54201690		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54201690A>C				RNA	SNP	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			MIR523	-	-	ENSG00000208016		0.443	MIR518F-201	KNOWN	basic	miRNA	MIR523	HGNC	miRNA		-	0.00	69	0	A	NR_030194		54201690	+1	tier1	-	no_errors	ENST00000385281	ensembl	human	known	74_37	rna	14.74	81	14	SNP	0.005	C
MIR518F	574472	genome.wustl.edu	37	19	54201716	54201716	+	RNA	SNP	C	C	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:54201716C>A	ENST00000384973.1	+	0	0				MIR520B_ENST00000384989.1_RNA|MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		TAGAGGGTTACCCTTTGAGAA	0.458																																																	0													50.0	48.0	49.0					19																	54201716		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54201716C>A				RNA	SNP	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			MIR523	-	-	ENSG00000208016		0.458	MIR518F-201	KNOWN	basic	miRNA	MIR523	HGNC	miRNA		-	0.00	53	0	C	NR_030194		54201716	+1	tier1	-	no_errors	ENST00000385281	ensembl	human	known	74_37	rna	8.64	74	7	SNP	0.000	A
MST1L	11223	genome.wustl.edu	37	1	17083597	17083597	+	RNA	SNP	G	G	A	rs186155999		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:17083597G>A	ENST00000455405.2	-	0	991							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaccattttcgtttaagaaag	0.333																																																	0																																												0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083597G>A			B7WPB1|Q13209	RNA	SNP	-	NULL	ENST00000455405.2	37	NULL		1																																																																																			MST1L	-	-	ENSG00000186715		0.333	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1		0.00	55	0	G	NM_001271733		17083597	-1			no_errors	ENST00000455405	ensembl	human	known	74_37	rna	7.81	59	5	SNP	0.000	A
NAP1L4	4676	genome.wustl.edu	37	11	2979674	2979674	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:2979674G>C	ENST00000380542.4	-	10	987	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	NAP1L4_ENST00000526115.1_Missense_Mutation_p.Q283E	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	283					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TTGGGTACTTGTTTCGTAATT	0.343																																																	0													205.0	191.0	195.0					11																	2979674		1896	4106	6002	SO:0001583	missense	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.847C>G	11.37:g.2979674G>C	ENSP00000369915:p.Gln283Glu		B2R6J4|F5HFY4	Missense_Mutation	SNP	pfam_NAP_family	p.Q283E	ENST00000380542.4	37	c.847	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	G	6.196	0.404396	0.11754	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.23754	1.89;1.89	4.36	4.36	0.52297	.	0.189899	0.47455	D	0.000230	T	0.15739	0.0379	N	0.12961	0.28	0.38455	D	0.947065	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.01	T	0.07158	-1.0787	10	0.38643	T	0.18	-22.4219	12.2946	0.54838	0.0:0.0:0.8308:0.1692	.	283;283	F5HFY4;Q99733	.;NP1L4_HUMAN	E	283	ENSP00000369915:Q283E;ENSP00000436397:Q283E	ENSP00000369915:Q283E	Q	-	1	0	NAP1L4	2936250	1.000000	0.71417	0.283000	0.24790	0.247000	0.25773	2.900000	0.48687	2.278000	0.76064	0.585000	0.79938	CAA	NAP1L4	-	pfam_NAP_family	ENSG00000205531		0.343	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L4	HGNC	protein_coding	OTTHUMT00000030273.3	-	0.00	80	0	G	NM_005969		2979674	-1	tier1	-	no_errors	ENST00000380542	ensembl	human	known	74_37	missense	21.95	64	18	SNP	0.959	C
NECAB1	64168	genome.wustl.edu	37	8	91962058	91962058	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:91962058A>T	ENST00000417640.2	+	11	1221	c.884A>T	c.(883-885)aAt>aTt	p.N295I	NECAB1_ENST00000522820.1_Missense_Mutation_p.N44I|NECAB1_ENST00000521366.1_Missense_Mutation_p.N44I	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	295	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AAGCTTTCAAATGAATCTCGC	0.353																																																	0													140.0	124.0	129.0					8																	91962058		1829	4091	5920	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.884A>T	8.37:g.91962058A>T	ENSP00000387380:p.Asn295Ile		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N295I	ENST00000417640.2	37	c.884	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073266	0.76415	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.32272	1.46;1.46;1.46	5.72	3.23	0.37069	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.093937	0.64402	D	0.000001	T	0.30262	0.0759	L	0.44542	1.39	0.58432	D	0.999997	P	0.49696	0.927	P	0.48952	0.596	T	0.05733	-1.0867	10	0.87932	D	0	-17.5851	6.0255	0.19652	0.7123:0.1391:0.1486:0.0	.	295	Q8N987	NECA1_HUMAN	I	295;44;44	ENSP00000387380:N295I;ENSP00000428953:N44I;ENSP00000428632:N44I	ENSP00000387380:N295I	N	+	2	0	NECAB1	92031234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.416000	0.34759	1.002000	0.39104	0.533000	0.62120	AAT	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.353	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0.00	65	0	A	NM_022351		91962058	+1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	7.44	112	9	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139400294	139400294	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:139400294delA	ENST00000277541.6	-	25	4129	c.4054delT	c.(4054-4056)tgcfs	p.C1352fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1352	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCTGCCGCAGGTACGAGCG	0.721			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													8.0	12.0	10.0					9																	139400294		1687	3579	5266	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4054delT	9.37:g.139400294delA	ENSP00000277541:p.Cys1352fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1352fs	ENST00000277541.6	37	c.4054	CCDS43905.1	9																																																																																			NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.721	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	15	0	A	NM_017617		139400294	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	53.85	6	7	DEL	1.000	-
NOTCH3	4854	genome.wustl.edu	37	19	15300089	15300089	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300089G>T	ENST00000263388.2	-	7	1262	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	396	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCACCGATAGAGCACTCGTC	0.632																																																	0													82.0	80.0	81.0					19																	15300089		2203	4300	6503	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1187C>A	19.37:g.15300089G>T	ENSP00000263388:p.Ser396Tyr		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S396Y	ENST00000263388.2	37	c.1187	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651856	0.67472	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92249	-3.0	4.68	4.68	0.58851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95430	0.8516	M	0.70787	2.145	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.967;0.979	D	0.96064	0.9041	9	0.87932	D	0	.	16.3746	0.83381	0.0:0.0:1.0:0.0	.	399;396	Q59FL3;Q9UM47	.;NOTC3_HUMAN	Y	396;398	ENSP00000263388:S396Y	ENSP00000263388:S396Y	S	-	2	0	NOTCH3	15161089	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.284000	0.95882	2.154000	0.67381	0.491000	0.48974	TCT	NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	54	0	G	NM_000435		15300089	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	51.52	48	51	SNP	1.000	T
NOTCH3	4854	genome.wustl.edu	37	19	15300181	15300181	+	Silent	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300181G>A	ENST00000263388.2	-	7	1170	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	365	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGTGTCACAGATAGCATCCT	0.587																																																	0													94.0	98.0	97.0					19																	15300181		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1095C>T	19.37:g.15300181G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.I365	ENST00000263388.2	37	c.1095	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	37	0	G	NM_000435		15300181	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	52.24	32	35	SNP	1.000	A
NOTCH3	4854	genome.wustl.edu	37	19	15300208	15300208	+	Silent	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300208G>A	ENST00000263388.2	-	7	1143	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	356	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTGACACAGGCGT	0.597																																																	0													87.0	92.0	90.0					19																	15300208		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1068C>T	19.37:g.15300208G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V356	ENST00000263388.2	37	c.1068	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	21	0	G	NM_000435		15300208	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	50.91	27	28	SNP	1.000	A
NOTCH3	4854	genome.wustl.edu	37	19	15303192	15303192	+	Silent	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15303192G>A	ENST00000263388.2	-	3	411	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	112	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCTCACCTCGGAAGCCACGGG	0.657																																																	0													29.0	26.0	27.0					19																	15303192		2203	4295	6498	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.336C>T	19.37:g.15303192G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.F112	ENST00000263388.2	37	c.336	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	84	0	G	NM_000435		15303192	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	57.43	63	85	SNP	1.000	A
NPHP3	27031	genome.wustl.edu	37	3	132423181	132423181	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:132423181G>C	ENST00000337331.5	-	9	1471	c.1385C>G	c.(1384-1386)aCt>aGt	p.T462S	NPHP3_ENST00000326682.8_Missense_Mutation_p.T462S|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	462					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAATCCTTAGTCTCCAAGTC	0.403																																																	0													219.0	228.0	225.0					3																	132423181		2203	4300	6503	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1385C>G	3.37:g.132423181G>C	ENSP00000338766:p.Thr462Ser		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T462S	ENST00000337331.5	37	c.1385	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051802	0.08291	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91068	-2.78;-2.66	5.77	-1.39	0.08997	.	1.217340	0.05291	N	0.521143	T	0.71896	0.3394	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63998	-0.6510	10	0.09338	T	0.73	-0.1032	3.5277	0.07765	0.1508:0.4158:0.252:0.1815	.	462	Q7Z494	NPHP3_HUMAN	S	462	ENSP00000319909:T462S;ENSP00000338766:T462S	ENSP00000319909:T462S	T	-	2	0	NPHP3	133905871	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	0.205000	0.17356	-0.094000	0.12374	0.655000	0.94253	ACT	NPHP3	-	superfamily_P-loop_NTPase	ENSG00000113971		0.403	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	-	0.00	19	0	G	NM_153240		132423181	-1	tier1	-	no_errors	ENST00000337331	ensembl	human	known	74_37	missense	42.47	42	31	SNP	0.000	C
NR2F2	7026	genome.wustl.edu	37	15	96877712	96877712	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:96877712C>T	ENST00000394166.3	+	2	2239	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NR2F2_ENST00000453270.2_Missense_Mutation_p.R131W|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Missense_Mutation_p.R151W|NR2F2_ENST00000394171.2_Missense_Mutation_p.R131W	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	284	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GTCCGCCGACCGGGTGGTCGC	0.637																																																	0													30.0	31.0	30.0					15																	96877712		2197	4298	6495	SO:0001583	missense	0			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.850C>T	15.37:g.96877712C>T	ENSP00000377721:p.Arg284Trp		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R284W	ENST00000394166.3	37	c.850	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361385	0.82353	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.09	4.16	0.48862	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.49916	D	0.000121	D	0.98210	0.9408	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.953	D	0.98737	1.0715	10	0.87932	D	0	.	12.6428	0.56718	0.301:0.699:0.0:0.0	.	284;151	P24468;Q3KQR7	COT2_HUMAN;.	W	151;284;131;131	ENSP00000401674:R151W;ENSP00000377721:R284W;ENSP00000377726:R131W;ENSP00000389853:R131W	ENSP00000377721:R284W	R	+	1	2	NR2F2	94678716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.982000	0.40638	1.122000	0.41944	0.655000	0.94253	CGG	NR2F2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF	ENSG00000185551		0.637	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	-	0.00	44	0	C			96877712	+1	tier1	-	no_errors	ENST00000394166	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	T
NTRK2	4915	genome.wustl.edu	37	9	87339229	87339229	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:87339229C>T	ENST00000323115.4	+	7	1164	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	NTRK2_ENST00000395866.2_Missense_Mutation_p.L115F|NTRK2_ENST00000376208.1_Missense_Mutation_p.L271F|NTRK2_ENST00000395882.1_Missense_Mutation_p.L271F|NTRK2_ENST00000376213.1_Missense_Mutation_p.L271F|NTRK2_ENST00000359847.3_Missense_Mutation_p.L271F|NTRK2_ENST00000277120.3_Missense_Mutation_p.L271F|NTRK2_ENST00000304053.6_Missense_Mutation_p.L271F|NTRK2_ENST00000376214.1_Missense_Mutation_p.L271F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	271	Ig-like C2-type 1.				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)	GGCGGAAAATCTTGTAGGAGA	0.418										TSP Lung(25;0.17)																																							0													224.0	212.0	216.0					9																	87339229		2203	4300	6503	SO:0001583	missense	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.811C>T	9.37:g.87339229C>T	ENSP00000314586:p.Leu271Phe		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	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.L271F	ENST00000323115.4	37	c.811	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889163	0.52014	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.27	1.97	0.26223	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188218	0.45867	D	0.000340	T	0.64057	0.2564	L	0.31157	0.91	0.32822	D	0.5029	P;B;B;B;B;B;D;B	0.56287	0.724;0.127;0.127;0.154;0.316;0.039;0.975;0.127	B;B;B;B;B;B;P;B	0.53062	0.424;0.119;0.185;0.281;0.395;0.169;0.717;0.185	T	0.72469	-0.4284	10	0.56958	D	0.05	.	13.4396	0.61106	0.5967:0.4033:0.0:0.0	.	115;271;271;271;271;271;317;271	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	F	271;271;271;271;271;271;271;271;115	ENSP00000365387:L271F;ENSP00000365386:L271F;ENSP00000379221:L271F;ENSP00000365381:L271F;ENSP00000306167:L271F;ENSP00000277120:L271F;ENSP00000314586:L271F;ENSP00000352906:L271F;ENSP00000379207:L115F	ENSP00000277120:L271F	L	+	1	0	NTRK2	86529049	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.529000	0.53532	0.234000	0.21139	0.460000	0.39030	CTT	NTRK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt	ENSG00000148053		0.418	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0.00	52	0	C			87339229	+1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
NUBP1	4682	genome.wustl.edu	37	16	10855708	10855708	+	Missense_Mutation	SNP	C	C	T	rs372446215	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:10855708C>T	ENST00000283027.5	+	9	831	c.812C>T	c.(811-813)cCg>cTg	p.P271L	TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P260L	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCCTGGATCCGCTCATAGGT	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		15327	0.0		0.0	False		,,,				2504	0.0031																0													40.0	42.0	41.0					16																	10855708		2197	4300	6497	SO:0001583	missense	0			U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.812C>T	16.37:g.10855708C>T	ENSP00000283027:p.Pro271Leu			Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Anion-transp_ATPase-like_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P271L	ENST00000283027.5	37	c.812	CCDS10543.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272057	0.80469	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.43688	0.94;0.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.73380	0.773;0.98	T	0.68938	-0.5277	10	0.72032	D	0.01	-19.589	18.4159	0.90570	0.0:1.0:0.0:0.0	.	260;271	P53384-2;P53384	.;NUBP1_HUMAN	L	271;260	ENSP00000283027:P271L;ENSP00000409654:P260L	ENSP00000283027:P271L	P	+	2	0	NUBP1	10763209	1.000000	0.71417	0.573000	0.28510	0.338000	0.28826	7.376000	0.79658	2.642000	0.89623	0.655000	0.94253	CCG	NUBP1	-	superfamily_P-loop_NTPase	ENSG00000103274		0.652	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP1	HGNC	protein_coding	OTTHUMT00000251964.2	-	0.00	46	0	C	NM_002484		10855708	+1	tier1	-	no_errors	ENST00000283027	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	T
NWD1	284434	genome.wustl.edu	37	19	16918782	16918782	+	Silent	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:16918782C>T	ENST00000552788.1	+	16	4122	c.4122C>T	c.(4120-4122)taC>taT	p.Y1374Y	NWD1_ENST00000523826.1_Silent_p.Y1168Y|NWD1_ENST00000339803.6_Silent_p.Y1239Y|NWD1_ENST00000549814.1_Silent_p.Y1332Y|NWD1_ENST00000379808.3_Silent_p.Y1374Y|NWD1_ENST00000524140.2_Silent_p.Y1374Y			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1374							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTTTCTTTACGAGTGTGCAA	0.577																																																	0													181.0	159.0	167.0					19																	16918782		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4122C>T	19.37:g.16918782C>T			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y1374	ENST00000552788.1	37	c.4122		19																																																																																			NWD1	-	superfamily_WD40_repeat_dom	ENSG00000188039		0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0.00	44	0	C	NM_001007525		16918782	+1	tier1	-	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.995	T
NYNRIN	57523	genome.wustl.edu	37	14	24880309	24880309	+	Silent	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr14:24880309C>T	ENST00000382554.3	+	5	2760	c.2442C>T	c.(2440-2442)tgC>tgT	p.C814C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	814					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCTCCTGCCGAGGAATTG	0.602											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	78.0	76.0					14																	24880309		2102	4243	6345	SO:0001819	synonymous_variant	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2442C>T	14.37:g.24880309C>T		774	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.C814	ENST00000382554.3	37	c.2442	CCDS45090.1	14																																																																																			NYNRIN	-	pfam_RNase_Zc3h12	ENSG00000205978		0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	-	0.00	55	0	C			24880309	+1	tier1	-	no_errors	ENST00000382554	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	T
OGT	8473	genome.wustl.edu	37	X	70787359	70787359	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chrX:70787359C>T	ENST00000373719.3	+	20	2816	c.2599C>T	c.(2599-2601)Cgt>Tgt	p.R867C	OGT_ENST00000373701.3_Missense_Mutation_p.R857C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	867					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GATTCTGAAGCGTGTTCCCAA	0.403																																																	0													69.0	65.0	66.0					X																	70787359		2203	4300	6503	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2599C>T	X.37:g.70787359C>T	ENSP00000362824:p.Arg867Cys		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R867C	ENST00000373719.3	37	c.2599	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031569	0.75504	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.19938	2.11;2.11	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.91635	0.999;0.838;0.976	T	0.58154	-0.7686	10	0.66056	D	0.02	-18.9105	13.4891	0.61384	0.1663:0.8337:0.0:0.0	.	741;857;867	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	867;857	ENSP00000362824:R867C;ENSP00000362805:R857C	ENSP00000362805:R857C	R	+	1	0	OGT	70704084	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.686000	0.54685	2.362000	0.80069	0.544000	0.68410	CGT	OGT	-	NULL	ENSG00000147162		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0.00	18	0	C	NM_003605, NM_181672		70787359	+1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	missense	68.29	13	28	SNP	1.000	T
OR2T12	127064	genome.wustl.edu	37	1	248457987	248457987	+	Silent	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:248457987G>T	ENST00000317996.1	-	1	893	c.894C>A	c.(892-894)gcC>gcA	p.A298A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACCGTTTCAGGGCTTCCTTGA	0.468																																																	0													166.0	161.0	163.0					1																	248457987		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.894C>A	1.37:g.248457987G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A298	ENST00000317996.1	37	c.894	CCDS31110.1	1																																																																																			OR2T12	-	NULL	ENSG00000177201		0.468	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	-	0.00	98	0	G	NM_001004692		248457987	-1	tier1	-	no_errors	ENST00000317996	ensembl	human	known	74_37	silent	16.67	95	19	SNP	0.001	T
PCDHB11	56125	genome.wustl.edu	37	5	140580326	140580326	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:140580326C>T	ENST00000354757.3	+	1	979	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGGAGGACTTTTTGGAAA	0.363																																																	0													87.0	88.0	88.0					5																	140580326		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.979C>T	5.37:g.140580326C>T	ENSP00000346802:p.Leu327Phe		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L327F	ENST00000354757.3	37	c.979	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536010	0.64972	.	.	ENSG00000197479	ENST00000354757;ENST00000536825	T	0.01804	4.63	2.7	1.79	0.24919	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05777	0.0151	M	0.69248	2.105	0.80722	D	1	P	0.50710	0.938	P	0.62885	0.908	T	0.32981	-0.9886	9	0.52906	T	0.07	.	5.0418	0.14463	0.2088:0.6764:0.0:0.1147	.	327	Q9Y5F2	PCDBB_HUMAN	F	327;17	ENSP00000346802:L327F	ENSP00000346802:L327F	L	+	1	0	PCDHB11	140560510	0.000000	0.05858	0.304000	0.25085	0.828000	0.46876	0.814000	0.27239	0.432000	0.26286	0.467000	0.42956	CTT	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000197479		0.363	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0.00	30	0	C	NM_018931		140580326	+1			no_errors	ENST00000354757	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.881	T
PCLO	27445	genome.wustl.edu	37	7	82785098	82785098	+	Missense_Mutation	SNP	C	C	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:82785098C>G	ENST00000333891.9	-	2	1196	c.859G>C	c.(859-861)Gac>Cac	p.D287H	PCLO_ENST00000423517.2_Missense_Mutation_p.D287H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTACTATGTCTGCCTGTTTA	0.507																																																	0													121.0	111.0	114.0					7																	82785098		2075	4210	6285	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.859G>C	7.37:g.82785098C>G	ENSP00000334319:p.Asp287His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.D287H	ENST00000333891.9	37	c.859	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698546	0.30142	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20881	2.04;2.05	5.26	5.26	0.73747	.	.	.	.	.	T	0.35740	0.0942	L	0.43152	1.355	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.06481	-1.0824	9	0.87932	D	0	.	16.6667	0.85254	0.0:1.0:0.0:0.0	.	287;287	Q9Y6V0-5;Q9Y6V0-6	.;.	H	287	ENSP00000334319:D287H;ENSP00000388393:D287H	ENSP00000334319:D287H	D	-	1	0	PCLO	82623034	0.998000	0.40836	0.945000	0.38365	0.894000	0.52154	2.706000	0.47135	2.468000	0.83385	0.655000	0.94253	GAC	PCLO	-	NULL	ENSG00000186472		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0.00	17	0	C	NM_014510		82785098	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G
PFDN2	5202	genome.wustl.edu	37	1	161070556	161070556	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:161070556C>T	ENST00000368010.3	-	4	466	c.382G>A	c.(382-384)Gga>Aga	p.G128R	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	128					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCATCTTCTCCCATGAGACGA	0.502																																																	0													152.0	141.0	145.0					1																	161070556		2203	4300	6503	SO:0001583	missense	0			AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.382G>A	1.37:g.161070556C>T	ENSP00000356989:p.Gly128Arg		Q9P0P7|Q9UN05	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.G128R	ENST00000368010.3	37	c.382	CCDS1217.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338305	0.81911	.	.	ENSG00000143256	ENST00000368010	T	0.43688	0.94	5.24	4.34	0.51931	Prefoldin beta-like (1);	0.051197	0.85682	N	0.000000	T	0.44912	0.1316	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41698	-0.9494	10	0.42905	T	0.14	-20.0447	11.2924	0.49258	0.0:0.9132:0.0:0.0868	.	128	Q9UHV9	PFD2_HUMAN	R	128	ENSP00000356989:G128R	ENSP00000356989:G128R	G	-	1	0	PFDN2	159337180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.594000	0.61041	1.444000	0.47605	0.561000	0.74099	GGA	PFDN2	-	pfam_PFD_beta-like	ENSG00000143256		0.502	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN2	HGNC	protein_coding	OTTHUMT00000077100.1	-	0.00	71	0	C	NM_012394		161070556	-1	tier1	-	no_errors	ENST00000368010	ensembl	human	known	74_37	missense	5.19	146	8	SNP	1.000	T
PFDN5	5204	genome.wustl.edu	37	12	53690038	53690038	+	Silent	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:53690038A>G	ENST00000551018.1	+	3	463	c.186A>G	c.(184-186)ttA>ttG	p.L62L	PFDN5_ENST00000334478.4_Silent_p.L62L|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000550846.1_Intron	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						GGAAAGAATTACTCGTCCCAC	0.527																																																	0													89.0	84.0	86.0					12																	53690038		2203	4300	6503	SO:0001819	synonymous_variant	0			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.186A>G	12.37:g.53690038A>G			A8K9A8|Q54AA8|Q9C083|Q9C084	Silent	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	p.L62	ENST00000551018.1	37	c.186	CCDS8853.1	12																																																																																			PFDN5	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	ENSG00000123349		0.527	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	-	0.00	37	0	A			53690038	+1	tier1	-	no_errors	ENST00000551018	ensembl	human	known	74_37	silent	46.15	28	24	SNP	0.999	G
PGR	5241	genome.wustl.edu	37	11	100999704	100999704	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:100999704G>A	ENST00000325455.5	-	1	1551	c.98C>T	c.(97-99)gCa>gTa	p.A33V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A33V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	33	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GAACGGACCTGCGGCTGGGCG	0.687																																					Pancreas(124;2271 2354 21954 22882)												0													18.0	15.0	16.0					11																	100999704		2202	4296	6498	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.98C>T	11.37:g.100999704G>A	ENSP00000325120:p.Ala33Val		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.A33V	ENST00000325455.5	37	c.98	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518615	0.13005	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08102	3.13;3.13	4.68	2.79	0.32731	.	1.415430	0.04726	N	0.420173	T	0.11750	0.0286	L	0.58101	1.795	0.09310	N	1	B;B	0.27882	0.192;0.192	B;B	0.25759	0.063;0.063	T	0.35500	-0.9786	10	0.48119	T	0.1	.	7.6165	0.28160	0.0906:0.1645:0.7449:0.0	.	33;33	Q8TDS3;P06401	.;PRGR_HUMAN	V	33	ENSP00000325120:A33V;ENSP00000263463:A33V	ENSP00000263463:A33V	A	-	2	0	PGR	100504914	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.721000	0.25911	0.400000	0.25396	-0.224000	0.12420	GCA	PGR	-	pfam_Progest_rcpt	ENSG00000082175		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0.00	32	0	G			100999704	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.001	A
PLA2G15	23659	genome.wustl.edu	37	16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:68289855delG	ENST00000219345.5	+	5	772	c.689delG	c.(688-690)tggfs	p.W230fs	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.W136fs|PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Frame_Shift_Del_p.L188fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGTGCGCCCTGGGGGGGCGTG	0.627																																																	0													26.0	29.0	28.0					16																	68289855		2198	4300	6498	SO:0001589	frameshift_variant	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.689delG	16.37:g.68289855delG	ENSP00000219345:p.Trp230fs		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Del	DEL	pfam_LACT/PDAT_acylTrfase	p.G232fs	ENST00000219345.5	37	c.689	CCDS10864.1	16																																																																																			PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.627	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2		0.00	49	0	G	NM_012320		68289855	+1	tier1		no_errors	ENST00000219345	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-
PRPF38B	55119	genome.wustl.edu	37	1	109239448	109239449	+	Intron	DNP	GC	GC	TT	rs187773213	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:109239448_109239449GC>TT	ENST00000370025.4	+	4	827				PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_3'UTR|PRPF38B_ENST00000370021.1_Intron	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ACATAAATAGGCTAAGTGTTTG	0.351																																																	0																																										SO:0001627	intron_variant	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	Exception_encountered	1.37:g.109239448_109239449delinsTT			Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	RNA	SNP	-	NULL	ENST00000370025.4	37	NULL	CCDS788.1	1																																																																																			PRPF38B	-	-	ENSG00000134186		0.351	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	-	0.00	61|60	0	G|C	NM_018061		109239448|109239449	+1	tier1	-	no_errors	ENST00000467302	ensembl	human	known	74_37	rna	32.26|31.25	42|44	20	SNP	0.001|0.005	T
PRPF3	9129	genome.wustl.edu	37	1	150318737	150318737	+	Intron	SNP	C	C	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:150318737C>G	ENST00000324862.6	+	13	1924				PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000467329.1_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TATGCTAGGTCTCTGCTTCTG	0.433																																					Ovarian(168;1070 2670 5178 20729)												0																																										SO:0001627	intron_variant	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1759+125C>G	1.37:g.150318737C>G			B4DSY9|O43446|Q5VT54	RNA	SNP	-	NULL	ENST00000324862.6	37	NULL	CCDS951.1	1																																																																																			PRPF3	-	-	ENSG00000117360		0.433	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	-	0.00	17	0	C	NM_004698		150318737	+1	tier1	-	no_errors	ENST00000476970	ensembl	human	known	74_37	rna	33.33	20	10	SNP	0.000	G
PUF60	22827	genome.wustl.edu	37	8	144900169	144900169	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:144900169C>T	ENST00000526683.1	-	8	1235	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.R181H|PUF60_ENST00000349157.6_Missense_Mutation_p.R210H|PUF60_ENST00000453551.2_Missense_Mutation_p.R184H|SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.R167H|PUF60_ENST00000456095.2_Missense_Mutation_p.R198H	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	227	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACGTAGATGCGGTTGAAGGC	0.602																																																	0													59.0	62.0	61.0					8																	144900169		2143	4234	6377	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.680G>A	8.37:g.144900169C>T	ENSP00000434359:p.Arg227His		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.R227H	ENST00000526683.1	37	c.680	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939533|4.939533	0.92526|0.92526	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000527744|ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897	.|T;T;T;T;T;T;T;T;T	.|0.37584	.|3.24;3.24;3.24;3.24;3.24;3.24;1.19;3.28;2.52	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57858|0.57858	0.2082|0.2082	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.59767	.|0.986;0.967;0.945	.|P;P;P	.|0.59889	.|0.865;0.734;0.648	T|T	0.63550|0.63550	-0.6612|-0.6612	5|10	.|0.54805	.|T	.|0.06	.|.	16.8052|16.8052	0.85625|0.85625	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|198;210;227	.|Q9UHX1-5;Q9UHX1-2;Q9UHX1	.|.;.;PUF60_HUMAN	T|H	225|227;184;167;198;210;181;209;247;247	.|ENSP00000434359:R227H;ENSP00000402953:R184H;ENSP00000322016:R167H;ENSP00000395417:R198H;ENSP00000322036:R210H;ENSP00000431960:R181H;ENSP00000432610:R209H;ENSP00000434863:R247H;ENSP00000437309:R247H	.|ENSP00000322016:R167H	A|R	-|-	1|2	0|0	PUF60|PUF60	144972157|144972157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.251000|7.251000	0.78297|0.78297	2.271000|2.271000	0.75665|0.75665	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PUF60	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	ENSG00000179950		0.602	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	-	0.00	69	0	C	NM_014281		144900169	-1	tier1	-	no_errors	ENST00000526683	ensembl	human	known	74_37	missense	22.45	76	22	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79310155	79310155	+	Nonsense_Mutation	SNP	G	G	T	rs141668129		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:79310155G>T	ENST00000419573.3	-	12	1974	c.1700C>A	c.(1699-1701)tCg>tAg	p.S567*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.S567*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	567	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTGGACGAGGCCACTAG	0.542																																																	0													125.0	110.0	115.0					15																	79310155		2196	4293	6489	SO:0001587	stop_gained	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1700C>A	15.37:g.79310155G>T	ENSP00000405963:p.Ser567*		F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S567*	ENST00000419573.3	37	c.1700	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.799392	0.98958	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5578	0.68113	0.0:0.0:1.0:0.0	.	.	.	.	X	567	.	ENSP00000378224:S567X	S	-	2	0	RASGRF1	77097210	1.000000	0.71417	0.968000	0.41197	0.786000	0.44442	9.441000	0.97557	2.262000	0.75019	0.467000	0.42956	TCG	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.542	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	54	0	G	NM_002891		79310155	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	nonsense	42.11	44	32	SNP	0.998	T
RBM6	10180	genome.wustl.edu	37	3	50012786	50012786	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:50012786A>T	ENST00000266022.4	+	5	1703	c.1444A>T	c.(1444-1446)Atg>Ttg	p.M482L	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.M350L|RBM6_ENST00000422955.1_De_novo_Start_OutOfFrame	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	482	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCCTGATGGCATGCCTGTAAA	0.378																																																	0													196.0	183.0	187.0					3																	50012786		2203	4300	6503	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1444A>T	3.37:g.50012786A>T	ENSP00000266022:p.Met482Leu		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.M482L	ENST00000266022.4	37	c.1444	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	A	8.725	0.915363	0.17907	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.29917	1.55;1.58	5.79	-1.2	0.09554	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	1.175070	0.05749	N	0.602681	T	0.19725	0.0474	L	0.37630	1.12	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22068	-1.0227	9	.	.	.	2.5538	1.4186	0.02307	0.3245:0.334:0.1255:0.2161	.	350;482	E9PGM9;P78332	.;RBM6_HUMAN	L	482;350	ENSP00000266022:M482L;ENSP00000396466:M350L	.	M	+	1	0	RBM6	49987790	0.001000	0.12720	0.150000	0.22450	0.960000	0.62799	0.161000	0.16481	-0.418000	0.07450	0.402000	0.26972	ATG	RBM6	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000004534		0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	-	0.00	57	0	A	NM_005777		50012786	+1	tier1	-	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	40.82	29	20	SNP	0.005	T
RBP3	5949	genome.wustl.edu	37	10	48389039	48389039	+	Silent	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:48389039G>A	ENST00000224600.4	-	1	1952	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	613	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGATGGCATCGGGCACCACTC	0.672																																																	0													32.0	34.0	33.0					10																	48389039		2199	4290	6489	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1839C>T	10.37:g.48389039G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.P613	ENST00000224600.4	37	c.1839	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0.00	30	0	G	NM_002900		48389039	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.028	A
RHCE	6006	genome.wustl.edu	37	1	25718576	25718576	+	Silent	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:25718576C>T	ENST00000294413.7	-	4	601	c.543G>A	c.(541-543)ctG>ctA	p.L181L	RHCE_ENST00000425135.1_Silent_p.L181L|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.L181L|RHCE_ENST00000374352.2_Silent_p.L165L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Silent_p.L181L|RHCE_ENST00000413854.1_Silent_p.L181L|RHCE_ENST00000349320.3_Silent_p.L165L	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	181						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCACAGTCAGCCCAAAAT	0.522																																																	0													255.0	205.0	222.0					1																	25718576		2203	4300	6503	SO:0001819	synonymous_variant	0			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.543G>A	1.37:g.25718576C>T			A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L181	ENST00000294413.7	37	c.543	CCDS30635.1	1																																																																																			RHCE	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000188672		0.522	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020312.2	-	0.00	137	0	C	NM_020485		25718576	-1	tier1	-	no_errors	ENST00000294413	ensembl	human	known	74_37	silent	35.60	123	68	SNP	0.990	T
RUFY1	80230	genome.wustl.edu	37	5	179004112	179004112	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:179004112G>T	ENST00000319449.4	+	6	877	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	RUFY1_ENST00000393438.2_Missense_Mutation_p.V181L|RUFY1_ENST00000377001.2_Missense_Mutation_p.V289L|RUFY1_ENST00000437570.2_Missense_Mutation_p.V181L	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	289					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTAAGGATGTGCAGGATCT	0.313										HNSCC(44;0.11)																																							0													223.0	205.0	211.0					5																	179004112		2203	4300	6503	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.865G>T	5.37:g.179004112G>T	ENSP00000325594:p.Val289Leu		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.V289L	ENST00000319449.4	37	c.865	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.535|6.535	0.467052|0.467052	0.12402|0.12402	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000508609|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|T;T;T;T	.|0.51071	.|0.72;1.94;0.74;0.74	5.58|5.58	4.71|4.71	0.59529|0.59529	.|.	.|0.692560	.|0.15003	.|N	.|0.286019	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.14117|0.14117	-1.0484|-1.0484	5|10	.|0.30078	.|T	.|0.28	-11.0751|-11.0751	9.6032|9.6032	0.39617|0.39617	0.2012:0.0:0.7988:0.0|0.2012:0.0:0.7988:0.0	.|.	.|289	.|Q96T51	.|RUFY1_HUMAN	I|L	99|289;289;181;181	.|ENSP00000325594:V289L;ENSP00000366200:V289L;ENSP00000390025:V181L;ENSP00000377087:V181L	.|ENSP00000325594:V289L	M|V	+|+	3|1	0|0	RUFY1|RUFY1	178936718|178936718	0.005000|0.005000	0.15991|0.15991	0.925000|0.925000	0.36789|0.36789	0.967000|0.967000	0.64934|0.64934	0.800000|0.800000	0.27042|0.27042	1.367000|1.367000	0.46095|0.46095	0.645000|0.645000	0.84053|0.84053	ATG|GTG	RUFY1	-	NULL	ENSG00000176783		0.313	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2		0.00	53	0	G	NM_001040451		179004112	+1			no_errors	ENST00000319449	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.360	T
RUNX1T1	862	genome.wustl.edu	37	8	92972690	92972690	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:92972690G>A	ENST00000523629.1	-	12	2049	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACAGTATCGGGCTGTGTTACA	0.517																																																	0													73.0	68.0	70.0					8																	92972690		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1595C>T	8.37:g.92972690G>A	ENSP00000428543:p.Ala532Val		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A543V	ENST00000523629.1	37	c.1628	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779481	0.90195	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35973	1.3;1.29;1.3;1.3;1.3;1.3;1.28;1.29	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.25426	0.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.98	D;D;D;D	0.97110	1.0;0.997;1.0;0.94	T	0.49093	-0.8975	10	0.54805	T	0.06	-17.7479	20.1802	0.98196	0.0:0.0:1.0:0.0	.	543;495;532;505	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	532;505;532;495;495;495;543;505	ENSP00000428543:A532V;ENSP00000379520:A505V;ENSP00000265814:A532V;ENSP00000353504:A495V;ENSP00000390137:A495V;ENSP00000428742:A495V;ENSP00000402257:A543V;ENSP00000430728:A505V	ENSP00000265814:A532V	A	-	2	0	RUNX1T1	93041866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GCC	RUNX1T1	-	pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO	ENSG00000079102		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0.00	36	0	G	NM_004349, NM_175635		92972690	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	A
SDHA	6389	genome.wustl.edu	37	5	236628	236628	+	Missense_Mutation	SNP	C	C	T	rs201139275	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:236628C>T	ENST00000264932.6	+	10	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_ENST00000510361.1_Missense_Mutation_p.A401V|SDHA_ENST00000504309.1_Missense_Mutation_p.A449V	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	449					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTACATGGTGCCAACCGCCTC	0.592									Familial Paragangliomas				C|||	9	0.00179712	0.003	0.0014	5008	,	,		17830	0.002		0.001	False		,,,				2504	0.001																0													81.0	74.0	77.0					5																	236628		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1346C>T	5.37:g.236628C>T	ENSP00000264932:p.Ala449Val		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.A449V	ENST00000264932.6	37	c.1346	CCDS3853.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.176378|4.176378	0.78564|0.78564	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);|.	0.142014|.	0.46758|.	U|.	0.000265|.	D|D	0.92519|0.92519	0.7624|0.7624	H|H	0.99971|0.99971	5.125|5.125	0.80722|0.80722	D|D	1|1	D;D;P;P;D|.	0.63046|.	0.96;0.992;0.881;0.955;0.99|.	P;P;P;P;P|.	0.54924|.	0.764;0.675;0.448;0.548;0.585|.	D|D	0.96100|0.96100	0.9068|0.9068	10|5	0.87932|.	D|.	0|.	.|.	15.9089|15.9089	0.79456|0.79456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	401;449;43;449;449|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	V|S	449;304;449;401|1	ENSP00000264932:A449V;ENSP00000426514:A449V;ENSP00000427703:A401V|.	ENSP00000264932:A449V|.	A|P	+|+	2|1	0|0	SDHA|SDHA	289628|289628	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.230000|0.230000	0.25150|0.25150	5.793000|5.793000	0.69060|0.69060	2.411000|2.411000	0.81874|0.81874	0.650000|0.650000	0.86243|0.86243	GCC|CCA	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1		0.00	104	0	C	NM_004168		236628	+1			no_errors	ENST00000264932	ensembl	human	known	74_37	missense	5.23	145	8	SNP	1.000	T
SEC22B	9554	genome.wustl.edu	37	1	145116311	145116311	+	RNA	DEL	G	G	-	rs373258208|rs386635205|rs368659403|rs373193749|rs2861532		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:145116311delG	ENST00000453618.1	+	0	1397							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ttttttttttgtttttttgtt	0.328																																																	0																																												0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116311delG			A8K1G0	RNA	DEL	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.328	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5		0.00	61	0	G	NM_004892		145116311	+1			no_errors	ENST00000453618	ensembl	human	known	74_37	rna	6.50	115	8	DEL	0.010	0
SELV	348303	genome.wustl.edu	37	19	40006041	40006041	+	Silent	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:40006041T>C	ENST00000335426.4	+	1	289	c.189T>C	c.(187-189)acT>acC	p.T63T	SELV_ENST00000423711.1_Silent_p.T63T	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		63					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			tggtcctgactcctgctccag	0.692																																																	0													33.0	42.0	39.0					19																	40006041		1604	3063	4667	SO:0001819	synonymous_variant	0																														ENST00000335426.4:c.189T>C	19.37:g.40006041T>C			Q17RG5	Silent	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.T63	ENST00000335426.4	37	c.189	CCDS54266.1	19																																																																																			SELV	-	NULL	ENSG00000186838		0.692	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1	-	0.00	37	0	T			40006041	+1	tier1	-	no_errors	ENST00000423711	ensembl	human	known	74_37	silent	17.07	34	7	SNP	0.017	C
SLC25A36	55186	genome.wustl.edu	37	3	140692768	140692768	+	Silent	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:140692768A>G	ENST00000324194.6	+	6	831	c.663A>G	c.(661-663)aaA>aaG	p.K221K	SLC25A36_ENST00000446041.2_Silent_p.K221K|SLC25A36_ENST00000453248.2_Silent_p.K195K|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	221					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTCTGTGAAAGAAGCATCAG	0.348																																																	0													68.0	69.0	69.0					3																	140692768		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.663A>G	3.37:g.140692768A>G			A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.K221	ENST00000324194.6	37	c.663	CCDS46927.1	3																																																																																			SLC25A36	-	superfamily_Mt_carrier_dom	ENSG00000114120		0.348	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	-	0.00	41	0	A	NM_018155		140692768	+1	tier1	-	no_errors	ENST00000324194	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	G
SLC30A5	64924	genome.wustl.edu	37	5	68396658	68396658	+	Silent	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:68396658A>G	ENST00000396591.3	+	2	718	c.108A>G	c.(106-108)ctA>ctG	p.L36L	SLC30A5_ENST00000502979.1_Intron|SLC30A5_ENST00000380860.4_Silent_p.L36L	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	36					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGTGTTACTATGTTTCACTA	0.284																																																	0													55.0	57.0	57.0					5																	68396658		2203	4295	6498	SO:0001819	synonymous_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.108A>G	5.37:g.68396658A>G			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L36	ENST00000396591.3	37	c.108	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.284	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0.00	25	0	A			68396658	+1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	silent	61.54	10	16	SNP	0.435	G
SLC47A1	55244	genome.wustl.edu	37	17	19480714	19480714	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:19480714A>T	ENST00000270570.4	+	17	1647	c.1561A>T	c.(1561-1563)Atg>Ttg	p.M521L	SLC47A1_ENST00000395585.1_Missense_Mutation_p.M521L|SLC47A1_ENST00000571335.1_Missense_Mutation_p.M267L|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Missense_Mutation_p.M219L|SLC47A1_ENST00000457293.1_Missense_Mutation_p.M521L|AC025627.7_ENST00000420951.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	521					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AGATCAGCAGATGCGCCAAGA	0.537																																																	0													121.0	120.0	120.0					17																	19480714		2203	4300	6503	SO:0001583	missense	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1561A>T	17.37:g.19480714A>T	ENSP00000270570:p.Met521Leu		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.M521L	ENST00000270570.4	37	c.1561	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	A	2.048	-0.418481	0.04766	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T	0.28255	1.63;1.62;1.62	4.31	-2.02	0.07388	.	1.938090	0.01915	N	0.040113	T	0.24509	0.0594	L	0.50919	1.6	0.23916	N	0.996477	B;B;B;B	0.12013	0.001;0.001;0.0;0.005	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.10314	-1.0635	10	0.10377	T	0.69	-2.2825	5.3541	0.16051	0.3527:0.1857:0.4616:0.0	.	196;196;521;521	E7ENC3;B4DDH5;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	L	521;521;521;196;233	ENSP00000270570:M521L;ENSP00000415586:M521L;ENSP00000378951:M521L	ENSP00000270570:M521L	M	+	1	0	SLC47A1	19421306	0.000000	0.05858	0.013000	0.15412	0.020000	0.10135	-0.378000	0.07446	-0.261000	0.09405	-0.464000	0.05259	ATG	SLC47A1	-	NULL	ENSG00000142494		0.537	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	-	0.00	39	0	A	NM_018242		19480714	+1	tier1	-	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.007	T
SLC6A1	6529	genome.wustl.edu	37	3	11064120	11064120	+	Missense_Mutation	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:11064120T>C	ENST00000287766.4	+	7	1101	c.680T>C	c.(679-681)tTc>tCc	p.F227S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.F49S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	227					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTTGTGTATTTCTGTATCTGG	0.547																																																	0													112.0	98.0	103.0					3																	11064120		2203	4300	6503	SO:0001583	missense	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.680T>C	3.37:g.11064120T>C	ENSP00000287766:p.Phe227Ser		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport	p.F227S	ENST00000287766.4	37	c.680	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007662	0.93287	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.76968	-1.06;-1.06	5.02	5.02	0.67125	.	0.070853	0.64402	D	0.000015	D	0.90376	0.6988	M	0.93808	3.46	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.92929	0.6362	10	0.87932	D	0	.	14.9138	0.70778	0.0:0.0:0.0:1.0	.	227	P30531	SC6A1_HUMAN	S	227;49	ENSP00000287766:F227S;ENSP00000445171:F49S	ENSP00000287766:F227S	F	+	2	0	SLC6A1	11039120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.757000	0.85209	2.107000	0.64212	0.459000	0.35465	TTC	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000157103		0.547	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	-	0.00	76	0	T	NM_003042		11064120	+1	tier1	-	no_errors	ENST00000287766	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	C
SMAP1	60682	genome.wustl.edu	37	6	71508370	71508370	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:71508370A>G	ENST00000370455.3	+	6	754	c.506A>G	c.(505-507)gAa>gGa	p.E169G	SMAP1_ENST00000316999.5_Missense_Mutation_p.E142G|SMAP1_ENST00000370452.3_Missense_Mutation_p.E142G	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																																	1	Deletion - Frameshift(1)	prostate(1)											23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506A>G	6.37:g.71508370A>G	ENSP00000359484:p.Glu169Gly		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E169G	ENST00000370455.3	37	c.506	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767411	0.49574	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442	T;T;T	0.25085	1.95;1.95;1.82	5.28	5.28	0.74379	.	1.391060	0.04311	N	0.348914	T	0.34687	0.0906	L	0.40543	1.245	0.80722	D	1	P;D;D;B	0.76494	0.483;0.999;0.999;0.003	B;D;D;B	0.83275	0.084;0.996;0.996;0.003	T	0.00565	-1.1668	10	0.40728	T	0.16	-21.4582	13.4919	0.61399	1.0:0.0:0.0:0.0	.	169;142;142;169	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	G	142;142;169;81	ENSP00000359481:E142G;ENSP00000313382:E142G;ENSP00000359484:E169G	ENSP00000313382:E142G	E	+	2	0	SMAP1	71565091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.925000	0.63425	2.126000	0.65437	0.529000	0.55759	GAA	SMAP1	-	NULL	ENSG00000112305		0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1		0.00	18	0	A	NM_001044305		71508370	+1			no_errors	ENST00000370455	ensembl	human	known	74_37	missense	5.45	51	3	SNP	1.000	G
SOCS5	9655	genome.wustl.edu	37	2	46986968	46986968	+	Missense_Mutation	SNP	G	G	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:46986968G>T	ENST00000306503.5	+	2	1471	c.1299G>T	c.(1297-1299)tgG>tgT	p.W433C	SOCS5_ENST00000394861.2_Missense_Mutation_p.W433C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	433	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGCAGTGGAATCACAACT	0.493																																																	0													114.0	112.0	113.0					2																	46986968		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1299G>T	2.37:g.46986968G>T	ENSP00000305133:p.Trp433Cys		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.W433C	ENST00000306503.5	37	c.1299	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625167	0.66901	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.88354	-2.37;-2.37	5.43	5.43	0.79202	SH2 motif (4);	0.131240	0.64402	D	0.000014	D	0.91660	0.7364	L	0.33137	0.985	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.92152	0.5729	10	0.66056	D	0.02	-15.4853	19.0206	0.92912	0.0:0.0:1.0:0.0	.	433	O75159	SOCS5_HUMAN	C	433	ENSP00000305133:W433C;ENSP00000378330:W433C	ENSP00000305133:W433C	W	+	3	0	SOCS5	46840472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	2.824000	0.97209	0.655000	0.94253	TGG	SOCS5	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000171150		0.493	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0.00	42	0	G			46986968	+1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T
STXBP5	134957	genome.wustl.edu	37	6	147583481	147583481	+	Missense_Mutation	SNP	G	G	A	rs367614502		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:147583481G>A	ENST00000321680.6	+	6	622	c.622G>A	c.(622-624)Gag>Aag	p.E208K	STXBP5_ENST00000367480.3_Missense_Mutation_p.E208K|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.E208K|STXBP5_ENST00000367481.3_Missense_Mutation_p.E208K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	208					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.E208K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCAATGGACGAGGGAAAGGT	0.284													G|||	1	0.000199681	0.0	0.0	5008	,	,		12301	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU,LYS/GLU	1,4377		0,1,2188	22.0	23.0	23.0		622,622	5.2	1.0	6		23	0,8546		0,0,4273	no	missense,missense	STXBP5	NM_001127715.2,NM_139244.4	56,56	0,1,6461	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	208/1152,208/1116	147583481	1,12923	2189	4273	6462	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.622G>A	6.37:g.147583481G>A	ENSP00000321826:p.Glu208Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E208K	ENST00000321680.6	37	c.622	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868282	0.91587	2.28E-4	0.0	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.64085	1.56;4.99;1.56;-0.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.911	T	0.60291	-0.7292	10	0.08179	T	0.78	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	208;208	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	K	208	ENSP00000356451:E208K;ENSP00000441479:E208K;ENSP00000321826:E208K;ENSP00000356450:E208K	ENSP00000321826:E208K	E	+	1	0	STXBP5	147625174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.392000	0.97252	2.583000	0.87209	0.655000	0.94253	GAG	STXBP5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000164506		0.284	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0.00	58	0	G			147583481	+1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	21.69	65	18	SNP	1.000	A
SVIL	6840	genome.wustl.edu	37	10	29839859	29839859	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:29839859G>A	ENST00000355867.4	-	6	1246	c.494C>T	c.(493-495)tCt>tTt	p.S165F	SVIL_ENST00000375400.3_Missense_Mutation_p.S165F|SVIL_ENST00000375398.2_Missense_Mutation_p.S165F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	165	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGGTACAGAGAACTAGCATC	0.562																																																	0													78.0	77.0	77.0					10																	29839859		2203	4300	6503	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.494C>T	10.37:g.29839859G>A	ENSP00000348128:p.Ser165Phe		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S165F	ENST00000355867.4	37	c.494	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375257	0.24857	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.49139	0.79;0.79;0.79	5.27	4.27	0.50696	.	0.507828	0.23690	N	0.045532	T	0.46698	0.1406	M	0.69823	2.125	0.18873	N	0.999989	P;P	0.47841	0.716;0.901	B;B	0.39094	0.113;0.29	T	0.52697	-0.8541	9	.	.	.	-7.7372	14.7182	0.69286	0.0:0.0:0.7601:0.2399	.	165;165	O95425-2;O95425	.;SVIL_HUMAN	F	165	ENSP00000364549:S165F;ENSP00000364547:S165F;ENSP00000348128:S165F	.	S	-	2	0	SVIL	29879865	0.383000	0.25156	0.007000	0.13788	0.033000	0.12548	2.284000	0.43478	2.465000	0.83290	0.591000	0.81541	TCT	SVIL	-	NULL	ENSG00000197321		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	-	0.00	48	0	G			29839859	-1	tier1	-	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.001	A
SYCP2	10388	genome.wustl.edu	37	20	58496487	58496487	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr20:58496487C>T	ENST00000357552.3	-	4	271	c.46G>A	c.(46-48)Gat>Aat	p.D16N	SYCP2_ENST00000371001.2_Missense_Mutation_p.D16N|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	16					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTAAAGCATCATCAATGCAT	0.289																																																	0													39.0	38.0	38.0					20																	58496487		2201	4284	6485	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.46G>A	20.37:g.58496487C>T	ENSP00000350162:p.Asp16Asn		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.D16N	ENST00000357552.3	37	c.46	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732446	0.48939	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.52526	2.22;2.22;1.97;0.66	5.04	1.98	0.26296	.	0.265029	0.33023	N	0.005370	T	0.35335	0.0928	L	0.51422	1.61	0.26340	N	0.977382	B	0.20671	0.047	B	0.20955	0.032	T	0.26224	-1.0109	10	0.49607	T	0.09	-9.9927	3.4803	0.07599	0.1391:0.5793:0.1346:0.147	.	16	Q9BX26	SYCP2_HUMAN	N	16;16;16;15	ENSP00000360040:D16N;ENSP00000350162:D16N;ENSP00000402456:D16N;ENSP00000399300:D15N	ENSP00000350162:D16N	D	-	1	0	SYCP2	57929882	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	1.907000	0.39897	0.633000	0.30452	-0.518000	0.04402	GAT	SYCP2	-	NULL	ENSG00000196074		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0.00	29	0	C	NM_014258		58496487	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	40.68	35	24	SNP	1.000	T
TACC2	10579	genome.wustl.edu	37	10	123970420	123970420	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:123970420G>C	ENST00000369005.1	+	9	6820	c.6480G>C	c.(6478-6480)gaG>gaC	p.E2160D	TACC2_ENST00000515273.1_Missense_Mutation_p.E2164D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2115D|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.E306D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2164D|TACC2_ENST00000360561.3_Missense_Mutation_p.E238D|TACC2_ENST00000513429.1_Missense_Mutation_p.E306D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2160D|TACC2_ENST00000260733.3_Missense_Mutation_p.E238D|TACC2_ENST00000368999.1_Missense_Mutation_p.E238D|TACC2_ENST00000369004.3_Missense_Mutation_p.E238D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2160					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGATGAAGAGAGCCTTGTCC	0.537																																																	0													100.0	113.0	108.0					10																	123970420		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6480G>C	10.37:g.123970420G>C	ENSP00000358001:p.Glu2160Asp		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E2160D	ENST00000369005.1	37	c.6480	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.133970	0.06711	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20738	3.94;3.53;4.0;3.99;3.94;3.53;4.0;3.4;3.32;3.32;3.41;3.03;2.05	5.54	2.69	0.31865	.	0.000000	0.36034	N	0.002833	T	0.21427	0.0516	M	0.68317	2.08	0.30788	N	0.741233	B;P;B;P;P;B;P;P;P	0.43750	0.056;0.584;0.004;0.714;0.584;0.012;0.816;0.816;0.714	B;B;B;B;B;B;P;P;B	0.45099	0.027;0.243;0.009;0.263;0.243;0.02;0.469;0.469;0.263	T	0.12167	-1.0558	10	0.18276	T	0.48	-16.134	4.2884	0.10865	0.1354:0.2929:0.4606:0.111	.	255;2164;238;2115;2164;238;238;306;2160	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2160;306;2164;2115;2160;306;2164;2150;238;238;238;238;255;1	ENSP00000358001:E2160D;ENSP00000425062:E306D;ENSP00000424467:E2164D;ENSP00000427618:E2115D;ENSP00000334280:E2160D;ENSP00000350701:E306D;ENSP00000395048:E2164D;ENSP00000353763:E238D;ENSP00000357995:E238D;ENSP00000422815:E238D;ENSP00000260733:E238D;ENSP00000420967:E255D;ENSP00000426303:E1D	ENSP00000260733:E238D	E	+	3	2	TACC2	123960410	0.996000	0.38824	0.036000	0.18154	0.090000	0.18270	1.897000	0.39799	0.298000	0.22638	0.655000	0.94253	GAG	TACC2	-	NULL	ENSG00000138162		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0.00	59	0	G			123970420	+1	tier1	-	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	36.25	51	29	SNP	0.963	C
TAPBPL	55080	genome.wustl.edu	37	12	6566732	6566732	+	Silent	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:6566732C>T	ENST00000266556.7	+	4	891	c.726C>T	c.(724-726)acC>acT	p.T242T	TAPBPL_ENST00000545700.1_Intron|TAPBPL_ENST00000544021.1_Intron	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	242	Ig-like V-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						ACAGCTGGACCGCAGGGCAGG	0.652																																																	0													79.0	71.0	73.0					12																	6566732		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.726C>T	12.37:g.6566732C>T			Q9NWB8	Silent	SNP	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.T242	ENST00000266556.7	37	c.726	CCDS8546.1	12																																																																																			TAPBPL	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000139192		0.652	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	-	0.00	52	0	C	NM_018009		6566732	+1	tier1	-	no_errors	ENST00000266556	ensembl	human	known	74_37	silent	21.30	85	23	SNP	0.000	T
TAS1R2	80834	genome.wustl.edu	37	1	19180923	19180923	+	Silent	SNP	C	C	T	rs377629361		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:19180923C>T	ENST00000375371.3	-	3	1062	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	347					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.P347P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGAGGGGTGGCGGCCCAGCCT	0.637																																																	1	Substitution - coding silent(1)	large_intestine(1)											75.0	72.0	73.0					1																	19180923		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1041G>A	1.37:g.19180923C>T			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.P347	ENST00000375371.3	37	c.1041	CCDS187.1	1																																																																																			TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1		0.00	40	0	C			19180923	-1			no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	5.17	55	3	SNP	0.000	T
TAS2R13	50838	genome.wustl.edu	37	12	11061567	11061567	+	Missense_Mutation	SNP	T	T	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:11061567T>C	ENST00000390677.2	-	1	594	c.331A>G	c.(331-333)Ata>Gta	p.I111V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	111					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAACTCGCTATTTTGAGCAAA	0.353																																																	0													57.0	62.0	60.0					12																	11061567		2203	4300	6503	SO:0001583	missense	0			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.331A>G	12.37:g.11061567T>C	ENSP00000375095:p.Ile111Val		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I111V	ENST00000390677.2	37	c.331	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	T	15.44	2.832924	0.50951	.	.	ENSG00000212128	ENST00000390677	T	0.50813	0.73	3.3	3.3	0.37823	.	0.098833	0.40728	U	0.001034	T	0.67627	0.2913	M	0.86953	2.85	0.23700	N	0.99707	D	0.65815	0.995	D	0.72982	0.979	T	0.58335	-0.7654	10	0.62326	D	0.03	.	8.228	0.31582	0.0:0.0:0.0:1.0	.	111	Q9NYV9	T2R13_HUMAN	V	111	ENSP00000375095:I111V	ENSP00000375095:I111V	I	-	1	0	TAS2R13	10952834	0.985000	0.35326	0.774000	0.31636	0.824000	0.46624	1.374000	0.34283	1.479000	0.48272	0.533000	0.62120	ATA	TAS2R13	-	pfam_TAS2_rcpt	ENSG00000212128		0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	-	0.00	28	0	T			11061567	-1	tier1	-	no_errors	ENST00000390677	ensembl	human	known	74_37	missense	56.25	48	63	SNP	0.693	C
TBC1D23	55773	genome.wustl.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356																																																	4	Unknown(2)|Insertion - Frameshift(2)	large_intestine(2)|skin(2)																																								SO:0001589	frameshift_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947dupA	3.37:g.100039744_100039744dupA	ENSP00000377700:p.Lys647fs		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.H649fs	ENST00000394144.4	37	c.1938_1939	CCDS56265.1	3																																																																																			TBC1D23	-	NULL	ENSG00000036054		0.356	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1		0.00	27	0	-	NM_018309		100039736	+1	tier1		no_errors	ENST00000394144	ensembl	human	known	74_37	frame_shift_ins	8.11	34	3	INS	1.000:1.000	A
TBC1D27	96597	genome.wustl.edu	37	17	16827248	16827248	+	RNA	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:16827248G>A	ENST00000261651.2	-	0	3818									TBC1 domain family, member 27																		GGCCAGGCCCGTCGTGTGGTT	0.592																																																	0																																												0			AK024458		17p11.2	2013-04-03			ENSG00000128438	ENSG00000128438			28104	other	unknown							Standard	XR_424798		Approved				OTTHUMG00000059260		17.37:g.16827248G>A				RNA	SNP	-	NULL	ENST00000261651.2	37	NULL		17																																																																																			TBC1D27	-	-	ENSG00000128438		0.592	TBC1D27-001	KNOWN	basic	processed_transcript	TBC1D27	HGNC	pseudogene	OTTHUMT00000131472.1	-	0.00	32	0	G	XM_002343481		16827248	-1	tier1	-	no_errors	ENST00000261651	ensembl	human	known	74_37	rna	15.56	38	7	SNP	0.054	A
TEKT5	146279	genome.wustl.edu	37	16	10783831	10783831	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:10783831C>T	ENST00000283025.2	-	2	687	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	206						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTGTCATGGACCAAATCAATC	0.512																																																	0													114.0	97.0	103.0					16																	10783831		2197	4300	6497	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.616G>A	16.37:g.10783831C>T	ENSP00000283025:p.Val206Ile		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.V206I	ENST00000283025.2	37	c.616	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028994	0.93518	.	.	ENSG00000153060	ENST00000283025	T	0.04360	3.64	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000033	T	0.28200	0.0696	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06110	-1.0845	10	0.54805	T	0.06	-51.5563	16.6509	0.85189	0.0:1.0:0.0:0.0	.	206	Q96M29	TEKT5_HUMAN	I	206	ENSP00000283025:V206I	ENSP00000283025:V206I	V	-	1	0	TEKT5	10691332	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.485000	0.66850	2.581000	0.87130	0.655000	0.94253	GTC	TEKT5	-	pfam_Tektin	ENSG00000153060		0.512	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	-	0.00	38	0	C	NM_144674		10783831	-1	tier1	-	no_errors	ENST00000283025	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
THBS2	7058	genome.wustl.edu	37	6	169622459	169622459	+	Missense_Mutation	SNP	G	G	A	rs138017175		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:169622459G>A	ENST00000366787.3	-	20	3355	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1036	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACATAGAAGCGGCTGCTTGAC	0.572																																					Esophageal Squamous(91;219 1934 18562 44706)												0								G	CYS/ARG	0,4406		0,0,2203	71.0	63.0	66.0		3106	2.3	1.0	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS2	NM_003247.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1036/1173	169622459	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3106C>T	6.37:g.169622459G>A	ENSP00000355751:p.Arg1036Cys		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R1036C	ENST00000366787.3	37	c.3106	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160296	0.57368	0.0	1.16E-4	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95554	-3.74	4.32	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.41294	U	0.000901	D	0.96262	0.8781	M	0.73962	2.25	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.96033	0.9018	10	0.87932	D	0	-40.6879	11.5045	0.50456	0.0:0.0:0.4817:0.5183	.	1036	P35442	TSP2_HUMAN	C	1036;294	ENSP00000355751:R1036C	ENSP00000355751:R1036C	R	-	1	0	THBS2	169364384	1.000000	0.71417	0.999000	0.59377	0.591000	0.36615	4.111000	0.57838	0.713000	0.32060	0.297000	0.19635	CGC	THBS2	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000186340		0.572	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0.00	51	0	G	NM_003247		169622459	-1	tier1	rs138017175	no_errors	ENST00000366787	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A
TMC5	79838	genome.wustl.edu	37	16	19485599	19485599	+	Splice_Site	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:19485599G>A	ENST00000396229.2	+	12	2839		c.e12+1		TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000564959.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGATCCGGTAGGTGATGT	0.498																																																	0													194.0	156.0	169.0					16																	19485599		2197	4300	6497	SO:0001630	splice_region_variant	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2090+1G>A	16.37:g.19485599G>A			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Splice_Site	SNP	-	e10+1	ENST00000396229.2	37	c.2090+1	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658931	0.67586	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2127	0.73238	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC5	19393100	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.783000	0.68982	2.422000	0.82143	0.561000	0.74099	.	TMC5	-	-	ENSG00000103534		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1		0.00	62	0	G	NM_024780	Intron	19485599	+1			no_errors	ENST00000396229	ensembl	human	known	74_37	splice_site	6.90	81	6	SNP	1.000	A
TMEFF2	23671	genome.wustl.edu	37	2	192820998	192820998	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:192820998C>T	ENST00000272771.5	-	8	2036	c.852G>A	c.(850-852)atG>atA	p.M284I	TMEFF2_ENST00000392314.1_Missense_Mutation_p.M284I|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	284	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATGGCTCCTGCATATTGATAG	0.353																																					Pancreas(50;1277 1381 28487 47072)												0													129.0	112.0	117.0					2																	192820998		2202	4300	6502	SO:0001583	missense	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.852G>A	2.37:g.192820998C>T	ENSP00000272771:p.Met284Ile		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.M284I	ENST00000272771.5	37	c.852	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460052	0.26248	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.13420	2.59;2.59	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.384643	0.30791	N	0.008874	T	0.09555	0.0235	N	0.12637	0.245	0.80722	D	1	B	0.20368	0.044	B	0.18561	0.022	T	0.23084	-1.0198	10	0.29301	T	0.29	-14.1921	17.8495	0.88740	0.0:1.0:0.0:0.0	.	284	Q9UIK5	TEFF2_HUMAN	I	284	ENSP00000376128:M284I;ENSP00000272771:M284I	ENSP00000272771:M284I	M	-	3	0	TMEFF2	192529243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.742000	0.62103	2.499000	0.84300	0.491000	0.48974	ATG	TMEFF2	-	pfscan_EG-like_dom	ENSG00000144339		0.353	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	-	0.00	61	0	C	NM_016192		192820998	-1	tier1	-	no_errors	ENST00000272771	ensembl	human	known	74_37	missense	30.11	64	28	SNP	1.000	T
TMEM254	80195	genome.wustl.edu	37	10	81841942	81841943	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:81841942_81841943insT	ENST00000372281.3	+	3	263_264	c.233_234insT	c.(232-237)tatgccfs	p.A79fs	TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.A79fs|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.A79fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.A79fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	79						integral component of membrane (GO:0016021)											GAGTCCTTGTATGCCATAGTAT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.234dupT	10.37:g.81841943_81841943dupT	ENSP00000361355:p.Ala79fs		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Ins	INS	NULL	p.A79fs	ENST00000372281.3	37	c.233_234	CCDS7363.1	10																																																																																			TMEM254	-	NULL	ENSG00000133678		0.366	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1		0.00	71	0	-	NM_025125		81841943	+1	tier1		no_errors	ENST00000372281	ensembl	human	known	74_37	frame_shift_ins	15.58	65	12	INS	1.000:1.000	T
TP53	7157	genome.wustl.edu	37	17	7577530	7577530	+	Missense_Mutation	SNP	T	T	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:7577530T>A	ENST00000269305.4	-	7	940	c.751A>T	c.(751-753)Atc>Ttc	p.I251F	TP53_ENST00000455263.2_Missense_Mutation_p.I251F|TP53_ENST00000359597.4_Missense_Mutation_p.I251F|TP53_ENST00000420246.2_Missense_Mutation_p.I251F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.I251F|TP53_ENST00000413465.2_Missense_Mutation_p.I251F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I251F(9)|p.0?(8)|p.I251fs*94(6)|p.I251L(5)|p.I251_T253delILT(4)|p.I251del(2)|p.I251V(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.P250_I251insXXXXXX(1)|p.P250_I251insX(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGAGGATGGGCCTCCGG	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	47	Substitution - Missense(16)|Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - In frame(3)|Insertion - Frameshift(2)	stomach(9)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|liver(3)|urinary_tract(2)|lung(2)|oesophagus(2)|skin(1)											153.0	111.0	126.0					17																	7577530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.751A>T	17.37:g.7577530T>A	ENSP00000269305:p.Ile251Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I251F	ENST00000269305.4	37	c.751	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175686	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.992;0.999;0.997;1.0	D	0.96557	0.9412	10	0.87932	D	0	-1.7057	12.3101	0.54924	0.0:0.0:0.0:1.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	F	251;251;251;251;251;251;240;119	ENSP00000410739:I251F;ENSP00000352610:I251F;ENSP00000269305:I251F;ENSP00000398846:I251F;ENSP00000391127:I251F;ENSP00000391478:I251F;ENSP00000425104:I119F	ENSP00000269305:I251F	I	-	1	0	TP53	7518255	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.824000	0.86668	2.074000	0.62210	0.379000	0.24179	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	269	0	T	NM_000546		7577530	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.37	97	136	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577535	7577536	+	Missense_Mutation	DNP	CT	CT	AA	rs587782329|rs587782082		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:7577535_7577536CT>AA	ENST00000269305.4	-	7	934_935	c.745_746AG>TT	c.(745-747)AGg>TTg	p.R249L	TP53_ENST00000455263.2_Missense_Mutation_p.R249L|TP53_ENST00000359597.4_Missense_Mutation_p.R249L|TP53_ENST00000420246.2_Missense_Mutation_p.R249L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R249L|TP53_ENST00000413465.2_Missense_Mutation_p.R249L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249M(38)|p.R249W(37)|p.R249G(30)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(5)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R249R(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249fs*19(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.G245fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGATGGGCCTCCGGTTCATG	0.569		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	174	Substitution - Missense(141)|Deletion - In frame(9)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)|Substitution - coding silent(1)	lung(44)|upper_aerodigestive_tract(21)|large_intestine(13)|breast(13)|urinary_tract(11)|oesophagus(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|liver(8)|central_nervous_system(5)|biliary_tract(5)|skin(5)|ovary(5)|bone(4)|soft_tissue(3)|endometrium(3)|pancreas(3)|adrenal_gland(2)|peritoneum(1)|small_intestine(1)|prostate(1)																																								SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.745_746delinsAA	17.37:g.7577535_7577536delinsAA	ENSP00000269305:p.Arg249Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R249M|p.R249W	ENST00000269305.4	37	c.746|c.745	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	270|269	0	C|T	NM_000546		7577535|7577536	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	55.00|53.39	99|100	121|118	SNP	1.000|0.998	A
TPRKB	51002	genome.wustl.edu	37	2	73957880	73957881	+	Intron	INS	-	-	A	rs373860849		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:73957880_73957881insA	ENST00000272424.5	-	4	371				TPRKB_ENST00000318190.7_Intron|TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000409716.2_Intron	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						GAAAAAAAATGAAAAAAAAAAC	0.327																																																	0																																										SO:0001627	intron_variant	0			AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.265-17->T	2.37:g.73957890_73957890dupA			D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	RNA	INS	-	NULL	ENST00000272424.5	37	NULL	CCDS1927.1	2																																																																																			TPRKB	-	-	ENSG00000144034		0.327	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRKB	HGNC	protein_coding	OTTHUMT00000252046.2		0.00	8	0	-	NM_016058		73957881	-1	tier1		no_errors	ENST00000485758	ensembl	human	putative	74_37	rna	18.75	13	3	INS	0.000:0.004	A
TPSD1	23430	genome.wustl.edu	37	16	1306353	1306353	+	Silent	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:1306353C>T	ENST00000211076.3	+	1	220	c.72C>T	c.(70-72)taC>taT	p.Y24Y	TPSD1_ENST00000397534.2_Silent_p.Y17Y|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	24						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCGGCCTACGTGGCCCCTG	0.721																																																	0													30.0	38.0	36.0					16																	1306353		2197	4298	6495	SO:0001819	synonymous_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.72C>T	16.37:g.1306353C>T			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.Y24	ENST00000211076.3	37	c.72	CCDS10432.1	16																																																																																			TPSD1	-	NULL	ENSG00000095917		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	HGNC	protein_coding	OTTHUMT00000250320.2	-	0.00	61	0	C			1306353	+1	tier1	-	no_errors	ENST00000211076	ensembl	human	known	74_37	silent	43.64	31	24	SNP	0.000	T
TRIM2	23321	genome.wustl.edu	37	4	154191497	154191497	+	5'UTR	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:154191497C>T	ENST00000437508.2	+	0	161				TRIM2_ENST00000338700.5_Missense_Mutation_p.A14V|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2						cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCAGCGTGCAGGGTCAAAG	0.483																																																	0													91.0	94.0	93.0					4																	154191497		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.-41C>T	4.37:g.154191497C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.A14V	ENST00000437508.2	37	c.41	CCDS47147.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.340164	0.95783	.	.	ENSG00000109654	ENST00000338700	T	0.69806	-0.43	5.78	5.78	0.91487	.	.	.	.	.	T	0.53367	0.1792	N	0.19112	0.55	0.42839	D	0.994044	P	0.41673	0.759	B	0.33960	0.173	T	0.62220	-0.6900	9	0.87932	D	0	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	14	D3DP09	.	V	14	ENSP00000339659:A14V	ENSP00000339659:A14V	A	+	2	0	TRIM2	154410947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.390000	0.79816	2.735000	0.93741	0.650000	0.86243	GCA	TRIM2	-	NULL	ENSG00000109654		0.483	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	-	0.00	51	0	C			154191497	+1	tier1	-	no_errors	ENST00000338700	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	73151532	73151532	+	Missense_Mutation	SNP	G	G	C			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:73151532G>C	ENST00000377110.3	-	25	4704	c.4461C>G	c.(4459-4461)gaC>gaG	p.D1487E	TRPM3_ENST00000377106.1_Missense_Mutation_p.D1359E|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1336E|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1346E|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1359E|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1491E|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1346E|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1514E|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1349E|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1349E|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1346E			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1512					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGGCTCTGAGTCCCAGGGGT	0.507																																																	0													106.0	109.0	108.0					9																	73151532		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4461C>G	9.37:g.73151532G>C	ENSP00000366314:p.Asp1487Glu		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D1514E	ENST00000377110.3	37	c.4542	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271648|1.271648	0.23221|0.23221	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.62105|.	0.18;0.07;0.06;0.06;0.18;0.06;0.05;0.07;0.06;0.17|.	6.02|6.02	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.29908|0.29908	0.895|0.895	0.24933|0.24933	N|N	0.991908|0.991908	B;B;B;B;B;B;B|.	0.15141|.	0.012;0.001;0.001;0.003;0.005;0.0;0.003|.	B;B;B;B;B;B;B|.	0.14578|.	0.011;0.007;0.002;0.005;0.011;0.001;0.005|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.12766|.	T|.	0.61|.	-28.6681|-28.6681	4.2682|4.2682	0.10773|0.10773	0.3585:0.0:0.4841:0.1574|0.3585:0.0:0.4841:0.1574	.|.	1487;1477;1491;1349;1346;1459;1346|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	E|V	1487;1359;1349;1346;1491;1346;1346;1359;1349;1514|1336	ENSP00000366314:D1487E;ENSP00000366310:D1359E;ENSP00000354066:D1349E;ENSP00000366309:D1346E;ENSP00000350140:D1491E;ENSP00000386127:D1346E;ENSP00000379581:D1346E;ENSP00000379587:D1359E;ENSP00000350791:D1349E;ENSP00000389542:D1514E|.	ENSP00000350140:D1491E|.	D|L	-|-	3|1	2|0	TRPM3|TRPM3	72341352|72341352	0.956000|0.956000	0.32656|0.32656	0.987000|0.987000	0.45799|0.45799	0.995000|0.995000	0.86356|0.86356	0.718000|0.718000	0.25866|0.25866	0.889000|0.889000	0.36185|0.36185	0.655000|0.655000	0.94253|0.94253	GAC|CTC	TRPM3	-	NULL	ENSG00000083067		0.507	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	-	0.00	9	0	G	NM_206945		73151532	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	55.56	8	10	SNP	0.374	C
TSSC2	650368	genome.wustl.edu	37	11	3427829	3427829	+	RNA	SNP	C	C	G	rs201117209	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:3427829C>G	ENST00000529482.1	+	0	946									tumor suppressing subtransferable candidate 2 pseudogene																		CTGTGTGTGCCGTGAACTTCA	0.582																																																	0																																												0					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427829C>G				RNA	SNP	-	NULL	ENST00000529482.1	37	NULL		11																																																																																			TSSC2	-	-	ENSG00000223756		0.582	TSSC2-003	KNOWN	basic	processed_transcript	TSSC2	HGNC	pseudogene	OTTHUMT00000392020.1	-	0.00	239	0	C			3427829	+1	tier1	-	no_errors	ENST00000529482	ensembl	human	known	74_37	rna	6.09	185	12	SNP	0.985	G
TSSK1B	83942	genome.wustl.edu	37	5	112769894	112769894	+	Missense_Mutation	SNP	G	G	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:112769894G>A	ENST00000390666.3	-	1	834	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCGTCGTAGGGCATGGAGCCG	0.592																																																	0													70.0	65.0	67.0					5																	112769894		2202	4300	6502	SO:0001583	missense	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.643C>T	5.37:g.112769894G>A	ENSP00000375081:p.Pro215Ser		B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P215S	ENST00000390666.3	37	c.643	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599638	0.46318	.	.	ENSG00000212122	ENST00000390666	T	0.39787	1.06	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34338	U	0.004058	T	0.70710	0.3255	H	0.96604	3.85	0.33718	D	0.616669	D	0.89917	1.0	D	0.97110	1.0	T	0.78280	-0.2265	10	0.87932	D	0	.	7.9215	0.29848	0.0:0.0:1.0:0.0	.	215	Q9BXA7	TSSK1_HUMAN	S	215	ENSP00000375081:P215S	ENSP00000375081:P215S	P	-	1	0	TSSK1B	112797793	1.000000	0.71417	0.820000	0.32676	0.550000	0.35303	6.647000	0.74354	0.635000	0.30488	0.313000	0.20887	CCC	TSSK1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000212122		0.592	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2		0.00	34	0	G	NM_032028		112769894	-1			no_errors	ENST00000390666	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
YEATS2	55689	genome.wustl.edu	37	3	183439772	183439772	+	Missense_Mutation	SNP	A	A	G			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:183439772A>G	ENST00000305135.5	+	5	580	c.385A>G	c.(385-387)Aga>Gga	p.R129G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	129					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGCCAATCAGAGAGCAGAAAC	0.358																																																	0													141.0	135.0	137.0					3																	183439772		1949	4158	6107	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.385A>G	3.37:g.183439772A>G	ENSP00000306983:p.Arg129Gly		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.R129G	ENST00000305135.5	37	c.385	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	A	7.378	0.628204	0.14257	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.57595	0.39	5.69	4.54	0.55810	.	0.200516	0.43416	N	0.000561	T	0.29524	0.0736	N	0.20685	0.6	0.30187	N	0.799886	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	10	0.06365	T	0.9	-18.6988	6.4937	0.22130	0.7768:0.0:0.2232:0.0	.	129	Q9ULM3	YETS2_HUMAN	G	129	ENSP00000306983:R129G	ENSP00000306983:R129G	R	+	1	2	YEATS2	184922466	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.037000	0.41174	1.005000	0.39183	0.482000	0.46254	AGA	YEATS2	-	NULL	ENSG00000163872		0.358	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	-	0.00	38	0	A	NM_018023		183439772	+1	tier1	-	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	47.25	48	43	SNP	1.000	G
ZC3H8	84524	genome.wustl.edu	37	2	113007845	113007845	+	Missense_Mutation	SNP	C	C	A			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:113007845C>A	ENST00000409573.2	-	2	208	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	ZC3H8_ENST00000272570.5_Missense_Mutation_p.D27Y			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	27					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						ATTTCATCATCGATTCTGTAG	0.343																																																	0													110.0	90.0	96.0					2																	113007845		1815	4067	5882	SO:0001583	missense	0			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.79G>T	2.37:g.113007845C>A	ENSP00000386488:p.Asp27Tyr		Q9BZ75	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D27Y	ENST00000409573.2	37	c.79	CCDS46392.1	2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443692	0.25987	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.26373	1.74;1.74	3.51	0.651	0.17817	.	0.706306	0.12060	N	0.503246	T	0.22437	0.0541	M	0.68593	2.085	0.41000	D	0.984929	B	0.30406	0.278	B	0.25506	0.061	T	0.12708	-1.0537	10	0.72032	D	0.01	-4.5484	3.662	0.08242	0.0:0.554:0.2085:0.2375	.	27	Q8N5P1	ZC3H8_HUMAN	Y	27	ENSP00000386488:D27Y;ENSP00000272570:D27Y	ENSP00000272570:D27Y	D	-	1	0	ZC3H8	112724316	0.133000	0.22466	0.983000	0.44433	0.909000	0.53808	-0.001000	0.12947	0.114000	0.18032	-0.137000	0.14449	GAT	ZC3H8	-	NULL	ENSG00000144161		0.343	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	-	0.00	57	0	C	NM_032494		113007845	-1	tier1	-	no_errors	ENST00000272570	ensembl	human	known	74_37	missense	10.64	84	10	SNP	0.986	A
ZMAT1	84460	genome.wustl.edu	37	X	101138438	101138439	+	3'UTR	INS	-	-	T	rs370996061		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chrX:101138438_101138439insT	ENST00000372782.3	-	0	2007_2008				ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000458570.1_3'UTR|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATTGACTGTTTTTTTTTTT	0.332																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*44->A	X.37:g.101138449_101138449dupT			Q8NDS3|Q96JN6	RNA	INS	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.332	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1		0.00	16	0	-			101138439	-1	tier1		no_errors	ENST00000494068	ensembl	human	known	74_37	rna	11.54	23	3	INS	0.000:0.000	T
ZNF107	51427	genome.wustl.edu	37	7	64168085	64168085	+	Missense_Mutation	SNP	A	A	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:64168085A>T	ENST00000395391.1	+	4	2778	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	ZNF107_ENST00000423627.1_Missense_Mutation_p.Y468F|ZNF107_ENST00000344930.3_Missense_Mutation_p.Y468F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAAACCCTATAAATGTGAG	0.363																																																	0													26.0	28.0	27.0					7																	64168085		2200	4292	6492	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1403A>T	7.37:g.64168085A>T	ENSP00000378789:p.Tyr468Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y468F	ENST00000395391.1	37	c.1403	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065146	0.36470	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.18338	2.22;2.22;2.22	1.27	-0.836	0.10770	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.20328	0.56	0.09310	N	1	P	0.43885	0.82	P	0.48873	0.593	T	0.25257	-1.0137	8	.	.	.	.	3.6122	0.08065	0.4362:0.0:0.0:0.5638	.	468	Q9UII5	ZN107_HUMAN	F	468	ENSP00000343443:Y468F;ENSP00000400037:Y468F;ENSP00000378789:Y468F	.	Y	+	2	0	ZNF107	63805520	0.000000	0.05858	0.192000	0.23308	0.375000	0.29983	-0.780000	0.04654	0.530000	0.28619	0.260000	0.18958	TAT	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0.00	22	0	A	NM_016220		64168085	+1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.082	T
ZNF300P1	134466	genome.wustl.edu	37	5	150310917	150310917	+	RNA	DEL	T	T	-			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:150310917delT	ENST00000520773.1	-	0	2404									zinc finger protein 300 pseudogene 1 (functional)																		CTCTCCAGTATGAGCTCTGTG	0.403																																																	0																																												0			AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150310917delT				RNA	DEL	-	NULL	ENST00000520773.1	37	NULL		5																																																																																			ZNF300P1	-	-	ENSG00000197083		0.403	ZNF300P1-002	KNOWN	basic	processed_transcript	ZNF300P1	HGNC	pseudogene	OTTHUMT00000374771.1		0.00	48	0	T	NR_026867		150310917	-1	tier1		no_errors	ENST00000520773	ensembl	human	known	74_37	rna	20.51	62	16	DEL	1.000	-
ZNF524	147807	genome.wustl.edu	37	19	56114128	56114128	+	Missense_Mutation	SNP	C	C	T			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:56114128C>T	ENST00000591046.1	+	1	884	c.650C>T	c.(649-651)gCg>gTg	p.A217V	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.A217V			Q96C55	ZN524_HUMAN	zinc finger protein 524	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCGCCATGCGAAGCGCAAG	0.701																																																	0													17.0	16.0	17.0					19																	56114128		2150	4190	6340	SO:0001583	missense	0			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.650C>T	19.37:g.56114128C>T	ENSP00000466907:p.Ala217Val		Q6NW31|Q96IL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A217V	ENST00000591046.1	37	c.650	CCDS12929.1	19	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205481	0.22205	.	.	ENSG00000171443	ENST00000301073	T	0.36520	1.25	2.99	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	N	0.14661	0.345	0.25566	N	0.986942	P	0.39737	0.685	B	0.21708	0.036	T	0.08493	-1.0719	9	0.72032	D	0.01	.	8.6723	0.34159	0.2401:0.7599:0.0:0.0	.	217	Q96C55	ZN524_HUMAN	V	217	ENSP00000301073:A217V	ENSP00000301073:A217V	A	+	2	0	ZNF524	60805940	0.019000	0.18553	0.996000	0.52242	0.990000	0.78478	0.791000	0.26915	0.765000	0.33221	0.561000	0.74099	GCG	ZNF524	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171443		0.701	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF524	HGNC	protein_coding	OTTHUMT00000457938.1	-	0.00	50	0	C	NM_153219		56114128	+1	tier1	-	no_errors	ENST00000301073	ensembl	human	known	74_37	missense	32.91	53	26	SNP	1.000	T
